Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.1496307_1496376del | CA9047555 | REEP6 | c.371_440del (p.Met124ThrfsTer5) c.187_256del c.155_224del (p.Met52ThrfsTer5) | ExAC gnomAD v2 gnomAD v4 |
19 | g.1496320del | CA2583000724 | REEP6 | c.384del (p.Trp129GlyfsTer17) c.200del c.168del (p.Trp57GlyfsTer17) | gnomAD v4 |
19 | g.1496319C>A | CA403056941 | REEP6 | c.383C>A (p.Pro128His) c.199C>A c.167C>A (p.Pro56His) | |
19 | g.1496319C= | CA2317756607 | REEP6 | c.383C= (p.Pro128=) c.199C= c.167C= (p.Pro56=) | |
19 | g.1496319C>G | CA403056942 | REEP6 | c.383C>G (p.Pro128Arg) c.199C>G c.167C>G (p.Pro56Arg) | |
19 | g.1496319C>T | CA16044007 | REEP6 | c.383C>T (p.Pro128Leu) c.199C>T c.167C>T (p.Pro56Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.1496320C>A | CA504733262 | REEP6 | c.384C>A (p.Pro128=) c.200C>A c.168C>A (p.Pro56=) | |
19 | g.1496320C= | CA2317756608 | REEP6 | c.384C= (p.Pro128=) c.200C= c.168C= (p.Pro56=) | |
19 | g.1496320C>G | CA504733265 | REEP6 | c.384C>G (p.Pro128=) c.200C>G c.168C>G (p.Pro56=) | |
19 | g.1496320C>T | CA504733269 | REEP6 | c.384C>T (p.Pro128=) c.200C>T c.168C>T (p.Pro56=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1496321T>A | CA403056943 | REEP6 | c.385T>A (p.Trp129Arg) c.201T>A c.169T>A (p.Trp57Arg) | |
19 | g.1496321T>C | CA403056944 | REEP6 | c.385T>C (p.Trp129Arg) c.201T>C c.169T>C (p.Trp57Arg) | gnomAD v4 |
19 | g.1496321T>G | CA403056945 | REEP6 | c.385T>G (p.Trp129Gly) c.201T>G c.169T>G (p.Trp57Gly) | |
19 | g.1496322G>A | CA403056947 | REEP6 | c.386G>A (p.Trp129Ter) c.202G>A c.170G>A (p.Trp57Ter) | |
19 | g.1496322G>C | CA403056948 | REEP6 | c.386G>C (p.Trp129Ser) c.202G>C c.170G>C (p.Trp57Ser) | |
19 | g.1496322G>T | CA403056946 | REEP6 | c.386G>T (p.Trp129Leu) c.202G>T c.170G>T (p.Trp57Leu) | |
19 | g.1496323G>A | CA403056949 | REEP6 | c.387G>A (p.Trp129Ter) c.203G>A c.171G>A (p.Trp57Ter) | COSMIC COSMIC |
19 | g.1496323G>C | CA403056950 | REEP6 | c.387G>C (p.Trp129Cys) c.203G>C c.171G>C (p.Trp57Cys) | |
19 | g.1496323G= | CA2317756609 | REEP6 | c.387G= (p.Trp129=) c.203G= c.171G= (p.Trp57=) | |
19 | g.1496323G>T | CA403056951 | REEP6 | c.387G>T (p.Trp129Cys) c.203G>T c.171G>T (p.Trp57Cys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1496324A>C | CA403056952 | REEP6 | c.388A>C (p.Asn130His) c.204A>C c.172A>C (p.Asn58His) | |
19 | g.1496324A>G | CA403056953 | REEP6 | c.388A>G (p.Asn130Asp) c.204A>G c.172A>G (p.Asn58Asp) | |
19 | g.1496324A>T | CA403056954 | REEP6 | c.388A>T (p.Asn130Tyr) c.204A>T c.172A>T (p.Asn58Tyr) | |
19 | g.1496325A>C | CA403056957 | REEP6 | c.389A>C (p.Asn130Thr) c.205A>C c.173A>C (p.Asn58Thr) | |
19 | g.1496325A>G | CA403056955 | REEP6 | c.389A>G (p.Asn130Ser) c.205A>G c.173A>G (p.Asn58Ser) | |
