| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71566439_71570715del | CA1139532913 | DYSF | c.2512-1512_3148del c.2566-1512_3202del c.2515-1512_3151del c.2563-1512_3199del c.2608-1512_3244del c.2473-1512_3109del c.2605-1512_3241del c.2470-1512_3106del n.2766-1512_3402del | |
| 2 | g.71566455_71570716del | CA915942535 | DYSF | c.2512-1496_3149del c.2566-1496_3203del c.2515-1496_3152del c.2563-1496_3200del c.2608-1496_3245del c.2473-1496_3110del c.2605-1496_3242del c.2470-1496_3107del n.2766-1496_3403del | ClinVar |
| 2 | g.71566456_71570715del | CA891842855 | DYSF | c.2512-1495_3148del c.2566-1495_3202del c.2515-1495_3151del c.2563-1495_3199del c.2608-1495_3244del c.2473-1495_3109del c.2605-1495_3241del c.2470-1495_3106del n.2766-1495_3402del | ClinVar |
| 2 | g.71570604del | CA2580067854 | DYSF | c.463del (p.Glu155SerfsTer?) c.3037del (p.Glu1013SerfsTer?) c.3091del (p.Glu1031SerfsTer?) c.3040del (p.Glu1014SerfsTer?) c.3088del (p.Glu1030SerfsTer?) c.3133del (p.Glu1045SerfsTer?) c.2998del (p.Glu1000SerfsTer?) c.3130del (p.Glu1044SerfsTer?) n.203del c.2995del (p.Glu999SerfsTer?) n.3291del | ClinVar |
| 2 | g.71570604G>A | CA347216899 | DYSF | c.463G>A (p.Glu155Lys) c.3037G>A (p.Glu1013Lys) c.3091G>A (p.Glu1031Lys) c.3040G>A (p.Glu1014Lys) c.3088G>A (p.Glu1030Lys) c.3133G>A (p.Glu1045Lys) c.2998G>A (p.Glu1000Lys) c.3130G>A (p.Glu1044Lys) n.203G>A c.2995G>A (p.Glu999Lys) n.3291G>A | COSMIC COSMIC |
| 2 | g.71570604G>C | CA347216897 | DYSF | c.463G>C (p.Glu155Gln) c.3037G>C (p.Glu1013Gln) c.3091G>C (p.Glu1031Gln) c.3040G>C (p.Glu1014Gln) c.3088G>C (p.Glu1030Gln) c.3133G>C (p.Glu1045Gln) c.2998G>C (p.Glu1000Gln) c.3130G>C (p.Glu1044Gln) n.203G>C c.2995G>C (p.Glu999Gln) n.3291G>C | gnomAD v4 |
| 2 | g.71570604G= | CA1260104066 | DYSF | c.463G= (p.Glu155=) c.3037G= (p.Glu1013=) c.3091G= (p.Glu1031=) c.3040G= (p.Glu1014=) c.3088G= (p.Glu1030=) c.3133G= (p.Glu1045=) c.2998G= (p.Glu1000=) c.3130G= (p.Glu1044=) n.203G= c.2995G= (p.Glu999=) n.3291G= | |
| 2 | g.71570604G>T | CA347216898 | DYSF | c.463G>T (p.Glu155Ter) c.3037G>T (p.Glu1013Ter) c.3091G>T (p.Glu1031Ter) c.3040G>T (p.Glu1014Ter) c.3088G>T (p.Glu1030Ter) c.3133G>T (p.Glu1045Ter) c.2998G>T (p.Glu1000Ter) c.3130G>T (p.Glu1044Ter) n.203G>T c.2995G>T (p.Glu999Ter) n.3291G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.71570605A>C | CA347216900 | DYSF | c.464A>C (p.Glu155Ala) c.3038A>C (p.Glu1013Ala) c.3092A>C (p.Glu1031Ala) c.3041A>C (p.Glu1014Ala) c.3089A>C (p.Glu1030Ala) c.3134A>C (p.Glu1045Ala) c.2999A>C (p.Glu1000Ala) c.3131A>C (p.Glu1044Ala) n.204A>C c.2996A>C (p.Glu999Ala) n.3292A>C | |
