Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.125481474A>GCA2672012516FAT4c.12605-47A>G (n.12605-47A>G)
c.7376-47A>G (n.7376-47A>G)
c.7322-47A>G (n.7322-47A>G)
c.12599-47A>G (n.12599-47A>G)
 gnomAD v4
4g.125481475T>CCA2672012517FAT4c.12605-46T>C (n.12605-46T>C)
c.7376-46T>C (n.7376-46T>C)
c.7322-46T>C (n.7322-46T>C)
c.12599-46T>C (n.12599-46T>C)
 gnomAD v4
4g.125481476G>ACA104870307FAT4c.12605-45G>A (n.12605-45G>A)
c.7376-45G>A (n.7376-45G>A)
c.7322-45G>A (n.7322-45G>A)
c.12599-45G>A (n.12599-45G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125481476G=CA1491668391FAT4c.12605-45G= (n.12605-45G=)
c.7376-45G= (n.7376-45G=)
c.7322-45G= (n.7322-45G=)
c.12599-45G= (n.12599-45G=)
4g.125481476G>TCA2672012518FAT4c.12605-45G>T (n.12605-45G>T)
c.7376-45G>T (n.7376-45G>T)
c.7322-45G>T (n.7322-45G>T)
c.12599-45G>T (n.12599-45G>T)
 gnomAD v4
4g.125481477C>ACA2672012519FAT4c.12605-44C>A (n.12605-44C>A)
c.7376-44C>A (n.7376-44C>A)
c.7322-44C>A (n.7322-44C>A)
c.12599-44C>A (n.12599-44C>A)
 gnomAD v4
4g.125481478C>ACA2578191266FAT4c.12605-43C>A (n.12605-43C>A)
c.7376-43C>A (n.7376-43C>A)
c.7322-43C>A (n.7322-43C>A)
c.12599-43C>A (n.12599-43C>A)
 gnomAD v4
4g.125481480A=CA1491668395FAT4c.12605-41A= (n.12605-41A=)
c.7376-41A= (n.7376-41A=)
c.7322-41A= (n.7322-41A=)
c.12599-41A= (n.12599-41A=)
4g.125481480A>GCA3074157FAT4c.12605-41A>G (n.12605-41A>G)
c.7376-41A>G (n.7376-41A>G)
c.7322-41A>G (n.7322-41A>G)
c.12599-41A>G (n.12599-41A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125481481A>GCA2672012520FAT4c.12605-40A>G (n.12605-40A>G)
c.7376-40A>G (n.7376-40A>G)
c.7322-40A>G (n.7322-40A>G)
c.12599-40A>G (n.12599-40A>G)
 gnomAD v4
4g.125481482T>ACA2672012521FAT4c.12605-39T>A (n.12605-39T>A)
c.7376-39T>A (n.7376-39T>A)
c.7322-39T>A (n.7322-39T>A)
c.12599-39T>A (n.12599-39T>A)
 gnomAD v4
4g.125481483G>TCA2672012522FAT4c.12605-38G>T (n.12605-38G>T)
c.7376-38G>T (n.7376-38G>T)
c.7322-38G>T (n.7322-38G>T)
c.12599-38G>T (n.12599-38G>T)
 gnomAD v4
4g.125481484A=CA1491668399FAT4c.12605-37A= (n.12605-37A=)
c.7376-37A= (n.7376-37A=)
c.7322-37A= (n.7322-37A=)
c.12599-37A= (n.12599-37A=)
4g.125481484A>TCA554719881FAT4c.12605-37A>T (n.12605-37A>T)
c.7376-37A>T (n.7376-37A>T)
c.7322-37A>T (n.7322-37A>T)
c.12599-37A>T (n.12599-37A>T)
 dbSNP gnomAD v2
4g.125481485A>GCA2672012523FAT4c.12605-36A>G (n.12605-36A>G)
c.7376-36A>G (n.7376-36A>G)
c.7322-36A>G (n.7322-36A>G)
c.12599-36A>G (n.12599-36A>G)
 gnomAD v4
4g.125481486T>CCA2672012524FAT4c.12605-35T>C (n.12605-35T>C)
c.7376-35T>C (n.7376-35T>C)
c.7322-35T>C (n.7322-35T>C)
c.12599-35T>C (n.12599-35T>C)
 gnomAD v4
4g.125481488C>ACA2672012525FAT4c.12605-33C>A (n.12605-33C>A)
c.7376-33C>A (n.7376-33C>A)
c.7322-33C>A (n.7322-33C>A)
c.12599-33C>A (n.12599-33C>A)
 gnomAD v4
4g.125481489A=CA1491668402FAT4c.12605-32A= (n.12605-32A=)
c.7376-32A= (n.7376-32A=)
c.7322-32A= (n.7322-32A=)
c.12599-32A= (n.12599-32A=)
4g.125481489A>GCA3074158FAT4c.12605-32A>G (n.12605-32A>G)
c.7376-32A>G (n.7376-32A>G)
c.7322-32A>G (n.7322-32A>G)
c.12599-32A>G (n.12599-32A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125481490T>CCA1067680046FAT4c.12605-31T>C (n.12605-31T>C)
c.7376-31T>C (n.7376-31T>C)
c.7322-31T>C (n.7322-31T>C)
c.12599-31T>C (n.12599-31T>C)
 dbSNP gnomAD v3 gnomAD v4
4g.125481490T>GCA104870326FAT4c.12605-31T>G (n.12605-31T>G)
c.7376-31T>G (n.7376-31T>G)
c.7322-31T>G (n.7322-31T>G)
c.12599-31T>G (n.12599-31T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125481490T=CA1491668405FAT4c.12605-31T= (n.12605-31T=)
c.7376-31T= (n.7376-31T=)
c.7322-31T= (n.7322-31T=)
c.12599-31T= (n.12599-31T=)
4g.125481491T>CCA554719882FAT4c.12605-30T>C (n.12605-30T>C)
c.7376-30T>C (n.7376-30T>C)
c.7322-30T>C (n.7322-30T>C)
c.12599-30T>C (n.12599-30T>C)
 dbSNP gnomAD v2 gnomAD v4
4g.125481491T=CA1491668410FAT4c.12605-30T= (n.12605-30T=)
c.7376-30T= (n.7376-30T=)
c.7322-30T= (n.7322-30T=)
c.12599-30T= (n.12599-30T=)
4g.125481492C>ACA2672012526FAT4c.12605-29C>A (n.12605-29C>A)
c.7376-29C>A (n.7376-29C>A)
c.7322-29C>A (n.7322-29C>A)
c.12599-29C>A (n.12599-29C>A)
 dbSNP gnomAD v4
4g.125481494T>CCA786670907FAT4c.12605-27T>C (n.12605-27T>C)
c.7376-27T>C (n.7376-27T>C)
c.7322-27T>C (n.7322-27T>C)
c.12599-27T>C (n.12599-27T>C)
 dbSNP gnomAD v3 gnomAD v4
4g.125481494T=CA1491668413FAT4c.12605-27T= (n.12605-27T=)
c.7376-27T= (n.7376-27T=)
c.7322-27T= (n.7322-27T=)
c.12599-27T= (n.12599-27T=)
4g.125481497dupCA2672012527FAT4c.12605-24dup (n.12605-24dup)
c.7376-24dup (n.7376-24dup)
c.7322-24dup (n.7322-24dup)
c.12599-24dup (n.12599-24dup)
 gnomAD v4
4g.125481497delCA2672012528FAT4c.12605-24del (n.12605-24del)
c.7376-24del (n.7376-24del)
c.7322-24del (n.7322-24del)
c.12599-24del (n.12599-24del)
 gnomAD v4
4g.125481495T>ACA2672012529FAT4c.12605-26T>A (n.12605-26T>A)
c.7376-26T>A (n.7376-26T>A)
c.7322-26T>A (n.7322-26T>A)
c.12599-26T>A (n.12599-26T>A)
 gnomAD v4
4g.125481497T>GCA2672012530FAT4c.12605-24T>G (n.12605-24T>G)
c.7376-24T>G (n.7376-24T>G)
c.7322-24T>G (n.7322-24T>G)
c.12599-24T>G (n.12599-24T>G)
 gnomAD v4
4g.125481497T=CA1491668415FAT4c.12605-24T= (n.12605-24T=)
c.7376-24T= (n.7376-24T=)
c.7322-24T= (n.7322-24T=)
c.12599-24T= (n.12599-24T=)
4g.125481498C=CA1491668418FAT4c.12605-23C= (n.12605-23C=)
c.7376-23C= (n.7376-23C=)
c.7322-23C= (n.7322-23C=)
c.12599-23C= (n.12599-23C=)
4g.125481498C>GCA2672012531FAT4c.12605-23C>G (n.12605-23C>G)
c.7376-23C>G (n.7376-23C>G)
c.7322-23C>G (n.7322-23C>G)
c.12599-23C>G (n.12599-23C>G)
 gnomAD v4
4g.125481498C>TCA3074159FAT4c.12605-23C>T (n.12605-23C>T)
c.7376-23C>T (n.7376-23C>T)
c.7322-23C>T (n.7322-23C>T)
c.12599-23C>T (n.12599-23C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125481500dupCA786670914FAT4c.12605-21dup (n.12605-21dup)
c.7376-21dup (n.7376-21dup)
c.7322-21dup (n.7322-21dup)
c.12599-21dup (n.12599-21dup)
 dbSNP gnomAD v3 gnomAD v4
4g.125481499C>ACA2672012532FAT4c.12605-22C>A (n.12605-22C>A)
c.7376-22C>A (n.7376-22C>A)
c.7322-22C>A (n.7322-22C>A)
c.12599-22C>A (n.12599-22C>A)
 gnomAD v4
4g.125481499C>GCA2672012533FAT4c.12605-22C>G (n.12605-22C>G)
c.7376-22C>G (n.7376-22C>G)
c.7322-22C>G (n.7322-22C>G)
c.12599-22C>G (n.12599-22C>G)
 gnomAD v4
4g.125481499C>TCA2672012534FAT4c.12605-22C>T (n.12605-22C>T)
c.7376-22C>T (n.7376-22C>T)
c.7322-22C>T (n.7322-22C>T)
c.12599-22C>T (n.12599-22C>T)
 gnomAD v4
4g.125481500C=CA1491668420FAT4c.12605-21C= (n.12605-21C=)
c.7376-21C= (n.7376-21C=)
c.7322-21C= (n.7322-21C=)
c.12599-21C= (n.12599-21C=)
4g.125481500C>TCA554719883FAT4c.12605-21C>T (n.12605-21C>T)
c.7376-21C>T (n.7376-21C>T)
c.7322-21C>T (n.7322-21C>T)
c.12599-21C>T (n.12599-21C>T)
 dbSNP gnomAD v2 gnomAD v4
4g.125481501T>CCA2672012536FAT4c.12605-20T>C (n.12605-20T>C)
c.7376-20T>C (n.7376-20T>C)
c.7322-20T>C (n.7322-20T>C)
c.12599-20T>C (n.12599-20T>C)
 gnomAD v4
4g.125481501T>GCA1491668424FAT4c.12605-20T>G (n.12605-20T>G)
c.7376-20T>G (n.7376-20T>G)
c.7322-20T>G (n.7322-20T>G)
c.12599-20T>G (n.12599-20T>G)
 dbSNP gnomAD v4
4g.125481501T=CA1491668422FAT4c.12605-20T= (n.12605-20T=)
c.7376-20T= (n.7376-20T=)
c.7322-20T= (n.7322-20T=)
c.12599-20T= (n.12599-20T=)
4g.125481506dupCA2578191267FAT4c.12605-15dup (n.12605-15dup)
c.7376-15dup (n.7376-15dup)
c.7322-15dup (n.7322-15dup)
c.12599-15dup (n.12599-15dup)
 gnomAD v4
4g.125481506delCA2672012535FAT4c.12605-15del (n.12605-15del)
c.7376-15del (n.7376-15del)
c.7322-15del (n.7322-15del)
c.12599-15del (n.12599-15del)
 gnomAD v4
4g.125481503T>ACA554719884FAT4c.12605-18T>A (n.12605-18T>A)
c.7376-18T>A (n.7376-18T>A)
c.7322-18T>A (n.7322-18T>A)
c.12599-18T>A (n.12599-18T>A)
 dbSNP gnomAD v2 gnomAD v4
4g.125481503T>GCA1491668428FAT4c.12605-18T>G (n.12605-18T>G)
c.7376-18T>G (n.7376-18T>G)
c.7322-18T>G (n.7322-18T>G)
c.12599-18T>G (n.12599-18T>G)
 dbSNP
4g.125481503T=CA1491668426FAT4c.12605-18T= (n.12605-18T=)
c.7376-18T= (n.7376-18T=)
c.7322-18T= (n.7322-18T=)
c.12599-18T= (n.12599-18T=)
4g.125481504T>ACA2672012537FAT4c.12605-17T>A (n.12605-17T>A)
c.7376-17T>A (n.7376-17T>A)
c.7322-17T>A (n.7322-17T>A)
c.12599-17T>A (n.12599-17T>A)
 gnomAD v4
4g.125481504T>CCA3074160FAT4c.12605-17T>C (n.12605-17T>C)
c.7376-17T>C (n.7376-17T>C)
c.7322-17T>C (n.7322-17T>C)
c.12599-17T>C (n.12599-17T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125481504T=CA1491668430FAT4c.12605-17T= (n.12605-17T=)
c.7376-17T= (n.7376-17T=)
c.7322-17T= (n.7322-17T=)
c.12599-17T= (n.12599-17T=)
4g.125481505T>ACA554719885FAT4c.12605-16T>A (n.12605-16T>A)
c.7376-16T>A (n.7376-16T>A)
c.7322-16T>A (n.7322-16T>A)
c.12599-16T>A (n.12599-16T>A)
 dbSNP gnomAD v2 gnomAD v4
4g.125481505T=CA1491668431FAT4c.12605-16T= (n.12605-16T=)
c.7376-16T= (n.7376-16T=)
c.7322-16T= (n.7322-16T=)
c.12599-16T= (n.12599-16T=)
4g.125481506T>ACA1491668436FAT4c.12605-15T>A (n.12605-15T>A)
c.7376-15T>A (n.7376-15T>A)
c.7322-15T>A (n.7322-15T>A)
c.12599-15T>A (n.12599-15T>A)
 dbSNP
4g.125481506T>CCA1491668434FAT4c.12605-15T>C (n.12605-15T>C)
c.7376-15T>C (n.7376-15T>C)
c.7322-15T>C (n.7322-15T>C)
c.12599-15T>C (n.12599-15T>C)
 dbSNP
4g.125481506T=CA1491668433FAT4c.12605-15T= (n.12605-15T=)
c.7376-15T= (n.7376-15T=)
c.7322-15T= (n.7322-15T=)
c.12599-15T= (n.12599-15T=)
4g.125481507C=CA1491668438FAT4c.12605-14C= (n.12605-14C=)
c.7376-14C= (n.7376-14C=)
c.7322-14C= (n.7322-14C=)
c.12599-14C= (n.12599-14C=)
4g.125481507C>TCA554719886FAT4c.12605-14C>T (n.12605-14C>T)
c.7376-14C>T (n.7376-14C>T)
c.7322-14C>T (n.7322-14C>T)
c.12599-14C>T (n.12599-14C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125481507_125481508delCA2672012538FAT4c.12605-14_12605-13del (n.12605-14_12605-13del)
c.7376-14_7376-13del (n.7376-14_7376-13del)
c.7322-14_7322-13del (n.7322-14_7322-13del)
c.12599-14_12599-13del (n.12599-14_12599-13del)
 gnomAD v4
4g.125481508C=CA1491668442FAT4c.12605-13C= (n.12605-13C=)
c.7376-13C= (n.7376-13C=)
c.7322-13C= (n.7322-13C=)
c.12599-13C= (n.12599-13C=)
4g.125481508C>TCA554719889FAT4c.12605-13C>T (n.12605-13C>T)
c.7376-13C>T (n.7376-13C>T)
c.7322-13C>T (n.7322-13C>T)
c.12599-13C>T (n.12599-13C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125481509T>ACA1067680059FAT4c.12605-12T>A (n.12605-12T>A)
c.7376-12T>A (n.7376-12T>A)
c.7322-12T>A (n.7322-12T>A)
c.12599-12T>A (n.12599-12T>A)
 dbSNP gnomAD v3 gnomAD v4
4g.125481509T=CA1491668445FAT4c.12605-12T= (n.12605-12T=)
c.7376-12T= (n.7376-12T=)
c.7322-12T= (n.7322-12T=)
c.12599-12T= (n.12599-12T=)
4g.125481510T>CCA1491668448FAT4c.12605-11T>C (n.12605-11T>C)
c.7376-11T>C (n.7376-11T>C)
c.7322-11T>C (n.7322-11T>C)
c.12599-11T>C (n.12599-11T>C)
 dbSNP
4g.125481510T=CA1491668447FAT4c.12605-11T= (n.12605-11T=)
c.7376-11T= (n.7376-11T=)
c.7322-11T= (n.7322-11T=)
c.12599-11T= (n.12599-11T=)
4g.125481512G=CA1491668450FAT4c.12605-9G= (n.12605-9G=)
c.7376-9G= (n.7376-9G=)
c.7322-9G= (n.7322-9G=)
c.12599-9G= (n.12599-9G=)
4g.125481512G>TCA554719890FAT4c.12605-9G>T (n.12605-9G>T)
c.7376-9G>T (n.7376-9G>T)
c.7322-9G>T (n.7322-9G>T)
c.12599-9G>T (n.12599-9G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125481512_125481514delCA2672012539FAT4c.12605-9_12605-7del (n.12605-9_12605-7del)
c.7376-9_7376-7del (n.7376-9_7376-7del)
c.7322-9_7322-7del (n.7322-9_7322-7del)
c.12599-9_12599-7del (n.12599-9_12599-7del)
 gnomAD v4
4g.125481513A=CA1491668455FAT4c.12605-8A= (n.12605-8A=)
c.7376-8A= (n.7376-8A=)
c.7322-8A= (n.7322-8A=)
c.12599-8A= (n.12599-8A=)
4g.125481513A>TCA554719891FAT4c.12605-8A>T (n.12605-8A>T)
c.7376-8A>T (n.7376-8A>T)
c.7322-8A>T (n.7322-8A>T)
c.12599-8A>T (n.12599-8A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125481514C=CA1491668461FAT4c.12605-7C= (n.12605-7C=)
c.7376-7C= (n.7376-7C=)
c.7322-7C= (n.7322-7C=)
c.12599-7C= (n.12599-7C=)
4g.125481514C>TCA554719893FAT4c.12605-7C>T (n.12605-7C>T)
c.7376-7C>T (n.7376-7C>T)
c.7322-7C>T (n.7322-7C>T)
c.12599-7C>T (n.12599-7C>T)
 dbSNP gnomAD v2 gnomAD v4
4g.125481516T>CCA2517573928FAT4c.12605-5T>C (n.12605-5T>C)
c.7376-5T>C (n.7376-5T>C)
c.7322-5T>C (n.7322-5T>C)
c.12599-5T>C (n.12599-5T>C)
4g.125481516T>GCA2672012540FAT4c.12605-5T>G (n.12605-5T>G)
c.7376-5T>G (n.7376-5T>G)
c.7322-5T>G (n.7322-5T>G)
c.12599-5T>G (n.12599-5T>G)
 gnomAD v4
4g.125481517C>ACA3074161FAT4c.12605-4C>A (n.12605-4C>A)
c.7376-4C>A (n.7376-4C>A)
c.7322-4C>A (n.7322-4C>A)
c.12599-4C>A (n.12599-4C>A)
 dbSNP ExAC gnomAD v2
4g.125481517C=CA1491668467FAT4c.12605-4C= (n.12605-4C=)
c.7376-4C= (n.7376-4C=)
c.7322-4C= (n.7322-4C=)
c.12599-4C= (n.12599-4C=)
4g.125481517C>TCA554719895FAT4c.12605-4C>T (n.12605-4C>T)
c.7376-4C>T (n.7376-4C>T)
c.7322-4C>T (n.7322-4C>T)
c.12599-4C>T (n.12599-4C>T)
 dbSNP gnomAD v2 gnomAD v4
4g.125481518C>TCA2672012541FAT4c.12605-3C>T (n.12605-3C>T)
c.7376-3C>T (n.7376-3C>T)
c.7322-3C>T (n.7322-3C>T)
c.12599-3C>T (n.12599-3C>T)
 gnomAD v4
4g.125481519A>CCA358132393FAT4c.12605-2A>C (n.12605-2A>C)
c.7376-2A>C (n.7376-2A>C)
c.7322-2A>C (n.7322-2A>C)
c.12599-2A>C (n.12599-2A>C)
4g.125481519A>GCA358132392FAT4c.12605-2A>G (n.12605-2A>G)
c.7376-2A>G (n.7376-2A>G)
c.7322-2A>G (n.7322-2A>G)
c.12599-2A>G (n.12599-2A>G)
4g.125481519A>TCA358132391FAT4c.12605-2A>T (n.12605-2A>T)
c.7376-2A>T (n.7376-2A>T)
c.7322-2A>T (n.7322-2A>T)
c.12599-2A>T (n.12599-2A>T)
4g.125481520G>ACA358132394FAT4c.12605-1G>A (n.12605-1G>A)
c.7376-1G>A (n.7376-1G>A)
c.7322-1G>A (n.7322-1G>A)
c.12599-1G>A (n.12599-1G>A)
4g.125481520G>CCA358132395FAT4c.12605-1G>C (n.12605-1G>C)
c.7376-1G>C (n.7376-1G>C)
c.7322-1G>C (n.7322-1G>C)
c.12599-1G>C (n.12599-1G>C)
4g.125481520G=CA1491668479FAT4c.12605-1G= (n.12605-1G=)
c.7376-1G= (n.7376-1G=)
c.7322-1G= (n.7322-1G=)
c.12599-1G= (n.12599-1G=)
4g.125481520G>TCA358132396FAT4c.12605-1G>T (n.12605-1G>T)
c.7376-1G>T (n.7376-1G>T)
c.7322-1G>T (n.7322-1G>T)
c.12599-1G>T (n.12599-1G>T)
 dbSNP gnomAD v2
4g.125481521C>ACA358132397FAT4c.12605C>A (p.Ser4202Tyr)
c.7376C>A (p.Ser2459Tyr)
c.7322C>A (p.Thr2441Asn)
c.12599C>A (p.Ser4200Tyr)
4g.125481521C>GCA358132398FAT4c.12605C>G (p.Ser4202Cys)
c.7376C>G (p.Ser2459Cys)
c.7322C>G (p.Thr2441Ser)
c.12599C>G (p.Ser4200Cys)
4g.125481521C>TCA358132399FAT4c.12605C>T (p.Ser4202Phe)
c.7376C>T (p.Ser2459Phe)
c.7322C>T (p.Thr2441Ile)
c.12599C>T (p.Ser4200Phe)
4g.125481522T>ACA441204489FAT4c.12606T>A (p.Ser4202=)
c.7377T>A (p.Ser2459=)
c.7323T>A (p.Thr2441=)
