Table 1.
Variants in the GUCY2D Cohort
| P | Family ID | Con. | Hom. variant | Variant 1 | Protein Effect | Variant Type | PUV | Variant 2 | Protein Effect | Variant Type | PUV |
|---|---|---|---|---|---|---|---|---|---|---|---|
| P1 | GC12356 | c.307G>A† | p.(Glu103Lys)† | Missense | c.238_252delGCCGCCGCCCGCCTG | p.(Ala80_Leu84del) | In-frame deletion | ||||
| P2A | GC19319 | c.307G>A† | p.(Glu103Lys)† | Missense | c.1762C>T | p.(Arg 588Trp) | Missense | ||||
| P2B | GC19319 | c.307G>A† | p.(Glu103Lys)† | Missense | c.1762C>T | p.(Arg 588Trp) | Missense | ||||
| P3 | GC1015 | c.380C>T | p.(Pro127Leu) | Missense | c.901_908delCTTCGCAG | p.(Leu301Glyfs*15) | Frameshift | ||||
| P4 | GC17851 | c.553G>C | p.(Ala185Pro) | Missense | ✓ | c.721+5G>T | Splicing | ✓ | |||
| P5 | GC19719 | c.307G>A† | p.(Glu103Lys)† | Missense | c.2872A>C | p.(Ser958Arg) | Missense | ✓ | |||
| P6 | GC3264 | ✓ | c.652delA | p.(Met218Trpfs*13) | Frameshift | ✓ | |||||
| P7 | GC22697 | c.2837C>A | p.(Ala946Glu) | Missense | ✓ | c.2969G>T | p.(Gly990Val) | Missense | ✓ | ||
| P8A | GC19606 | ✓ | c.3056A>C | p.(His1019Pro) | Missense | ||||||
| P8B | GC19606 | ✓ | c.3056A>C | p.(His1019Pro) | Missense | ||||||
| P9 | GC16211 | ✓ | c.3098_3099insCGTGCTCT | p.(Gly1034Valfs*15) | Frameshift | ||||||
| P10 | GC16935 | c.1343C>A | p.(Ser448*) | Nonsense | c.1958delG | p.(Gly653Glufs*2) | Frameshift | ✓ | |||
| P11 | GC16929 | c.2302C>T | p.(Arg768Trp) | Missense | c.1978C>T | p.(Arg660*) | Nonsense | ||||
| P12 | GC18677 | c.2384G>A | p.(Arg795Gln) | Missense | c.1211T>C | p.(Leu404Pro) | Missense | ✓ | |||
| P13 | GC1036 | c.307G>A† | p.(Glu103Lys)† | Missense | c.2849C>T | p.(Ala950Val) | Missense | ||||
| P14 | GC17418 | ✓ | c.c.2120T>C | p.(Leu707Pro) | Missense | ✓ | |||||
| P15 | GC24539 | ✓ | ✓ | c.3044-2A>G | Splicing | ✓ | |||||
| P16 | GC18674 | c.2944+1delG | Splicing | ✓ | c.2858C>T | p.(Ser953Leu) | Missense | ✓ | |||
| P17 | GC24284 | ✓ | c.1694T>C | p.(Phe565Ser) | missense | c.2633_2636delAAGT | p.(Gln878Argfs*17) | Frameshift | ✓ | ||
| P18 | GC17645 | ✓ | c.129_134delTCTGCT | p.(Leu44_Leu45del) | In-frame deletion | ||||||
| P19 | GC17984 | c.2944delG | p.(Gly982Valfs*39) | Frameshift | c.2291delC | p.(Pro764Leufs*20) | Frameshift | ✓ |
P and GC no = patient identifier; Con. = consanguinity; Hom. = Homozygous; PUV = previously unreported variant; † = same variants; A and B denotes siblings