19 | g.1496325A>T | CA403056956 | REEP6 | c.389A>T (p.Asn130Ile) c.205A>T c.173A>T (p.Asn58Ile) | |
19 | g.1496326C>A | CA403056958 | REEP6 | c.390C>A (p.Asn130Lys) c.206C>A c.174C>A (p.Asn58Lys) | |
19 | g.1496326C= | CA2317756610 | REEP6 | c.390C= (p.Asn130=) c.206C= c.174C= (p.Asn58=) | |
19 | g.1496326C>G | CA403056959 | REEP6 | c.390C>G (p.Asn130Lys) c.206C>G c.174C>G (p.Asn58Lys) | |
19 | g.1496326C>T | CA9047558 | REEP6 | c.390C>T (p.Asn130=) c.206C>T c.174C>T (p.Asn58=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1496327G>A | CA304100493 | REEP6 | c.391G>A (p.Gly131Arg) c.207G>A c.175G>A (p.Gly59Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.1496327G>C | CA403056960 | REEP6 | c.391G>C (p.Gly131Arg) c.207G>C c.175G>C (p.Gly59Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1496327G= | CA2317756611 | REEP6 | c.391G= (p.Gly131=) c.207G= c.175G= (p.Gly59=) | |
19 | g.1496327G>T | CA403056961 | REEP6 | c.391G>T (p.Gly131Trp) c.207G>T c.175G>T (p.Gly59Trp) | |
19 | g.1496328G>A | CA403056962 | REEP6 | c.392G>A (p.Gly131Glu) c.208G>A c.176G>A (p.Gly59Glu) | |
19 | g.1496328G>C | CA403056964 | REEP6 | c.392G>C (p.Gly131Ala) c.208G>C c.176G>C (p.Gly59Ala) | |
19 | g.1496328G>T | CA403056963 | REEP6 | c.392G>T (p.Gly131Val) c.208G>T c.176G>T (p.Gly59Val) | |
19 | g.1496329G>A | CA504733350 | REEP6 | c.393G>A (p.Gly131=) c.209G>A c.177G>A (p.Gly59=) | gnomAD v4 |
19 | g.1496329G>C | CA504733354 | REEP6 | c.393G>C (p.Gly131=) c.209G>C c.177G>C (p.Gly59=) | gnomAD v4 |
19 | g.1496329G>T | CA504733345 | REEP6 | c.393G>T (p.Gly131=) c.209G>T c.177G>T (p.Gly59=) | |
19 | g.1496330G>A | CA9047559 | REEP6 | c.394G>A (p.Ala132Thr) c.210G>A c.178G>A (p.Ala60Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1496330G>C | CA403056965 | REEP6 | c.394G>C (p.Ala132Pro) c.210G>C c.178G>C (p.Ala60Pro) | |
19 | g.1496330G= | CA2317756612 | REEP6 | c.394G= (p.Ala132=) c.210G= c.178G= (p.Ala60=) | |
19 | g.1496330G>T | CA403056966 | REEP6 | c.394G>T (p.Ala132Ser) c.210G>T c.178G>T (p.Ala60Ser) | COSMIC COSMIC |
19 | g.1496331C>A | CA403056967 | REEP6 | c.395C>A (p.Ala132Asp) c.211C>A c.179C>A (p.Ala60Asp) | |
19 | g.1496331C>G | CA403056968 | REEP6 | c.395C>G (p.Ala132Gly) c.211C>G c.179C>G (p.Ala60Gly) | |
19 | g.1496331C>T | CA403056969 | REEP6 | c.395C>T (p.Ala132Val) c.211C>T c.179C>T (p.Ala60Val) | ClinVar gnomAD v4 |
19 | g.1496332T>A | CA504733375 | REEP6 | c.396T>A (p.Ala132=) c.212T>A c.180T>A (p.Ala60=) | |
19 | g.1496332T>C | CA504733378 | REEP6 | c.396T>C (p.Ala132=) c.212T>C c.180T>C (p.Ala60=) | |
19 | g.1496332T>G | CA504733377 | REEP6 | c.396T>G (p.Ala132=) c.212T>G c.180T>G (p.Ala60=) |