Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.69420174_69420196delinsTTGGATCACCACCATTATTATTC | CA1553917002 | MARVELD2 | c.789_811delinsTTGGATCACCACCATTATTATTC (p.Ala263=) c.725+64_725+86delinsTTGGATCACCACCATTATTATTC (n.725+64_725+86delinsTTGGATCACCACCATTATTATTC) | |
5 | g.69420178_69420199del | CA560299380 | MARVELD2 | c.793_814del (p.Ile265PhefsTer20) c.725+68_725+89del (n.725+68_725+89del) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.69420182_69420184delinsCCA | CA1553917021 | MARVELD2 | c.797_799delinsCCA (p.Thr266=) c.725+72_725+74delinsCCA (n.725+72_725+74delinsCCA) | |
5 | g.69420183C>A | CA445084081 | MARVELD2 | c.798C>A (p.Thr266=) c.725+73C>A (n.725+73C>A) | |
5 | g.69420183C>G | CA445084082 | MARVELD2 | c.798C>G (p.Thr266=) c.725+73C>G (n.725+73C>G) | |
5 | g.69420183C>T | CA445084083 | MARVELD2 | c.798C>T (p.Thr266=) c.725+73C>T (n.725+73C>T) | |
5 | g.69420184_69420185del | CA3294115 | MARVELD2 | c.799_800del (p.Thr267HisfsTer20) c.725+74_725+75del (n.725+74_725+75del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69420184A= | CA1553917030 | MARVELD2 | c.799A= (p.Thr267=) c.725+74A= (n.725+74A=) | |
5 | g.69420184A>C | CA359924596 | MARVELD2 | c.799A>C (p.Thr267Pro) c.725+74A>C (n.725+74A>C) | |
5 | g.69420184A>G | CA3294116 | MARVELD2 | c.799A>G (p.Thr267Ala) c.725+74A>G (n.725+74A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.69420184A>T | CA359924593 | MARVELD2 | c.799A>T (p.Thr267Ser) c.725+74A>T (n.725+74A>T) | |
5 | g.69420185C>A | CA359924598 | MARVELD2 | c.800C>A (p.Thr267Asn) c.725+75C>A (n.725+75C>A) | |
5 | g.69420185C= | CA1553917031 | MARVELD2 | c.800C= (p.Thr267=) c.725+75C= (n.725+75C=) | |
5 | g.69420185C>G | CA359924600 | MARVELD2 | c.800C>G (p.Thr267Ser) c.725+75C>G (n.725+75C>G) | |
5 | g.69420185C>T | CA3294117 | MARVELD2 | c.800C>T (p.Thr267Ile) c.725+75C>T (n.725+75C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.69420186C>A | CA445084084 | MARVELD2 | c.801C>A (p.Thr267=) c.725+76C>A (n.725+76C>A) | |
5 | g.69420186C= | CA1553917036 | MARVELD2 | c.801C= (p.Thr267=) c.725+76C= (n.725+76C=) | |
5 | g.69420186C>G | CA445084085 | MARVELD2 | c.801C>G (p.Thr267=) c.725+76C>G (n.725+76C>G) | |
5 | g.69420186C>T | CA3294118 | MARVELD2 | c.801C>T (p.Thr267=) c.725+76C>T (n.725+76C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69420187A= | CA1553917039 | MARVELD2 | c.802A= (p.Ile268=) c.725+77A= (n.725+77A=) | |
5 | g.69420187A>C | CA359924605 | MARVELD2 | c.802A>C (p.Ile268Leu) c.725+77A>C (n.725+77A>C) | |
5 | g.69420187A>G | CA3294119 | MARVELD2 | c.802A>G (p.Ile268Val) c.725+77A>G (n.725+77A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
5 | g.69420187A>T | CA359924608 | MARVELD2 | c.802A>T (p.Ile268Phe) c.725+77A>T (n.725+77A>T) | |
