| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 17 | g.70175622T>C | CA400861115 | KCNJ2 | c.583T>C (p.Phe195Leu) | |
| 17 | g.70175622T>G | CA400861114 | KCNJ2 | c.583T>G (p.Phe195Val) | |
| 17 | g.70175623T>A | CA400861119 | KCNJ2 | c.584T>A (p.Phe195Tyr) | |
| 17 | g.70175623T>C | CA400861121 | KCNJ2 | c.584T>C (p.Phe195Ser) | |
| 17 | g.70175623T>G | CA400861123 | KCNJ2 | c.584T>G (p.Phe195Cys) | |
| 17 | g.70175624C>A | CA400861124 | KCNJ2 | c.585C>A (p.Phe195Leu) | |
| 17 | g.70175624C= | CA2272996627 | KCNJ2 | c.585C= (p.Phe195=) | |
| 17 | g.70175624C>G | CA400861126 | KCNJ2 | c.585C>G (p.Phe195Leu) | |
| 17 | g.70175624C>T | CA8738746 | KCNJ2 | c.585C>T (p.Phe195=) | ClinVar dbSNP ExAC gnomAD v2 |
| 17 | g.70175625A>C | CA400861134 | KCNJ2 | c.586A>C (p.Ser196Arg) | ClinVar |
| 17 | g.70175625A>G | CA400861129 | KCNJ2 | c.586A>G (p.Ser196Gly) | |
| 17 | g.70175625A>T | CA400861131 | KCNJ2 | c.586A>T (p.Ser196Cys) | |
| 17 | g.70175626G>A | CA400861144 | KCNJ2 | c.587G>A (p.Ser196Asn) | |
| 17 | g.70175626G>C | CA400861145 | KCNJ2 | c.587G>C (p.Ser196Thr) | |
| 17 | g.70175626G>T | CA400861147 | KCNJ2 | c.587G>T (p.Ser196Ile) | |
| 17 | g.70175627T>A | CA400861150 | KCNJ2 | c.588T>A (p.Ser196Arg) | |
| 17 | g.70175627T>C | CA501700604 | KCNJ2 | c.588T>C (p.Ser196=) | |
| 17 | g.70175627T>G | CA400861152 | KCNJ2 | c.588T>G (p.Ser196Arg) | |
| 17 | g.70175628C>A | CA400861154 | KCNJ2 | c.589C>A (p.His197Asn) | |
| 17 | g.70175628C>G | CA400861157 | KCNJ2 | c.589C>G (p.His197Asp) | |
| 17 | g.70175628C>T | CA400861155 | KCNJ2 | c.589C>T (p.His197Tyr) |