Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.153725500_153725831del | CA2580101691 | ABCD1 | c.234_565del (p.Leu79AlafsTer5) n.650_981del | ClinVar |
X | g.153725682_153725693del | CA2695237376 | ABCD1 | c.416_427del (p.Leu139_Leu142del) n.832_843del | |
X | g.153725686C>A | CA10549951 | ABCD1 | c.420C>A (p.Ile140=) n.836C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153725686C= | CA2466451017 | ABCD1 | c.420C= (p.Ile140=) n.836C= | |
X | g.153725686C>G | CA415098820 | ABCD1 | c.420C>G (p.Ile140Met) n.836C>G | |
X | g.153725686C>T | CA10549952 | ABCD1 | c.420C>T (p.Ile140=) n.836C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153725687G>A | CA278381 | ABCD1 | c.421G>A (p.Ala141Thr) n.837G>A | ClinVar dbSNP COSMIC |
X | g.153725687G>C | CA415098822 | ABCD1 | c.421G>C (p.Ala141Pro) n.837G>C | |
X | g.153725687G= | CA2466451018 | ABCD1 | c.421G= (p.Ala141=) n.837G= | |
X | g.153725687G>T | CA415098821 | ABCD1 | c.421G>T (p.Ala141Ser) n.837G>T | dbSNP |
X | g.153725689_153725697dup | CA2695237380 | ABCD1 | c.423_431dup (p.Ala144_Thr145insLeuProAla) n.839_847dup | |
X | g.153725688C>A | CA415098823 | ABCD1 | c.422C>A (p.Ala141Asp) n.838C>A | gnomAD v4 |
X | g.153725688C= | CA2466451019 | ABCD1 | c.422C= (p.Ala141=) n.838C= | |
X | g.153725688C>G | CA415098824 | ABCD1 | c.422C>G (p.Ala141Gly) n.838C>G | gnomAD v4 |
X | g.153725688C>T | CA415098825 | ABCD1 | c.422C>T (p.Ala141Val) n.838C>T | ClinVar dbSNP |
X | g.153725690del | CA2695237382 | ABCD1 | c.424del (p.Leu142SerfsTer?) n.840del | |
X | g.153725689C>A | CA519345548 | ABCD1 | c.423C>A (p.Ala141=) n.839C>A | |
X | g.153725689C= | CA2466451020 | ABCD1 | c.423C= (p.Ala141=) n.839C= | |
X | g.153725689C>G | CA519345549 | ABCD1 | c.423C>G (p.Ala141=) n.839C>G | |
X | g.153725689C>T | CA519345550 | ABCD1 | c.423C>T (p.Ala141=) n.839C>T | ClinVar dbSNP gnomAD v4 |
X | g.153725690C>A | CA415098826 | ABCD1 | c.424C>A (p.Leu142Ile) n.840C>A | |
X | g.153725690C= | CA2466451021 | ABCD1 | c.424C= (p.Leu142=) n.840C= | |
X | g.153725690C>G | CA415098827 | ABCD1 | c.424C>G (p.Leu142Val) n.840C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153725690C>T | CA415098828 | ABCD1 | c.424C>T (p.Leu142Phe) n.840C>T | |
X | g.153725691_153725692del | CA2573055135 | ABCD1 | c.425_426del (p.Leu142ProfsTer?) n.841_842del | ClinVar dbSNP |
X | g.153725691T>A | CA415098829 | ABCD1 | c.425T>A (p.Leu142His) n.841T>A | |
X | g.153725691T>C | CA415098830 | ABCD1 | c.425T>C (p.Leu142Pro) n.841T>C | |
X | g.153725691T>G | CA415098831 | ABCD1 | c.425T>G (p.Leu142Arg) n.841T>G | |
X | g.153725692C>A | CA519345553 | ABCD1 | c.426C>A (p.Leu142=) n.842C>A | |
X | g.153725692C= | CA2466451022 | ABCD1 | c.426C= (p.Leu142=) n.842C= | |
X | g.153725692C>G | CA519345554 | ABCD1 | c.426C>G (p.Leu142=) n.842C>G | |
X | g.153725692C>T | CA10549953 | ABCD1 | c.426C>T (p.Leu142=) n.842C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153725693C>A | CA415098833 | ABCD1 | c.427C>A (p.Pro143Thr) n.843C>A | |
X | g.153725693C>G | CA415098834 | ABCD1 | c.427C>G (p.Pro143Ala) n.843C>G | |
X | g.153725693C>T | CA415098832 | ABCD1 | c.427C>T (p.Pro143Ser) n.843C>T | |
X | g.153725694C>A | CA415098836 | ABCD1 | c.428C>A (p.Pro143His) n.844C>A | |
X | g.153725694C>G | CA415098835 | ABCD1 | c.428C>G (p.Pro143Arg) n.844C>G | |
X | g.153725694C>T | CA415098837 | ABCD1 | c.428C>T (p.Pro143Leu) n.844C>T | ClinVar |
X | g.153725695T>A | CA519345555 | ABCD1 | c.429T>A (p.Pro143=) n.845T>A | |
X | g.153725695T>C | CA519345556 | ABCD1 | c.429T>C (p.Pro143=) n.845T>C | |
X | g.153725695T>G | CA519345557 | ABCD1 | c.429T>G (p.Pro143=) n.845T>G | |
X | g.153725696G>A | CA415098838 | ABCD1 | c.430G>A (p.Ala144Thr) n.846G>A | ClinVar |
X | g.153725696G>C | CA415098839 | ABCD1 | c.430G>C (p.Ala144Pro) n.846G>C | |
X | g.153725696G>T | CA415098840 | ABCD1 | c.430G>T (p.Ala144Ser) n.846G>T | |
X | g.153725697C>A | CA415098841 | ABCD1 | c.431C>A (p.Ala144Asp) n.847C>A | |
X | g.153725697C>G | CA415098842 | ABCD1 | c.431C>G (p.Ala144Gly) n.847C>G | |
X | g.153725697C>T | CA415098843 | ABCD1 | c.431C>T (p.Ala144Val) n.847C>T | ClinVar |
X | g.153725698T>A | CA519345560 | ABCD1 | c.432T>A (p.Ala144=) n.848T>A | |
X | g.153725698T>C | CA519345561 | ABCD1 | c.432T>C (p.Ala144=) n.848T>C | |
X | g.153725698T>G | CA519345562 | ABCD1 | c.432T>G (p.Ala144=) n.848T>G |