Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.101753344_101753345dup | CA2620425935 | GNPTAB | c.3602+33_3602+34dup (n.3602+33_3602+34dup) c.500+33_500+34dup (n.500+33_500+34dup) c.3521+33_3521+34dup (n.3521+33_3521+34dup) c.3386+33_3386+34dup (n.3386+33_3386+34dup) c.2375+33_2375+34dup (n.2375+33_2375+34dup) | gnomAD v4 |
12 | g.101753340C= | CA2058950518 | GNPTAB | c.3602+32G= (n.3602+32G=) c.500+32G= (n.500+32G=) c.3521+32G= (n.3521+32G=) c.3386+32G= (n.3386+32G=) c.2375+32G= (n.2375+32G=) | |
12 | g.101753340C>T | CA6746108 | GNPTAB | c.3602+32G>A (n.3602+32G>A) c.500+32G>A (n.500+32G>A) c.3521+32G>A (n.3521+32G>A) c.3386+32G>A (n.3386+32G>A) c.2375+32G>A (n.2375+32G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101753342C>T | CA2620425942 | GNPTAB | c.3602+30G>A (n.3602+30G>A) c.500+30G>A (n.500+30G>A) c.3521+30G>A (n.3521+30G>A) c.3386+30G>A (n.3386+30G>A) c.2375+30G>A (n.2375+30G>A) | gnomAD v4 |
12 | g.101753346T>C | CA2058950520 | GNPTAB | c.3602+26A>G (n.3602+26A>G) c.500+26A>G (n.500+26A>G) c.3521+26A>G (n.3521+26A>G) c.3386+26A>G (n.3386+26A>G) c.2375+26A>G (n.2375+26A>G) | dbSNP |
12 | g.101753346T= | CA2058950519 | GNPTAB | c.3602+26A= (n.3602+26A=) c.500+26A= (n.500+26A=) c.3521+26A= (n.3521+26A=) c.3386+26A= (n.3386+26A=) c.2375+26A= (n.2375+26A=) | |
12 | g.101753347G>A | CA2620425944 | GNPTAB | c.3602+25C>T (n.3602+25C>T) c.500+25C>T (n.500+25C>T) c.3521+25C>T (n.3521+25C>T) c.3386+25C>T (n.3386+25C>T) c.2375+25C>T (n.2375+25C>T) | gnomAD v4 |
12 | g.101753347G>T | CA2620425945 | GNPTAB | c.3602+25C>A (n.3602+25C>A) c.500+25C>A (n.500+25C>A) c.3521+25C>A (n.3521+25C>A) c.3386+25C>A (n.3386+25C>A) c.2375+25C>A (n.2375+25C>A) | gnomAD v4 |
12 | g.101753348C>A | CA6746109 | GNPTAB | c.3602+24G>T (n.3602+24G>T) c.500+24G>T (n.500+24G>T) c.3521+24G>T (n.3521+24G>T) c.3386+24G>T (n.3386+24G>T) c.2375+24G>T (n.2375+24G>T) | dbSNP ExAC |
12 | g.101753348C= | CA2058950521 | GNPTAB | c.3602+24G= (n.3602+24G=) c.500+24G= (n.500+24G=) c.3521+24G= (n.3521+24G=) c.3386+24G= (n.3386+24G=) c.2375+24G= (n.2375+24G=) | |
12 | g.101753349A= | CA2058950522 | GNPTAB | c.3602+23T= (n.3602+23T=) c.500+23T= (n.500+23T=) c.3521+23T= (n.3521+23T=) c.3386+23T= (n.3386+23T=) c.2375+23T= (n.2375+23T=) | |
12 | g.101753349A>G | CA682777098 | GNPTAB | c.3602+23T>C (n.3602+23T>C) c.500+23T>C (n.500+23T>C) c.3521+23T>C (n.3521+23T>C) c.3386+23T>C (n.3386+23T>C) c.2375+23T>C (n.2375+23T>C) | dbSNP gnomAD v4 |
12 | g.101753354_101753355del | CA2575264807 | GNPTAB | c.3602+22_3602+23del (n.3602+22_3602+23del) c.500+22_500+23del (n.500+22_500+23del) c.3521+22_3521+23del (n.3521+22_3521+23del) c.3386+22_3386+23del (n.3386+22_3386+23del) c.2375+22_2375+23del (n.2375+22_2375+23del) | |
12 | g.101753351A>G | CA2620425946 | GNPTAB | c.3602+21T>C (n.3602+21T>C) c.500+21T>C (n.500+21T>C) c.3521+21T>C (n.3521+21T>C) c.3386+21T>C (n.3386+21T>C) c.2375+21T>C (n.2375+21T>C) | gnomAD v4 |
12 | g.101753352T>C | CA607597896 | GNPTAB | c.3602+20A>G (n.3602+20A>G) c.500+20A>G (n.500+20A>G) c.3521+20A>G (n.3521+20A>G) c.3386+20A>G (n.3386+20A>G) c.2375+20A>G (n.2375+20A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.101753352T= | CA2058950523 | GNPTAB | c.3602+20A= (n.3602+20A=) c.500+20A= (n.500+20A=) c.3521+20A= (n.3521+20A=) c.3386+20A= (n.3386+20A=) c.2375+20A= (n.2375+20A=) | |
12 | g.101753353A>G | CA2620425947 | GNPTAB | c.3602+19T>C (n.3602+19T>C) c.500+19T>C (n.500+19T>C) c.3521+19T>C (n.3521+19T>C) c.3386+19T>C (n.3386+19T>C) c.2375+19T>C (n.2375+19T>C) | gnomAD v4 |
12 | g.101753354T>C | CA607597897 | GNPTAB | c.3602+18A>G (n.3602+18A>G) c.500+18A>G (n.500+18A>G) c.3521+18A>G (n.3521+18A>G) c.3386+18A>G (n.3386+18A>G) c.2375+18A>G (n.2375+18A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.101753354T= | CA2058950524 | GNPTAB | c.3602+18A= (n.3602+18A=) c.500+18A= (n.500+18A=) c.3521+18A= (n.3521+18A=) c.3386+18A= (n.3386+18A=) c.2375+18A= (n.2375+18A=) | |
12 | g.101753356A>G | CA2575264808 | GNPTAB | c.3602+16T>C (n.3602+16T>C) c.500+16T>C (n.500+16T>C) c.3521+16T>C (n.3521+16T>C) c.3386+16T>C (n.3386+16T>C) c.2375+16T>C (n.2375+16T>C) | |
12 | g.101753357A= | CA2058950525 | GNPTAB | c.3602+15T= (n.3602+15T=) c.500+15T= (n.500+15T=) c.3521+15T= (n.3521+15T=) c.3386+15T= (n.3386+15T=) c.2375+15T= (n.2375+15T=) | |
12 | g.101753357A>C | CA6746110 | GNPTAB | c.3602+15T>G (n.3602+15T>G) c.500+15T>G (n.500+15T>G) c.3521+15T>G (n.3521+15T>G) c.3386+15T>G (n.3386+15T>G) c.2375+15T>G (n.2375+15T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101753357A>G | CA6746111 | GNPTAB | c.3602+15T>C (n.3602+15T>C) c.500+15T>C (n.500+15T>C) c.3521+15T>C (n.3521+15T>C) c.3386+15T>C (n.3386+15T>C) c.2375+15T>C (n.2375+15T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101753357A>T | CA2740092542 | GNPTAB | c.3602+15T>A (n.3602+15T>A) c.500+15T>A (n.500+15T>A) c.3521+15T>A (n.3521+15T>A) c.3386+15T>A (n.3386+15T>A) c.2375+15T>A (n.2375+15T>A) | ClinVar |
12 | g.101753360A>C | CA2575264809 | GNPTAB | c.3602+12T>G (n.3602+12T>G) c.500+12T>G (n.500+12T>G) c.3521+12T>G (n.3521+12T>G) c.3386+12T>G (n.3386+12T>G) c.2375+12T>G (n.2375+12T>G) | ClinVar gnomAD v4 |
12 | g.101753361T>C | CA2797209390 | GNPTAB | c.3602+11A>G (n.3602+11A>G) c.500+11A>G (n.500+11A>G) c.3521+11A>G (n.3521+11A>G) c.3386+11A>G (n.3386+11A>G) c.2375+11A>G (n.2375+11A>G) | |
12 | g.101753361T>G | CA607597898 | GNPTAB | c.3602+11A>C (n.3602+11A>C) c.500+11A>C (n.500+11A>C) c.3521+11A>C (n.3521+11A>C) c.3386+11A>C (n.3386+11A>C) c.2375+11A>C (n.2375+11A>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101753361T= | CA2058950526 | GNPTAB | c.3602+11A= (n.3602+11A=) c.500+11A= (n.500+11A=) c.3521+11A= (n.3521+11A=) c.3386+11A= (n.3386+11A=) c.2375+11A= (n.2375+11A=) | |
12 | g.101753362G>A | CA6746112 | GNPTAB | c.3602+10C>T (n.3602+10C>T) c.500+10C>T (n.500+10C>T) c.3521+10C>T (n.3521+10C>T) c.3386+10C>T (n.3386+10C>T) c.2375+10C>T (n.2375+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101753362G= | CA2058950527 | GNPTAB | c.3602+10C= (n.3602+10C=) c.500+10C= (n.500+10C=) c.3521+10C= (n.3521+10C=) c.3386+10C= (n.3386+10C=) c.2375+10C= (n.2375+10C=) | |
12 | g.101753363A>G | CA2620425957 | GNPTAB | c.3602+9T>C (n.3602+9T>C) c.500+9T>C (n.500+9T>C) c.3521+9T>C (n.3521+9T>C) c.3386+9T>C (n.3386+9T>C) c.2375+9T>C (n.2375+9T>C) | gnomAD v4 |