c.12600T>A (p.Ser4200=)
4g.125481522T>CCA441204491FAT4c.12606T>C (p.Ser4202=)
c.7377T>C (p.Ser2459=)
c.7323T>C (p.Thr2441=)
c.12600T>C (p.Ser4200=)
4g.125481522T>GCA441204490FAT4c.12606T>G (p.Ser4202=)
c.7377T>G (p.Ser2459=)
c.7323T>G (p.Thr2441=)
c.12600T>G (p.Ser4200=)
4g.125481523G>ACA358132400FAT4c.12607G>A (p.Val4203Ile)
c.7378G>A (p.Val2460Ile)
c.7324G>A (p.Val2442Ile)
c.12601G>A (p.Val4201Ile)
4g.125481523G>CCA358132401FAT4c.12607G>C (p.Val4203Leu)
c.7378G>C (p.Val2460Leu)
c.7324G>C (p.Val2442Leu)
c.12601G>C (p.Val4201Leu)
4g.125481523G>TCA358132402FAT4c.12607G>T (p.Val4203Phe)
c.7378G>T (p.Val2460Phe)
c.7324G>T (p.Val2442Phe)
c.12601G>T (p.Val4201Phe)
4g.125481524T>ACA358132403FAT4c.12608T>A (p.Val4203Asp)
c.7379T>A (p.Val2460Asp)
c.7325T>A (p.Val2442Asp)
c.12602T>A (p.Val4201Asp)
4g.125481524T>CCA358132404FAT4c.12608T>C (p.Val4203Ala)
c.7379T>C (p.Val2460Ala)
c.7325T>C (p.Val2442Ala)
c.12602T>C (p.Val4201Ala)
4g.125481524T>GCA358132405FAT4c.12608T>G (p.Val4203Gly)
c.7379T>G (p.Val2460Gly)
c.7325T>G (p.Val2442Gly)
c.12602T>G (p.Val4201Gly)
4g.125481525T>ACA441204493FAT4c.12609T>A (p.Val4203=)
c.7380T>A (p.Val2460=)
c.7326T>A (p.Val2442=)
c.12603T>A (p.Val4201=)
4g.125481525T>CCA441204494FAT4c.12609T>C (p.Val4203=)
c.7380T>C (p.Val2460=)
c.7326T>C (p.Val2442=)
c.12603T>C (p.Val4201=)
 gnomAD v4
4g.125481525T>GCA441204495FAT4c.12609T>G (p.Val4203=)
c.7380T>G (p.Val2460=)
c.7326T>G (p.Val2442=)
c.12603T>G (p.Val4201=)
4g.125481526A>CCA358132407FAT4c.12610A>C (p.Thr4204Pro)
c.7381A>C (p.Thr2461Pro)
c.7327A>C (p.Thr2443Pro)
c.12604A>C (p.Thr4202Pro)
4g.125481526A>GCA358132408FAT4c.12610A>G (p.Thr4204Ala)
c.7381A>G (p.Thr2461Ala)
c.7327A>G (p.Thr2443Ala)
c.12604A>G (p.Thr4202Ala)
4g.125481526A>TCA358132406FAT4c.12610A>T (p.Thr4204Ser)
c.7381A>T (p.Thr2461Ser)
c.7327A>T (p.Thr2443Ser)
c.12604A>T (p.Thr4202Ser)
4g.125481527C>ACA358132409FAT4c.12611C>A (p.Thr4204Asn)
c.7382C>A (p.Thr2461Asn)
c.7328C>A (p.Thr2443Asn)
c.12605C>A (p.Thr4202Asn)
 gnomAD v4
4g.125481527C=CA1491668488FAT4c.12611C= (p.Thr4204=)
c.7382C= (p.Thr2461=)
c.7328C= (p.Thr2443=)
c.12605C= (p.Thr4202=)
4g.125481527C>GCA358132410FAT4c.12611C>G (p.Thr4204Ser)
c.7382C>G (p.Thr2461Ser)
c.7328C>G (p.Thr2443Ser)
c.12605C>G (p.Thr4202Ser)
4g.125481527C>TCA358132411FAT4c.12611C>T (p.Thr4204Ile)
c.7382C>T (p.Thr2461Ile)
c.7328C>T (p.Thr2443Ile)
c.12605C>T (p.Thr4202Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125481528T>ACA441204496FAT4c.12612T>A (p.Thr4204=)
c.7383T>A (p.Thr2461=)
c.7329T>A (p.Thr2443=)
c.12606T>A (p.Thr4202=)
 dbSNP gnomAD v3 gnomAD v4
4g.125481528T>CCA441204497FAT4c.12612T>C (p.Thr4204=)
c.7383T>C (p.Thr2461=)
c.7329T>C (p.Thr2443=)
c.12606T>C (p.Thr4202=)
4g.125481528T>GCA441204498FAT4c.12612T>G (p.Thr4204=)
c.7383T>G (p.Thr2461=)
c.7329T>G (p.Thr2443=)
c.12606T>G (p.Thr4202=)
4g.125481528T=CA1491668497FAT4c.12612T= (p.Thr4204=)
c.7383T= (p.Thr2461=)
c.7329T= (p.Thr2443=)
c.12606T= (p.Thr4202=)
4g.125481529C>ACA358132412FAT4c.12613C>A (p.Pro4205Thr)
c.7384C>A (p.Pro2462Thr)
c.7330C>A (p.Pro2444Thr)
c.12607C>A (p.Pro4203Thr)
4g.125481529C=CA1491668505FAT4c.12613C= (p.Pro4205=)
c.7384C= (p.Pro2462=)
c.7330C= (p.Pro2444=)
c.12607C= (p.Pro4203=)
4g.125481529C>GCA358132413FAT4c.12613C>G (p.Pro4205Ala)
c.7384C>G (p.Pro2462Ala)
c.7330C>G (p.Pro2444Ala)
c.12607C>G (p.Pro4203Ala)
4g.125481529C>TCA104870334FAT4c.12613C>T (p.Pro4205Ser)
c.7384C>T (p.Pro2462Ser)
c.7330C>T (p.Pro2444Ser)
c.12607C>T (p.Pro4203Ser)
 dbSNP gnomAD v4
4g.125481530C>ACA358132414FAT4c.12614C>A (p.Pro4205His)
c.7385C>A (p.Pro2462His)
c.7331C>A (p.Pro2444His)
c.12608C>A (p.Pro4203His)
4g.125481530C>GCA358132415FAT4c.12614C>G (p.Pro4205Arg)
c.7385C>G (p.Pro2462Arg)
c.7331C>G (p.Pro2444Arg)
c.12608C>G (p.Pro4203Arg)
4g.125481530C>TCA358132416FAT4c.12614C>T (p.Pro4205Leu)
c.7385C>T (p.Pro2462Leu)
c.7331C>T (p.Pro2444Leu)
c.12608C>T (p.Pro4203Leu)
4g.125481531T>ACA441204499FAT4c.12615T>A (p.Pro4205=)
c.7386T>A (p.Pro2462=)
c.7332T>A (p.Pro2444=)
c.12609T>A (p.Pro4203=)
4g.125481531T>CCA441204500FAT4c.12615T>C (p.Pro4205=)
c.7386T>C (p.Pro2462=)
c.7332T>C (p.Pro2444=)
c.12609T>C (p.Pro4203=)
 gnomAD v4
4g.125481531T>GCA441204501FAT4c.12615T>G (p.Pro4205=)
c.7386T>G (p.Pro2462=)
c.7332T>G (p.Pro2444=)
c.12609T>G (p.Pro4203=)
4g.125481532G>ACA358132417FAT4c.12616G>A (p.Asp4206Asn)
c.7387G>A (p.Asp2463Asn)
c.7333G>A (p.Asp2445Asn)
c.12610G>A (p.Asp4204Asn)
 dbSNP
4g.125481532G>CCA358132418FAT4c.12616G>C (p.Asp4206His)
c.7387G>C (p.Asp2463His)
c.7333G>C (p.Asp2445His)
c.12610G>C (p.Asp4204His)
4g.125481532G=CA1491668513FAT4c.12616G= (p.Asp4206=)
c.7387G= (p.Asp2463=)
c.7333G= (p.Asp2445=)
c.12610G= (p.Asp4204=)
4g.125481532G>TCA358132419FAT4c.12616G>T (p.Asp4206Tyr)