| 2 | g.71570605A>G | CA347216901 | DYSF | c.464A>G (p.Glu155Gly) c.3038A>G (p.Glu1013Gly) c.3092A>G (p.Glu1031Gly) c.3041A>G (p.Glu1014Gly) c.3089A>G (p.Glu1030Gly) c.3134A>G (p.Glu1045Gly) c.2999A>G (p.Glu1000Gly) c.3131A>G (p.Glu1044Gly) n.204A>G c.2996A>G (p.Glu999Gly) n.3292A>G | ClinVar dbSNP |
| 2 | g.71570605A>T | CA347216902 | DYSF | c.464A>T (p.Glu155Val) c.3038A>T (p.Glu1013Val) c.3092A>T (p.Glu1031Val) c.3041A>T (p.Glu1014Val) c.3089A>T (p.Glu1030Val) c.3134A>T (p.Glu1045Val) c.2999A>T (p.Glu1000Val) c.3131A>T (p.Glu1044Val) n.204A>T c.2996A>T (p.Glu999Val) n.3292A>T | |
| 2 | g.71570606G>A | CA426702044 | DYSF | c.465G>A (p.Glu155=) c.3039G>A (p.Glu1013=) c.3093G>A (p.Glu1031=) c.3042G>A (p.Glu1014=) c.3090G>A (p.Glu1030=) c.3135G>A (p.Glu1045=) c.3000G>A (p.Glu1000=) c.3132G>A (p.Glu1044=) n.205G>A c.2997G>A (p.Glu999=) n.3293G>A | ClinVar dbSNP |
| 2 | g.71570606G>C | CA347216903 | DYSF | c.465G>C (p.Glu155Asp) c.3039G>C (p.Glu1013Asp) c.3093G>C (p.Glu1031Asp) c.3042G>C (p.Glu1014Asp) c.3090G>C (p.Glu1030Asp) c.3135G>C (p.Glu1045Asp) c.3000G>C (p.Glu1000Asp) c.3132G>C (p.Glu1044Asp) n.205G>C c.2997G>C (p.Glu999Asp) n.3293G>C | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.71570606G= | CA1260104067 | DYSF | c.465G= (p.Glu155=) c.3039G= (p.Glu1013=) c.3093G= (p.Glu1031=) c.3042G= (p.Glu1014=) c.3090G= (p.Glu1030=) c.3135G= (p.Glu1045=) c.3000G= (p.Glu1000=) c.3132G= (p.Glu1044=) n.205G= c.2997G= (p.Glu999=) n.3293G= | |
| 2 | g.71570606G>T | CA347216904 | DYSF | c.465G>T (p.Glu155Asp) c.3039G>T (p.Glu1013Asp) c.3093G>T (p.Glu1031Asp) c.3042G>T (p.Glu1014Asp) c.3090G>T (p.Glu1030Asp) c.3135G>T (p.Glu1045Asp) c.3000G>T (p.Glu1000Asp) c.3132G>T (p.Glu1044Asp) n.205G>T c.2997G>T (p.Glu999Asp) n.3293G>T | |
| 2 | g.71570607T>A | CA347216905 | DYSF | c.466T>A (p.Tyr156Asn) c.3040T>A (p.Tyr1014Asn) c.3094T>A (p.Tyr1032Asn) c.3043T>A (p.Tyr1015Asn) c.3091T>A (p.Tyr1031Asn) c.3136T>A (p.Tyr1046Asn) c.3001T>A (p.Tyr1001Asn) c.3133T>A (p.Tyr1045Asn) n.206T>A c.2998T>A (p.Tyr1000Asn) n.3294T>A | |
| 2 | g.71570607T>C | CA347216907 | DYSF | c.466T>C (p.Tyr156His) c.3040T>C (p.Tyr1014His) c.3094T>C (p.Tyr1032His) c.3043T>C (p.Tyr1015His) c.3091T>C (p.Tyr1031His) c.3136T>C (p.Tyr1046His) c.3001T>C (p.Tyr1001His) c.3133T>C (p.Tyr1045His) n.206T>C c.2998T>C (p.Tyr1000His) n.3294T>C | |
| 2 | g.71570607T>G | CA347216906 | DYSF | c.466T>G (p.Tyr156Asp) c.3040T>G (p.Tyr1014Asp) c.3094T>G (p.Tyr1032Asp) c.3043T>G (p.Tyr1015Asp) c.3091T>G (p.Tyr1031Asp) c.3136T>G (p.Tyr1046Asp) c.3001T>G (p.Tyr1001Asp) c.3133T>G (p.Tyr1045Asp) n.206T>G c.2998T>G (p.Tyr1000Asp) n.3294T>G | |
| 2 | g.71570608A= | CA1260104068 | DYSF | c.467A= (p.Tyr156=) c.3041A= (p.Tyr1014=) c.3095A= (p.Tyr1032=) c.3044A= (p.Tyr1015=) c.3092A= (p.Tyr1031=) c.3137A= (p.Tyr1046=) c.3002A= (p.Tyr1001=) c.3134A= (p.Tyr1045=) n.207A= c.2999A= (p.Tyr1000=) n.3295A= | |
| 2 | g.71570608A>C | CA347216908 | DYSF | c.467A>C (p.Tyr156Ser) c.3041A>C (p.Tyr1014Ser) c.3095A>C (p.Tyr1032Ser) c.3044A>C (p.Tyr1015Ser) c.3092A>C (p.Tyr1031Ser) c.3137A>C (p.Tyr1046Ser) c.3002A>C (p.Tyr1001Ser) c.3134A>C (p.Tyr1045Ser) n.207A>C c.2999A>C (p.Tyr1000Ser) n.3295A>C | |
| 2 | g.71570608A>G | CA275155 | DYSF | c.467A>G (p.Tyr156Cys) c.3041A>G (p.Tyr1014Cys) c.3095A>G (p.Tyr1032Cys) c.3044A>G (p.Tyr1015Cys) c.3092A>G (p.Tyr1031Cys) c.3137A>G (p.Tyr1046Cys) c.3002A>G (p.Tyr1001Cys) c.3134A>G (p.Tyr1045Cys) n.207A>G c.2999A>G (p.Tyr1000Cys) n.3295A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71570608A>T | CA347216909 | DYSF | c.467A>T (p.Tyr156Phe) c.3041A>T (p.Tyr1014Phe) c.3095A>T (p.Tyr1032Phe) c.3044A>T (p.Tyr1015Phe) c.3092A>T (p.Tyr1031Phe) c.3137A>T (p.Tyr1046Phe) c.3002A>T (p.Tyr1001Phe) c.3134A>T (p.Tyr1045Phe) n.207A>T c.2999A>T (p.Tyr1000Phe) n.3295A>T | |
| 2 | g.71570609T>A | CA347216910 | DYSF | c.468T>A (p.Tyr156Ter) c.3042T>A (p.Tyr1014Ter) c.3096T>A (p.Tyr1032Ter) c.3045T>A (p.Tyr1015Ter) c.3093T>A (p.Tyr1031Ter) c.3138T>A (p.Tyr1046Ter) c.3003T>A (p.Tyr1001Ter) c.3135T>A (p.Tyr1045Ter) n.208T>A c.3000T>A (p.Tyr1000Ter) n.3296T>A | |
| 2 | g.71570609T>C | CA426702045 | DYSF | c.468T>C (p.Tyr156=) c.3042T>C (p.Tyr1014=) c.3096T>C (p.Tyr1032=) c.3045T>C (p.Tyr1015=) c.3093T>C (p.Tyr1031=) c.3138T>C (p.Tyr1046=) c.3003T>C (p.Tyr1001=) c.3135T>C (p.Tyr1045=) n.208T>C c.3000T>C (p.Tyr1000=) n.3296T>C | ClinVar dbSNP gnomAD v4 |
| 2 | g.71570609T>G | CA347216911 | DYSF | c.468T>G (p.Tyr156Ter) c.3042T>G (p.Tyr1014Ter) c.3096T>G (p.Tyr1032Ter) c.3045T>G (p.Tyr1015Ter) c.3093T>G (p.Tyr1031Ter) c.3138T>G (p.Tyr1046Ter) c.3003T>G (p.Tyr1001Ter) c.3135T>G (p.Tyr1045Ter) n.208T>G c.3000T>G (p.Tyr1000Ter) n.3296T>G | |
| 2 | g.71570609T= | CA1260104069 | DYSF | c.468T= (p.Tyr156=) c.3042T= (p.Tyr1014=) c.3096T= (p.Tyr1032=) c.3045T= (p.Tyr1015=) c.3093T= (p.Tyr1031=) c.3138T= (p.Tyr1046=) c.3003T= (p.Tyr1001=) c.3135T= (p.Tyr1045=) n.208T= c.3000T= (p.Tyr1000=) n.3296T= | |
| 2 | g.71570609dup | CA913090723 | DYSF | c.468dup (p.Ser157Ter) c.3042dup (p.Ser1015Ter) c.3096dup (p.Ser1033Ter) c.3045dup (p.Ser1016Ter) c.3093dup (p.Ser1032Ter) c.3138dup (p.Ser1047Ter) c.3003dup (p.Ser1002Ter) c.3135dup (p.Ser1046Ter) n.208dup c.3000dup (p.Ser1001Ter) n.3296dup | |
| 2 | g.71570610A= | CA1260104070 | DYSF | c.469A= (p.Ser157=) c.3043A= (p.Ser1015=) c.3097A= (p.Ser1033=) c.3046A= (p.Ser1016=) c.3094A= (p.Ser1032=) c.3139A= (p.Ser1047=) c.3004A= (p.Ser1002=) c.3136A= (p.Ser1046=) n.209A= c.3001A= (p.Ser1001=) n.3297A= | |
| 2 | g.71570610A>C | CA347216912 | DYSF | c.469A>C (p.Ser157Arg) c.3043A>C (p.Ser1015Arg) c.3097A>C (p.Ser1033Arg) c.3046A>C (p.Ser1016Arg) c.3094A>C (p.Ser1032Arg) c.3139A>C (p.Ser1047Arg) c.3004A>C (p.Ser1002Arg) c.3136A>C (p.Ser1046Arg) n.209A>C c.3001A>C (p.Ser1001Arg) n.3297A>C | |
| 2 | g.71570610A>G | CA1706421 | DYSF | c.469A>G (p.Ser157Gly) c.3043A>G (p.Ser1015Gly) c.3097A>G (p.Ser1033Gly) c.3046A>G (p.Ser1016Gly) c.3094A>G (p.Ser1032Gly) c.3139A>G (p.Ser1047Gly) c.3004A>G (p.Ser1002Gly) c.3136A>G (p.Ser1046Gly) n.209A>G c.3001A>G (p.Ser1001Gly) n.3297A>G | dbSNP ExAC gnomAD v2 |
| 2 | g.71570610A>T | CA347216913 | DYSF | c.469A>T (p.Ser157Cys) c.3043A>T (p.Ser1015Cys) c.3097A>T (p.Ser1033Cys) c.3046A>T (p.Ser1016Cys) c.3094A>T (p.Ser1032Cys) c.3139A>T (p.Ser1047Cys) c.3004A>T (p.Ser1002Cys) c.3136A>T (p.Ser1046Cys) n.209A>T c.3001A>T (p.Ser1001Cys) n.3297A>T | |
| 2 | g.71570611_71570613dup | CA2659549629 | DYSF | c.470_472dup (p.Ser157_Ile158insSer) c.3044_3046dup (p.Ser1015_Ile1016insSer) c.3098_3100dup (p.Ser1033_Ile1034insSer) c.3047_3049dup (p.Ser1016_Ile1017insSer) c.3095_3097dup (p.Ser1032_Ile1033insSer) c.3140_3142dup (p.Ser1047_Ile1048insSer) c.3005_3007dup (p.Ser1002_Ile1003insSer) c.3137_3139dup (p.Ser1046_Ile1047insSer) n.210_212dup c.3002_3004dup (p.Ser1001_Ile1002insSer) n.3298_3300dup | gnomAD v4 |
| 2 | g.71570611_71570616dup | CA658822442 | DYSF | c.470_475dup (p.Ile158_Thr159insSerIle) c.3044_3049dup (p.Ile1016_Thr1017insSerIle) c.3098_3103dup (p.Ile1034_Thr1035insSerIle) c.3047_3052dup (p.Ile1017_Thr1018insSerIle) c.3095_3100dup (p.Ile1033_Thr1034insSerIle) c.3140_3145dup (p.Ile1048_Thr1049insSerIle) c.3005_3010dup (p.Ile1003_Thr1004insSerIle) c.3137_3142dup (p.Ile1047_Thr1048insSerIle) n.210_215dup c.3002_3007dup (p.Ile1002_Thr1003insSerIle) n.3298_3303dup | ClinVar dbSNP |
