Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.110174740C>A | CA388664787 | COL4A1 | c.3208G>T (p.Gly1070Trp) c.3016G>T (p.Gly1006Trp) | |
13 | g.110174740C= | CA2118737962 | COL4A1 | c.3208G= (p.Gly1070=) c.3016G= (p.Gly1006=) | |
13 | g.110174740C>G | CA388664788 | COL4A1 | c.3208G>C (p.Gly1070Arg) c.3016G>C (p.Gly1006Arg) | |
13 | g.110174740C>T | CA16606387 | COL4A1 | c.3208G>A (p.Gly1070Arg) c.3016G>A (p.Gly1006Arg) | ClinVar dbSNP |
13 | g.110174741T>A | CA388664790 | COL4A1 | c.3207A>T (p.Gln1069His) c.3015A>T (p.Gln1005His) | |
13 | g.110174741T>C | CA7047333 | COL4A1 | c.3207A>G (p.Gln1069=) c.3015A>G (p.Gln1005=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110174741T>G | CA388664793 | COL4A1 | c.3207A>C (p.Gln1069His) c.3015A>C (p.Gln1005His) | |
13 | g.110174741T= | CA2118737967 | COL4A1 | c.3207A= (p.Gln1069=) c.3015A= (p.Gln1005=) | |
13 | g.110174742T>A | CA388664796 | COL4A1 | c.3206A>T (p.Gln1069Leu) c.3014A>T (p.Gln1005Leu) | |
13 | g.110174742T>C | CA388664800 | COL4A1 | c.3206A>G (p.Gln1069Arg) c.3014A>G (p.Gln1005Arg) | gnomAD v4 |
13 | g.110174742T>G | CA388664798 | COL4A1 | c.3206A>C (p.Gln1069Pro) c.3014A>C (p.Gln1005Pro) | |
13 | g.110174743G>A | CA388664802 | COL4A1 | c.3205C>T (p.Gln1069Ter) c.3013C>T (p.Gln1005Ter) | |
13 | g.110174743G>C | CA7047334 | COL4A1 | c.3205C>G (p.Gln1069Glu) c.3013C>G (p.Gln1005Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.110174743G= | CA2118737970 | COL4A1 | c.3205C= (p.Gln1069=) c.3013C= (p.Gln1005=) | |
13 | g.110174743G>T | CA388664805 | COL4A1 | c.3205C>A (p.Gln1069Lys) c.3013C>A (p.Gln1005Lys) | |
13 | g.110174744A>C | CA388664807 | COL4A1 | c.3204T>G (p.Asp1068Glu) c.3012T>G (p.Asp1004Glu) | |
13 | g.110174744A>G | CA484789423 | COL4A1 | c.3204T>C (p.Asp1068=) c.3012T>C (p.Asp1004=) | |
13 | g.110174744A>T | CA388664808 | COL4A1 | c.3204T>A (p.Asp1068Glu) c.3012T>A (p.Asp1004Glu) | |
13 | g.110174745T>A | CA388664810 | COL4A1 | c.3203A>T (p.Asp1068Val) c.3011A>T (p.Asp1004Val) | ClinVar |
13 | g.110174745T>C | CA388664812 | COL4A1 | c.3203A>G (p.Asp1068Gly) c.3011A>G (p.Asp1004Gly) | |
13 | g.110174745T>G | CA388664813 | COL4A1 | c.3203A>C (p.Asp1068Ala) c.3011A>C (p.Asp1004Ala) | |
13 | g.110174746C>A | CA388664815 | COL4A1 | c.3202G>T (p.Asp1068Tyr) c.3010G>T (p.Asp1004Tyr) | gnomAD v4 COSMIC |
13 | g.110174746C= | CA2118737975 | COL4A1 | c.3202G= (p.Asp1068=) c.3010G= (p.Asp1004=) | |
13 | g.110174746C>G | CA388664816 | COL4A1 | c.3202G>C (p.Asp1068His) c.3010G>C (p.Asp1004His) | |
13 | g.110174746C>T | CA388664819 | COL4A1 | c.3202G>A (p.Asp1068Asn) c.3010G>A (p.Asp1004Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110174747T>A | CA484789424 | COL4A1 | c.3201A>T (p.Gly1067=) c.3009A>T (p.Gly1003=) | |
13 | g.110174747T>C | CA484789425 | COL4A1 | c.3201A>G (p.Gly1067=) c.3009A>G (p.Gly1003=) | |
13 | g.110174747T>G | CA484789426 | COL4A1 | c.3201A>C (p.Gly1067=) c.3009A>C (p.Gly1003=) | |
13 | g.110174748C>A | CA388664825 | COL4A1 | c.3200G>T (p.Gly1067Val) c.3008G>T (p.Gly1003Val) | |
13 | g.110174748C>G | CA388664823 | COL4A1 | c.3200G>C (p.Gly1067Ala) c.3008G>C (p.Gly1003Ala) | |
13 | g.110174748C>T | CA388664821 | COL4A1 | c.3200G>A (p.Gly1067Glu) c.3008G>A (p.Gly1003Glu) | COSMIC COSMIC |
13 | g.110174749C>A | CA388664829 | COL4A1 | c.3199G>T (p.Gly1067Ter) c.3007G>T (p.Gly1003Ter) | |
13 | g.110174749C>G | CA388664827 | COL4A1 | c.3199G>C (p.Gly1067Arg) c.3007G>C (p.Gly1003Arg) | |
13 | g.110174749C>T | CA388664831 | COL4A1 | c.3199G>A (p.Gly1067Arg) c.3007G>A (p.Gly1003Arg) | ClinVar |
13 | g.110174750C>A | CA388664834 | COL4A1 | c.3199-1G>T (n.3199-1G>T) c.3007-1G>T (n.3007-1G>T) | |
13 | g.110174750C>G | CA388664835 | COL4A1 | c.3199-1G>C (n.3199-1G>C) c.3007-1G>C (n.3007-1G>C) | |
13 | g.110174750C>T | CA388664837 | COL4A1 | c.3199-1G>A (n.3199-1G>A) c.3007-1G>A (n.3007-1G>A) | |
13 | g.110174751T>A | CA388664839 | COL4A1 | c.3199-2A>T (n.3199-2A>T) c.3007-2A>T (n.3007-2A>T) | |
13 | g.110174751T>C | CA388664841 | COL4A1 | c.3199-2A>G (n.3199-2A>G) c.3007-2A>G (n.3007-2A>G) | |
13 | g.110174751T>G | CA388664843 | COL4A1 | c.3199-2A>C (n.3199-2A>C) c.3007-2A>C (n.3007-2A>C) | |
13 | g.110174752G>A | CA2623673492 | COL4A1 | c.3199-3C>T (n.3199-3C>T) c.3007-3C>T (n.3007-3C>T) | gnomAD v4 |
13 | g.110174752G= | CA2118737977 | COL4A1 | c.3199-3C= (n.3199-3C=) c.3007-3C= (n.3007-3C=) | |
13 | g.110174753C= | CA2118737982 | COL4A1 | c.3199-4G= (n.3199-4G=) c.3007-4G= (n.3007-4G=) | |
13 | g.110174753C>G | CA2118737981 | COL4A1 | c.3199-4G>C (n.3199-4G>C) c.3007-4G>C (n.3007-4G>C) | dbSNP |
13 | g.110174753C>T | CA612866314 | COL4A1 | c.3199-4G>A (n.3199-4G>A) c.3007-4G>A (n.3007-4G>A) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.110174753dup | CA2118737980 | COL4A1 | c.3199-4dup (n.3199-4dup) c.3007-4dup (n.3007-4dup) | dbSNP gnomAD v4 |
13 | g.110174754A>C | CA2739277720 | COL4A1 | c.3199-5T>G (n.3199-5T>G) c.3007-5T>G (n.3007-5T>G) | ClinVar |
13 | g.110174756G>A | CA7047335 | COL4A1 | c.3199-7C>T (n.3199-7C>T) c.3007-7C>T (n.3007-7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.110174756G= | CA2118737983 | COL4A1 | c.3199-7C= (n.3199-7C=) c.3007-7C= (n.3007-7C=) | |
13 | g.110174757T>C | CA2623673493 | COL4A1 | c.3199-8A>G (n.3199-8A>G) c.3007-8A>G (n.3007-8A>G) | gnomAD v4 |