12 | g.101753364G>A | CA2581100832 | GNPTAB | c.3602+8C>T (n.3602+8C>T) c.500+8C>T (n.500+8C>T) c.3521+8C>T (n.3521+8C>T) c.3386+8C>T (n.3386+8C>T) c.2375+8C>T (n.2375+8C>T) | |
12 | g.101753364G>C | CA2581100831 | GNPTAB | c.3602+8C>G (n.3602+8C>G) c.500+8C>G (n.500+8C>G) c.3521+8C>G (n.3521+8C>G) c.3386+8C>G (n.3386+8C>G) c.2375+8C>G (n.2375+8C>G) | |
12 | g.101753364G= | CA2058950528 | GNPTAB | c.3602+8C= (n.3602+8C=) c.500+8C= (n.500+8C=) c.3521+8C= (n.3521+8C=) c.3386+8C= (n.3386+8C=) c.2375+8C= (n.2375+8C=) | |
12 | g.101753364G>T | CA149259 | GNPTAB | c.3602+8C>A (n.3602+8C>A) c.500+8C>A (n.500+8C>A) c.3521+8C>A (n.3521+8C>A) c.3386+8C>A (n.3386+8C>A) c.2375+8C>A (n.2375+8C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101753365A>T | CA2620425961 | GNPTAB | c.3602+7T>A (n.3602+7T>A) c.500+7T>A (n.500+7T>A) c.3521+7T>A (n.3521+7T>A) c.3386+7T>A (n.3386+7T>A) c.2375+7T>A (n.2375+7T>A) | gnomAD v4 |
12 | g.101753367T>A | CA2575264811 | GNPTAB | c.3602+5A>T (n.3602+5A>T) c.500+5A>T (n.500+5A>T) c.3521+5A>T (n.3521+5A>T) c.3386+5A>T (n.3386+5A>T) c.2375+5A>T (n.2375+5A>T) | |
12 | g.101753368T>C | CA682777129 | GNPTAB | c.3602+4A>G (n.3602+4A>G) c.500+4A>G (n.500+4A>G) c.3521+4A>G (n.3521+4A>G) c.3386+4A>G (n.3386+4A>G) c.2375+4A>G (n.2375+4A>G) | dbSNP |
12 | g.101753368T= | CA2058950529 | GNPTAB | c.3602+4A= (n.3602+4A=) c.500+4A= (n.500+4A=) c.3521+4A= (n.3521+4A=) c.3386+4A= (n.3386+4A=) c.2375+4A= (n.2375+4A=) | |
12 | g.101753370A= | CA2058950530 | GNPTAB | c.3602+2T= (n.3602+2T=) c.500+2T= (n.500+2T=) c.3521+2T= (n.3521+2T=) c.3386+2T= (n.3386+2T=) c.2375+2T= (n.2375+2T=) | |
12 | g.101753370A>C | CA386292101 | GNPTAB | c.3602+2T>G (n.3602+2T>G) c.500+2T>G (n.500+2T>G) c.3521+2T>G (n.3521+2T>G) c.3386+2T>G (n.3386+2T>G) c.2375+2T>G (n.2375+2T>G) | |
12 | g.101753370A>G | CA386292103 | GNPTAB | c.3602+2T>C (n.3602+2T>C) c.500+2T>C (n.500+2T>C) c.3521+2T>C (n.3521+2T>C) c.3386+2T>C (n.3386+2T>C) c.2375+2T>C (n.2375+2T>C) | gnomAD v4 |
12 | g.101753370A>T | CA386292102 | GNPTAB | c.3602+2T>A (n.3602+2T>A) c.500+2T>A (n.500+2T>A) c.3521+2T>A (n.3521+2T>A) c.3386+2T>A (n.3386+2T>A) c.2375+2T>A (n.2375+2T>A) | ClinVar dbSNP |
12 | g.101753371C>A | CA386292104 | GNPTAB | c.3602+1G>T (n.3602+1G>T) c.500+1G>T (n.500+1G>T) c.3521+1G>T (n.3521+1G>T) c.3386+1G>T (n.3386+1G>T) c.2375+1G>T (n.2375+1G>T) | |
12 | g.101753371C>G | CA386292105 | GNPTAB | c.3602+1G>C (n.3602+1G>C) c.500+1G>C (n.500+1G>C) c.3521+1G>C (n.3521+1G>C) c.3386+1G>C (n.3386+1G>C) c.2375+1G>C (n.2375+1G>C) | |
12 | g.101753371C>T | CA386292106 | GNPTAB | c.3602+1G>A (n.3602+1G>A) c.500+1G>A (n.500+1G>A) c.3521+1G>A (n.3521+1G>A) c.3386+1G>A (n.3386+1G>A) c.2375+1G>A (n.2375+1G>A) | |
12 | g.101753372C>A | CA386292107 | GNPTAB | c.3602G>T (p.Trp1201Leu) c.500G>T (n.500G>T) c.3521G>T (p.Trp1174Leu) c.3386G>T (p.Trp1129Leu) c.2375G>T (p.Trp792Leu) | |
12 | g.101753372C= | CA2058950531 | GNPTAB | c.3602G= (p.Trp1201=) c.500G= (n.500G=) c.3521G= (p.Trp1174=) c.3386G= (p.Trp1129=) c.2375G= (p.Trp792=) | |
12 | g.101753372C>G | CA386292108 | GNPTAB | c.3602G>C (p.Trp1201Ser) c.500G>C (n.500G>C) c.3521G>C (p.Trp1174Ser) c.3386G>C (p.Trp1129Ser) c.2375G>C (p.Trp792Ser) | |
12 | g.101753372C>T | CA386292109 | GNPTAB | c.3602G>A (p.Trp1201Ter) c.500G>A (n.500G>A) c.3521G>A (p.Trp1174Ter) c.3386G>A (p.Trp1129Ter) c.2375G>A (p.Trp792Ter) | ClinVar dbSNP gnomAD v4 |
12 | g.101753373A>C | CA386292110 | GNPTAB | c.3601T>G (p.Trp1201Gly) c.499T>G (n.499T>G) c.3520T>G (p.Trp1174Gly) c.3385T>G (p.Trp1129Gly) c.2374T>G (p.Trp792Gly) | |
12 | g.101753373A>G | CA386292111 | GNPTAB | c.3601T>C (p.Trp1201Arg) c.499T>C (n.499T>C) c.3520T>C (p.Trp1174Arg) c.3385T>C (p.Trp1129Arg) c.2374T>C (p.Trp792Arg) | |
12 | g.101753373A>T | CA386292112 | GNPTAB | c.3601T>A (p.Trp1201Arg) c.499T>A (n.499T>A) c.3520T>A (p.Trp1174Arg) c.3385T>A (p.Trp1129Arg) c.2374T>A (p.Trp792Arg) | |
12 | g.101753374T>A | CA386292113 | GNPTAB | c.3600A>T (p.Glu1200Asp) c.498A>T (n.498A>T) c.3519A>T (p.Glu1173Asp) c.3384A>T (p.Glu1128Asp) c.2373A>T (p.Glu791Asp) | |
12 | g.101753374T>C | CA481317510 | GNPTAB | c.3600A>G (p.Glu1200=) c.498A>G (n.498A>G) c.3519A>G (p.Glu1173=) c.3384A>G (p.Glu1128=) c.2373A>G (p.Glu791=) | |
12 | g.101753374T>G | CA386292114 | GNPTAB | c.3600A>C (p.Glu1200Asp) c.498A>C (n.498A>C) c.3519A>C (p.Glu1173Asp) c.3384A>C (p.Glu1128Asp) c.2373A>C (p.Glu791Asp) | |
12 | g.101753375T>A | CA386292117 | GNPTAB | c.3599A>T (p.Glu1200Val) c.497A>T (n.497A>T) c.3518A>T (p.Glu1173Val) c.3383A>T (p.Glu1128Val) c.2372A>T (p.Glu791Val) | |
12 | g.101753375T>C | CA386292116 | GNPTAB | c.3599A>G (p.Glu1200Gly) c.497A>G (n.497A>G) c.3518A>G (p.Glu1173Gly) c.3383A>G (p.Glu1128Gly) c.2372A>G (p.Glu791Gly) | |
12 | g.101753375T>G | CA386292115 | GNPTAB | c.3599A>C (p.Glu1200Ala) c.497A>C (n.497A>C) c.3518A>C (p.Glu1173Ala) c.3383A>C (p.Glu1128Ala) c.2372A>C (p.Glu791Ala) | |
12 | g.101753376C>A | CA386292118 | GNPTAB | c.3598G>T (p.Glu1200Ter) c.496G>T (n.496G>T) c.3517G>T (p.Glu1173Ter) c.3382G>T (p.Glu1128Ter) c.2371G>T (p.Glu791Ter) | ClinVar |
12 | g.101753376C= | CA2058950532 | GNPTAB | c.3598G= (p.Glu1200=) c.496G= (n.496G=) c.3517G= (p.Glu1173=) c.3382G= (p.Glu1128=) c.2371G= (p.Glu791=) | |
12 | g.101753376C>G | CA386292119 | GNPTAB | c.3598G>C (p.Glu1200Gln) c.496G>C (n.496G>C) c.3517G>C (p.Glu1173Gln) c.3382G>C (p.Glu1128Gln) c.2371G>C (p.Glu791Gln) | |
12 | g.101753376C>T | CA149257 | GNPTAB | c.3598G>A (p.Glu1200Lys) c.496G>A (n.496G>A) c.3517G>A (p.Glu1173Lys) c.3382G>A (p.Glu1128Lys) c.2371G>A (p.Glu791Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101753377C>A | CA386292120 | GNPTAB | c.3597G>T (p.Gln1199His) c.495G>T (n.495G>T) c.3516G>T (p.Gln1172His) c.3381G>T (p.Gln1127His) c.2370G>T (p.Gln790His) | |
12 | g.101753377C= | CA2058950533 | GNPTAB | c.3597G= (p.Gln1199=) c.495G= (n.495G=) c.3516G= (p.Gln1172=) c.3381G= (p.Gln1127=) c.2370G= (p.Gln790=) | |
12 | g.101753377C>G | CA386292121 | GNPTAB | c.3597G>C (p.Gln1199His) c.495G>C (n.495G>C) c.3516G>C (p.Gln1172His) c.3381G>C (p.Gln1127His) c.2370G>C (p.Gln790His) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101753377C>T | CA6746113 | GNPTAB | c.3597G>A (p.Gln1199=) c.495G>A (n.495G>A) c.3516G>A (p.Gln1172=) c.3381G>A (p.Gln1127=) c.2370G>A (p.Gln790=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101753378T>A | CA386292122 | GNPTAB | c.3596A>T (p.Gln1199Leu) c.494A>T (n.494A>T) c.3515A>T (p.Gln1172Leu) c.3380A>T (p.Gln1127Leu) c.2369A>T (p.Gln790Leu) | |