c.7387G>T (p.Asp2463Tyr)
c.7333G>T (p.Asp2445Tyr)
c.12610G>T (p.Asp4204Tyr)
4g.125481533A>CCA358132421FAT4c.12617A>C (p.Asp4206Ala)
c.7388A>C (p.Asp2463Ala)
c.7334A>C (p.Asp2445Ala)
c.12611A>C (p.Asp4204Ala)
4g.125481533A>GCA358132422FAT4c.12617A>G (p.Asp4206Gly)
c.7388A>G (p.Asp2463Gly)
c.7334A>G (p.Asp2445Gly)
c.12611A>G (p.Asp4204Gly)
4g.125481533A>TCA358132420FAT4c.12617A>T (p.Asp4206Val)
c.7388A>T (p.Asp2463Val)
c.7334A>T (p.Asp2445Val)
c.12611A>T (p.Asp4204Val)
4g.125481534C>ACA358132423FAT4c.12618C>A (p.Asp4206Glu)
c.7389C>A (p.Asp2463Glu)
c.7335C>A (p.Asp2445Glu)
c.12612C>A (p.Asp4204Glu)
 gnomAD v4
4g.125481534C=CA1491668516FAT4c.12618C= (p.Asp4206=)
c.7389C= (p.Asp2463=)
c.7335C= (p.Asp2445=)
c.12612C= (p.Asp4204=)
4g.125481534C>GCA358132424FAT4c.12618C>G (p.Asp4206Glu)
c.7389C>G (p.Asp2463Glu)
c.7335C>G (p.Asp2445Glu)
c.12612C>G (p.Asp4204Glu)
4g.125481534C>TCA441204502FAT4c.12618C>T (p.Asp4206=)
c.7389C>T (p.Asp2463=)
c.7335C>T (p.Asp2445=)
c.12612C>T (p.Asp4204=)
 dbSNP gnomAD v2 gnomAD v4
4g.125481535A=CA1491668521FAT4c.12619A= (p.Thr4207=)
c.7390A= (p.Thr2464=)
c.7336A= (p.Thr2446=)
c.12613A= (p.Thr4205=)
4g.125481535A>CCA358132425FAT4c.12619A>C (p.Thr4207Pro)
c.7390A>C (p.Thr2464Pro)
c.7336A>C (p.Thr2446Pro)
c.12613A>C (p.Thr4205Pro)
4g.125481535A>GCA358132426FAT4c.12619A>G (p.Thr4207Ala)
c.7390A>G (p.Thr2464Ala)
c.7336A>G (p.Thr2446Ala)
c.12613A>G (p.Thr4205Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125481535A>TCA358132427FAT4c.12619A>T (p.Thr4207Ser)
c.7390A>T (p.Thr2464Ser)
c.7336A>T (p.Thr2446Ser)
c.12613A>T (p.Thr4205Ser)
4g.125481536C>ACA358132429FAT4c.12620C>A (p.Thr4207Asn)
c.7391C>A (p.Thr2464Asn)
c.7337C>A (p.Thr2446Asn)
c.12614C>A (p.Thr4205Asn)
4g.125481536C=CA1491668527FAT4c.12620C= (p.Thr4207=)
c.7391C= (p.Thr2464=)
c.7337C= (p.Thr2446=)
c.12614C= (p.Thr4205=)
4g.125481536C>GCA358132428FAT4c.12620C>G (p.Thr4207Ser)
c.7391C>G (p.Thr2464Ser)
c.7337C>G (p.Thr2446Ser)
c.12614C>G (p.Thr4205Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.125481536C>TCA3074162FAT4c.12620C>T (p.Thr4207Ile)
c.7391C>T (p.Thr2464Ile)
c.7337C>T (p.Thr2446Ile)
c.12614C>T (p.Thr4205Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125481537T>ACA441204505FAT4c.12621T>A (p.Thr4207=)
c.7392T>A (p.Thr2464=)
c.7338T>A (p.Thr2446=)
c.12615T>A (p.Thr4205=)
4g.125481537T>CCA441204504FAT4c.12621T>C (p.Thr4207=)
c.7392T>C (p.Thr2464=)
c.7338T>C (p.Thr2446=)
c.12615T>C (p.Thr4205=)
4g.125481537T>GCA441204503FAT4c.12621T>G (p.Thr4207=)
c.7392T>G (p.Thr2464=)
c.7338T>G (p.Thr2446=)
c.12615T>G (p.Thr4205=)
4g.125481538G>ACA358132430FAT4c.12622G>A (p.Ala4208Thr)
c.7393G>A (p.Ala2465Thr)
c.7339G>A (p.Ala2447Thr)
c.12616G>A (p.Ala4206Thr)
4g.125481538G>CCA358132431FAT4c.12622G>C (p.Ala4208Pro)
c.7393G>C (p.Ala2465Pro)
c.7339G>C (p.Ala2447Pro)
c.12616G>C (p.Ala4206Pro)
4g.125481538G>TCA358132432FAT4c.12622G>T (p.Ala4208Ser)
c.7393G>T (p.Ala2465Ser)
c.7339G>T (p.Ala2447Ser)
c.12616G>T (p.Ala4206Ser)
 ClinVar
4g.125481539C>ACA358132433FAT4c.12623C>A (p.Ala4208Asp)
c.7394C>A (p.Ala2465Asp)
c.7340C>A (p.Ala2447Asp)
c.12617C>A (p.Ala4206Asp)
4g.125481539C>GCA358132434FAT4c.12623C>G (p.Ala4208Gly)
c.7394C>G (p.Ala2465Gly)
c.7340C>G (p.Ala2447Gly)
c.12617C>G (p.Ala4206Gly)
4g.125481539C>TCA358132435FAT4c.12623C>T (p.Ala4208Val)
c.7394C>T (p.Ala2465Val)
c.7340C>T (p.Ala2447Val)
c.12617C>T (p.Ala4206Val)
 gnomAD v4
4g.125481540C>ACA441204506FAT4c.12624C>A (p.Ala4208=)
c.7395C>A (p.Ala2465=)
c.7341C>A (p.Ala2447=)
c.12618C>A (p.Ala4206=)
4g.125481540C=CA1491668533FAT4c.12624C= (p.Ala4208=)
c.7395C= (p.Ala2465=)
c.7341C= (p.Ala2447=)
c.12618C= (p.Ala4206=)
4g.125481540C>GCA441204507FAT4c.12624C>G (p.Ala4208=)
c.7395C>G (p.Ala2465=)
c.7341C>G (p.Ala2447=)
c.12618C>G (p.Ala4206=)
4g.125481540C>TCA104870339FAT4c.12624C>T (p.Ala4208=)
c.7395C>T (p.Ala2465=)
c.7341C>T (p.Ala2447=)
c.12618C>T (p.Ala4206=)
 dbSNP
4g.125481541T>ACA358132437FAT4c.12625T>A (p.Leu4209Ile)
c.7396T>A (p.Leu2466Ile)
c.7342T>A (p.Leu2448Ile)
c.12619T>A (p.Leu4207Ile)
4g.125481541T>CCA441204508FAT4c.12625T>C (p.Leu4209=)
c.7396T>C (p.Leu2466=)
c.7342T>C (p.Leu2448=)
c.12619T>C (p.Leu4207=)
4g.125481541T>GCA358132436FAT4c.12625T>G (p.Leu4209Val)
c.7396T>G (p.Leu2466Val)
c.7342T>G (p.Leu2448Val)
c.12619T>G (p.Leu4207Val)
4g.125481542dupCA2672012542FAT4c.12626dup (p.Leu4209PhefsTer17)
c.7397dup (p.Leu2466PhefsTer17)
c.7343dup (p.Leu2448PhefsTer17)
c.12620dup (p.Leu4207PhefsTer17)
 gnomAD v4
4g.125481542T>ACA358132438FAT4c.12626T>A (p.Leu4209Ter)
c.7397T>A (p.Leu2466Ter)
c.7343T>A (p.Leu2448Ter)
c.12620T>A (p.Leu4207Ter)
4g.125481542T>CCA358132440FAT4c.12626T>C (p.Leu4209Ser)
c.7397T>C (p.Leu2466Ser)
c.7343T>C (p.Leu2448Ser)
c.12620T>C (p.Leu4207Ser)
4g.125481542T>GCA358132439FAT4c.12626T>G (p.Leu4209Ter)
c.7397T>G (p.Leu2466Ter)
c.7343T>G (p.Leu2448Ter)
c.12620T>G (p.Leu4207Ter)
4g.125481543A=CA1491668538FAT4c.12627A= (p.Leu4209=)
c.7398A= (p.Leu2466=)
c.7344A= (p.Leu2448=)
c.12621A= (p.Leu4207=)
4g.125481543A>CCA358132441FAT4c.12627A>C (p.Leu4209Phe)
c.7398A>C (p.Leu2466Phe)
c.7344A>C (p.Leu2448Phe)
c.12621A>C (p.Leu4207Phe)
4g.125481543A>GCA441204509FAT4c.12627A>G (p.Leu4209=)
c.7398A>G (p.Leu2466=)
c.7344A>G (p.Leu2448=)
c.12621A>G (p.Leu4207=)
 dbSNP gnomAD v2 gnomAD v4
4g.125481543A>TCA358132442FAT4c.12627A>T (p.Leu4209Phe)
c.7398A>T (p.Leu2466Phe)
c.7344A>T (p.Leu2448Phe)
c.12621A>T (p.Leu4207Phe)
 gnomAD v4
4g.125481544T>ACA358132443FAT4c.12628T>A (p.Ser4210Thr)
c.7399T>A (p.Ser2467Thr)
c.7345T>A (p.Ser2449Thr)
c.12622T>A (p.Ser4208Thr)
4g.125481544T>CCA358132444FAT4c.12628T>C (p.Ser4210Pro)
c.7399T>C (p.Ser2467Pro)
c.7345T>C (p.Ser2449Pro)
c.12622T>C (p.Ser4208Pro)
4g.125481544T>GCA358132445FAT4c.12628T>G (p.Ser4210Ala)
c.7399T>G (p.Ser2467Ala)
c.7345T>G (p.Ser2449Ala)
c.12622T>G (p.Ser4208Ala)
4g.125481545C>ACA358132446FAT4c.12629C>A (p.Ser4210Ter)
c.7400C>A (p.Ser2467Ter)
c.7346C>A (p.Ser2449Ter)
c.12623C>A (p.Ser4208Ter)
4g.125481545C>GCA358132447FAT4c.12629C>G (p.Ser4210Ter)
c.7400C>G (p.Ser2467Ter)
c.7346C>G (p.Ser2449Ter)
c.12623C>G (p.Ser4208Ter)
4g.125481545C>TCA358132448FAT4c.12629C>T (p.Ser4210Leu)
c.7400C>T (p.Ser2467Leu)
c.7346C>T (p.Ser2449Leu)
c.12623C>T (p.Ser4208Leu)
 gnomAD v4 COSMIC COSMIC
4g.125481546A>CCA441204510FAT4c.12630A>C (p.Ser4210=)
c.7401A>C (p.Ser2467=)
c.7347A>C (p.Ser2449=)
c.12624A>C (p.Ser4208=)
4g.125481546A>GCA441204511FAT4c.12630A>G (p.Ser4210=)
c.7401A>G (p.Ser2467=)
c.7347A>G (p.Ser2449=)
c.12624A>G (p.Ser4208=)
4g.125481546A>TCA441204512FAT4c.12630A>T (p.Ser4210=)
c.7401A>T (p.Ser2467=)
c.7347A>T (p.Ser2449=)
c.12624A>T (p.Ser4208=)
4g.125481547T>ACA358132449FAT4c.12631T>A (p.Leu4211Ile)
c.7402T>A (p.Leu2468Ile)
c.7348T>A (p.Leu2450Ile)
c.12625T>A (p.Leu4209Ile)
4g.125481547T>CCA441204513FAT4c.12631T>C (p.Leu4211=)
c.7402T>C (p.Leu2468=)
c.7348T>C (p.Leu2450=)
c.12625T>C (p.Leu4209=)
4g.125481547T>GCA358132450FAT4c.12631T>G (p.Leu4211Val)
c.7402T>G (p.Leu2468Val)
c.7348T>G (p.Leu2450Val)
c.12625T>G (p.Leu4209Val)
4g.125481548T>ACA358132451FAT4c.12632T>A (p.Leu4211Ter)
c.7403T>A (p.Leu2468Ter)
c.7349T>A (p.Leu2450Ter)
c.12626T>A (p.Leu4209Ter)
4g.125481548T>CCA358132452FAT4c.12632T>C (p.Leu4211Ser)
c.7403T>C (p.Leu2468Ser)
c.7349T>C (p.Leu2450Ser)
c.12626T>C (p.Leu4209Ser)
4g.125481548T>GCA358132453FAT4c.12632T>G (p.Leu4211Ter)
c.7403T>G (p.Leu2468Ter)
c.7349T>G (p.Leu2450Ter)
c.12626T>G (p.Leu4209Ter)
4g.125481549A>CCA358132454FAT4c.12633A>C (p.Leu4211Phe)
c.7404A>C (p.Leu2468Phe)
c.7350A>C (p.Leu2450Phe)
c.12627A>C (p.Leu4209Phe)
4g.125481549A>GCA441204514FAT4c.12633A>G (p.Leu4211=)
c.7404A>G (p.Leu2468=)
c.7350A>G (p.Leu2450=)
c.12627A>G (p.Leu4209=)
4g.125481549A>TCA358132455FAT4c.12633A>T (p.Leu4211Phe)
c.7404A>T (p.Leu2468Phe)
c.7350A>T (p.Leu2450Phe)
c.12627A>T (p.Leu4209Phe)
4g.125481550G>ACA358132456FAT4c.12634G>A (p.Glu4212Lys)
c.7405G>A (p.Glu2469Lys)
c.7351G>A (p.Glu2451Lys)
c.12628G>A (p.Glu4210Lys)
4g.125481550G>CCA358132457FAT4c.12634G>C (p.Glu4212Gln)
c.7405G>C (p.Glu2469Gln)
c.7351G>C (p.Glu2451Gln)
c.12628G>C (p.Glu4210Gln)
4g.125481550G>TCA358132458FAT4c.12634G>T (p.Glu4212Ter)
c.7405G>T (p.Glu2469Ter)
c.7351G>T (p.Glu2451Ter)
c.12628G>T (p.Glu4210Ter)
4g.125481551A=CA1491668544FAT4c.12635A= (p.Glu4212=)
c.7406A= (p.Glu2469=)
c.7352A= (p.Glu2451=)
c.12629A= (p.Glu4210=)
4g.125481551A>CCA358132459FAT4c.12635A>C (p.Glu4212Ala)
c.7406A>C (p.Glu2469Ala)
c.7352A>C (p.Glu2451Ala)
c.12629A>C (p.Glu4210Ala)
4g.125481551A>GCA104870340FAT4c.12635A>G (p.Glu4212Gly)
c.7406A>G (p.Glu2469Gly)
c.7352A>G (p.Glu2451Gly)
c.12629A>G (p.Glu4210Gly)
 dbSNP
4g.125481551A>TCA358132460FAT4c.12635A>T (p.Glu4212Val)
c.7406A>T (p.Glu2469Val)
c.7352A>T (p.Glu2451Val)
c.12629A>T (p.Glu4210Val)
4g.125481552A>CCA358132461FAT4c.12636A>C (p.Glu4212Asp)
c.7407A>C (p.Glu2469Asp)
c.7353A>C (p.Glu2451Asp)
c.12630A>C (p.Glu4210Asp)
4g.125481552A>GCA441204515FAT4c.12636A>G (p.Glu4212=)
c.7407A>G (p.Glu2469=)
c.7353A>G (p.Glu2451=)
c.12630A>G (p.Glu4210=)
4g.125481552A>TCA358132462FAT4c.12636A>T (p.Glu4212Asp)
c.7407A>T (p.Glu2469Asp)
c.7353A>T (p.Glu2451Asp)
c.12630A>T (p.Glu4210Asp)
4g.125481553G>ACA358132463FAT4c.12637G>A (p.Gly4213Ser)
c.7408G>A (p.Gly2470Ser)
c.7354G>A (p.Gly2452Ser)
c.12631G>A (p.Gly4211Ser)
 gnomAD v4
4g.125481553G>CCA358132464FAT4c.12637G>C (p.Gly4213Arg)
c.7408G>C (p.Gly2470Arg)
c.7354G>C (p.Gly2452Arg)
c.12631G>C (p.Gly4211Arg)
 dbSNP
4g.125481553G=CA1491668550FAT4c.12637G= (p.Gly4213=)
c.7408G= (p.Gly2470=)
c.7354G= (p.Gly2452=)
c.12631G= (p.Gly4211=)
4g.125481553G>TCA358132465FAT4c.12637G>T (p.Gly4213Cys)
c.7408G>T (p.Gly2470Cys)
c.7354G>T (p.Gly2452Cys)
c.12631G>T (p.Gly4211Cys)
4g.125481554G>ACA358132468FAT4c.12638G>A (p.Gly4213Asp)
c.7409G>A (p.Gly2470Asp)
c.7355G>A (p.Gly2452Asp)
c.12632G>A (p.Gly4211Asp)
4g.125481554G>CCA358132467FAT4c.12638G>C (p.Gly4213Ala)
c.7409G>C (p.Gly2470Ala)
c.7355G>C (p.Gly2452Ala)
c.12632G>C (p.Gly4211Ala)
4g.125481554G>TCA358132466FAT4c.12638G>T (p.Gly4213Val)
c.7409G>T (p.Gly2470Val)
c.7355G>T (p.Gly2452Val)
c.12632G>T (p.Gly4211Val)
4g.125481555C>ACA441204516FAT4c.12639C>A (p.Gly4213=)
c.7410C>A (p.Gly2470=)
c.7356C>A (p.Gly2452=)
c.12633C>A (p.Gly4211=)
4g.125481555C=CA1491668556FAT4c.12639C= (p.Gly4213=)
c.7410C= (p.Gly2470=)
c.7356C= (p.Gly2452=)
c.12633C= (p.Gly4211=)
4g.125481555C>GCA441204517FAT4c.12639C>G (p.Gly4213=)
c.7410C>G (p.Gly2470=)
c.7356C>G (p.Gly2452=)
c.12633C>G (p.Gly4211=)
4g.125481555C>TCA441204518FAT4c.12639C>T (p.Gly4213=)
c.7410C>T (p.Gly2470=)
c.7356C>T (p.Gly2452=)
c.12633C>T (p.Gly4211=)
 dbSNP gnomAD v2 gnomAD v4
4g.125481555_125481556delinsCACA1491668557FAT4c.12639_12640delinsCA (p.Gly4213=)
c.7410_7411delinsCA (p.Gly2470=)
c.7356_7357delinsCA (p.Gly2452=)
c.12633_12634delinsCA (p.Gly4211=)
4g.125481556A>CCA358132471FAT4c.12640A>C (p.Lys4214Gln)
c.7411A>C (p.Lys2471Gln)
c.7357A>C (p.Lys2453Gln)
c.12634A>C (p.Lys4212Gln)
 gnomAD v4
4g.125481556A>GCA358132469FAT4c.12640A>G (p.Lys4214Glu)
c.7411A>G (p.Lys2471Glu)
c.7357A>G (p.Lys2453Glu)
c.12634A>G (p.Lys4212Glu)
4g.125481556A>TCA358132470FAT4c.12640A>T (p.Lys4214Ter)
c.7411A>T (p.Lys2471Ter)
c.7357A>T (p.Lys2453Ter)
c.12634A>T (p.Lys4212Ter)
4g.125481558delCA1491668562FAT4c.12642del (p.Arg4216AlafsTer6)
c.7413del (p.Arg2473AlafsTer6)
c.7359del (p.Arg2455AlafsTer6)
c.12636del (p.Arg4214AlafsTer6)
 dbSNP
4g.125481557A=CA1491668569FAT4c.12641A= (p.Lys4214=)
c.7412A= (p.Lys2471=)
c.7358A= (p.Lys2453=)
c.12635A= (p.Lys4212=)
4g.125481557A>CCA358132472FAT4c.12641A>C (p.Lys4214Thr)
c.7412A>C (p.Lys2471Thr)
c.7358A>C (p.Lys2453Thr)
c.12635A>C (p.Lys4212Thr)
 dbSNP
4g.125481557A>GCA358132473FAT4c.12641A>G (p.Lys4214Arg)
c.7412A>G (p.Lys2471Arg)
c.7358A>G (p.Lys2453Arg)
c.12635A>G (p.Lys4212Arg)
 gnomAD v4
4g.125481557A>TCA358132474FAT4c.12641A>T (p.Lys4214Ile)
c.7412A>T (p.Lys2471Ile)
c.7358A>T (p.Lys2453Ile)
c.12635A>T (p.Lys4212Ile)
4g.125481558A>CCA358132475FAT4c.12642A>C (p.Lys4214Asn)
c.7413A>C (p.Lys2471Asn)
c.7359A>C (p.Lys2453Asn)
c.12636A>C (p.Lys4212Asn)
4g.125481558A>GCA441204519FAT4c.12642A>G (p.Lys4214=)
c.7413A>G (p.Lys2471=)
c.7359A>G (p.Lys2453=)
c.12636A>G (p.Lys4212=)
4g.125481558A>TCA358132476FAT4c.12642A>T (p.Lys4214Asn)
c.7413A>T (p.Lys2471Asn)
c.7359A>T (p.Lys2453Asn)
c.12636A>T (p.Lys4212Asn)
4g.125481559G>ACA358132477FAT4c.12643G>A (p.Gly4215Arg)
c.7414G>A (p.Gly2472Arg)
c.7360G>A (p.Gly2454Arg)
c.12637G>A (p.Gly4213Arg)
4g.125481559G>CCA358132478FAT4c.12643G>C (p.Gly4215Arg)
c.7414G>C (p.Gly2472Arg)
c.7360G>C (p.Gly2454Arg)
c.12637G>C (p.Gly4213Arg)
4g.125481559G>TCA358132479FAT4c.12643G>T (p.Gly4215Trp)
c.7414G>T (p.Gly2472Trp)
c.7360G>T (p.Gly2454Trp)
c.12637G>T (p.Gly4213Trp)
4g.125481560G>ACA358132480FAT4c.12644G>A (p.Gly4215Glu)
c.7415G>A (p.Gly2472Glu)
c.7361G>A (p.Gly2454Glu)
c.12638G>A (p.Gly4213Glu)
4g.125481560G>CCA358132481FAT4c.12644G>C (p.Gly4215Ala)
c.7415G>C (p.Gly2472Ala)
c.7361G>C (p.Gly2454Ala)
c.12638G>C (p.Gly4213Ala)
 ClinVar dbSNP
4g.125481560G>TCA358132482FAT4c.12644G>T (p.Gly4215Val)
c.7415G>T (p.Gly2472Val)
c.7361G>T (p.Gly2454Val)
c.12638G>T (p.Gly4213Val)
 gnomAD v4
4g.125481561G>ACA441204520FAT4c.12645G>A (p.Gly4215=)
c.7416G>A (p.Gly2472=)
c.7362G>A (p.Gly2454=)
c.12639G>A (p.Gly4213=)
 gnomAD v4
4g.125481561G>CCA441204521FAT4c.12645G>C (p.Gly4215=)
c.7416G>C (p.Gly2472=)
c.7362G>C (p.Gly2454=)
c.12639G>C (p.Gly4213=)
4g.125481561G>TCA441204522FAT4c.12645G>T (p.Gly4215=)
c.7416G>T (p.Gly2472=)
c.7362G>T (p.Gly2454=)
c.12639G>T (p.Gly4213=)
4g.125481562C>ACA358132484FAT4c.12646C>A (p.Arg4216Ser)
c.7417C>A (p.Arg2473Ser)
c.7363C>A (p.Arg2455Ser)
c.12640C>A (p.Arg4214Ser)
4g.125481562C=CA1491668579FAT4c.12646C= (p.Arg4216=)
c.7417C= (p.Arg2473=)
c.7363C= (p.Arg2455=)
c.12640C= (p.Arg4214=)
4g.125481562C>GCA358132483FAT4c.12646C>G (p.Arg4216Gly)
c.7417C>G (p.Arg2473Gly)
c.7363C>G (p.Arg2455Gly)
c.12640C>G (p.Arg4214Gly)
4g.125481562C>TCA3074163FAT4c.12646C>T (p.Arg4216Cys)
c.7417C>T (p.Arg2473Cys)
c.7363C>T (p.Arg2455Cys)
c.12640C>T (p.Arg4214Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125481563G>ACA3074164FAT4c.12647G>A (p.Arg4216His)
c.7418G>A (p.Arg2473His)
c.7364G>A (p.Arg2455His)
c.12641G>A (p.Arg4214His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125481563G>CCA358132485FAT4c.12647G>C (p.Arg4216Pro)
c.7418G>C (p.Arg2473Pro)
c.7364G>C (p.Arg2455Pro)
c.12641G>C (p.Arg4214Pro)
4g.125481563G=CA1491668594FAT4c.12647G= (p.Arg4216=)
c.7418G= (p.Arg2473=)
c.7364G= (p.Arg2455=)
c.12641G= (p.Arg4214=)
4g.125481563G>TCA358132486FAT4c.12647G>T (p.Arg4216Leu)
c.7418G>T (p.Arg2473Leu)
c.7364G>T (p.Arg2455Leu)
c.12641G>T (p.Arg4214Leu)
4g.125481564C>ACA441204523FAT4c.12648C>A (p.Arg4216=)
c.7419C>A (p.Arg2473=)
c.7365C>A (p.Arg2455=)
c.12642C>A (p.Arg4214=)
4g.125481564C>GCA441204524FAT4c.12648C>G (p.Arg4216=)
c.7419C>G (p.Arg2473=)
c.7365C>G (p.Arg2455=)
c.12642C>G (p.Arg4214=)
4g.125481564C>TCA441204525FAT4c.12648C>T (p.Arg4216=)
c.7419C>T (p.Arg2473=)
c.7365C>T (p.Arg2455=)
c.12642C>T (p.Arg4214=)
4g.125481565T>ACA358132487FAT4c.12649T>A (p.Leu4217Met)
c.7420T>A (p.Leu2474Met)
c.7366T>A (p.Leu2456Met)
c.12643T>A (p.Leu4215Met)
4g.125481565T>CCA441204526FAT4c.12649T>C (p.Leu4217=)
c.7420T>C (p.Leu2474=)
c.7366T>C (p.Leu2456=)
c.12643T>C (p.Leu4215=)
 gnomAD v4
4g.125481565T>GCA358132488FAT4c.12649T>G (p.Leu4217Val)
c.7420T>G (p.Leu2474Val)
c.7366T>G (p.Leu2456Val)
c.12643T>G (p.Leu4215Val)
 dbSNP gnomAD v4
4g.125481566T>ACA358132489FAT4c.12650T>A (p.Leu4217Ter)
c.7421T>A (p.Leu2474Ter)
c.7367T>A (p.Leu2456Ter)
c.12644T>A (p.Leu4215Ter)
4g.125481566T>CCA358132490FAT4c.12650T>C (p.Leu4217Ser)
c.7421T>C (p.Leu2474Ser)
c.7367T>C (p.Leu2456Ser)
c.12644T>C (p.Leu4215Ser)
4g.125481566T>GCA358132491FAT4c.12650T>G (p.Leu4217Trp)
c.7421T>G (p.Leu2474Trp)
c.7367T>G (p.Leu2456Trp)
c.12644T>G (p.Leu4215Trp)
4g.125481567G>ACA441204527FAT4c.12651G>A (p.Leu4217=)
c.7422G>A (p.Leu2474=)
c.7368G>A (p.Leu2456=)
c.12645G>A (p.Leu4215=)
4g.125481567G>CCA358132492FAT4c.12651G>C (p.Leu4217Phe)
c.7422G>C (p.Leu2474Phe)
c.7368G>C (p.Leu2456Phe)
c.12645G>C (p.Leu4215Phe)
4g.125481567G>TCA358132493FAT4c.12651G>T (p.Leu4217Phe)
c.7422G>T (p.Leu2474Phe)
c.7368G>T (p.Leu2456Phe)
c.12645G>T (p.Leu4215Phe)
 COSMIC COSMIC COSMIC
4g.125481568G>ACA358132494FAT4c.12652G>A (p.Asp4218Asn)
c.7423G>A (p.Asp2475Asn)
c.7369G>A (p.Asp2457Asn)
c.12646G>A (p.Asp4216Asn)
4g.125481568G>CCA358132495FAT4c.12652G>C (p.Asp4218His)
c.7423G>C (p.Asp2475His)
c.7369G>C (p.Asp2457His)
c.12646G>C (p.Asp4216His)
4g.125481568G>TCA358132496FAT4c.12652G>T (p.Asp4218Tyr)
c.7423G>T (p.Asp2475Tyr)
c.7369G>T (p.Asp2457Tyr)
c.12646G>T (p.Asp4216Tyr)
4g.125481569A>CCA358132498FAT4c.12653A>C (p.Asp4218Ala)
c.7424A>C (p.Asp2475Ala)
c.7370A>C (p.Asp2457Ala)
c.12647A>C (p.Asp4216Ala)
4g.125481569A>GCA358132499FAT4c.12653A>G (p.Asp4218Gly)
c.7424A>G (p.Asp2475Gly)
c.7370A>G (p.Asp2457Gly)
c.12647A>G (p.Asp4216Gly)
4g.125481569A>TCA358132497FAT4c.12653A>T (p.Asp4218Val)
c.7424A>T (p.Asp2475Val)
c.7370A>T (p.Asp2457Val)
c.12647A>T (p.Asp4216Val)
4g.125481570C>ACA358132500FAT4c.12654C>A (p.Asp4218Glu)
c.7425C>A (p.Asp2475Glu)
c.7371C>A (p.Asp2457Glu)
c.12648C>A (p.Asp4216Glu)
4g.125481570C>GCA358132501FAT4c.12654C>G (p.Asp4218Glu)
c.7425C>G (p.Asp2475Glu)
c.7371C>G (p.Asp2457Glu)
c.12648C>G (p.Asp4216Glu)
4g.125481570C>TCA441204528FAT4c.12654C>T (p.Asp4218=)
c.7425C>T (p.Asp2475=)
c.7371C>T (p.Asp2457=)
c.12648C>T (p.Asp4216=)
4g.125481571T>ACA358132502FAT4c.12655T>A (p.Tyr4219Asn)
c.7426T>A (p.Tyr2476Asn)
c.7372T>A (p.Tyr2458Asn)
c.12649T>A (p.Tyr4217Asn)
4g.125481571T>CCA358132503FAT4c.12655T>C (p.Tyr4219His)
c.7426T>C (p.Tyr2476His)
c.7372T>C (p.Tyr2458His)
c.12649T>C (p.Tyr4217His)
4g.125481571T>GCA358132504FAT4c.12655T>G (p.Tyr4219Asp)
c.7426T>G (p.Tyr2476Asp)
c.7372T>G (p.Tyr2458Asp)
c.12649T>G (p.Tyr4217Asp)
4g.125481572A=CA1491668599FAT4c.12656A= (p.Tyr4219=)
c.7427A= (p.Tyr2476=)
c.7373A= (p.Tyr2458=)
c.12650A= (p.Tyr4217=)
4g.125481572A>CCA358132505FAT4c.12656A>C (p.Tyr4219Ser)
c.7427A>C (p.Tyr2476Ser)
c.7373A>C (p.Tyr2458Ser)
c.12650A>C (p.Tyr4217Ser)
4g.125481572A>GCA358132506FAT4c.12656A>G (p.Tyr4219Cys)
c.7427A>G (p.Tyr2476Cys)
c.7373A>G (p.Tyr2458Cys)
c.12650A>G (p.Tyr4217Cys)
 dbSNP
4g.125481572A>TCA358132507FAT4c.12656A>T (p.Tyr4219Phe)
c.7427A>T (p.Tyr2476Phe)
c.7373A>T (p.Tyr2458Phe)
c.12650A>T (p.Tyr4217Phe)
4g.125481573C>ACA358132508FAT4c.12657C>A (p.Tyr4219Ter)
c.7428C>A (p.Tyr2476Ter)
c.7374C>A (p.Tyr2458Ter)
c.12651C>A (p.Tyr4217Ter)
4g.125481573C=CA1491668603FAT4c.12657C= (p.Tyr4219=)
c.7428C= (p.Tyr2476=)
c.7374C= (p.Tyr2458=)
c.12651C= (p.Tyr4217=)
4g.125481573C>GCA358132509FAT4c.12657C>G (p.Tyr4219Ter)
c.7428C>G (p.Tyr2476Ter)
c.7374C>G (p.Tyr2458Ter)
c.12651C>G (p.Tyr4217Ter)
4g.125481573C>TCA441204529FAT4c.12657C>T (p.Tyr4219=)
c.7428C>T (p.Tyr2476=)
c.7374C>T (p.Tyr2458=)
c.12651C>T (p.Tyr4217=)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched