| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.46312578dup | CA2906723 | GABRA2 | c.399dup (p.Ser134IlefsTer5) c.399dup (p.Ser134IlefsTer?) c.*130dup (n.*130dup) c.147dup (p.Ser50IlefsTer5) c.234dup (p.Ser79IlefsTer5) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.46312578del | CA439237356 | GABRA2 | c.399del (p.Lys133AsnfsTer3) c.*130del (n.*130del) c.147del (p.Lys49AsnfsTer3) c.234del (p.Lys78AsnfsTer3) | gnomAD v4 COSMIC COSMIC |
| 4 | g.46312576T>A | CA356799942 | GABRA2 | c.396A>T (p.Lys132Asn) c.*127A>T (n.*127A>T) c.144A>T (p.Lys48Asn) c.231A>T (p.Lys77Asn) | dbSNP COSMIC COSMIC |
| 4 | g.46312576T>C | CA2906724 | GABRA2 | c.396A>G (p.Lys132=) c.*127A>G (n.*127A>G) c.144A>G (p.Lys48=) c.231A>G (p.Lys77=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.46312576T>G | CA356799943 | GABRA2 | c.396A>C (p.Lys132Asn) c.*127A>C (n.*127A>C) c.144A>C (p.Lys48Asn) c.231A>C (p.Lys77Asn) | |
| 4 | g.46312576T= | CA1454779733 | GABRA2 | c.396A= (p.Lys132=) c.*127A= (n.*127A=) c.144A= (p.Lys48=) c.231A= (p.Lys77=) | |
| 4 | g.46312576_46312580del | CA1061893815 | GABRA2 | c.392_396del (p.Gly131GlufsTer6) c.392_396del (p.Gly131GlufsTer?) c.*123_*127del (n.*123_*127del) c.140_144del (p.Gly47GlufsTer6) c.227_231del (p.Gly76GlufsTer6) | gnomAD v3 gnomAD v4 |
| 4 | g.46312576_46312587del | CA2670518673 | GABRA2 | c.385_396del (p.His129_Lys132del) c.*116_*127del (n.*116_*127del) c.133_144del (p.His45_Lys48del) c.220_231del (p.His74_Lys77del) | gnomAD v4 |
| 4 | g.46312577T>A | CA356799946 | GABRA2 | c.395A>T (p.Lys132Ile) c.*126A>T (n.*126A>T) c.143A>T (p.Lys48Ile) c.230A>T (p.Lys77Ile) | |
| 4 | g.46312577T>C | CA356799945 | GABRA2 | c.395A>G (p.Lys132Arg) c.*126A>G (n.*126A>G) c.143A>G (p.Lys48Arg) c.230A>G (p.Lys77Arg) | gnomAD v4 |
| 4 | g.46312577T>G | CA356799944 | GABRA2 | c.395A>C (p.Lys132Thr) c.*126A>C (n.*126A>C) c.143A>C (p.Lys48Thr) c.230A>C (p.Lys77Thr) | |
| 4 | g.46312578T>A | CA356799947 | GABRA2 | c.394A>T (p.Lys132Ter) c.*125A>T (n.*125A>T) c.142A>T (p.Lys48Ter) c.229A>T (p.Lys77Ter) | |
| 4 | g.46312578T>C | CA356799948 | GABRA2 | c.394A>G (p.Lys132Glu) c.*125A>G (n.*125A>G) c.142A>G (p.Lys48Glu) c.229A>G (p.Lys77Glu) | ClinVar gnomAD v4 |
| 4 | g.46312578T>G | CA356799949 | GABRA2 | c.394A>C (p.Lys132Gln) c.*125A>C (n.*125A>C) c.142A>C (p.Lys48Gln) c.229A>C (p.Lys77Gln) | |
| 4 | g.46312578_46312587del | CA1061893820 | GABRA2 | c.385_394del (p.His129LysfsTer4) c.*116_*125del (n.*116_*125del) c.133_142del (p.His45LysfsTer4) c.220_229del (p.His74LysfsTer4) | gnomAD v3 gnomAD v4 |
| 4 | g.46312579C>A | CA439237358 | GABRA2 | c.393G>T (p.Gly131=) c.*124G>T (n.*124G>T) c.141G>T (p.Gly47=) c.228G>T (p.Gly76=) | gnomAD v4 |
| 4 | g.46312579C= | CA1454779734 | GABRA2 | c.393G= (p.Gly131=) c.*124G= (n.*124G=) c.141G= (p.Gly47=) c.228G= (p.Gly76=) | |
| 4 | g.46312579C>G | CA439237359 | GABRA2 | c.393G>C (p.Gly131=) c.*124G>C (n.*124G>C) c.141G>C (p.Gly47=) c.228G>C (p.Gly76=) | |
| 4 | g.46312579C>T | CA2906725 | GABRA2 | c.393G>A (p.Gly131=) c.*124G>A (n.*124G>A) c.141G>A (p.Gly47=) c.228G>A (p.Gly76=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 4 | g.46312579_46312587del | CA2670518674 | GABRA2 | c.385_393del (p.His129_Gly131del) c.*116_*124del (n.*116_*124del) c.133_141del (p.His45_Gly47del) c.220_228del (p.His74_Gly76del) | gnomAD v4 |
| 4 | g.46312580C>A | CA356799950 | GABRA2 | c.392G>T (p.Gly131Val) c.*123G>T (n.*123G>T) c.140G>T (p.Gly47Val) c.227G>T (p.Gly76Val) | gnomAD v4 COSMIC |
| 4 | g.46312580C>G | CA356799951 | GABRA2 | c.392G>C (p.Gly131Ala) c.*123G>C (n.*123G>C) c.140G>C (p.Gly47Ala) c.227G>C (p.Gly76Ala) | |
| 4 | g.46312580C>T | CA356799952 | GABRA2 | c.392G>A (p.Gly131Glu) c.*123G>A (n.*123G>A) c.140G>A (p.Gly47Glu) c.227G>A (p.Gly76Glu) | gnomAD v4 |
| 4 | g.46312580_46312587del | CA2670518675 | GABRA2 | c.385_392del (p.His129GlufsTer7) c.385_392del (p.His129GlufsTer?) c.*116_*123del (n.*116_*123del) c.133_140del (p.His45GlufsTer7) c.220_227del (p.His74GlufsTer7) | gnomAD v4 |
| 4 | g.46312581C>A | CA356799953 | GABRA2 | c.391G>T (p.Gly131Trp) c.*122G>T (n.*122G>T) c.139G>T (p.Gly47Trp) c.226G>T (p.Gly76Trp) | gnomAD v4 |
| 4 | g.46312581C= | CA1454779735 | GABRA2 | c.391G= (p.Gly131=) c.*122G= (n.*122G=) c.139G= (p.Gly47=) c.226G= (p.Gly76=) | |
| 4 | g.46312581C>G | CA356799954 | GABRA2 | c.391G>C (p.Gly131Arg) c.*122G>C (n.*122G>C) c.139G>C (p.Gly47Arg) c.226G>C (p.Gly76Arg) | |
| 4 | g.46312581C>T | CA356799955 | GABRA2 | c.391G>A (p.Gly131Arg) c.*122G>A (n.*122G>A) c.139G>A (p.Gly47Arg) c.226G>A (p.Gly76Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.46312581_46312582insTAAAAAAAAA | CA1061893823 | GABRA2 | c.390_391insTTTTTTTTTA (p.Gly131PhefsTer11) c.390_391insTTTTTTTTTA (p.Gly131PhefsTer?) c.*121_*122insTTTTTTTTTA (n.*121_*122insTTTTTTTTTA) c.138_139insTTTTTTTTTA (p.Gly47PhefsTer11) c.225_226insTTTTTTTTTA (p.Gly76PhefsTer11) | gnomAD v3 gnomAD v4 |
| 4 | g.46312582A= | CA1454779736 | GABRA2 | c.390T= (p.Asn130=) c.*121T= (n.*121T=) c.138T= (p.Asn46=) c.225T= (p.Asn75=) | |
| 4 | g.46312582A>C | CA356799956 | GABRA2 | c.390T>G (p.Asn130Lys) c.*121T>G (n.*121T>G) c.138T>G (p.Asn46Lys) c.225T>G (p.Asn75Lys) | |
| 4 | g.46312582A>G | CA439237360 | GABRA2 | c.390T>C (p.Asn130=) c.*121T>C (n.*121T>C) c.138T>C (p.Asn46=) c.225T>C (p.Asn75=) | ClinVar dbSNP gnomAD v4 |
| 4 | g.46312582A>T | CA356799957 | GABRA2 | c.390T>A (p.Asn130Lys) c.*121T>A (n.*121T>A) c.138T>A (p.Asn46Lys) c.225T>A (p.Asn75Lys) | |
| 4 | g.46312583T>A | CA356799959 | GABRA2 | c.389A>T (p.Asn130Ile) c.*120A>T (n.*120A>T) c.137A>T (p.Asn46Ile) c.224A>T (p.Asn75Ile) | gnomAD v4 |
| 4 | g.46312583T>C | CA356799960 | GABRA2 | c.389A>G (p.Asn130Ser) c.*120A>G (n.*120A>G) c.137A>G (p.Asn46Ser) c.224A>G (p.Asn75Ser) | gnomAD v4 |
| 4 | g.46312583T>G | CA356799958 | GABRA2 | c.389A>C (p.Asn130Thr) c.*120A>C (n.*120A>C) c.137A>C (p.Asn46Thr) c.224A>C (p.Asn75Thr) | COSMIC COSMIC |
| 4 | g.46312583_46312587del | CA1061893831 | GABRA2 | c.385_389del (p.His129TrpfsTer8) c.385_389del (p.His129TrpfsTer?) c.*116_*120del (n.*116_*120del) c.133_137del (p.His45TrpfsTer8) c.220_224del (p.His74TrpfsTer8) | gnomAD v3 gnomAD v4 |
| 4 | g.46312584T>A | CA356799961 | GABRA2 | c.388A>T (p.Asn130Tyr) c.*119A>T (n.*119A>T) c.136A>T (p.Asn46Tyr) c.223A>T (p.Asn75Tyr) | |
| 4 | g.46312584T>C | CA356799962 | GABRA2 | c.388A>G (p.Asn130Asp) c.*119A>G (n.*119A>G) c.136A>G (p.Asn46Asp) c.223A>G (p.Asn75Asp) | |
| 4 | g.46312584T>G | CA356799963 | GABRA2 | c.388A>C (p.Asn130His) c.*119A>C (n.*119A>C) c.136A>C (p.Asn46His) c.223A>C (p.Asn75His) | gnomAD v4 |
| 4 | g.46312586_46312587del | CA2670518676 | GABRA2 | c.387_388del (p.His129GlnfsTer9) c.387_388del (p.His129GlnfsTer?) c.*118_*119del (n.*118_*119del) c.135_136del (p.His45GlnfsTer9) c.222_223del (p.His74GlnfsTer9) | gnomAD v4 |
| 4 | g.46312585G>A | CA439237361 | GABRA2 | c.387C>T (p.His129=) c.*118C>T (n.*118C>T) c.135C>T (p.His45=) c.222C>T (p.His74=) | gnomAD v4 |
| 4 | g.46312585G>C | CA356799964 | GABRA2 | c.387C>G (p.His129Gln) c.*118C>G (n.*118C>G) c.135C>G (p.His45Gln) c.222C>G (p.His74Gln) | |
| 4 | g.46312585G>T | CA356799965 | GABRA2 | c.387C>A (p.His129Gln) c.*118C>A (n.*118C>A) c.135C>A (p.His45Gln) c.222C>A (p.His74Gln) | |
| 4 | g.46312586T>A | CA356799968 | GABRA2 | c.386A>T (p.His129Leu) c.*117A>T (n.*117A>T) c.134A>T (p.His45Leu) c.221A>T (p.His74Leu) | |
| 4 | g.46312586T>C | CA356799966 | GABRA2 | c.386A>G (p.His129Arg) c.*117A>G (n.*117A>G) c.134A>G (p.His45Arg) c.221A>G (p.His74Arg) | |
| 4 | g.46312586T>G | CA356799967 | GABRA2 | c.386A>C (p.His129Pro) c.*117A>C (n.*117A>C) c.134A>C (p.His45Pro) c.221A>C (p.His74Pro) | gnomAD v4 |
| 4 | g.46312587G>A | CA97086374 | GABRA2 | c.385C>T (p.His129Tyr) c.*116C>T (n.*116C>T) c.133C>T (p.His45Tyr) c.220C>T (p.His74Tyr) | dbSNP gnomAD v4 |
| 4 | g.46312587G>C | CA356799969 | GABRA2 | c.385C>G (p.His129Asp) c.*116C>G (n.*116C>G) c.133C>G (p.His45Asp) c.220C>G (p.His74Asp) | |
| 4 | g.46312587G= | CA1454779737 | GABRA2 | c.385C= (p.His129=) c.*116C= (n.*116C=) c.133C= (p.His45=) c.220C= (p.His74=) |