Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
17 | g.70175240G>A | CA501700335 | KCNJ2 | c.201G>A (p.Arg67=) | |
17 | g.70175240G>C | CA501700336 | KCNJ2 | c.201G>C (p.Arg67=) | |
17 | g.70175240G>T | CA501700337 | KCNJ2 | c.201G>T (p.Arg67=) | |
17 | g.70175241T>A | CA400860096 | KCNJ2 | c.202T>A (p.Tyr68Asn) | |
17 | g.70175241T>C | CA400860095 | KCNJ2 | c.202T>C (p.Tyr68His) | |
17 | g.70175241T>G | CA329639 | KCNJ2 | c.202T>G (p.Tyr68Asp) | ClinVar dbSNP |
17 | g.70175241T= | CA2272996483 | KCNJ2 | c.202T= (p.Tyr68=) | |
17 | g.70175242A>C | CA400860097 | KCNJ2 | c.203A>C (p.Tyr68Ser) | |
17 | g.70175242A>G | CA400860098 | KCNJ2 | c.203A>G (p.Tyr68Cys) | ClinVar dbSNP COSMIC |
17 | g.70175242A>T | CA400860099 | KCNJ2 | c.203A>T (p.Tyr68Phe) | |
17 | g.70175243C>A | CA400860100 | KCNJ2 | c.204C>A (p.Tyr68Ter) | COSMIC |
17 | g.70175243C>G | CA400860101 | KCNJ2 | c.204C>G (p.Tyr68Ter) | |
17 | g.70175243C>T | CA501700338 | KCNJ2 | c.204C>T (p.Tyr68=) | gnomAD v4 |
17 | g.70175244C>A | CA400860102 | KCNJ2 | c.205C>A (p.Leu69Ile) | |
17 | g.70175244C>G | CA400860103 | KCNJ2 | c.205C>G (p.Leu69Val) | |
17 | g.70175244C>T | CA400860104 | KCNJ2 | c.205C>T (p.Leu69Phe) | ClinVar |
17 | g.70175245T>A | CA400860105 | KCNJ2 | c.206T>A (p.Leu69His) | |
17 | g.70175245T>C | CA400860106 | KCNJ2 | c.206T>C (p.Leu69Pro) | |
17 | g.70175245T>G | CA400860107 | KCNJ2 | c.206T>G (p.Leu69Arg) | |
17 | g.70175246C>A | CA501700339 | KCNJ2 | c.207C>A (p.Leu69=) | |
17 | g.70175246C= | CA2272996484 | KCNJ2 | c.207C= (p.Leu69=) | |
17 | g.70175246C>G | CA293702905 | KCNJ2 | c.207C>G (p.Leu69=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175246C>T | CA501700340 | KCNJ2 | c.207C>T (p.Leu69=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175247G>A | CA302020 | KCNJ2 | c.208G>A (p.Ala70Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175247G>C | CA400860108 | KCNJ2 | c.208G>C (p.Ala70Pro) | dbSNP |
17 | g.70175247G= | CA2272996485 | KCNJ2 | c.208G= (p.Ala70=) | |
17 | g.70175247G>T | CA8738699 | KCNJ2 | c.208G>T (p.Ala70Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175248C>A | CA400860109 | KCNJ2 | c.209C>A (p.Ala70Glu) | |
17 | g.70175248C>G | CA400860110 | KCNJ2 | c.209C>G (p.Ala70Gly) | |
17 | g.70175248C>T | CA400860111 | KCNJ2 | c.209C>T (p.Ala70Val) | |
17 | g.70175249A>C | CA501700342 | KCNJ2 | c.210A>C (p.Ala70=) | |
17 | g.70175249A>G | CA501700344 | KCNJ2 | c.210A>G (p.Ala70=) | |
17 | g.70175249A>T | CA501700346 | KCNJ2 | c.210A>T (p.Ala70=) | |
17 | g.70175250G>A | CA329642 | KCNJ2 | c.211G>A (p.Asp71Asn) | ClinVar dbSNP |
17 | g.70175250G>C | CA085820 | KCNJ2 | c.211G>C (p.Asp71His) | ClinVar dbSNP |
17 | g.70175250G= | CA2272996486 | KCNJ2 | c.211G= (p.Asp71=) | |
17 | g.70175250G>T | CA400860112 | KCNJ2 | c.211G>T (p.Asp71Tyr) | |
17 | g.70175251A= | CA2272996487 | KCNJ2 | c.212A= (p.Asp71=) | |
17 | g.70175251A>C | CA400860113 | KCNJ2 | c.212A>C (p.Asp71Ala) | |
17 | g.70175251A>G | CA400860114 | KCNJ2 | c.212A>G (p.Asp71Gly) | |
17 | g.70175251A>T | CA254592 | KCNJ2 | c.212A>T (p.Asp71Val) | ClinVar dbSNP |
17 | g.70175252C>A | CA400860115 | KCNJ2 | c.213C>A (p.Asp71Glu) | |
17 | g.70175252C= | CA2272996488 | KCNJ2 | c.213C= (p.Asp71=) | |
17 | g.70175252C>G | CA400860116 | KCNJ2 | c.213C>G (p.Asp71Glu) | |
17 | g.70175252C>T | CA8738700 | KCNJ2 | c.213C>T (p.Asp71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175253A= | CA2272996489 | KCNJ2 | c.214A= (p.Ile72=) | |
17 | g.70175253A>C | CA400860119 | KCNJ2 | c.214A>C (p.Ile72Leu) | |
17 | g.70175253A>G | CA400860117 | KCNJ2 | c.214A>G (p.Ile72Val) | |
17 | g.70175253A>T | CA400860118 | KCNJ2 | c.214A>T (p.Ile72Phe) | dbSNP |