Table 1.
List of Published Pathogenic Variants in CCS
| Paper | Year | Mutation | Exon | Mutation Type |
|---|---|---|---|---|
| Vanecek et al. | 2014 | c.-34111_*297858del378779 | N/A | Large deletion |
| Nasti et al. | 2009 | c.561_562dupT | 5 | NS |
| Parren et al. | 2018 | c.588_591dupTGTT | 5 | FS |
| Shiver et al. | 2015 | c.703G>A | 5 | MS |
| Parren et al. | 2018 | c.822delC | 6 | FS |
| Vanecek et al. | 2014 | c.914–6398_1769del13642ins20 | N/A | Large deletion |
| Dubois et al. | 2015 | c.966dupG | 8 | FS |
| Grossman et al. | 2013 | c.1027dupA | 9 | FS |
| Saggar et al. | 2008 | c.1096_1097del | 9 | FS |
| Bignall et al, Bowen et al, Saggar et al. | 2000;2005;2008 | c.1112C>A | 9 | NS |
| Almeida et al. | 2008 | c.1135G>T | 9 | NS |
| Kazakov et al. | 2009 | c.1139–148A>G | 10 | Splice |
| Wu et al. | 2014 | c.1169_1170delCA | 10 | FS |
| Ying et al. | 2012 | c.1178_1179delCA | 10 | FS |
| Almeida et al. | 2008 | c.1207C>T | 10 | NS |
| Liang et al. | 2008 | c.1364_1365del | 10 | FS |
| Nasti et al. | 2009 | c.1392_1393dupT | 10 | NS |
| Bignell et al. | 2000 | c.1455T>A | 10 | NS |
| Zheng et al. | 2004 | c.1462delA | 10 | FS |
| Ly et al. | 2004 | c.1518+2T>C | 10 | Splice |
| Bignell et al. | 2000 | c.1569T>G | 11 | NS |
| Solak et al. | 2019 | c.1609A>T | 11 | NS |
| Andersson et al. | 2019 | c.1613_1614delGC | 11 | FS |
| Saggar et al. | 2008 | c.1628_1629del | 11 | NS |
| Bignell et al. | 2000 | c.1681_1682del | 11 | FS |
| van den Ouweland et al. | 2011 | c.1682T>A | 11 | NS |
| Kazakov et al. | 2010 | c.1684+1G>A | 11 | Splice |
| Bowen et al; Saggar et al. | 2005, 2008 | c.1755_1758dup | 12 | FS |
| Bignell et al. | 2000 | c.1776delA | 12 | FS |
| Pinho et al. | 2015 | c.1783C>T | 12 | NS |
| Zuo et al. | 2007 | c.1787G>A | 12 | MS |
| Nagy et al. | 2021 | c.1806_1809delCTTA | 12 | NS |
| Tantcheva-Poór et al. | 2016 | c.1821_1826+1delinsCT | 12 | FS |
| Huang et al. | 2009 | c.1826+1G>A | 12 | Splice |
| Liang et al. | 2005 | c.1826+2T>G | 12 | Splice |
| Kazakov et al. | 2011 | c.1826+1G>T | 12 | Splice |
| Huang et al. | 2009 | IVS12+1G>A | 12 | Splice |
| Bignell et al, Saggar et al. | 2000, 2008 | c.1830dupA | 13 | FS |
| Reuven et al. | 2013 | c.1843delT | 13 | FS |
| Bignell et al, Saggar et al. | 2000, 2008 | c.1859_1860del | 13 | FS |
| Saggar et al. | 2008 | c.1863dupA | 13 | FS |
| Nasti et al. | 2009 | c.1893_1906delATATTATAGTGAAA | 13 | NS |
| Chen et al. | 2011 | c.1925delC | 13 | FS |
| Bignell et al. | 2000 | c.1935dupT | 13 | NS |
| Nasti et al. | 2009 | c.1950–2A>T | 14 | Splice |
| Nasti et al. | 2009 | c.1950_1953-1delGATA | 14 | Splice |
| Kazakov et al. | 2009 | c.1961T>A | 14 | MS |
| Heinritz et al. | 2006 | c.2012_2021del | 14 | FS |
| Nagy N et al. | 2015 | c.2032G>T | 14 | NS |
| Kacerovska et al. | 2013 | c.2041+1G>T | 15 | Splice |
| Almeida et al. | 2008 | c.2042A>G | 15 | MS |
| Malzone et al. | 2015 | c.2042–1G>C | 15 | Splice |
| van den Ouweland et al. | 2011 | c.2065_2066delCT | 15 | FS |
| van den Ouweland et al. | 2011 | c.2068_2069delTTinsC | 15 | FS |
| Guardoli et al. | 2014 | c.2070delT | 15 | FS |
| Almeida et al, Parren et al. | 2008, 2018 | c.2081delT | 15 | NS |
| Sima et al, Cakmak Genc et al. | 2010, 2019 | c.2104delA | 15 | FS |
| Salhi et al. | 2004 | c.2104dupA | 15 | FS |
| Sima et al. | 2010 | c.2108+1G>C | 15 | Splice |
| Parren et al. | 2018 | c.2108+1G>A | 15 | Splice |
| Parren et al. | 2018 | c.2109–2A>C | 15 | Splice |
| Melly et al. | 2012 | c.2116_2117insATTAG | 16 | FS |