12 | g.101753378T>C | CA386292123 | GNPTAB | c.3596A>G (p.Gln1199Arg) c.494A>G (n.494A>G) c.3515A>G (p.Gln1172Arg) c.3380A>G (p.Gln1127Arg) c.2369A>G (p.Gln790Arg) | |
12 | g.101753378T>G | CA386292124 | GNPTAB | c.3596A>C (p.Gln1199Pro) c.494A>C (n.494A>C) c.3515A>C (p.Gln1172Pro) c.3380A>C (p.Gln1127Pro) c.2369A>C (p.Gln790Pro) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101753378T= | CA2058950534 | GNPTAB | c.3596A= (p.Gln1199=) c.494A= (n.494A=) c.3515A= (p.Gln1172=) c.3380A= (p.Gln1127=) c.2369A= (p.Gln790=) | |
12 | g.101753379G>A | CA386292125 | GNPTAB | c.3595C>T (p.Gln1199Ter) c.493C>T (n.493C>T) c.3514C>T (p.Gln1172Ter) c.3379C>T (p.Gln1127Ter) c.2368C>T (p.Gln790Ter) | ClinVar |
12 | g.101753379G>C | CA386292127 | GNPTAB | c.3595C>G (p.Gln1199Glu) c.493C>G (n.493C>G) c.3514C>G (p.Gln1172Glu) c.3379C>G (p.Gln1127Glu) c.2368C>G (p.Gln790Glu) | |
12 | g.101753379G>T | CA386292128 | GNPTAB | c.3595C>A (p.Gln1199Lys) c.493C>A (n.493C>A) c.3514C>A (p.Gln1172Lys) c.3379C>A (p.Gln1127Lys) c.2368C>A (p.Gln790Lys) | |
12 | g.101753380C>A | CA481317511 | GNPTAB | c.3594G>T (p.Leu1198=) c.492G>T (n.492G>T) c.3513G>T (p.Leu1171=) c.3378G>T (p.Leu1126=) c.2367G>T (p.Leu789=) | |
12 | g.101753380C= | CA2058950535 | GNPTAB | c.3594G= (p.Leu1198=) c.492G= (n.492G=) c.3513G= (p.Leu1171=) c.3378G= (p.Leu1126=) c.2367G= (p.Leu789=) | |
12 | g.101753380C>G | CA481317512 | GNPTAB | c.3594G>C (p.Leu1198=) c.492G>C (n.492G>C) c.3513G>C (p.Leu1171=) c.3378G>C (p.Leu1126=) c.2367G>C (p.Leu789=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101753380C>T | CA481317513 | GNPTAB | c.3594G>A (p.Leu1198=) c.492G>A (n.492G>A) c.3513G>A (p.Leu1171=) c.3378G>A (p.Leu1126=) c.2367G>A (p.Leu789=) | |
12 | g.101753381A>C | CA386292131 | GNPTAB | c.3593T>G (p.Leu1198Arg) c.491T>G (n.491T>G) c.3512T>G (p.Leu1171Arg) c.3377T>G (p.Leu1126Arg) c.2366T>G (p.Leu789Arg) | |
12 | g.101753381A>G | CA386292130 | GNPTAB | c.3593T>C (p.Leu1198Pro) c.491T>C (n.491T>C) c.3512T>C (p.Leu1171Pro) c.3377T>C (p.Leu1126Pro) c.2366T>C (p.Leu789Pro) | |
12 | g.101753381A>T | CA386292129 | GNPTAB | c.3593T>A (p.Leu1198Gln) c.491T>A (n.491T>A) c.3512T>A (p.Leu1171Gln) c.3377T>A (p.Leu1126Gln) c.2366T>A (p.Leu789Gln) | |
12 | g.101753382G>A | CA481317514 | GNPTAB | c.3592C>T (p.Leu1198=) c.490C>T (n.490C>T) c.3511C>T (p.Leu1171=) c.3376C>T (p.Leu1126=) c.2365C>T (p.Leu789=) | |
12 | g.101753382G>C | CA386292132 | GNPTAB | c.3592C>G (p.Leu1198Val) c.490C>G (n.490C>G) c.3511C>G (p.Leu1171Val) c.3376C>G (p.Leu1126Val) c.2365C>G (p.Leu789Val) | |
12 | g.101753382G>T | CA386292133 | GNPTAB | c.3592C>A (p.Leu1198Met) c.490C>A (n.490C>A) c.3511C>A (p.Leu1171Met) c.3376C>A (p.Leu1126Met) c.2365C>A (p.Leu789Met) | |
12 | g.101753383C>A | CA386292134 | GNPTAB | c.3591G>T (p.Glu1197Asp) c.489G>T (n.489G>T) c.3510G>T (p.Glu1170Asp) c.3375G>T (p.Glu1125Asp) c.2364G>T (p.Glu788Asp) | |
12 | g.101753383C= | CA2058950536 | GNPTAB | c.3591G= (p.Glu1197=) c.489G= (n.489G=) c.3510G= (p.Glu1170=) c.3375G= (p.Glu1125=) c.2364G= (p.Glu788=) | |
12 | g.101753383C>G | CA386292135 | GNPTAB | c.3591G>C (p.Glu1197Asp) c.489G>C (n.489G>C) c.3510G>C (p.Glu1170Asp) c.3375G>C (p.Glu1125Asp) c.2364G>C (p.Glu788Asp) | gnomAD v4 |
12 | g.101753383C>T | CA6746114 | GNPTAB | c.3591G>A (p.Glu1197=) c.489G>A (n.489G>A) c.3510G>A (p.Glu1170=) c.3375G>A (p.Glu1125=) c.2364G>A (p.Glu788=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101753384T>A | CA386292136 | GNPTAB | c.3590A>T (p.Glu1197Val) c.488A>T (n.488A>T) c.3509A>T (p.Glu1170Val) c.3374A>T (p.Glu1125Val) c.2363A>T (p.Glu788Val) | |
12 | g.101753384T>C | CA386292137 | GNPTAB | c.3590A>G (p.Glu1197Gly) c.488A>G (n.488A>G) c.3509A>G (p.Glu1170Gly) c.3374A>G (p.Glu1125Gly) c.2363A>G (p.Glu788Gly) | COSMIC |
12 | g.101753384T>G | CA386292138 | GNPTAB | c.3590A>C (p.Glu1197Ala) c.488A>C (n.488A>C) c.3509A>C (p.Glu1170Ala) c.3374A>C (p.Glu1125Ala) c.2363A>C (p.Glu788Ala) | dbSNP |
12 | g.101753384T= | CA2058950537 | GNPTAB | c.3590A= (p.Glu1197=) c.488A= (n.488A=) c.3509A= (p.Glu1170=) c.3374A= (p.Glu1125=) c.2363A= (p.Glu788=) | |
12 | g.101753385C>A | CA386292139 | GNPTAB | c.3589G>T (p.Glu1197Ter) c.487G>T (n.487G>T) c.3508G>T (p.Glu1170Ter) c.3373G>T (p.Glu1125Ter) c.2362G>T (p.Glu788Ter) | gnomAD v4 |
12 | g.101753385C>G | CA386292140 | GNPTAB | c.3589G>C (p.Glu1197Gln) c.487G>C (n.487G>C) c.3508G>C (p.Glu1170Gln) c.3373G>C (p.Glu1125Gln) c.2362G>C (p.Glu788Gln) | |
12 | g.101753385C>T | CA386292141 | GNPTAB | c.3589G>A (p.Glu1197Lys) c.487G>A (n.487G>A) c.3508G>A (p.Glu1170Lys) c.3373G>A (p.Glu1125Lys) c.2362G>A (p.Glu788Lys) | COSMIC |
12 | g.101753386A>C | CA386292142 | GNPTAB | c.3588T>G (p.His1196Gln) c.486T>G (n.486T>G) c.3507T>G (p.His1169Gln) c.3372T>G (p.His1124Gln) c.2361T>G (p.His787Gln) | |
12 | g.101753386A>G | CA481317520 | GNPTAB | c.3588T>C (p.His1196=) c.486T>C (n.486T>C) c.3507T>C (p.His1169=) c.3372T>C (p.His1124=) c.2361T>C (p.His787=) | ClinVar dbSNP |
12 | g.101753386A>T | CA386292143 | GNPTAB | c.3588T>A (p.His1196Gln) c.486T>A (n.486T>A) c.3507T>A (p.His1169Gln) c.3372T>A (p.His1124Gln) c.2361T>A (p.His787Gln) | |
12 | g.101753387T>A | CA386292146 | GNPTAB | c.3587A>T (p.His1196Leu) c.485A>T (n.485A>T) c.3506A>T (p.His1169Leu) c.3371A>T (p.His1124Leu) c.2360A>T (p.His787Leu) | |
12 | g.101753387T>C | CA386292144 | GNPTAB | c.3587A>G (p.His1196Arg) c.485A>G (n.485A>G) c.3506A>G (p.His1169Arg) c.3371A>G (p.His1124Arg) c.2360A>G (p.His787Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.101753387T>G | CA386292145 | GNPTAB | c.3587A>C (p.His1196Pro) c.485A>C (n.485A>C) c.3506A>C (p.His1169Pro) c.3371A>C (p.His1124Pro) c.2360A>C (p.His787Pro) | |
12 | g.101753388del | CA2620426001 | GNPTAB | c.3586del (p.His1196MetfsTer13) c.484del (n.484del) c.3505del (p.His1169MetfsTer13) c.3370del (p.His1124MetfsTer13) c.2359del (p.His787MetfsTer13) | gnomAD v4 |
12 | g.101753388G>A | CA242447578 | GNPTAB | c.3586C>T (p.His1196Tyr) c.484C>T (n.484C>T) c.3505C>T (p.His1169Tyr) c.3370C>T (p.His1124Tyr) c.2359C>T (p.His787Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101753388G>C | CA386292147 | GNPTAB | c.3586C>G (p.His1196Asp) c.484C>G (n.484C>G) c.3505C>G (p.His1169Asp) c.3370C>G (p.His1124Asp) c.2359C>G (p.His787Asp) | |
