Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.131277843T>ACA2694707896IGSF1c.2320+13A>T (n.2320+13A>T)
c.2335+13A>T (n.2335+13A>T)
c.10-2966A>T
n.722+13A>T
c.2293+13A>T (n.2293+13A>T)
c.562+13A>T (n.562+13A>T)
 gnomAD v4
Xg.131277843T>CCA2505399006IGSF1c.2320+13A>G (n.2320+13A>G)
c.2335+13A>G (n.2335+13A>G)
c.10-2966A>G
n.722+13A>G
c.2293+13A>G (n.2293+13A>G)
c.562+13A>G (n.562+13A>G)
 gnomAD v4
Xg.131277843T>GCA2694707895IGSF1c.2320+13A>C (n.2320+13A>C)
c.2335+13A>C (n.2335+13A>C)
c.10-2966A>C
n.722+13A>C
c.2293+13A>C (n.2293+13A>C)
c.562+13A>C (n.562+13A>C)
 gnomAD v4
Xg.131277846delCA2579703183IGSF1c.2320+13del (n.2320+13del)
c.2335+13del (n.2335+13del)
c.10-2966del
n.722+13del
c.2293+13del (n.2293+13del)
c.562+13del (n.562+13del)
 gnomAD v4
Xg.131277846T>ACA2694707897IGSF1c.2320+10A>T (n.2320+10A>T)
c.2335+10A>T (n.2335+10A>T)
c.10-2969A>T
n.722+10A>T
c.2293+10A>T (n.2293+10A>T)
c.562+10A>T (n.562+10A>T)
 gnomAD v4
Xg.131277847C>TCA2823590242IGSF1c.2320+9G>A (n.2320+9G>A)
c.2335+9G>A (n.2335+9G>A)
c.10-2970G>A
n.722+9G>A
c.2293+9G>A (n.2293+9G>A)
c.562+9G>A (n.562+9G>A)
Xg.131277848A>CCA2694707898IGSF1c.2320+8T>G (n.2320+8T>G)
c.2335+8T>G (n.2335+8T>G)
c.10-2971T>G
n.722+8T>G
c.2293+8T>G (n.2293+8T>G)
c.562+8T>G (n.562+8T>G)
 gnomAD v4
Xg.131277848A>TCA2579703184IGSF1c.2320+8T>A (n.2320+8T>A)
c.2335+8T>A (n.2335+8T>A)
c.10-2971T>A
n.722+8T>A
c.2293+8T>A (n.2293+8T>A)
c.562+8T>A (n.562+8T>A)
Xg.131277850C>ACA2458672149IGSF1c.2320+6G>T (n.2320+6G>T)
c.2335+6G>T (n.2335+6G>T)
c.10-2973G>T
n.722+6G>T
c.2293+6G>T (n.2293+6G>T)
c.562+6G>T (n.562+6G>T)
 dbSNP
Xg.131277850C=CA2458672148IGSF1c.2320+6G= (n.2320+6G=)
c.2335+6G= (n.2335+6G=)
c.10-2973G=
n.722+6G=
c.2293+6G= (n.2293+6G=)
c.562+6G= (n.562+6G=)
Xg.131277850C>TCA10517826IGSF1c.2320+6G>A (n.2320+6G>A)
c.2335+6G>A (n.2335+6G>A)
c.10-2973G>A
n.722+6G>A
c.2293+6G>A (n.2293+6G>A)
c.562+6G>A (n.562+6G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.131277851T>CCA335110322IGSF1c.2320+5A>G (n.2320+5A>G)
c.2335+5A>G (n.2335+5A>G)
c.10-2974A>G
n.722+5A>G
c.2293+5A>G (n.2293+5A>G)
c.562+5A>G (n.562+5A>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.131277851T=CA2458672150IGSF1c.2320+5A= (n.2320+5A=)
c.2335+5A= (n.2335+5A=)
c.10-2974A=
n.722+5A=
c.2293+5A= (n.2293+5A=)
c.562+5A= (n.562+5A=)
Xg.131277852C>GCA2579703185IGSF1c.2320+4G>C (n.2320+4G>C)
c.2335+4G>C (n.2335+4G>C)
c.10-2975G>C
n.722+4G>C
c.2293+4G>C (n.2293+4G>C)
c.562+4G>C (n.562+4G>C)
 gnomAD v4
Xg.131277854A>CCA414562952IGSF1c.2320+2T>G (n.2320+2T>G)
c.2335+2T>G (n.2335+2T>G)
c.10-2977T>G
n.722+2T>G
c.2293+2T>G (n.2293+2T>G)
c.562+2T>G (n.562+2T>G)
Xg.131277854A>GCA414562954IGSF1c.2320+2T>C (n.2320+2T>C)
c.2335+2T>C (n.2335+2T>C)
c.10-2977T>C
n.722+2T>C
c.2293+2T>C (n.2293+2T>C)
c.562+2T>C (n.562+2T>C)
Xg.131277854A>TCA414562962IGSF1c.2320+2T>A (n.2320+2T>A)
c.2335+2T>A (n.2335+2T>A)
c.10-2977T>A
n.722+2T>A
c.2293+2T>A (n.2293+2T>A)
c.562+2T>A (n.562+2T>A)
Xg.131277855C>ACA414562964IGSF1c.2320+1G>T (n.2320+1G>T)
c.2335+1G>T (n.2335+1G>T)
c.10-2978G>T
n.722+1G>T
c.2293+1G>T (n.2293+1G>T)
c.562+1G>T (n.562+1G>T)
Xg.131277855C>GCA414562967IGSF1c.2320+1G>C (n.2320+1G>C)
c.2335+1G>C (n.2335+1G>C)
c.10-2978G>C
n.722+1G>C
c.2293+1G>C (n.2293+1G>C)
c.562+1G>C (n.562+1G>C)
Xg.131277855C>TCA414562969IGSF1c.2320+1G>A (n.2320+1G>A)
c.2335+1G>A (n.2335+1G>A)
c.10-2978G>A
n.722+1G>A
c.2293+1G>A (n.2293+1G>A)
c.562+1G>A (n.562+1G>A)
Xg.131277856C>ACA414562976IGSF1c.2320G>T (p.Glu774Ter)
c.2335G>T (p.Glu779Ter)
c.10-2979G>T
n.722G>T
c.2293G>T (p.Glu765Ter)
c.562G>T (p.Glu188Ter)
Xg.131277856C>GCA414562974IGSF1c.2320G>C (p.Glu774Gln)
c.2335G>C (p.Glu779Gln)
c.10-2979G>C
n.722G>C
c.2293G>C (p.Glu765Gln)
c.562G>C (p.Glu188Gln)
Xg.131277856C>TCA414562971IGSF1c.2320G>A (p.Glu774Lys)
c.2335G>A (p.Glu779Lys)
c.10-2979G>A
n.722G>A
c.2293G>A (p.Glu765Lys)
c.562G>A (p.Glu188Lys)
Xg.131277857T>ACA414562979IGSF1c.2319A>T (p.Lys773Asn)
c.2334A>T (p.Lys778Asn)
c.10-2980A>T
n.721A>T
c.2292A>T (p.Lys764Asn)
c.561A>T (p.Lys187Asn)
 gnomAD v4
Xg.131277857T>CCA518836001IGSF1c.2319A>G (p.Lys773=)
c.2334A>G (p.Lys778=)
c.10-2980A>G
n.721A>G
c.2292A>G (p.Lys764=)
c.561A>G (p.Lys187=)
Xg.131277857T>GCA414562982IGSF1c.2319A>C (p.Lys773Asn)
c.2334A>C (p.Lys778Asn)
c.10-2980A>C
n.721A>C
c.2292A>C (p.Lys764Asn)
c.561A>C (p.Lys187Asn)
Xg.131277860delCA518836002IGSF1c.2319del (p.Glu774LysfsTer22)
c.2334del (p.Glu779LysfsTer22)
c.10-2980del
n.721del
c.2292del (p.Glu765LysfsTer22)
c.561del (p.Glu188LysfsTer22)
Xg.131277858T>ACA414562984IGSF1c.2318A>T (p.Lys773Ile)
c.2333A>T (p.Lys778Ile)
c.10-2981A>T
n.720A>T
c.2291A>T (p.Lys764Ile)
c.560A>T (p.Lys187Ile)
Xg.131277858T>CCA414562987IGSF1c.2318A>G (p.Lys773Arg)
c.2333A>G (p.Lys778Arg)
c.10-2981A>G
n.720A>G
c.2291A>G (p.Lys764Arg)
c.560A>G (p.Lys187Arg)
Xg.131277858T>GCA414562988IGSF1c.2318A>C (p.Lys773Thr)
c.2333A>C (p.Lys778Thr)
c.10-2981A>C
n.720A>C
c.2291A>C (p.Lys764Thr)
c.560A>C (p.Lys187Thr)
Xg.131277859T>ACA414562991IGSF1c.2317A>T (p.Lys773Ter)
c.2332A>T (p.Lys778Ter)
c.10-2982A>T
n.719A>T
c.2290A>T (p.Lys764Ter)
c.559A>T (p.Lys187Ter)
Xg.131277859T>CCA414562997IGSF1c.2317A>G (p.Lys773Glu)
c.2332A>G (p.Lys778Glu)
c.10-2982A>G
n.719A>G
c.2290A>G (p.Lys764Glu)
c.559A>G (p.Lys187Glu)
Xg.131277859T>GCA414563000IGSF1c.2317A>C (p.Lys773Gln)
c.2332A>C (p.Lys778Gln)
c.10-2982A>C
n.719A>C
c.2290A>C (p.Lys764Gln)
c.559A>C (p.Lys187Gln)
 COSMIC
Xg.131277860T>ACA518836006IGSF1c.2316A>T (p.Ile772=)
c.2331A>T (p.Ile777=)
c.10-2983A>T
n.718A>T
c.2289A>T (p.Ile763=)
c.558A>T (p.Ile186=)
Xg.131277860T>CCA414563002IGSF1c.2316A>G (p.Ile772Met)
c.2331A>G (p.Ile777Met)
c.10-2983A>G
n.718A>G
c.2289A>G (p.Ile763Met)
c.558A>G (p.Ile186Met)
Xg.131277860T>GCA518836007IGSF1c.2316A>C (p.Ile772=)
c.2331A>C (p.Ile777=)
c.10-2983A>C
n.718A>C
c.2289A>C (p.Ile763=)
c.558A>C (p.Ile186=)
Xg.131277861A>CCA414563006IGSF1c.2315T>G (p.Ile772Arg)
c.2330T>G (p.Ile777Arg)
c.10-2984T>G
n.717T>G
c.2288T>G (p.Ile763Arg)
c.557T>G (p.Ile186Arg)
Xg.131277861A>GCA414563008IGSF1c.2315T>C (p.Ile772Thr)
c.2330T>C (p.Ile777Thr)
c.10-2984T>C
n.717T>C
c.2288T>C (p.Ile763Thr)
c.557T>C (p.Ile186Thr)
Xg.131277861A>TCA414563011IGSF1c.2315T>A (p.Ile772Lys)
c.2330T>A (p.Ile777Lys)
c.10-2984T>A
n.717T>A
c.2288T>A (p.Ile763Lys)
c.557T>A (p.Ile186Lys)
Xg.131277862T>ACA414563018IGSF1c.2314A>T (p.Ile772Leu)
c.2329A>T (p.Ile777Leu)
c.10-2985A>T
n.716A>T
c.2287A>T (p.Ile763Leu)
c.556A>T (p.Ile186Leu)
Xg.131277862T>CCA414563021IGSF1c.2314A>G (p.Ile772Val)
c.2329A>G (p.Ile777Val)
c.10-2985A>G
n.716A>G
c.2287A>G (p.Ile763Val)
c.556A>G (p.Ile186Val)
Xg.131277862T>GCA414563014IGSF1c.2314A>C (p.Ile772Leu)
c.2329A>C (p.Ile777Leu)
c.10-2985A>C
n.716A>C
c.2287A>C (p.Ile763Leu)
c.556A>C (p.Ile186Leu)
Xg.131277863G>ACA518836009IGSF1c.2313C>T (p.Val771=)
c.2328C>T (p.Val776=)
c.10-2986C>T
n.715C>T
c.2286C>T (p.Val762=)
c.555C>T (p.Val185=)
Xg.131277863G>CCA518836011IGSF1c.2313C>G (p.Val771=)
c.2328C>G (p.Val776=)
c.10-2986C>G
n.715C>G
c.2286C>G (p.Val762=)
c.555C>G (p.Val185=)
Xg.131277863G>TCA518836010IGSF1c.2313C>A (p.Val771=)
c.2328C>A (p.Val776=)
c.10-2986C>A
n.715C>A
c.2286C>A (p.Val762=)
c.555C>A (p.Val185=)
 gnomAD v4
Xg.131277864A>CCA414563024IGSF1c.2312T>G (p.Val771Gly)
c.2327T>G (p.Val776Gly)
c.10-2987T>G
n.714T>G
c.2285T>G (p.Val762Gly)
c.554T>G (p.Val185Gly)
Xg.131277864A>GCA414563030IGSF1c.2312T>C (p.Val771Ala)
c.2327T>C (p.Val776Ala)
c.10-2987T>C
n.714T>C
c.2285T>C (p.Val762Ala)
c.554T>C (p.Val185Ala)
Xg.131277864A>TCA414563032IGSF1c.2312T>A (p.Val771Asp)
c.2327T>A (p.Val776Asp)
c.10-2987T>A
n.714T>A
c.2285T>A (p.Val762Asp)
c.554T>A (p.Val185Asp)
Xg.131277865C>ACA414563035IGSF1c.2311G>T (p.Val771Phe)
c.2326G>T (p.Val776Phe)
c.10-2988G>T
n.713G>T
c.2284G>T (p.Val762Phe)
c.553G>T (p.Val185Phe)
 gnomAD v4
Xg.131277865C>GCA414563037IGSF1c.2311G>C (p.Val771Leu)
c.2326G>C (p.Val776Leu)
c.10-2988G>C
n.713G>C
c.2284G>C (p.Val762Leu)
c.553G>C (p.Val185Leu)

Number of alleles fetched