5 | g.69420187_69420188del | CA2578329379 | MARVELD2 | c.802_803del (p.Ile268TyrfsTer19) c.725+77_725+78del (n.725+77_725+78del) | |
5 | g.69420188T>A | CA359924611 | MARVELD2 | c.803T>A (p.Ile268Asn) c.725+78T>A (n.725+78T>A) | dbSNP |
5 | g.69420188T>C | CA359924613 | MARVELD2 | c.803T>C (p.Ile268Thr) c.725+78T>C (n.725+78T>C) | |
5 | g.69420188T>G | CA359924615 | MARVELD2 | c.803T>G (p.Ile268Ser) c.725+78T>G (n.725+78T>G) | |
5 | g.69420188T= | CA1553917042 | MARVELD2 | c.803T= (p.Ile268=) c.725+78T= (n.725+78T=) | |
5 | g.69420189T>A | CA445084087 | MARVELD2 | c.804T>A (p.Ile268=) c.725+79T>A (n.725+79T>A) | |
5 | g.69420189T>C | CA445084086 | MARVELD2 | c.804T>C (p.Ile268=) c.725+79T>C (n.725+79T>C) | |
5 | g.69420189T>G | CA359924617 | MARVELD2 | c.804T>G (p.Ile268Met) c.725+79T>G (n.725+79T>G) | |
5 | g.69420190A>C | CA359924619 | MARVELD2 | c.805A>C (p.Ile269Leu) c.725+80A>C (n.725+80A>C) | |
5 | g.69420190A>G | CA359924624 | MARVELD2 | c.805A>G (p.Ile269Val) c.725+80A>G (n.725+80A>G) | gnomAD v4 |
5 | g.69420190A>T | CA359924622 | MARVELD2 | c.805A>T (p.Ile269Phe) c.725+80A>T (n.725+80A>T) | |
5 | g.69420191T>A | CA359924626 | MARVELD2 | c.806T>A (p.Ile269Asn) c.725+81T>A (n.725+81T>A) | |
5 | g.69420191T>C | CA359924628 | MARVELD2 | c.806T>C (p.Ile269Thr) c.725+81T>C (n.725+81T>C) | |
5 | g.69420191T>G | CA359924630 | MARVELD2 | c.806T>G (p.Ile269Ser) c.725+81T>G (n.725+81T>G) | |
5 | g.69420192T>A | CA445084088 | MARVELD2 | c.807T>A (p.Ile269=) c.725+82T>A (n.725+82T>A) | |
5 | g.69420192T>C | CA445084089 | MARVELD2 | c.807T>C (p.Ile269=) c.725+82T>C (n.725+82T>C) | gnomAD v4 |
5 | g.69420192T>G | CA359924631 | MARVELD2 | c.807T>G (p.Ile269Met) c.725+82T>G (n.725+82T>G) | |
5 | g.69420193A= | CA1553917045 | MARVELD2 | c.808A= (p.Ile270=) c.725+83A= (n.725+83A=) | |
5 | g.69420193A>C | CA3294120 | MARVELD2 | c.808A>C (p.Ile270Leu) c.725+83A>C (n.725+83A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.69420193A>G | CA359924634 | MARVELD2 | c.808A>G (p.Ile270Val) c.725+83A>G (n.725+83A>G) | |
5 | g.69420193A>T | CA359924636 | MARVELD2 | c.808A>T (p.Ile270Phe) c.725+83A>T (n.725+83A>T) | |
5 | g.69420194T>A | CA359924638 | MARVELD2 | c.809T>A (p.Ile270Asn) c.725+84T>A (n.725+84T>A) | |
5 | g.69420194T>C | CA359924640 | MARVELD2 | c.809T>C (p.Ile270Thr) c.725+84T>C (n.725+84T>C) | |
5 | g.69420194T>G | CA359924642 | MARVELD2 | c.809T>G (p.Ile270Ser) c.725+84T>G (n.725+84T>G) | |
5 | g.69420195T>A | CA445084090 | MARVELD2 | c.810T>A (p.Ile270=) c.725+85T>A (n.725+85T>A) | |
5 | g.69420195T>C | CA445084091 | MARVELD2 | c.810T>C (p.Ile270=) c.725+85T>C (n.725+85T>C) | |
5 | g.69420195T>G | CA359924645 | MARVELD2 | c.810T>G (p.Ile270Met) c.725+85T>G (n.725+85T>G) |