Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70175608A= | CA2272996620 | KCNJ2 | c.569A= (p.Asn190=) | |
17 | g.70175608A>C | CA400861049 | KCNJ2 | c.569A>C (p.Asn190Thr) | |
17 | g.70175608A>G | CA400861047 | KCNJ2 | c.569A>G (p.Asn190Ser) | |
17 | g.70175608A>T | CA400861045 | KCNJ2 | c.569A>T (p.Asn190Ile) | ClinVar dbSNP |
17 | g.70175609C>A | CA400861051 | KCNJ2 | c.570C>A (p.Asn190Lys) | |
17 | g.70175609C= | CA2272996621 | KCNJ2 | c.570C= (p.Asn190=) | |
17 | g.70175609C>G | CA400861053 | KCNJ2 | c.570C>G (p.Asn190Lys) | |
17 | g.70175609C>T | CA8738744 | KCNJ2 | c.570C>T (p.Asn190=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175610G>A | CA400861056 | KCNJ2 | c.571G>A (p.Glu191Lys) | gnomAD v4 |
17 | g.70175610G>C | CA400861058 | KCNJ2 | c.571G>C (p.Glu191Gln) | |
17 | g.70175610G>T | CA400861060 | KCNJ2 | c.571G>T (p.Glu191Ter) | |
17 | g.70175611A>C | CA400861066 | KCNJ2 | c.572A>C (p.Glu191Ala) | |
17 | g.70175611A>G | CA400861062 | KCNJ2 | c.572A>G (p.Glu191Gly) | |
17 | g.70175611A>T | CA400861065 | KCNJ2 | c.572A>T (p.Glu191Val) | |
17 | g.70175612G>A | CA501700567 | KCNJ2 | c.573G>A (p.Glu191=) | |
17 | g.70175612G>C | CA400861069 | KCNJ2 | c.573G>C (p.Glu191Asp) | |
17 | g.70175612G>T | CA400861071 | KCNJ2 | c.573G>T (p.Glu191Asp) | |
17 | g.70175613A= | CA2272996622 | KCNJ2 | c.574A= (p.Thr192=) | |
17 | g.70175613A>C | CA400861073 | KCNJ2 | c.574A>C (p.Thr192Pro) | |
17 | g.70175613A>G | CA329687 | KCNJ2 | c.574A>G (p.Thr192Ala) | ClinVar dbSNP |
17 | g.70175613A>T | CA400861077 | KCNJ2 | c.574A>T (p.Thr192Ser) | |
17 | g.70175614C>A | CA400861083 | KCNJ2 | c.575C>A (p.Thr192Asn) | |
17 | g.70175614C= | CA2272996623 | KCNJ2 | c.575C= (p.Thr192=) | |
17 | g.70175614C>G | CA400861079 | KCNJ2 | c.575C>G (p.Thr192Ser) | |
17 | g.70175614C>T | CA329690 | KCNJ2 | c.575C>T (p.Thr192Ile) | ClinVar dbSNP |
17 | g.70175615T>A | CA501700576 | KCNJ2 | c.576T>A (p.Thr192=) | |
17 | g.70175615T>C | CA501700577 | KCNJ2 | c.576T>C (p.Thr192=) | |
17 | g.70175615T>G | CA501700578 | KCNJ2 | c.576T>G (p.Thr192=) | |
17 | g.70175616C>A | CA400861086 | KCNJ2 | c.577C>A (p.Leu193Ile) | |
17 | g.70175616C>G | CA400861087 | KCNJ2 | c.577C>G (p.Leu193Val) | |
17 | g.70175616C>T | CA400861089 | KCNJ2 | c.577C>T (p.Leu193Phe) | |
17 | g.70175617T>A | CA400861091 | KCNJ2 | c.578T>A (p.Leu193His) | ClinVar dbSNP |
17 | g.70175617T>C | CA400861093 | KCNJ2 | c.578T>C (p.Leu193Pro) | ClinVar dbSNP |
17 | g.70175617T>G | CA400861095 | KCNJ2 | c.578T>G (p.Leu193Arg) | ClinVar |
17 | g.70175617T= | CA2272996624 | KCNJ2 | c.578T= (p.Leu193=) | |
17 | g.70175618T>A | CA501700583 | KCNJ2 | c.579T>A (p.Leu193=) | gnomAD v4 |
17 | g.70175618T>C | CA501700584 | KCNJ2 | c.579T>C (p.Leu193=) | dbSNP |
17 | g.70175618T>G | CA8738745 | KCNJ2 | c.579T>G (p.Leu193=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175618T= | CA2272996625 | KCNJ2 | c.579T= (p.Leu193=) | |
17 | g.70175619G>A | CA400861099 | KCNJ2 | c.580G>A (p.Val194Ile) | |
17 | g.70175619G>C | CA400861101 | KCNJ2 | c.580G>C (p.Val194Leu) | |
17 | g.70175619G>T | CA400861103 | KCNJ2 | c.580G>T (p.Val194Phe) | ClinVar |
17 | g.70175620T>A | CA400861105 | KCNJ2 | c.581T>A (p.Val194Asp) | |
17 | g.70175620T>C | CA400861107 | KCNJ2 | c.581T>C (p.Val194Ala) | |
17 | g.70175620T>G | CA400861110 | KCNJ2 | c.581T>G (p.Val194Gly) | |
17 | g.70175621C>A | CA501700591 | KCNJ2 | c.582C>A (p.Val194=) | |
17 | g.70175621C= | CA2272996626 | KCNJ2 | c.582C= (p.Val194=) | |
17 | g.70175621C>G | CA501700593 | KCNJ2 | c.582C>G (p.Val194=) | |
17 | g.70175621C>T | CA501700595 | KCNJ2 | c.582C>T (p.Val194=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175622T>A | CA400861112 | KCNJ2 | c.583T>A (p.Phe195Ile) |