| 2 | g.71570611G>A | CA347216914 | DYSF | c.470G>A (p.Ser157Asn) c.3044G>A (p.Ser1015Asn) c.3098G>A (p.Ser1033Asn) c.3047G>A (p.Ser1016Asn) c.3095G>A (p.Ser1032Asn) c.3140G>A (p.Ser1047Asn) c.3005G>A (p.Ser1002Asn) c.3137G>A (p.Ser1046Asn) n.210G>A c.3002G>A (p.Ser1001Asn) n.3298G>A | gnomAD v4 |
| 2 | g.71570611G>C | CA347216915 | DYSF | c.470G>C (p.Ser157Thr) c.3044G>C (p.Ser1015Thr) c.3098G>C (p.Ser1033Thr) c.3047G>C (p.Ser1016Thr) c.3095G>C (p.Ser1032Thr) c.3140G>C (p.Ser1047Thr) c.3005G>C (p.Ser1002Thr) c.3137G>C (p.Ser1046Thr) n.210G>C c.3002G>C (p.Ser1001Thr) n.3298G>C | |
| 2 | g.71570611G>T | CA347216916 | DYSF | c.470G>T (p.Ser157Ile) c.3044G>T (p.Ser1015Ile) c.3098G>T (p.Ser1033Ile) c.3047G>T (p.Ser1016Ile) c.3095G>T (p.Ser1032Ile) c.3140G>T (p.Ser1047Ile) c.3005G>T (p.Ser1002Ile) c.3137G>T (p.Ser1046Ile) n.210G>T c.3002G>T (p.Ser1001Ile) n.3298G>T | |
| 2 | g.71570612C>A | CA347216917 | DYSF | c.471C>A (p.Ser157Arg) c.3045C>A (p.Ser1015Arg) c.3099C>A (p.Ser1033Arg) c.3048C>A (p.Ser1016Arg) c.3096C>A (p.Ser1032Arg) c.3141C>A (p.Ser1047Arg) c.3006C>A (p.Ser1002Arg) c.3138C>A (p.Ser1046Arg) n.211C>A c.3003C>A (p.Ser1001Arg) n.3299C>A | |
| 2 | g.71570612C= | CA1260104071 | DYSF | c.471C= (p.Ser157=) c.3045C= (p.Ser1015=) c.3099C= (p.Ser1033=) c.3048C= (p.Ser1016=) c.3096C= (p.Ser1032=) c.3141C= (p.Ser1047=) c.3006C= (p.Ser1002=) c.3138C= (p.Ser1046=) n.211C= c.3003C= (p.Ser1001=) n.3299C= | |
| 2 | g.71570612C>G | CA347216918 | DYSF | c.471C>G (p.Ser157Arg) c.3045C>G (p.Ser1015Arg) c.3099C>G (p.Ser1033Arg) c.3048C>G (p.Ser1016Arg) c.3096C>G (p.Ser1032Arg) c.3141C>G (p.Ser1047Arg) c.3006C>G (p.Ser1002Arg) c.3138C>G (p.Ser1046Arg) n.211C>G c.3003C>G (p.Ser1001Arg) n.3299C>G | dbSNP |
| 2 | g.71570612C>T | CA426702046 | DYSF | c.471C>T (p.Ser157=) c.3045C>T (p.Ser1015=) c.3099C>T (p.Ser1033=) c.3048C>T (p.Ser1016=) c.3096C>T (p.Ser1032=) c.3141C>T (p.Ser1047=) c.3006C>T (p.Ser1002=) c.3138C>T (p.Ser1046=) n.211C>T c.3003C>T (p.Ser1001=) n.3299C>T | |
| 2 | g.71570613A>C | CA347216919 | DYSF | c.472A>C (p.Ile158Leu) c.3046A>C (p.Ile1016Leu) c.3100A>C (p.Ile1034Leu) c.3049A>C (p.Ile1017Leu) c.3097A>C (p.Ile1033Leu) c.3142A>C (p.Ile1048Leu) c.3007A>C (p.Ile1003Leu) c.3139A>C (p.Ile1047Leu) n.212A>C c.3004A>C (p.Ile1002Leu) n.3300A>C | |
| 2 | g.71570613A>G | CA347216921 | DYSF | c.472A>G (p.Ile158Val) c.3046A>G (p.Ile1016Val) c.3100A>G (p.Ile1034Val) c.3049A>G (p.Ile1017Val) c.3097A>G (p.Ile1033Val) c.3142A>G (p.Ile1048Val) c.3007A>G (p.Ile1003Val) c.3139A>G (p.Ile1047Val) n.212A>G c.3004A>G (p.Ile1002Val) n.3300A>G | |
| 2 | g.71570613A>T | CA347216920 | DYSF | c.472A>T (p.Ile158Phe) c.3046A>T (p.Ile1016Phe) c.3100A>T (p.Ile1034Phe) c.3049A>T (p.Ile1017Phe) c.3097A>T (p.Ile1033Phe) c.3142A>T (p.Ile1048Phe) c.3007A>T (p.Ile1003Phe) c.3139A>T (p.Ile1047Phe) n.212A>T c.3004A>T (p.Ile1002Phe) n.3300A>T | |
| 2 | g.71570614T>A | CA347216922 | DYSF | c.473T>A (p.Ile158Asn) c.3047T>A (p.Ile1016Asn) c.3101T>A (p.Ile1034Asn) c.3050T>A (p.Ile1017Asn) c.3098T>A (p.Ile1033Asn) c.3143T>A (p.Ile1048Asn) c.3008T>A (p.Ile1003Asn) c.3140T>A (p.Ile1047Asn) n.213T>A c.3005T>A (p.Ile1002Asn) n.3301T>A | |
| 2 | g.71570614T>C | CA1706422 | DYSF | c.473T>C (p.Ile158Thr) c.3047T>C (p.Ile1016Thr) c.3101T>C (p.Ile1034Thr) c.3050T>C (p.Ile1017Thr) c.3098T>C (p.Ile1033Thr) c.3143T>C (p.Ile1048Thr) c.3008T>C (p.Ile1003Thr) c.3140T>C (p.Ile1047Thr) n.213T>C c.3005T>C (p.Ile1002Thr) n.3301T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.71570614T>G | CA347216923 | DYSF | c.473T>G (p.Ile158Ser) c.3047T>G (p.Ile1016Ser) c.3101T>G (p.Ile1034Ser) c.3050T>G (p.Ile1017Ser) c.3098T>G (p.Ile1033Ser) c.3143T>G (p.Ile1048Ser) c.3008T>G (p.Ile1003Ser) c.3140T>G (p.Ile1047Ser) n.213T>G c.3005T>G (p.Ile1002Ser) n.3301T>G | |
| 2 | g.71570614T= | CA1260104072 | DYSF | c.473T= (p.Ile158=) c.3047T= (p.Ile1016=) c.3101T= (p.Ile1034=) c.3050T= (p.Ile1017=) c.3098T= (p.Ile1033=) c.3143T= (p.Ile1048=) c.3008T= (p.Ile1003=) c.3140T= (p.Ile1047=) n.213T= c.3005T= (p.Ile1002=) n.3301T= | |
| 2 | g.71570615C>A | CA426702047 | DYSF | c.474C>A (p.Ile158=) c.3048C>A (p.Ile1016=) c.3102C>A (p.Ile1034=) c.3051C>A (p.Ile1017=) c.3099C>A (p.Ile1033=) c.3144C>A (p.Ile1048=) c.3009C>A (p.Ile1003=) c.3141C>A (p.Ile1047=) n.214C>A c.3006C>A (p.Ile1002=) n.3302C>A | |
| 2 | g.71570615C= | CA1260104073 | DYSF | c.474C= (p.Ile158=) c.3048C= (p.Ile1016=) c.3102C= (p.Ile1034=) c.3051C= (p.Ile1017=) c.3099C= (p.Ile1033=) c.3144C= (p.Ile1048=) c.3009C= (p.Ile1003=) c.3141C= (p.Ile1047=) n.214C= c.3006C= (p.Ile1002=) n.3302C= | |
| 2 | g.71570615C>G | CA1706423 | DYSF | c.474C>G (p.Ile158Met) c.3048C>G (p.Ile1016Met) c.3102C>G (p.Ile1034Met) c.3051C>G (p.Ile1017Met) c.3099C>G (p.Ile1033Met) c.3144C>G (p.Ile1048Met) c.3009C>G (p.Ile1003Met) c.3141C>G (p.Ile1047Met) n.214C>G c.3006C>G (p.Ile1002Met) n.3302C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |