Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.5044688_5044759del | CA6399646 | KCNA5 | c.541_612del (p.Ser181_Gln204del) | ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044714C>A | CA478095659 | KCNA5 | c.567C>A (p.Val189=) | |
12 | g.5044714C>G | CA478095660 | KCNA5 | c.567C>G (p.Val189=) | |
12 | g.5044714C>T | CA478095661 | KCNA5 | c.567C>T (p.Val189=) | gnomAD v4 |
12 | g.5044715A>C | CA383464699 | KCNA5 | c.568A>C (p.Asn190His) | gnomAD v4 |
12 | g.5044715A>G | CA383464700 | KCNA5 | c.568A>G (p.Asn190Asp) | gnomAD v4 |
12 | g.5044715A>T | CA383464701 | KCNA5 | c.568A>T (p.Asn190Tyr) | |
12 | g.5044716A= | CA2013430834 | KCNA5 | c.569A= (p.Asn190=) | |
12 | g.5044716A>C | CA6399658 | KCNA5 | c.569A>C (p.Asn190Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044716A>G | CA6399657 | KCNA5 | c.569A>G (p.Asn190Ser) | ClinVar dbSNP ExAC gnomAD v4 |
12 | g.5044716A>T | CA383464702 | KCNA5 | c.569A>T (p.Asn190Ile) | |
12 | g.5044717C>A | CA383464703 | KCNA5 | c.570C>A (p.Asn190Lys) | |
12 | g.5044717C= | CA2013430835 | KCNA5 | c.570C= (p.Asn190=) | |
12 | g.5044717C>G | CA231867447 | KCNA5 | c.570C>G (p.Asn190Lys) | ClinVar dbSNP |
12 | g.5044717C>T | CA6399659 | KCNA5 | c.570C>T (p.Asn190=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044718G>A | CA383464704 | KCNA5 | c.571G>A (p.Val191Ile) | gnomAD v4 |
12 | g.5044718G>C | CA383464705 | KCNA5 | c.571G>C (p.Val191Leu) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044718G= | CA2013430836 | KCNA5 | c.571G= (p.Val191=) | |
12 | g.5044718G>T | CA383464706 | KCNA5 | c.571G>T (p.Val191Phe) | |
12 | g.5044719T>A | CA383464708 | KCNA5 | c.572T>A (p.Val191Asp) | |
12 | g.5044719T>C | CA383464709 | KCNA5 | c.572T>C (p.Val191Ala) | |
12 | g.5044719T>G | CA383464707 | KCNA5 | c.572T>G (p.Val191Gly) | |
12 | g.5044720C>A | CA478095092 | KCNA5 | c.573C>A (p.Val191=) | dbSNP |
12 | g.5044720C= | CA2013430837 | KCNA5 | c.573C= (p.Val191=) | |
12 | g.5044720C>G | CA478095093 | KCNA5 | c.573C>G (p.Val191=) | |
12 | g.5044720C>T | CA478095091 | KCNA5 | c.573C>T (p.Val191=) | |
12 | g.5044721T>A | CA383464710 | KCNA5 | c.574T>A (p.Ser192Thr) | |
12 | g.5044721T>C | CA383464711 | KCNA5 | c.574T>C (p.Ser192Pro) | |
12 | g.5044721T>G | CA383464712 | KCNA5 | c.574T>G (p.Ser192Ala) | |
12 | g.5044722C>A | CA6399660 | KCNA5 | c.575C>A (p.Ser192Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044722C= | CA2013430838 | KCNA5 | c.575C= (p.Ser192=) | |
12 | g.5044722C>G | CA383464713 | KCNA5 | c.575C>G (p.Ser192Cys) | |
12 | g.5044722C>T | CA383464714 | KCNA5 | c.575C>T (p.Ser192Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044723C>A | CA478095096 | KCNA5 | c.576C>A (p.Ser192=) | gnomAD v4 |
12 | g.5044723C>G | CA478095097 | KCNA5 | c.576C>G (p.Ser192=) | |
12 | g.5044723C>T | CA478095098 | KCNA5 | c.576C>T (p.Ser192=) | |
12 | g.5044724C>A | CA383464715 | KCNA5 | c.577C>A (p.Leu193Met) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044724C= | CA2013430839 | KCNA5 | c.577C= (p.Leu193=) | |
12 | g.5044724C>G | CA383464716 | KCNA5 | c.577C>G (p.Leu193Val) | |
12 | g.5044724C>T | CA231867458 | KCNA5 | c.577C>T (p.Leu193=) | dbSNP gnomAD v4 COSMIC |
12 | g.5044725T>A | CA383464717 | KCNA5 | c.578T>A (p.Leu193Gln) | gnomAD v4 |
12 | g.5044725T>C | CA383464718 | KCNA5 | c.578T>C (p.Leu193Pro) | |
12 | g.5044725T>G | CA383464719 | KCNA5 | c.578T>G (p.Leu193Arg) | |
12 | g.5044726G>A | CA478095100 | KCNA5 | c.579G>A (p.Leu193=) | |
12 | g.5044726G>C | CA478095101 | KCNA5 | c.579G>C (p.Leu193=) | |
12 | g.5044726G>T | CA478095099 | KCNA5 | c.579G>T (p.Leu193=) | |
12 | g.5044727G>A | CA383464720 | KCNA5 | c.580G>A (p.Asp194Asn) | |
12 | g.5044727G>C | CA383464721 | KCNA5 | c.580G>C (p.Asp194His) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044727G= | CA2013430840 | KCNA5 | c.580G= (p.Asp194=) | |
12 | g.5044727G>T | CA383464722 | KCNA5 | c.580G>T (p.Asp194Tyr) |