Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
17 | g.70175075C>A | CA501700113 | KCNJ2 | c.36C>A (p.Val12=) | |
17 | g.70175075C= | CA2272996418 | KCNJ2 | c.36C= (p.Val12=) | |
17 | g.70175075C>G | CA501700114 | KCNJ2 | c.36C>G (p.Val12=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175075C>T | CA501700115 | KCNJ2 | c.36C>T (p.Val12=) | gnomAD v4 |
17 | g.70175076T>A | CA400859717 | KCNJ2 | c.37T>A (p.Ser13Thr) | |
17 | g.70175076T>C | CA400859718 | KCNJ2 | c.37T>C (p.Ser13Pro) | |
17 | g.70175076T>G | CA400859719 | KCNJ2 | c.37T>G (p.Ser13Ala) | |
17 | g.70175077C>A | CA400859721 | KCNJ2 | c.38C>A (p.Ser13Tyr) | |
17 | g.70175077C>G | CA400859722 | KCNJ2 | c.38C>G (p.Ser13Cys) | |
17 | g.70175077C>T | CA400859720 | KCNJ2 | c.38C>T (p.Ser13Phe) | |
17 | g.70175078T>A | CA501700118 | KCNJ2 | c.39T>A (p.Ser13=) | |
17 | g.70175078T>C | CA501700119 | KCNJ2 | c.39T>C (p.Ser13=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175078T>G | CA501700120 | KCNJ2 | c.39T>G (p.Ser13=) | |
17 | g.70175078T= | CA2272996419 | KCNJ2 | c.39T= (p.Ser13=) | |
17 | g.70175079T>A | CA400859723 | KCNJ2 | c.40T>A (p.Ser14Thr) | |
17 | g.70175079T>C | CA400859725 | KCNJ2 | c.40T>C (p.Ser14Pro) | |
17 | g.70175079T>G | CA400859724 | KCNJ2 | c.40T>G (p.Ser14Ala) | |
17 | g.70175080C>A | CA400859726 | KCNJ2 | c.41C>A (p.Ser14Ter) | |
17 | g.70175080C>G | CA400859727 | KCNJ2 | c.41C>G (p.Ser14Ter) | |
17 | g.70175080C>T | CA400859728 | KCNJ2 | c.41C>T (p.Ser14Leu) | gnomAD v4 COSMIC |
17 | g.70175081A>C | CA501700124 | KCNJ2 | c.42A>C (p.Ser14=) | |
17 | g.70175081A>G | CA501700125 | KCNJ2 | c.42A>G (p.Ser14=) | ClinVar dbSNP gnomAD v4 |
17 | g.70175081A>T | CA501700126 | KCNJ2 | c.42A>T (p.Ser14=) | |
17 | g.70175087_70175089del | CA2576374381 | KCNJ2 | c.48_50del (p.Glu16del) | |
17 | g.70175082G>A | CA400859729 | KCNJ2 | c.43G>A (p.Glu15Lys) | |
17 | g.70175082G>C | CA400859730 | KCNJ2 | c.43G>C (p.Glu15Gln) | |
17 | g.70175082G>T | CA400859731 | KCNJ2 | c.43G>T (p.Glu15Ter) | COSMIC |
17 | g.70175083A>C | CA400859732 | KCNJ2 | c.44A>C (p.Glu15Ala) | |
17 | g.70175083A>G | CA400859733 | KCNJ2 | c.44A>G (p.Glu15Gly) | |
17 | g.70175083A>T | CA400859734 | KCNJ2 | c.44A>T (p.Glu15Val) | |
17 | g.70175084A= | CA2272996420 | KCNJ2 | c.45A= (p.Glu15=) | |
17 | g.70175084A>C | CA400859735 | KCNJ2 | c.45A>C (p.Glu15Asp) | |
17 | g.70175084A>G | CA501700130 | KCNJ2 | c.45A>G (p.Glu15=) | dbSNP |
17 | g.70175084A>T | CA400859736 | KCNJ2 | c.45A>T (p.Glu15Asp) | COSMIC |
17 | g.70175085G>A | CA400859739 | KCNJ2 | c.46G>A (p.Glu16Lys) | COSMIC |
17 | g.70175085G>C | CA400859737 | KCNJ2 | c.46G>C (p.Glu16Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175085G= | CA2272996421 | KCNJ2 | c.46G= (p.Glu16=) | |
17 | g.70175085G>T | CA400859738 | KCNJ2 | c.46G>T (p.Glu16Ter) | |
17 | g.70175086A= | CA2272996422 | KCNJ2 | c.47A= (p.Glu16=) | |
17 | g.70175086A>C | CA400859740 | KCNJ2 | c.47A>C (p.Glu16Ala) | |
17 | g.70175086A>G | CA8738683 | KCNJ2 | c.47A>G (p.Glu16Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175086A>T | CA400859741 | KCNJ2 | c.47A>T (p.Glu16Val) | |
17 | g.70175087A= | CA2272996423 | KCNJ2 | c.48A= (p.Glu16=) | |
17 | g.70175087A>C | CA400859742 | KCNJ2 | c.48A>C (p.Glu16Asp) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175087A>G | CA501700134 | KCNJ2 | c.48A>G (p.Glu16=) | ClinVar dbSNP gnomAD v4 |
17 | g.70175087A>T | CA400859743 | KCNJ2 | c.48A>T (p.Glu16Asp) | |
17 | g.70175088G>A | CA400859744 | KCNJ2 | c.49G>A (p.Asp17Asn) | ClinVar dbSNP |
17 | g.70175088G>C | CA400859745 | KCNJ2 | c.49G>C (p.Asp17His) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175088G= | CA2272996424 | KCNJ2 | c.49G= (p.Asp17=) |