12 | g.101753388G= | CA2058950538 | GNPTAB | c.3586C= (p.His1196=) c.484C= (n.484C=) c.3505C= (p.His1169=) c.3370C= (p.His1124=) c.2359C= (p.His787=) | |
12 | g.101753388G>T | CA386292148 | GNPTAB | c.3586C>A (p.His1196Asn) c.484C>A (n.484C>A) c.3505C>A (p.His1169Asn) c.3370C>A (p.His1124Asn) c.2359C>A (p.His787Asn) | |
12 | g.101753389C>A | CA386292149 | GNPTAB | c.3585G>T (p.Met1195Ile) c.483G>T (n.483G>T) c.3504G>T (p.Met1168Ile) c.3369G>T (p.Met1123Ile) c.2358G>T (p.Met786Ile) | gnomAD v4 |
12 | g.101753389C= | CA2058950539 | GNPTAB | c.3585G= (p.Met1195=) c.483G= (n.483G=) c.3504G= (p.Met1168=) c.3369G= (p.Met1123=) c.2358G= (p.Met786=) | |
12 | g.101753389C>G | CA386292150 | GNPTAB | c.3585G>C (p.Met1195Ile) c.483G>C (n.483G>C) c.3504G>C (p.Met1168Ile) c.3369G>C (p.Met1123Ile) c.2358G>C (p.Met786Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101753389C>T | CA6746115 | GNPTAB | c.3585G>A (p.Met1195Ile) c.483G>A (n.483G>A) c.3504G>A (p.Met1168Ile) c.3369G>A (p.Met1123Ile) c.2358G>A (p.Met786Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101753390A>C | CA386292153 | GNPTAB | c.3584T>G (p.Met1195Arg) c.482T>G (n.482T>G) c.3503T>G (p.Met1168Arg) c.3368T>G (p.Met1123Arg) c.2357T>G (p.Met786Arg) | |
12 | g.101753390A>G | CA386292155 | GNPTAB | c.3584T>C (p.Met1195Thr) c.482T>C (n.482T>C) c.3503T>C (p.Met1168Thr) c.3368T>C (p.Met1123Thr) c.2357T>C (p.Met786Thr) | |
12 | g.101753390A>T | CA386292156 | GNPTAB | c.3584T>A (p.Met1195Lys) c.482T>A (n.482T>A) c.3503T>A (p.Met1168Lys) c.3368T>A (p.Met1123Lys) c.2357T>A (p.Met786Lys) | |
12 | g.101753391T>A | CA386292160 | GNPTAB | c.3583A>T (p.Met1195Leu) c.481A>T (n.481A>T) c.3502A>T (p.Met1168Leu) c.3367A>T (p.Met1123Leu) c.2356A>T (p.Met786Leu) | |
12 | g.101753391T>C | CA386292161 | GNPTAB | c.3583A>G (p.Met1195Val) c.481A>G (n.481A>G) c.3502A>G (p.Met1168Val) c.3367A>G (p.Met1123Val) c.2356A>G (p.Met786Val) | |
12 | g.101753391T>G | CA386292163 | GNPTAB | c.3583A>C (p.Met1195Leu) c.481A>C (n.481A>C) c.3502A>C (p.Met1168Leu) c.3367A>C (p.Met1123Leu) c.2356A>C (p.Met786Leu) | |
12 | g.101753392A>C | CA386292167 | GNPTAB | c.3582T>G (p.His1194Gln) c.480T>G (n.480T>G) c.3501T>G (p.His1167Gln) c.3366T>G (p.His1122Gln) c.2355T>G (p.His785Gln) | |
12 | g.101753392A>G | CA481317526 | GNPTAB | c.3582T>C (p.His1194=) c.480T>C (n.480T>C) c.3501T>C (p.His1167=) c.3366T>C (p.His1122=) c.2355T>C (p.His785=) | |
12 | g.101753392A>T | CA386292165 | GNPTAB | c.3582T>A (p.His1194Gln) c.480T>A (n.480T>A) c.3501T>A (p.His1167Gln) c.3366T>A (p.His1122Gln) c.2355T>A (p.His785Gln) | |
12 | g.101753393T>A | CA386292169 | GNPTAB | c.3581A>T (p.His1194Leu) c.479A>T (n.479A>T) c.3500A>T (p.His1167Leu) c.3365A>T (p.His1122Leu) c.2354A>T (p.His785Leu) | |
12 | g.101753393T>C | CA386292173 | GNPTAB | c.3581A>G (p.His1194Arg) c.479A>G (n.479A>G) c.3500A>G (p.His1167Arg) c.3365A>G (p.His1122Arg) c.2354A>G (p.His785Arg) | gnomAD v4 |
12 | g.101753393T>G | CA386292171 | GNPTAB | c.3581A>C (p.His1194Pro) c.479A>C (n.479A>C) c.3500A>C (p.His1167Pro) c.3365A>C (p.His1122Pro) c.2354A>C (p.His785Pro) | |
12 | g.101753394G>A | CA386292174 | GNPTAB | c.3580C>T (p.His1194Tyr) c.478C>T (n.478C>T) c.3499C>T (p.His1167Tyr) c.3364C>T (p.His1122Tyr) c.2353C>T (p.His785Tyr) | COSMIC |
12 | g.101753394G>C | CA386292176 | GNPTAB | c.3580C>G (p.His1194Asp) c.478C>G (n.478C>G) c.3499C>G (p.His1167Asp) c.3364C>G (p.His1122Asp) c.2353C>G (p.His785Asp) | |
12 | g.101753394G>T | CA386292178 | GNPTAB | c.3580C>A (p.His1194Asn) c.478C>A (n.478C>A) c.3499C>A (p.His1167Asn) c.3364C>A (p.His1122Asn) c.2353C>A (p.His785Asn) | |
12 | g.101753395A>C | CA481317528 | GNPTAB | c.3579T>G (p.Leu1193=) c.477T>G (n.477T>G) c.3498T>G (p.Leu1166=) c.3363T>G (p.Leu1121=) c.2352T>G (p.Leu784=) | |
12 | g.101753395A>G | CA481317529 | GNPTAB | c.3579T>C (p.Leu1193=) c.477T>C (n.477T>C) c.3498T>C (p.Leu1166=) c.3363T>C (p.Leu1121=) c.2352T>C (p.Leu784=) | |
12 | g.101753395A>T | CA481317530 | GNPTAB | c.3579T>A (p.Leu1193=) c.477T>A (n.477T>A) c.3498T>A (p.Leu1166=) c.3363T>A (p.Leu1121=) c.2352T>A (p.Leu784=) | |
12 | g.101753396A>C | CA386292180 | GNPTAB | c.3578T>G (p.Leu1193Arg) c.476T>G (n.476T>G) c.3497T>G (p.Leu1166Arg) c.3362T>G (p.Leu1121Arg) c.2351T>G (p.Leu784Arg) | |
12 | g.101753396A>G | CA386292182 | GNPTAB | c.3578T>C (p.Leu1193Pro) c.476T>C (n.476T>C) c.3497T>C (p.Leu1166Pro) c.3362T>C (p.Leu1121Pro) c.2351T>C (p.Leu784Pro) | |
12 | g.101753396A>T | CA386292184 | GNPTAB | c.3578T>A (p.Leu1193His) c.476T>A (n.476T>A) c.3497T>A (p.Leu1166His) c.3362T>A (p.Leu1121His) c.2351T>A (p.Leu784His) | |
12 | g.101753397G>A | CA386292188 | GNPTAB | c.3577C>T (p.Leu1193Phe) c.475C>T (n.475C>T) c.3496C>T (p.Leu1166Phe) c.3361C>T (p.Leu1121Phe) c.2350C>T (p.Leu784Phe) | gnomAD v4 |
12 | g.101753397G>C | CA386292186 | GNPTAB | c.3577C>G (p.Leu1193Val) c.475C>G (n.475C>G) c.3496C>G (p.Leu1166Val) c.3361C>G (p.Leu1121Val) c.2350C>G (p.Leu784Val) | |
12 | g.101753397G>T | CA386292187 | GNPTAB | c.3577C>A (p.Leu1193Ile) c.475C>A (n.475C>A) c.3496C>A (p.Leu1166Ile) c.3361C>A (p.Leu1121Ile) c.2350C>A (p.Leu784Ile) | |
12 | g.101753398G>A | CA481317531 | GNPTAB | c.3576C>T (p.Phe1192=) c.474C>T (n.474C>T) c.3495C>T (p.Phe1165=) c.3360C>T (p.Phe1120=) c.2349C>T (p.Phe783=) | gnomAD v4 |
12 | g.101753398G>C | CA386292190 | GNPTAB | c.3576C>G (p.Phe1192Leu) c.474C>G (n.474C>G) c.3495C>G (p.Phe1165Leu) c.3360C>G (p.Phe1120Leu) c.2349C>G (p.Phe783Leu) | |
12 | g.101753398G>T | CA386292191 | GNPTAB | c.3576C>A (p.Phe1192Leu) c.474C>A (n.474C>A) c.3495C>A (p.Phe1165Leu) c.3360C>A (p.Phe1120Leu) c.2349C>A (p.Phe783Leu) | COSMIC |
12 | g.101753399A= | CA2058950540 | GNPTAB | c.3575T= (p.Phe1192=) c.473T= (n.473T=) c.3494T= (p.Phe1165=) c.3359T= (p.Phe1120=) c.2348T= (p.Phe783=) | |
12 | g.101753399A>C | CA386292193 | GNPTAB | c.3575T>G (p.Phe1192Cys) c.473T>G (n.473T>G) c.3494T>G (p.Phe1165Cys) c.3359T>G (p.Phe1120Cys) c.2348T>G (p.Phe783Cys) | |
12 | g.101753399A>G | CA16609422 | GNPTAB | c.3575T>C (p.Phe1192Ser) c.473T>C (n.473T>C) c.3494T>C (p.Phe1165Ser) c.3359T>C (p.Phe1120Ser) c.2348T>C (p.Phe783Ser) | ClinVar dbSNP |
12 | g.101753399A>T | CA386292195 | GNPTAB | c.3575T>A (p.Phe1192Tyr) c.473T>A (n.473T>A) c.3494T>A (p.Phe1165Tyr) c.3359T>A (p.Phe1120Tyr) c.2348T>A (p.Phe783Tyr) | gnomAD v4 |
12 | g.101753400A>C | CA386292200 | GNPTAB | c.3574T>G (p.Phe1192Val) c.472T>G (n.472T>G) c.3493T>G (p.Phe1165Val) c.3358T>G (p.Phe1120Val) c.2347T>G (p.Phe783Val) | |
12 | g.101753400A>G | CA386292196 | GNPTAB | c.3574T>C (p.Phe1192Leu) c.472T>C (n.472T>C) c.3493T>C (p.Phe1165Leu) c.3358T>C (p.Phe1120Leu) c.2347T>C (p.Phe783Leu) | gnomAD v4 |
12 | g.101753400A>T | CA386292198 | GNPTAB | c.3574T>A (p.Phe1192Ile) c.472T>A (n.472T>A) c.3493T>A (p.Phe1165Ile) c.3358T>A (p.Phe1120Ile) c.2347T>A (p.Phe783Ile) | |
12 | g.101753401A= | CA2058950541 | GNPTAB | c.3573T= (p.Arg1191=) c.471T= (n.471T=) c.3492T= (p.Arg1164=) c.3357T= (p.Arg1119=) c.2346T= (p.Arg782=) | |
12 | g.101753401A>C | CA481317535 | GNPTAB | c.3573T>G (p.Arg1191=) c.471T>G (n.471T>G) c.3492T>G (p.Arg1164=) c.3357T>G (p.Arg1119=) c.2346T>G (p.Arg782=) | |
12 | g.101753401A>G | CA481317536 | GNPTAB | c.3573T>C (p.Arg1191=) c.471T>C (n.471T>C) c.3492T>C (p.Arg1164=) c.3357T>C (p.Arg1119=) c.2346T>C (p.Arg782=) | |
12 | g.101753401A>T | CA6746116 | GNPTAB | c.3573T>A (p.Arg1191=) c.471T>A (n.471T>A) c.3492T>A (p.Arg1164=) c.3357T>A (p.Arg1119=) c.2346T>A (p.Arg782=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101753402C>A | CA386292204 | GNPTAB | c.3572G>T (p.Arg1191Leu) c.470G>T (n.470G>T) c.3491G>T (p.Arg1164Leu) c.3356G>T (p.Arg1119Leu) c.2345G>T (p.Arg782Leu) | |
12 | g.101753402C= | CA2058950542 | GNPTAB | c.3572G= (p.Arg1191=) c.470G= (n.470G=) c.3491G= (p.Arg1164=) c.3356G= (p.Arg1119=) c.2345G= (p.Arg782=) | |
12 | g.101753402C>G | CA386292206 | GNPTAB | c.3572G>C (p.Arg1191Pro) c.470G>C (n.470G>C) c.3491G>C (p.Arg1164Pro) c.3356G>C (p.Arg1119Pro) c.2345G>C (p.Arg782Pro) | |
12 | g.101753402C>T | CA6746117 | GNPTAB | c.3572G>A (p.Arg1191His) c.470G>A (n.470G>A) c.3491G>A (p.Arg1164His) c.3356G>A (p.Arg1119His) c.2345G>A (p.Arg782His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101753403G>A | CA386292209 | GNPTAB | c.3571C>T (p.Arg1191Cys) c.469C>T (n.469C>T) c.3490C>T (p.Arg1164Cys) c.3355C>T (p.Arg1119Cys) c.2344C>T (p.Arg782Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101753403G>C | CA386292211 | GNPTAB | c.3571C>G (p.Arg1191Gly) c.469C>G (n.469C>G) c.3490C>G (p.Arg1164Gly) c.3355C>G (p.Arg1119Gly) c.2344C>G (p.Arg782Gly) | |
12 | g.101753403G= | CA2058950543 | GNPTAB | c.3571C= (p.Arg1191=) c.469C= (n.469C=) c.3490C= (p.Arg1164=) c.3355C= (p.Arg1119=) c.2344C= (p.Arg782=) | |
12 | g.101753403G>T | CA386292212 | GNPTAB | c.3571C>A (p.Arg1191Ser) c.469C>A (n.469C>A) c.3490C>A (p.Arg1164Ser) c.3355C>A (p.Arg1119Ser) c.2344C>A (p.Arg782Ser) | |
12 | g.101753404G>A | CA481317541 | GNPTAB | c.3570C>T (p.Asn1190=) c.468C>T (n.468C>T) c.3489C>T (p.Asn1163=) c.3354C>T (p.Asn1118=) c.2343C>T (p.Asn781=) | |
12 | g.101753404G>C | CA386292215 | GNPTAB | c.3570C>G (p.Asn1190Lys) c.468C>G (n.468C>G) c.3489C>G (p.Asn1163Lys) c.3354C>G (p.Asn1118Lys) c.2343C>G (p.Asn781Lys) | |
12 | g.101753404G= | CA2058950544 | GNPTAB | c.3570C= (p.Asn1190=) c.468C= (n.468C=) c.3489C= (p.Asn1163=) c.3354C= (p.Asn1118=) c.2343C= (p.Asn781=) | |
12 | g.101753404G>T | CA386292217 | GNPTAB | c.3570C>A (p.Asn1190Lys) c.468C>A (n.468C>A) c.3489C>A (p.Asn1163Lys) c.3354C>A (p.Asn1118Lys) c.2343C>A (p.Asn781Lys) | ClinVar gnomAD v4 |
12 | g.101753405T>A | CA386292219 | GNPTAB | c.3569A>T (p.Asn1190Ile) c.467A>T (n.467A>T) c.3488A>T (p.Asn1163Ile) c.3353A>T (p.Asn1118Ile) c.2342A>T (p.Asn781Ile) | |
12 | g.101753405T>C | CA386292221 | GNPTAB | c.3569A>G (p.Asn1190Ser) c.467A>G (n.467A>G) c.3488A>G (p.Asn1163Ser) c.3353A>G (p.Asn1118Ser) c.2342A>G (p.Asn781Ser) | |
12 | g.101753405T>G | CA386292223 | GNPTAB | c.3569A>C (p.Asn1190Thr) c.467A>C (n.467A>C) c.3488A>C (p.Asn1163Thr) c.3353A>C (p.Asn1118Thr) c.2342A>C (p.Asn781Thr) | |
12 | g.101753407dup | CA343080 | GNPTAB | c.3569dup (p.Asn1190LysfsTer8) c.467dup (n.467dup) c.3488dup (p.Asn1163LysfsTer8) c.3353dup (p.Asn1118LysfsTer8) c.2342dup (p.Asn781LysfsTer8) | ClinVar dbSNP |
12 | g.101753407del | CA2740092543 | GNPTAB | c.3569del (p.Asn1190ThrfsTer19) c.467del (n.467del) c.3488del (p.Asn1163ThrfsTer19) c.3353del (p.Asn1118ThrfsTer19) c.2342del (p.Asn781ThrfsTer19) | ClinVar |
12 | g.101753406T>A | CA386292225 | GNPTAB | c.3568A>T (p.Asn1190Tyr) c.466A>T (n.466A>T) c.3487A>T (p.Asn1163Tyr) c.3352A>T (p.Asn1118Tyr) c.2341A>T (p.Asn781Tyr) | |
12 | g.101753406T>C | CA386292229 | GNPTAB | c.3568A>G (p.Asn1190Asp) c.466A>G (n.466A>G) c.3487A>G (p.Asn1163Asp) c.3352A>G (p.Asn1118Asp) c.2341A>G (p.Asn781Asp) | dbSNP |
12 | g.101753406T>G | CA386292227 | GNPTAB | c.3568A>C (p.Asn1190His) c.466A>C (n.466A>C) c.3487A>C (p.Asn1163His) c.3352A>C (p.Asn1118His) c.2341A>C (p.Asn781His) | |
12 | g.101753406T= | CA2058950545 | GNPTAB | c.3568A= (p.Asn1190=) c.466A= (n.466A=) c.3487A= (p.Asn1163=) c.3352A= (p.Asn1118=) c.2341A= (p.Asn781=) | |
12 | g.101753407T>A | CA481317545 | GNPTAB | c.3567A>T (p.Arg1189=) c.465A>T (n.465A>T) c.3486A>T (p.Arg1162=) c.3351A>T (p.Arg1117=) c.2340A>T (p.Arg780=) | |
12 | g.101753407T>C | CA481317546 | GNPTAB | c.3567A>G (p.Arg1189=) c.465A>G (n.465A>G) c.3486A>G (p.Arg1162=) c.3351A>G (p.Arg1117=) c.2340A>G (p.Arg780=) | |
12 | g.101753407T>G | CA481317547 | GNPTAB | c.3567A>C (p.Arg1189=) c.465A>C (n.465A>C) c.3486A>C (p.Arg1162=) c.3351A>C (p.Arg1117=) c.2340A>C (p.Arg780=) | |
12 | g.101753408C>A | CA386292231 | GNPTAB | c.3566G>T (p.Arg1189Leu) c.464G>T (n.464G>T) c.3485G>T (p.Arg1162Leu) c.3350G>T (p.Arg1117Leu) c.2339G>T (p.Arg780Leu) | |
12 | g.101753408C= | CA2058950546 | GNPTAB | c.3566G= (p.Arg1189=) c.464G= (n.464G=) c.3485G= (p.Arg1162=) c.3350G= (p.Arg1117=) c.2339G= (p.Arg780=) | |
12 | g.101753408C>G | CA386292233 | GNPTAB | c.3566G>C (p.Arg1189Pro) c.464G>C (n.464G>C) c.3485G>C (p.Arg1162Pro) c.3350G>C (p.Arg1117Pro) c.2339G>C (p.Arg780Pro) | |
12 | g.101753408C>T | CA6746118 | GNPTAB | c.3566G>A (p.Arg1189Gln) c.464G>A (n.464G>A) c.3485G>A (p.Arg1162Gln) c.3350G>A (p.Arg1117Gln) c.2339G>A (p.Arg780Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.101753408_101753409insT | CA2695217189 | GNPTAB | c.3565_3566insA (p.Arg1189GlnfsTer9) c.463_464insA (n.463_464insA) c.3484_3485insA (p.Arg1162GlnfsTer9) c.3349_3350insA (p.Arg1117GlnfsTer9) c.2338_2339insA (p.Arg780GlnfsTer9) | |
12 | g.101753409G>A | CA340009 | GNPTAB | c.3565C>T (p.Arg1189Ter) c.463C>T (n.463C>T) c.3484C>T (p.Arg1162Ter) c.3349C>T (p.Arg1117Ter) c.2338C>T (p.Arg780Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101753409G>C | CA386292237 | GNPTAB | c.3565C>G (p.Arg1189Gly) c.463C>G (n.463C>G) c.3484C>G (p.Arg1162Gly) c.3349C>G (p.Arg1117Gly) c.2338C>G (p.Arg780Gly) | dbSNP gnomAD v4 |
12 | g.101753409G= | CA2058950547 | GNPTAB | c.3565C= (p.Arg1189=) c.463C= (n.463C=) c.3484C= (p.Arg1162=) c.3349C= (p.Arg1117=) c.2338C= (p.Arg780=) | |
12 | g.101753409G>T | CA481317550 | GNPTAB | c.3565C>A (p.Arg1189=) c.463C>A (n.463C>A) c.3484C>A (p.Arg1162=) c.3349C>A (p.Arg1117=) c.2338C>A (p.Arg780=) | |
12 | g.101753410A>C | CA386292240 | GNPTAB | c.3564T>G (p.Tyr1188Ter) c.462T>G (n.462T>G) c.3483T>G (p.Tyr1161Ter) c.3348T>G (p.Tyr1116Ter) c.2337T>G (p.Tyr779Ter) | |
12 | g.101753410A>G | CA481317552 | GNPTAB | c.3564T>C (p.Tyr1188=) c.462T>C (n.462T>C) c.3483T>C (p.Tyr1161=) c.3348T>C (p.Tyr1116=) c.2337T>C (p.Tyr779=) | |
12 | g.101753410A>T | CA386292241 | GNPTAB | c.3564T>A (p.Tyr1188Ter) c.462T>A (n.462T>A) c.3483T>A (p.Tyr1161Ter) c.3348T>A (p.Tyr1116Ter) c.2337T>A (p.Tyr779Ter) | |
12 | g.101753411T>A | CA386292244 | GNPTAB | c.3563A>T (p.Tyr1188Phe) c.461A>T (n.461A>T) c.3482A>T (p.Tyr1161Phe) c.3347A>T (p.Tyr1116Phe) c.2336A>T (p.Tyr779Phe) | |
12 | g.101753411T>C | CA386292245 | GNPTAB | c.3563A>G (p.Tyr1188Cys) c.461A>G (n.461A>G) c.3482A>G (p.Tyr1161Cys) c.3347A>G (p.Tyr1116Cys) c.2336A>G (p.Tyr779Cys) | |
12 | g.101753411T>G | CA386292247 | GNPTAB | c.3563A>C (p.Tyr1188Ser) c.461A>C (n.461A>C) c.3482A>C (p.Tyr1161Ser) c.3347A>C (p.Tyr1116Ser) c.2336A>C (p.Tyr779Ser) | |
12 | g.101753412A= | CA2058950549 | GNPTAB | c.3562T= (p.Tyr1188=) c.460T= (n.460T=) c.3481T= (p.Tyr1161=) c.3346T= (p.Tyr1116=) c.2335T= (p.Tyr779=) | |
12 | g.101753412A>C | CA242447649 | GNPTAB | c.3562T>G (p.Tyr1188Asp) c.460T>G (n.460T>G) c.3481T>G (p.Tyr1161Asp) c.3346T>G (p.Tyr1116Asp) c.2335T>G (p.Tyr779Asp) | dbSNP |
12 | g.101753412A>G | CA386292250 | GNPTAB | c.3562T>C (p.Tyr1188His) c.460T>C (n.460T>C) c.3481T>C (p.Tyr1161His) c.3346T>C (p.Tyr1116His) c.2335T>C (p.Tyr779His) | |
12 | g.101753412A>T | CA386292252 | GNPTAB | c.3562T>A (p.Tyr1188Asn) c.460T>A (n.460T>A) c.3481T>A (p.Tyr1161Asn) c.3346T>A (p.Tyr1116Asn) c.2335T>A (p.Tyr779Asn) | |
12 | g.101753412_101753414delinsACT | CA2058950548 | GNPTAB | c.3560_3562delinsAGT (p.Glu1187=) c.458_460delinsAGT (n.458_460delinsAGT) c.3479_3481delinsAGT (p.Glu1160=) c.3344_3346delinsAGT (p.Glu1115=) c.2333_2335delinsAGT (p.Glu778=) | |
12 | g.101753413C>A | CA386292254 | GNPTAB | c.3561G>T (p.Glu1187Asp) c.459G>T (n.459G>T) c.3480G>T (p.Glu1160Asp) c.3345G>T (p.Glu1115Asp) c.2334G>T (p.Glu778Asp) | |
12 | g.101753413C>G | CA386292257 | GNPTAB | c.3561G>C (p.Glu1187Asp) c.459G>C (n.459G>C) c.3480G>C (p.Glu1160Asp) c.3345G>C (p.Glu1115Asp) c.2334G>C (p.Glu778Asp) | |
12 | g.101753413C>T | CA481317554 | GNPTAB | c.3561G>A (p.Glu1187=) c.459G>A (n.459G>A) c.3480G>A (p.Glu1160=) c.3345G>A (p.Glu1115=) c.2334G>A (p.Glu778=) | |
12 | g.101753417_101753418del | CA275054 | GNPTAB | c.3560_3561del (p.Glu1187ValfsTer10) c.458_459del (n.458_459del) c.3479_3480del (p.Glu1160ValfsTer10) c.3344_3345del (p.Glu1115ValfsTer10) c.2333_2334del (p.Glu778ValfsTer10) | ClinVar dbSNP ExAC gnomAD v4 |
12 | g.101753414T>A | CA386292260 | GNPTAB | c.3560A>T (p.Glu1187Val) c.458A>T (n.458A>T) c.3479A>T (p.Glu1160Val) c.3344A>T (p.Glu1115Val) c.2333A>T (p.Glu778Val) | dbSNP |
12 | g.101753414T>C | CA386292262 | GNPTAB | c.3560A>G (p.Glu1187Gly) c.458A>G (n.458A>G) c.3479A>G (p.Glu1160Gly) c.3344A>G (p.Glu1115Gly) c.2333A>G (p.Glu778Gly) | gnomAD v4 |
12 | g.101753414T>G | CA386292264 | GNPTAB | c.3560A>C (p.Glu1187Ala) c.458A>C (n.458A>C) c.3479A>C (p.Glu1160Ala) c.3344A>C (p.Glu1115Ala) c.2333A>C (p.Glu778Ala) | |
12 | g.101753414T= | CA2058950550 | GNPTAB | c.3560A= (p.Glu1187=) c.458A= (n.458A=) c.3479A= (p.Glu1160=) c.3344A= (p.Glu1115=) c.2333A= (p.Glu778=) | |
12 | g.101753415C>A | CA386292266 | GNPTAB | c.3559G>T (p.Glu1187Ter) c.457G>T (n.457G>T) c.3478G>T (p.Glu1160Ter) c.3343G>T (p.Glu1115Ter) c.2332G>T (p.Glu778Ter) | |
12 | g.101753415C>G | CA386292267 | GNPTAB | c.3559G>C (p.Glu1187Gln) c.457G>C (n.457G>C) c.3478G>C (p.Glu1160Gln) c.3343G>C (p.Glu1115Gln) c.2332G>C (p.Glu778Gln) | |
12 | g.101753415C>T | CA386292269 | GNPTAB | c.3559G>A (p.Glu1187Lys) c.457G>A (n.457G>A) c.3478G>A (p.Glu1160Lys) c.3343G>A (p.Glu1115Lys) c.2332G>A (p.Glu778Lys) | |
12 | g.101753416T>A | CA386292271 | GNPTAB | c.3558A>T (p.Arg1186Ser) c.456A>T (n.456A>T) c.3477A>T (p.Arg1159Ser) c.3342A>T (p.Arg1114Ser) c.2331A>T (p.Arg777Ser) | |
12 | g.101753416T>C | CA481317562 | GNPTAB | c.3558A>G (p.Arg1186=) c.456A>G (n.456A>G) c.3477A>G (p.Arg1159=) c.3342A>G (p.Arg1114=) c.2331A>G (p.Arg777=) | ClinVar dbSNP |
12 | g.101753416T>G | CA386292273 | GNPTAB | c.3558A>C (p.Arg1186Ser) c.456A>C (n.456A>C) c.3477A>C (p.Arg1159Ser) c.3342A>C (p.Arg1114Ser) c.2331A>C (p.Arg777Ser) | |
12 | g.101753417C>A | CA386292276 | GNPTAB | c.3557G>T (p.Arg1186Ile) c.455G>T (n.455G>T) c.3476G>T (p.Arg1159Ile) c.3341G>T (p.Arg1114Ile) c.2330G>T (p.Arg777Ile) | |
12 | g.101753417C>G | CA386292278 | GNPTAB | c.3557G>C (p.Arg1186Thr) c.455G>C (n.455G>C) c.3476G>C (p.Arg1159Thr) c.3341G>C (p.Arg1114Thr) c.2330G>C (p.Arg777Thr) | |
12 | g.101753417C>T | CA386292279 | GNPTAB | c.3557G>A (p.Arg1186Lys) c.455G>A (n.455G>A) c.3476G>A (p.Arg1159Lys) c.3341G>A (p.Arg1114Lys) c.2330G>A (p.Arg777Lys) | |
12 | g.101753418T>A | CA386292280 | GNPTAB | c.3556A>T (p.Arg1186Ter) c.454A>T (n.454A>T) c.3475A>T (p.Arg1159Ter) c.3340A>T (p.Arg1114Ter) c.2329A>T (p.Arg777Ter) | |
12 | g.101753418T>C | CA386292281 | GNPTAB | c.3556A>G (p.Arg1186Gly) c.454A>G (n.454A>G) c.3475A>G (p.Arg1159Gly) c.3340A>G (p.Arg1114Gly) c.2329A>G (p.Arg777Gly) | |
12 | g.101753418T>G | CA481317566 | GNPTAB | c.3556A>C (p.Arg1186=) c.454A>C (n.454A>C) c.3475A>C (p.Arg1159=) c.3340A>C (p.Arg1114=) c.2329A>C (p.Arg777=) | |
12 | g.101753419T>A | CA481317567 | GNPTAB | c.3555A>T (p.Pro1185=) c.453A>T (n.453A>T) c.3474A>T (p.Pro1158=) c.3339A>T (p.Pro1113=) c.2328A>T (p.Pro776=) | |
12 | g.101753419T>C | CA6746119 | GNPTAB | c.3555A>G (p.Pro1185=) c.453A>G (n.453A>G) c.3474A>G (p.Pro1158=) c.3339A>G (p.Pro1113=) c.2328A>G (p.Pro776=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101753419T>G | CA481317569 | GNPTAB | c.3555A>C (p.Pro1185=) c.453A>C (n.453A>C) c.3474A>C (p.Pro1158=) c.3339A>C (p.Pro1113=) c.2328A>C (p.Pro776=) | |
12 | g.101753419T= | CA2058950551 | GNPTAB | c.3555A= (p.Pro1185=) c.453A= (n.453A=) c.3474A= (p.Pro1158=) c.3339A= (p.Pro1113=) c.2328A= (p.Pro776=) | |
12 | g.101753420G>A | CA386292291 | GNPTAB | c.3554C>T (p.Pro1185Leu) c.452C>T (n.452C>T) c.3473C>T (p.Pro1158Leu) c.3338C>T (p.Pro1113Leu) c.2327C>T (p.Pro776Leu) | dbSNP gnomAD v4 |
12 | g.101753420G>C | CA386292284 | GNPTAB | c.3554C>G (p.Pro1185Arg) c.452C>G (n.452C>G) c.3473C>G (p.Pro1158Arg) c.3338C>G (p.Pro1113Arg) c.2327C>G (p.Pro776Arg) | |
12 | g.101753420G= | CA2058950552 | GNPTAB | c.3554C= (p.Pro1185=) c.452C= (n.452C=) c.3473C= (p.Pro1158=) c.3338C= (p.Pro1113=) c.2327C= (p.Pro776=) | |
12 | g.101753420G>T | CA386292286 | GNPTAB | c.3554C>A (p.Pro1185Gln) c.452C>A (n.452C>A) c.3473C>A (p.Pro1158Gln) c.3338C>A (p.Pro1113Gln) c.2327C>A (p.Pro776Gln) | |
12 | g.101753421G>A | CA386292294 | GNPTAB | c.3553C>T (p.Pro1185Ser) c.451C>T (n.451C>T) c.3472C>T (p.Pro1158Ser) c.3337C>T (p.Pro1113Ser) c.2326C>T (p.Pro776Ser) | |
12 | g.101753421G>C | CA386292296 | GNPTAB | c.3553C>G (p.Pro1185Ala) c.451C>G (n.451C>G) c.3472C>G (p.Pro1158Ala) c.3337C>G (p.Pro1113Ala) c.2326C>G (p.Pro776Ala) | |
12 | g.101753421G>T | CA386292298 | GNPTAB | c.3553C>A (p.Pro1185Thr) c.451C>A (n.451C>A) c.3472C>A (p.Pro1158Thr) c.3337C>A (p.Pro1113Thr) c.2326C>A (p.Pro776Thr) | gnomAD v4 |
12 | g.101753422del | CA2620426039 | GNPTAB | c.3552del (p.Pro1185GlnfsTer24) c.450del (n.450del) c.3471del (p.Pro1158GlnfsTer24) c.3336del (p.Pro1113GlnfsTer24) c.2325del (p.Pro776GlnfsTer24) | ClinVar gnomAD v4 |
12 | g.101753422C>A | CA481317571 | GNPTAB | c.3552G>T (p.Leu1184=) c.450G>T (n.450G>T) c.3471G>T (p.Leu1157=) c.3336G>T (p.Leu1112=) c.2325G>T (p.Leu775=) | |
12 | g.101753422C= | CA2058950553 | GNPTAB | c.3552G= (p.Leu1184=) c.450G= (n.450G=) c.3471G= (p.Leu1157=) c.3336G= (p.Leu1112=) c.2325G= (p.Leu775=) | |
12 | g.101753422C>G | CA481317572 | GNPTAB | c.3552G>C (p.Leu1184=) c.450G>C (n.450G>C) c.3471G>C (p.Leu1157=) c.3336G>C (p.Leu1112=) c.2325G>C (p.Leu775=) | dbSNP |
12 | g.101753422C>T | CA6746120 | GNPTAB | c.3552G>A (p.Leu1184=) c.450G>A (n.450G>A) c.3471G>A (p.Leu1157=) c.3336G>A (p.Leu1112=) c.2325G>A (p.Leu775=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101753423A>C | CA386292301 | GNPTAB | c.3551T>G (p.Leu1184Arg) c.449T>G (n.449T>G) c.3470T>G (p.Leu1157Arg) c.3335T>G (p.Leu1112Arg) c.2324T>G (p.Leu775Arg) | |
12 | g.101753423A>G | CA386292304 | GNPTAB | c.3551T>C (p.Leu1184Pro) c.449T>C (n.449T>C) c.3470T>C (p.Leu1157Pro) c.3335T>C (p.Leu1112Pro) c.2324T>C (p.Leu775Pro) | |
12 | g.101753423A>T | CA386292305 | GNPTAB | c.3551T>A (p.Leu1184Gln) c.449T>A (n.449T>A) c.3470T>A (p.Leu1157Gln) c.3335T>A (p.Leu1112Gln) c.2324T>A (p.Leu775Gln) | |
12 | g.101753424G>A | CA481317575 | GNPTAB | c.3550C>T (p.Leu1184=) c.448C>T (n.448C>T) c.3469C>T (p.Leu1157=) c.3334C>T (p.Leu1112=) c.2323C>T (p.Leu775=) | |
12 | g.101753424G>C | CA386292307 | GNPTAB | c.3550C>G (p.Leu1184Val) c.448C>G (n.448C>G) c.3469C>G (p.Leu1157Val) c.3334C>G (p.Leu1112Val) c.2323C>G (p.Leu775Val) | |
12 | g.101753424G>T | CA386292309 | GNPTAB | c.3550C>A (p.Leu1184Met) c.448C>A (n.448C>A) c.3469C>A (p.Leu1157Met) c.3334C>A (p.Leu1112Met) c.2323C>A (p.Leu775Met) | |
12 | g.101753425T>A | CA386292311 | GNPTAB | c.3549A>T (p.Glu1183Asp) c.447A>T (n.447A>T) c.3468A>T (p.Glu1156Asp) c.3333A>T (p.Glu1111Asp) c.2322A>T (p.Glu774Asp) | |
12 | g.101753425T>C | CA481317579 | GNPTAB | c.3549A>G (p.Glu1183=) c.447A>G (n.447A>G) c.3468A>G (p.Glu1156=) c.3333A>G (p.Glu1111=) c.2322A>G (p.Glu774=) | dbSNP |
12 | g.101753425T>G | CA386292313 | GNPTAB | c.3549A>C (p.Glu1183Asp) c.447A>C (n.447A>C) c.3468A>C (p.Glu1156Asp) c.3333A>C (p.Glu1111Asp) c.2322A>C (p.Glu774Asp) | |
12 | g.101753426T>A | CA386292315 | GNPTAB | c.3548A>T (p.Glu1183Val) c.446A>T (n.446A>T) c.3467A>T (p.Glu1156Val) c.3332A>T (p.Glu1111Val) c.2321A>T (p.Glu774Val) | |
12 | g.101753426T>C | CA386292320 | GNPTAB | c.3548A>G (p.Glu1183Gly) c.446A>G (n.446A>G) c.3467A>G (p.Glu1156Gly) c.3332A>G (p.Glu1111Gly) c.2321A>G (p.Glu774Gly) | |
12 | g.101753426T>G | CA386292318 | GNPTAB | c.3548A>C (p.Glu1183Ala) c.446A>C (n.446A>C) c.3467A>C (p.Glu1156Ala) c.3332A>C (p.Glu1111Ala) c.2321A>C (p.Glu774Ala) | |
12 | g.101753427C>A | CA386292322 | GNPTAB | c.3547G>T (p.Glu1183Ter) c.445G>T (n.445G>T) c.3466G>T (p.Glu1156Ter) c.3331G>T (p.Glu1111Ter) c.2320G>T (p.Glu774Ter) | |
12 | g.101753427C>G | CA386292324 | GNPTAB | c.3547G>C (p.Glu1183Gln) c.445G>C (n.445G>C) c.3466G>C (p.Glu1156Gln) c.3331G>C (p.Glu1111Gln) c.2320G>C (p.Glu774Gln) | |
12 | g.101753427C>T | CA386292326 | GNPTAB | c.3547G>A (p.Glu1183Lys) c.445G>A (n.445G>A) c.3466G>A (p.Glu1156Lys) c.3331G>A (p.Glu1111Lys) c.2320G>A (p.Glu774Lys) | |
12 | g.101753428A>C | CA386292329 | GNPTAB | c.3546T>G (p.Phe1182Leu) c.444T>G (n.444T>G) c.3465T>G (p.Phe1155Leu) c.3330T>G (p.Phe1110Leu) c.2319T>G (p.Phe773Leu) | |
12 | g.101753428A>G | CA481317582 | GNPTAB | c.3546T>C (p.Phe1182=) c.444T>C (n.444T>C) c.3465T>C (p.Phe1155=) c.3330T>C (p.Phe1110=) c.2319T>C (p.Phe773=) | |
12 | g.101753428A>T | CA386292330 | GNPTAB | c.3546T>A (p.Phe1182Leu) c.444T>A (n.444T>A) c.3465T>A (p.Phe1155Leu) c.3330T>A (p.Phe1110Leu) c.2319T>A (p.Phe773Leu) | |
12 | g.101753429A>C | CA386292331 | GNPTAB | c.3545T>G (p.Phe1182Cys) c.443T>G (n.443T>G) c.3464T>G (p.Phe1155Cys) c.3329T>G (p.Phe1110Cys) c.2318T>G (p.Phe773Cys) | |
12 | g.101753429A>G | CA386292333 | GNPTAB | c.3545T>C (p.Phe1182Ser) c.443T>C (n.443T>C) c.3464T>C (p.Phe1155Ser) c.3329T>C (p.Phe1110Ser) c.2318T>C (p.Phe773Ser) | |
12 | g.101753429A>T | CA386292335 | GNPTAB | c.3545T>A (p.Phe1182Tyr) c.443T>A (n.443T>A) c.3464T>A (p.Phe1155Tyr) c.3329T>A (p.Phe1110Tyr) c.2318T>A (p.Phe773Tyr) | |
12 | g.101753430A>C | CA386292337 | GNPTAB | c.3544T>G (p.Phe1182Val) c.442T>G (n.442T>G) c.3463T>G (p.Phe1155Val) c.3328T>G (p.Phe1110Val) c.2317T>G (p.Phe773Val) | |
12 | g.101753430A>G | CA386292339 | GNPTAB | c.3544T>C (p.Phe1182Leu) c.442T>C (n.442T>C) c.3463T>C (p.Phe1155Leu) c.3328T>C (p.Phe1110Leu) c.2317T>C (p.Phe773Leu) | |
12 | g.101753430A>T | CA386292341 | GNPTAB | c.3544T>A (p.Phe1182Ile) c.442T>A (n.442T>A) c.3463T>A (p.Phe1155Ile) c.3328T>A (p.Phe1110Ile) c.2317T>A (p.Phe773Ile) | |
12 | g.101753430_101753431delinsAT | CA2058950554 | GNPTAB | c.3543_3544delinsAT (p.Gln1181=) c.441_442delinsAT (n.441_442delinsAT) c.3462_3463delinsAT (p.Gln1154=) c.3327_3328delinsAT (p.Gln1109=) c.2316_2317delinsAT (p.Gln772=) | |
12 | g.101753431T>A | CA386292345 | GNPTAB | c.3543A>T (p.Gln1181His) c.441A>T (n.441A>T) c.3462A>T (p.Gln1154His) c.3327A>T (p.Gln1109His) c.2316A>T (p.Gln772His) | |
12 | g.101753431T>C | CA481317589 | GNPTAB | c.3543A>G (p.Gln1181=) c.441A>G (n.441A>G) c.3462A>G (p.Gln1154=) c.3327A>G (p.Gln1109=) c.2316A>G (p.Gln772=) | dbSNP |
12 | g.101753431T>G | CA386292343 | GNPTAB | c.3543A>C (p.Gln1181His) c.441A>C (n.441A>C) c.3462A>C (p.Gln1154His) c.3327A>C (p.Gln1109His) c.2316A>C (p.Gln772His) | |
12 | g.101753431T= | CA2058950556 | GNPTAB | c.3543A= (p.Gln1181=) c.441A= (n.441A=) c.3462A= (p.Gln1154=) c.3327A= (p.Gln1109=) c.2316A= (p.Gln772=) | |
12 | g.101753432del | CA2058950555 | GNPTAB | c.3543del (p.Gln1181HisfsTer28) c.441del (n.441del) c.3462del (p.Gln1154HisfsTer28) c.3327del (p.Gln1109HisfsTer28) c.2316del (p.Gln772HisfsTer28) | dbSNP |
12 | g.101753432T>A | CA386292348 | GNPTAB | c.3542A>T (p.Gln1181Leu) c.440A>T (n.440A>T) c.3461A>T (p.Gln1154Leu) c.3326A>T (p.Gln1109Leu) c.2315A>T (p.Gln772Leu) | |
12 | g.101753432T>C | CA386292349 | GNPTAB | c.3542A>G (p.Gln1181Arg) c.440A>G (n.440A>G) c.3461A>G (p.Gln1154Arg) c.3326A>G (p.Gln1109Arg) c.2315A>G (p.Gln772Arg) | |
12 | g.101753432T>G | CA386292351 | GNPTAB | c.3542A>C (p.Gln1181Pro) c.440A>C (n.440A>C) c.3461A>C (p.Gln1154Pro) c.3326A>C (p.Gln1109Pro) c.2315A>C (p.Gln772Pro) | |
12 | g.101753433G>A | CA386292354 | GNPTAB | c.3541C>T (p.Gln1181Ter) c.439C>T (n.439C>T) c.3460C>T (p.Gln1154Ter) c.3325C>T (p.Gln1109Ter) c.2314C>T (p.Gln772Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.101753433G>C | CA386292355 | GNPTAB | c.3541C>G (p.Gln1181Glu) c.439C>G (n.439C>G) c.3460C>G (p.Gln1154Glu) c.3325C>G (p.Gln1109Glu) c.2314C>G (p.Gln772Glu) | |
12 | g.101753433G= | CA2058950557 | GNPTAB | c.3541C= (p.Gln1181=) c.439C= (n.439C=) c.3460C= (p.Gln1154=) c.3325C= (p.Gln1109=) c.2314C= (p.Gln772=) | |
12 | g.101753433G>T | CA386292357 | GNPTAB | c.3541C>A (p.Gln1181Lys) c.439C>A (n.439C>A) c.3460C>A (p.Gln1154Lys) c.3325C>A (p.Gln1109Lys) c.2314C>A (p.Gln772Lys) | |
12 | g.101753434G>A | CA481317592 | GNPTAB | c.3540C>T (p.Ser1180=) c.438C>T (n.438C>T) c.3459C>T (p.Ser1153=) c.3324C>T (p.Ser1108=) c.2313C>T (p.Ser771=) | ClinVar dbSNP gnomAD v4 |
12 | g.101753434G>C | CA6746121 | GNPTAB | c.3540C>G (p.Ser1180=) c.438C>G (n.438C>G) c.3459C>G (p.Ser1153=) c.3324C>G (p.Ser1108=) c.2313C>G (p.Ser771=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101753434G= | CA2058950558 | GNPTAB | c.3540C= (p.Ser1180=) c.438C= (n.438C=) c.3459C= (p.Ser1153=) c.3324C= (p.Ser1108=) c.2313C= (p.Ser771=) | |
12 | g.101753434G>T | CA481317594 | GNPTAB | c.3540C>A (p.Ser1180=) c.438C>A (n.438C>A) c.3459C>A (p.Ser1153=) c.3324C>A (p.Ser1108=) c.2313C>A (p.Ser771=) | |
12 | g.101753435G>A | CA16609423 | GNPTAB | c.3539C>T (p.Ser1180Phe) c.437C>T (n.437C>T) c.3458C>T (p.Ser1153Phe) c.3323C>T (p.Ser1108Phe) c.2312C>T (p.Ser771Phe) | ClinVar dbSNP |
12 | g.101753435G>C | CA386292361 | GNPTAB | c.3539C>G (p.Ser1180Cys) c.437C>G (n.437C>G) c.3458C>G (p.Ser1153Cys) c.3323C>G (p.Ser1108Cys) c.2312C>G (p.Ser771Cys) | |
12 | g.101753435G= | CA2058950559 | GNPTAB | c.3539C= (p.Ser1180=) c.437C= (n.437C=) c.3458C= (p.Ser1153=) c.3323C= (p.Ser1108=) c.2312C= (p.Ser771=) | |
12 | g.101753435G>T | CA386292362 | GNPTAB | c.3539C>A (p.Ser1180Tyr) c.437C>A (n.437C>A) c.3458C>A (p.Ser1153Tyr) c.3323C>A (p.Ser1108Tyr) c.2312C>A (p.Ser771Tyr) | |
12 | g.101753436A>C | CA386292364 | GNPTAB | c.3538T>G (p.Ser1180Ala) c.436T>G (n.436T>G) c.3457T>G (p.Ser1153Ala) c.3322T>G (p.Ser1108Ala) c.2311T>G (p.Ser771Ala) | |
12 | g.101753436A>G | CA386292366 | GNPTAB | c.3538T>C (p.Ser1180Pro) c.436T>C (n.436T>C) c.3457T>C (p.Ser1153Pro) c.3322T>C (p.Ser1108Pro) c.2311T>C (p.Ser771Pro) | |
12 | g.101753436A>T | CA386292368 | GNPTAB | c.3538T>A (p.Ser1180Thr) c.436T>A (n.436T>A) c.3457T>A (p.Ser1153Thr) c.3322T>A (p.Ser1108Thr) c.2311T>A (p.Ser771Thr) | |
12 | g.101753437A>C | CA481317598 | GNPTAB | c.3537T>G (p.Pro1179=) c.435T>G (n.435T>G) c.3456T>G (p.Pro1152=) c.3321T>G (p.Pro1107=) c.2310T>G (p.Pro770=) | |
12 | g.101753437A>G | CA481317600 | GNPTAB | c.3537T>C (p.Pro1179=) c.435T>C (n.435T>C) c.3456T>C (p.Pro1152=) c.3321T>C (p.Pro1107=) c.2310T>C (p.Pro770=) | |
12 | g.101753437A>T | CA481317601 | GNPTAB | c.3537T>A (p.Pro1179=) c.435T>A (n.435T>A) c.3456T>A (p.Pro1152=) c.3321T>A (p.Pro1107=) c.2310T>A (p.Pro770=) | |
12 | g.101753438G>A | CA386292373 | GNPTAB | c.3536C>T (p.Pro1179Leu) c.434C>T (n.434C>T) c.3455C>T (p.Pro1152Leu) c.3320C>T (p.Pro1107Leu) c.2309C>T (p.Pro770Leu) | |
12 | g.101753438G>C | CA386292375 | GNPTAB | c.3536C>G (p.Pro1179Arg) c.434C>G (n.434C>G) c.3455C>G (p.Pro1152Arg) c.3320C>G (p.Pro1107Arg) c.2309C>G (p.Pro770Arg) | |
12 | g.101753438G>T | CA386292371 | GNPTAB | c.3536C>A (p.Pro1179His) c.434C>A (n.434C>A) c.3455C>A (p.Pro1152His) c.3320C>A (p.Pro1107His) c.2309C>A (p.Pro770His) | |
12 | g.101753439G>A | CA386292377 | GNPTAB | c.3535C>T (p.Pro1179Ser) c.433C>T (n.433C>T) c.3454C>T (p.Pro1152Ser) c.3319C>T (p.Pro1107Ser) c.2308C>T (p.Pro770Ser) | |
12 | g.101753439G>C | CA386292379 | GNPTAB | c.3535C>G (p.Pro1179Ala) c.433C>G (n.433C>G) c.3454C>G (p.Pro1152Ala) c.3319C>G (p.Pro1107Ala) c.2308C>G (p.Pro770Ala) | |
12 | g.101753439G>T | CA386292381 | GNPTAB | c.3535C>A (p.Pro1179Thr) c.433C>A (n.433C>A) c.3454C>A (p.Pro1152Thr) c.3319C>A (p.Pro1107Thr) c.2308C>A (p.Pro770Thr) | gnomAD v4 |
12 | g.101753440T>A | CA481317607 | GNPTAB | c.3534A>T (p.Ile1178=) c.432A>T (n.432A>T) c.3453A>T (p.Ile1151=) c.3318A>T (p.Ile1106=) c.2307A>T (p.Ile769=) | |
12 | g.101753440T>C | CA6746122 | GNPTAB | c.3534A>G (p.Ile1178Met) c.432A>G (n.432A>G) c.3453A>G (p.Ile1151Met) c.3318A>G (p.Ile1106Met) c.2307A>G (p.Ile769Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101753440T>G | CA481317608 | GNPTAB | c.3534A>C (p.Ile1178=) c.432A>C (n.432A>C) c.3453A>C (p.Ile1151=) c.3318A>C (p.Ile1106=) c.2307A>C (p.Ile769=) | |
12 | g.101753440T= | CA2058950560 | GNPTAB | c.3534A= (p.Ile1178=) c.432A= (n.432A=) c.3453A= (p.Ile1151=) c.3318A= (p.Ile1106=) c.2307A= (p.Ile769=) |