| Sima et al. | 2010 | c.2119C>T | 16 | NS |
| Zheng et al, Chen et al. | 2004, 2011 | c.2128C>T | 16 | NS |
| Bignall et al. | 2000 | c.2138delA | 16 | FS |
| van den Ouweland et al. | 2011 | c.2146C>A | 16 | MS |
| Saggar et al. | 2008 | c.2154dupT | 16 | FS |
| Grossman et al. | 2013 | c.2155dupA | 16 | FS |
| Sima et al. | 2010 | c.2170_2171insTC | 16 | FS |
| Bignall et al, Scheinfeld et al, Saggar et al. | 2000, 2003, 2008 | c.2172delA | 16 | FS |
| Saggar et al. | 2008 | c.2214delT | 16 | FS |
| Hu et al, Saggar et al. | 2003, 2008 | c.2240A>G | 16 | MS |
| Liang et al. | 2005 | c.2240_2241delA | 16 | FS |
| Fujii et al. | 2017 | c.2242–1G>A | 16 | Splice |
| Parren et al. | 2018 | c.2242–2A>G | 16 | Splice |
| Poblete Gutierrez et al. | 2002 | c.2252delG | 17 | FS |
| Hongli et al. | 2014 | c.2255delT | 17 | FS |
| Kazakov et al. | 2011 | c.2259dupT | 17 | FS |
| Parren et al. | 2018 | c.2261T>G | 17 | MS |
| Bignall et al, Oiso et al, Zhang et al, Farkas et al. | 2000, 2004, 2006, 2016 | c.2272C>T | 17 | NS |
| Grossman et al. | 2013 | c.2288_2289delTT | 17 | FS |
| Saggar et al. | 2008 | c.2290_2294del | 17 | FS |
| Grossman et al. | 2013 | c.2291_2295delAACTA | 17 | FS |
| Sima et al. | 2010 | c.2299A>T | 17 | NS |
| Bignell et al. | 2000 | c.2305_2306insC | 17 | FS |
| Bowen et al; Saggar et al. | 2005, 2008 | c.2305delA | 17 | FS |
| Wang et al. | 2010 | c.2317G>A | 17 | MS |
| Hester et al. | 2013 | c.2330_2331delTA | 17 | FS |
| Wang et al. | 2010 | c.2335G>A | 17 | MS |
| Bowen et al, Saggar et al. | 2005, 2008 | c.2339T>G | 17 | NS |
| Bignall et al. | 2000 | c.2350+5G>A | 18 | Splice |
| Zhang et al. | 2004 | c.2355_2358del | 18 | FS |
| Parren et al. | 2018 | c.2409C>A | 18 | NS |
| Liang et al. | 2008 | c.2409C>G | 18 | NS |
| Amaro C et al. | 2010 | c.2449delT | 18 | NS |
| Bignall et al. | 2000 | c.2460delC | 18 | NS |
| Hunstig et al. | 2015 | c.2465insAACA | 18 | FS |
| Bignall et al. | 2000 | c.2467C>T | 18 | NS |
| Bignall et al. | 2000 | c.2469+1G>A | 18 | Splice |
| Parren et al. | 2018 | c.2540G>A | 19 | NS |
| Almeida et al. | 2008 | c.2546G>A | 19 | NS |
| Scholz et al. | 2010 | c.2552_2553insA | 19 | FS |
| Bignall et al. | 2000 | c.2569C>T | 19 | NS |
| Parren | 2018 | c.2581T>G | 19 | MS |
| Bignall et al, Oranje et al. | 2000, 2008 | c.2602G>T | 19 | NS |
| Nagy et al. | 2012 | c.2613C>G | 19 | MS |
| Grossman et al. | 2013 | c.2641delG | 19 | FS |
| Parren et al. | 2018 | c.2649dupT | 19 | FS |
| van den Ouweland et al. | 2011 | c.2655G>A | 19 | NS |
| van den Ouweland et al. | 2011 | c.2662_2664delTTT | 19 | Deletion |
| Tantcheva-Poór et al. | 2016 | c.2666A>T | 19 | MS |
| van den Ouweland et al. | 2011 | c.2686+60_3340del5632 | 20 | Large deletion |
| Espana et al. | 2007 | c.2687G>C | 20 | MS |
| Furuichi et al. | 2012 | c.2709dupT | 20 | FS |
| Ly et al. | 2008 | c.2711C>T | 20 | MS |
| Tantcheva-Poór et al. | 2016 | c.2712delT | 20 | FS |
| Grossman et al. | 2013 | c.2713C>T | 20 | NS |
| Sima et al. | 2010 | c.2729dupC | 20 | FS |
| Bignall et al, Bowen et al, Young et al, Saggar et al, Kazakov et al, Nagy et al. | 2000, 2005, 2006, 2008, 2009, 2013 | c.2806C>T | 20 | NS |
| Sima et al. | 2010 | c.2814_2817delGCTT | 20 | FS |
| Qian et al. | 2014 | c.2815delC | 20 | FS |
| Zheng et al. | 2004 | c.2822A>T | 20 | MS |
| Nagy et al. | 2021 | c.2841C>G | 20 | NS |
Note: All mutations described in relation to reference sequence NM_015247.
Abbreviations: FS, frameshift; NS, nonsense; MS, missense.