Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.153743256_153743258del | CA2466457646 | ABCD1 | c.1901_1903del (p.Ala634del) n.2373_2375del | dbSNP |
X | g.153743258G>A | CA337242826 | ABCD1 | c.1903G>A (p.Val635Met) n.2375G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.153743258G>C | CA415116895 | ABCD1 | c.1903G>C (p.Val635Leu) n.2375G>C | |
X | g.153743258G= | CA2466457650 | ABCD1 | c.1903G= (p.Val635=) n.2375G= | |
X | g.153743258G>T | CA415116899 | ABCD1 | c.1903G>T (p.Val635Leu) n.2375G>T | gnomAD v4 |
X | g.153743258_153743259insCCA | CA2695236851 | ABCD1 | c.1903_1904insCCA (p.Val635delinsAlaMet) n.2375_2376insCCA | |
X | g.153743259T>A | CA415116903 | ABCD1 | c.1904T>A (p.Val635Glu) n.2376T>A | |
X | g.153743259T>C | CA247934 | ABCD1 | c.1904T>C (p.Val635Ala) n.2376T>C | ClinVar dbSNP |
X | g.153743259T>G | CA415116908 | ABCD1 | c.1904T>G (p.Val635Gly) n.2376T>G | |
X | g.153743259T= | CA2466457651 | ABCD1 | c.1904T= (p.Val635=) n.2376T= | |
X | g.153743260G>A | CA519231046 | ABCD1 | c.1905G>A (p.Val635=) n.2377G>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.153743260G>C | CA519231049 | ABCD1 | c.1905G>C (p.Val635=) n.2377G>C | |
X | g.153743260G= | CA2466457652 | ABCD1 | c.1905G= (p.Val635=) n.2377G= | |
X | g.153743260G>T | CA519231053 | ABCD1 | c.1905G>T (p.Val635=) n.2377G>T | ClinVar dbSNP gnomAD v4 |
X | g.153743261A>C | CA415116924 | ABCD1 | c.1906A>C (p.Ser636Arg) n.2378A>C | |
X | g.153743261A>G | CA415116926 | ABCD1 | c.1906A>G (p.Ser636Gly) n.2378A>G | |
X | g.153743261A>T | CA415116929 | ABCD1 | c.1906A>T (p.Ser636Cys) n.2378A>T | |
X | g.153743263_153743281del | CA2695236852 | ABCD1 | c.1908_1926del (p.Ser636ArgfsTer?) n.2380_2398del | |
X | g.153743262G>A | CA415116936 | ABCD1 | c.1907G>A (p.Ser636Asn) n.2379G>A | |
X | g.153743262G>C | CA415116940 | ABCD1 | c.1907G>C (p.Ser636Thr) n.2379G>C | |
X | g.153743262G= | CA2466457653 | ABCD1 | c.1907G= (p.Ser636=) n.2379G= | |
X | g.153743262G>T | CA415116945 | ABCD1 | c.1907G>T (p.Ser636Ile) n.2379G>T | ClinVar dbSNP |
X | g.153743263C>A | CA415116947 | ABCD1 | c.1908C>A (p.Ser636Arg) n.2380C>A | |
X | g.153743263C>G | CA415116949 | ABCD1 | c.1908C>G (p.Ser636Arg) n.2380C>G | |
X | g.153743263C>T | CA519231066 | ABCD1 | c.1908C>T (p.Ser636=) n.2380C>T | |
X | g.153743264del | CA2695236853 | ABCD1 | c.1909del (p.Ile637SerfsTer?) n.2381del | |
X | g.153743264A= | CA2466457654 | ABCD1 | c.1909A= (p.Ile637=) n.2381A= | |
X | g.153743264A>C | CA415116951 | ABCD1 | c.1909A>C (p.Ile637Leu) n.2381A>C | |
X | g.153743264A>G | CA10550356 | ABCD1 | c.1909A>G (p.Ile637Val) n.2381A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153743264A>T | CA415116957 | ABCD1 | c.1909A>T (p.Ile637Phe) n.2381A>T | |
X | g.153743265T>A | CA415116960 | ABCD1 | c.1910T>A (p.Ile637Asn) n.2382T>A | |
X | g.153743265T>C | CA415116963 | ABCD1 | c.1910T>C (p.Ile637Thr) n.2382T>C | |
X | g.153743265T>G | CA415116965 | ABCD1 | c.1910T>G (p.Ile637Ser) n.2382T>G | |
X | g.153743266C>A | CA519231076 | ABCD1 | c.1911C>A (p.Ile637=) n.2383C>A | |
X | g.153743266C= | CA2466457655 | ABCD1 | c.1911C= (p.Ile637=) n.2383C= | |
X | g.153743266C>G | CA415116967 | ABCD1 | c.1911C>G (p.Ile637Met) n.2383C>G | |
X | g.153743266C>T | CA10550357 | ABCD1 | c.1911C>T (p.Ile637=) n.2383C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153743268_153743270del | CA913189081 | ABCD1 | c.1913_1915del (p.Asp638del) n.2385_2387del | |
X | g.153743266_153743275del | CA2695236854 | ABCD1 | c.1911_1920del (p.Ile637MetfsTer?) n.2383_2392del | |
X | g.153743267G>A | CA415116973 | ABCD1 | c.1912G>A (p.Asp638Asn) n.2384G>A | ClinVar dbSNP gnomAD v4 |
X | g.153743267G>C | CA10606398 | ABCD1 | c.1912G>C (p.Asp638His) n.2384G>C | ClinVar dbSNP |
X | g.153743267G= | CA2466457656 | ABCD1 | c.1912G= (p.Asp638=) n.2384G= | |
X | g.153743267G>T | CA415116978 | ABCD1 | c.1912G>T (p.Asp638Tyr) n.2384G>T | |
X | g.153743268A>C | CA415116998 | ABCD1 | c.1913A>C (p.Asp638Ala) n.2385A>C | |
X | g.153743268A>G | CA415117008 | ABCD1 | c.1913A>G (p.Asp638Gly) n.2385A>G | |
X | g.153743268A>T | CA415116980 | ABCD1 | c.1913A>T (p.Asp638Val) n.2385A>T | |
X | g.153743269C>A | CA415117014 | ABCD1 | c.1914C>A (p.Asp638Glu) n.2386C>A | |
X | g.153743269C= | CA2466457657 | ABCD1 | c.1914C= (p.Asp638=) n.2386C= | |
X | g.153743269C>G | CA415117013 | ABCD1 | c.1914C>G (p.Asp638Glu) n.2386C>G | |
X | g.153743269C>T | CA10550358 | ABCD1 | c.1914C>T (p.Asp638=) n.2386C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |