UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.161294124A>C | CA362172842 | GABRB2 | c.1496T>G (p.Phe499Cys) c.*841T>G (n.*841T>G) c.1382T>G (p.Phe461Cys) c.1130T>G (p.Phe377Cys) c.902T>G (p.Phe301Cys) c.1193T>G (p.Phe398Cys) c.746T>G (p.Phe249Cys) | |
| 5 | g.161294124A>G | CA362172843 | GABRB2 | c.1496T>C (p.Phe499Ser) c.*841T>C (n.*841T>C) c.1382T>C (p.Phe461Ser) c.1130T>C (p.Phe377Ser) c.902T>C (p.Phe301Ser) c.1193T>C (p.Phe398Ser) c.746T>C (p.Phe249Ser) | |
| 5 | g.161294124A>T | CA362172844 | GABRB2 | c.1496T>A (p.Phe499Tyr) c.*841T>A (n.*841T>A) c.1382T>A (p.Phe461Tyr) c.1130T>A (p.Phe377Tyr) c.902T>A (p.Phe301Tyr) c.1193T>A (p.Phe398Tyr) c.746T>A (p.Phe249Tyr) | |
| 5 | g.161294125A>C | CA362172845 | GABRB2 | c.1495T>G (p.Phe499Val) c.*840T>G (n.*840T>G) c.1381T>G (p.Phe461Val) c.1129T>G (p.Phe377Val) c.901T>G (p.Phe301Val) c.1192T>G (p.Phe398Val) c.745T>G (p.Phe249Val) | |
| 5 | g.161294125A>G | CA362172846 | GABRB2 | c.1495T>C (p.Phe499Leu) c.*840T>C (n.*840T>C) c.1381T>C (p.Phe461Leu) c.1129T>C (p.Phe377Leu) c.901T>C (p.Phe301Leu) c.1192T>C (p.Phe398Leu) c.745T>C (p.Phe249Leu) | |
| 5 | g.161294125A>T | CA362172847 | GABRB2 | c.1495T>A (p.Phe499Ile) c.*840T>A (n.*840T>A) c.1381T>A (p.Phe461Ile) c.1129T>A (p.Phe377Ile) c.901T>A (p.Phe301Ile) c.1192T>A (p.Phe398Ile) c.745T>A (p.Phe249Ile) | |
| 5 | g.161294126A>C | CA447604592 | GABRB2 | c.1494T>G (p.Val498=) c.*839T>G (n.*839T>G) c.1380T>G (p.Val460=) c.1128T>G (p.Val376=) c.900T>G (p.Val300=) c.1191T>G (p.Val397=) c.744T>G (p.Val248=) | |
| 5 | g.161294126A>G | CA447604594 | GABRB2 | c.1494T>C (p.Val498=) c.*839T>C (n.*839T>C) c.1380T>C (p.Val460=) c.1128T>C (p.Val376=) c.900T>C (p.Val300=) c.1191T>C (p.Val397=) c.744T>C (p.Val248=) | |
| 5 | g.161294126A>T | CA447604596 | GABRB2 | c.1494T>A (p.Val498=) c.*839T>A (n.*839T>A) c.1380T>A (p.Val460=) c.1128T>A (p.Val376=) c.900T>A (p.Val300=) c.1191T>A (p.Val397=) c.744T>A (p.Val248=) | |
| 5 | g.161294127A= | CA1595966629 | GABRB2 | c.1493T= (p.Val498=) c.*838T= (n.*838T=) c.1379T= (p.Val460=) c.1127T= (p.Val376=) c.899T= (p.Val300=) c.1190T= (p.Val397=) c.743T= (p.Val248=) | |
| 5 | g.161294127A>C | CA362172850 | GABRB2 | c.1493T>G (p.Val498Gly) c.*838T>G (n.*838T>G) c.1379T>G (p.Val460Gly) c.1127T>G (p.Val376Gly) c.899T>G (p.Val300Gly) c.1190T>G (p.Val397Gly) c.743T>G (p.Val248Gly) | |
| 5 | g.161294127A>G | CA362172852 | GABRB2 | c.1493T>C (p.Val498Ala) c.*838T>C (n.*838T>C) c.1379T>C (p.Val460Ala) c.1127T>C (p.Val376Ala) c.899T>C (p.Val300Ala) c.1190T>C (p.Val397Ala) c.743T>C (p.Val248Ala) | |
| 5 | g.161294127A>T | CA362172854 | GABRB2 | c.1493T>A (p.Val498Asp) c.*838T>A (n.*838T>A) c.1379T>A (p.Val460Asp) c.1127T>A (p.Val376Asp) c.899T>A (p.Val300Asp) c.1190T>A (p.Val397Asp) c.743T>A (p.Val248Asp) | dbSNP gnomAD v2 |
| 5 | g.161294128C>A | CA3543313 | GABRB2 | c.1492G>T (p.Val498Phe) c.*837G>T (n.*837G>T) c.1378G>T (p.Val460Phe) c.1126G>T (p.Val376Phe) c.898G>T (p.Val300Phe) c.1189G>T (p.Val397Phe) c.742G>T (p.Val248Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161294128C= | CA1595966635 | GABRB2 | c.1492G= (p.Val498=) c.*837G= (n.*837G=) c.1378G= (p.Val460=) c.1126G= (p.Val376=) c.898G= (p.Val300=) c.1189G= (p.Val397=) c.742G= (p.Val248=) | |
| 5 | g.161294128C>G | CA362172867 | GABRB2 | c.1492G>C (p.Val498Leu) c.*837G>C (n.*837G>C) c.1378G>C (p.Val460Leu) c.1126G>C (p.Val376Leu) c.898G>C (p.Val300Leu) c.1189G>C (p.Val397Leu) c.742G>C (p.Val248Leu) | |
| 5 | g.161294128C>T | CA362172864 | GABRB2 | c.1492G>A (p.Val498Ile) c.*837G>A (n.*837G>A) c.1378G>A (p.Val460Ile) c.1126G>A (p.Val376Ile) c.898G>A (p.Val300Ile) c.1189G>A (p.Val397Ile) c.742G>A (p.Val248Ile) | dbSNP COSMIC COSMIC |
| 5 | g.161294129C>A | CA447604608 | GABRB2 | c.1491G>T (p.Val497=) c.*836G>T (n.*836G>T) c.1377G>T (p.Val459=) c.1125G>T (p.Val375=) c.897G>T (p.Val299=) c.1188G>T (p.Val396=) c.741G>T (p.Val247=) | |
| 5 | g.161294129C= | CA1595966639 | GABRB2 | c.1491G= (p.Val497=) c.*836G= (n.*836G=) c.1377G= (p.Val459=) c.1125G= (p.Val375=) c.897G= (p.Val299=) c.1188G= (p.Val396=) c.741G= (p.Val247=) | |
| 5 | g.161294129C>G | CA447604606 | GABRB2 | c.1491G>C (p.Val497=) c.*836G>C (n.*836G>C) c.1377G>C (p.Val459=) c.1125G>C (p.Val375=) c.897G>C (p.Val299=) c.1188G>C (p.Val396=) c.741G>C (p.Val247=) | |
| 5 | g.161294129C>T | CA131016120 | GABRB2 | c.1491G>A (p.Val497=) c.*836G>A (n.*836G>A) c.1377G>A (p.Val459=) c.1125G>A (p.Val375=) c.897G>A (p.Val299=) c.1188G>A (p.Val396=) c.741G>A (p.Val247=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.161294130A>C | CA362172871 | GABRB2 | c.1490T>G (p.Val497Gly) c.*835T>G (n.*835T>G) c.1376T>G (p.Val459Gly) c.1124T>G (p.Val375Gly) c.896T>G (p.Val299Gly) c.1187T>G (p.Val396Gly) c.740T>G (p.Val247Gly) | |
| 5 | g.161294130A>G | CA362172870 | GABRB2 | c.1490T>C (p.Val497Ala) c.*835T>C (n.*835T>C) c.1376T>C (p.Val459Ala) c.1124T>C (p.Val375Ala) c.896T>C (p.Val299Ala) c.1187T>C (p.Val396Ala) c.740T>C (p.Val247Ala) | |
| 5 | g.161294130A>T | CA362172872 | GABRB2 | c.1490T>A (p.Val497Glu) c.*835T>A (n.*835T>A) c.1376T>A (p.Val459Glu) c.1124T>A (p.Val375Glu) c.896T>A (p.Val299Glu) c.1187T>A (p.Val396Glu) c.740T>A (p.Val247Glu) | gnomAD v4 |
| 5 | g.161294131C>A | CA362172873 | GABRB2 | c.1489G>T (p.Val497Leu) c.*834G>T (n.*834G>T) c.1375G>T (p.Val459Leu) c.1123G>T (p.Val375Leu) c.895G>T (p.Val299Leu) c.1186G>T (p.Val396Leu) c.739G>T (p.Val247Leu) | |
| 5 | g.161294131C>G | CA362172876 | GABRB2 | c.1489G>C (p.Val497Leu) c.*834G>C (n.*834G>C) c.1375G>C (p.Val459Leu) c.1123G>C (p.Val375Leu) c.895G>C (p.Val299Leu) c.1186G>C (p.Val396Leu) c.739G>C (p.Val247Leu) | |
| 5 | g.161294131C>T | CA362172874 | GABRB2 | c.1489G>A (p.Val497Met) c.*834G>A (n.*834G>A) c.1375G>A (p.Val459Met) c.1123G>A (p.Val375Met) c.895G>A (p.Val299Met) c.1186G>A (p.Val396Met) c.739G>A (p.Val247Met) | |
| 5 | g.161294132T>A | CA447604616 | GABRB2 | c.1488A>T (p.Pro496=) c.*833A>T (n.*833A>T) c.1374A>T (p.Pro458=) c.1122A>T (p.Pro374=) c.894A>T (p.Pro298=) c.1185A>T (p.Pro395=) c.738A>T (p.Pro246=) | |
| 5 | g.161294132T>C | CA447604618 | GABRB2 | c.1488A>G (p.Pro496=) c.*833A>G (n.*833A>G) c.1374A>G (p.Pro458=) c.1122A>G (p.Pro374=) c.894A>G (p.Pro298=) c.1185A>G (p.Pro395=) c.738A>G (p.Pro246=) | gnomAD v4 |
| 5 | g.161294132T>G | CA447604619 | GABRB2 | c.1488A>C (p.Pro496=) c.*833A>C (n.*833A>C) c.1374A>C (p.Pro458=) c.1122A>C (p.Pro374=) c.894A>C (p.Pro298=) c.1185A>C (p.Pro395=) c.738A>C (p.Pro246=) | gnomAD v4 |
| 5 | g.161294133G>A | CA362172878 | GABRB2 | c.1487C>T (p.Pro496Leu) c.*832C>T (n.*832C>T) c.1373C>T (p.Pro458Leu) c.1121C>T (p.Pro374Leu) c.893C>T (p.Pro298Leu) c.1184C>T (p.Pro395Leu) c.737C>T (p.Pro246Leu) | |
| 5 | g.161294133G>C | CA362172880 | GABRB2 | c.1487C>G (p.Pro496Arg) c.*832C>G (n.*832C>G) c.1373C>G (p.Pro458Arg) c.1121C>G (p.Pro374Arg) c.893C>G (p.Pro298Arg) c.1184C>G (p.Pro395Arg) c.737C>G (p.Pro246Arg) | |
| 5 | g.161294133G>T | CA362172879 | GABRB2 | c.1487C>A (p.Pro496Gln) c.*832C>A (n.*832C>A) c.1373C>A (p.Pro458Gln) c.1121C>A (p.Pro374Gln) c.893C>A (p.Pro298Gln) c.1184C>A (p.Pro395Gln) c.737C>A (p.Pro246Gln) | |
| 5 | g.161294134G>A | CA362172881 | GABRB2 | c.1486C>T (p.Pro496Ser) c.*831C>T (n.*831C>T) c.1372C>T (p.Pro458Ser) c.1120C>T (p.Pro374Ser) c.892C>T (p.Pro298Ser) c.1183C>T (p.Pro395Ser) c.736C>T (p.Pro246Ser) | |
| 5 | g.161294134G>C | CA362172883 | GABRB2 | c.1486C>G (p.Pro496Ala) c.*831C>G (n.*831C>G) c.1372C>G (p.Pro458Ala) c.1120C>G (p.Pro374Ala) c.892C>G (p.Pro298Ala) c.1183C>G (p.Pro395Ala) c.736C>G (p.Pro246Ala) | |
| 5 | g.161294134G>T | CA362172884 | GABRB2 | c.1486C>A (p.Pro496Thr) c.*831C>A (n.*831C>A) c.1372C>A (p.Pro458Thr) c.1120C>A (p.Pro374Thr) c.892C>A (p.Pro298Thr) c.1183C>A (p.Pro395Thr) c.736C>A (p.Pro246Thr) | |
| 5 | g.161294134_161294135insAAGCAAGGACTAGATTCCTCCTCAAACCAGTT | CA2511402002 | GABRB2 | c.1485_1486insAACTGGTTTGAGGAGGAATCTAGTCCTTGCTT (p.Pro496AsnfsTer27) c.*830_*831insAACTGGTTTGAGGAGGAATCTAGTCCTTGCTT (n.*830_*831insAACTGGTTTGAGGAGGAATCTAGTCCTTGCTT) c.1371_1372insAACTGGTTTGAGGAGGAATCTAGTCCTTGCTT (p.Pro458AsnfsTer27) c.1119_1120insAACTGGTTTGAGGAGGAATCTAGTCCTTGCTT (p.Pro374AsnfsTer27) c.891_892insAACTGGTTTGAGGAGGAATCTAGTCCTTGCTT (p.Pro298AsnfsTer27) c.1182_1183insAACTGGTTTGAGGAGGAATCTAGTCCTTGCTT (p.Pro395AsnfsTer27) c.735_736insAACTGGTTTGAGGAGGAATCTAGTCCTTGCTT (p.Pro246AsnfsTer27) | |
| 5 | g.161294135G>A | CA447604626 | GABRB2 | c.1485C>T (p.Phe495=) c.*830C>T (n.*830C>T) c.1371C>T (p.Phe457=) c.1119C>T (p.Phe373=) c.891C>T (p.Phe297=) c.1182C>T (p.Phe394=) c.735C>T (p.Phe245=) | gnomAD v4 |
| 5 | g.161294135G>C | CA362172885 | GABRB2 | c.1485C>G (p.Phe495Leu) c.*830C>G (n.*830C>G) c.1371C>G (p.Phe457Leu) c.1119C>G (p.Phe373Leu) c.891C>G (p.Phe297Leu) c.1182C>G (p.Phe394Leu) c.735C>G (p.Phe245Leu) | |
| 5 | g.161294135G>T | CA362172887 | GABRB2 | c.1485C>A (p.Phe495Leu) c.*830C>A (n.*830C>A) c.1371C>A (p.Phe457Leu) c.1119C>A (p.Phe373Leu) c.891C>A (p.Phe297Leu) c.1182C>A (p.Phe394Leu) c.735C>A (p.Phe245Leu) | |
| 5 | g.161294136A>C | CA362172890 | GABRB2 | c.1484T>G (p.Phe495Cys) c.*829T>G (n.*829T>G) c.1370T>G (p.Phe457Cys) c.1118T>G (p.Phe373Cys) c.890T>G (p.Phe297Cys) c.1181T>G (p.Phe394Cys) c.734T>G (p.Phe245Cys) | |
| 5 | g.161294136A>G | CA362172891 | GABRB2 | c.1484T>C (p.Phe495Ser) c.*829T>C (n.*829T>C) c.1370T>C (p.Phe457Ser) c.1118T>C (p.Phe373Ser) c.890T>C (p.Phe297Ser) c.1181T>C (p.Phe394Ser) c.734T>C (p.Phe245Ser) | |
| 5 | g.161294136A>T | CA362172892 | GABRB2 | c.1484T>A (p.Phe495Tyr) c.*829T>A (n.*829T>A) c.1370T>A (p.Phe457Tyr) c.1118T>A (p.Phe373Tyr) c.890T>A (p.Phe297Tyr) c.1181T>A (p.Phe394Tyr) c.734T>A (p.Phe245Tyr) | |
| 5 | g.161294137A>C | CA362172893 | GABRB2 | c.1483T>G (p.Phe495Val) c.*828T>G (n.*828T>G) c.1369T>G (p.Phe457Val) c.1117T>G (p.Phe373Val) c.889T>G (p.Phe297Val) c.1180T>G (p.Phe394Val) c.733T>G (p.Phe245Val) | |
| 5 | g.161294137A>G | CA362172894 | GABRB2 | c.1483T>C (p.Phe495Leu) c.*828T>C (n.*828T>C) c.1369T>C (p.Phe457Leu) c.1117T>C (p.Phe373Leu) c.889T>C (p.Phe297Leu) c.1180T>C (p.Phe394Leu) c.733T>C (p.Phe245Leu) | COSMIC COSMIC |
| 5 | g.161294137A>T | CA362172896 | GABRB2 | c.1483T>A (p.Phe495Ile) c.*828T>A (n.*828T>A) c.1369T>A (p.Phe457Ile) c.1117T>A (p.Phe373Ile) c.889T>A (p.Phe297Ile) c.1180T>A (p.Phe394Ile) c.733T>A (p.Phe245Ile) | |
| 5 | g.161294138G>A | CA447604627 | GABRB2 | c.1482C>T (p.Phe494=) c.*827C>T (n.*827C>T) c.1368C>T (p.Phe456=) c.1116C>T (p.Phe372=) c.888C>T (p.Phe296=) c.1179C>T (p.Phe393=) c.732C>T (p.Phe244=) | COSMIC COSMIC |
| 5 | g.161294138G>C | CA362172899 | GABRB2 | c.1482C>G (p.Phe494Leu) c.*827C>G (n.*827C>G) c.1368C>G (p.Phe456Leu) c.1116C>G (p.Phe372Leu) c.888C>G (p.Phe296Leu) c.1179C>G (p.Phe393Leu) c.732C>G (p.Phe244Leu) | |
| 5 | g.161294138G>T | CA362172898 | GABRB2 | c.1482C>A (p.Phe494Leu) c.*827C>A (n.*827C>A) c.1368C>A (p.Phe456Leu) c.1116C>A (p.Phe372Leu) c.888C>A (p.Phe296Leu) c.1179C>A (p.Phe393Leu) c.732C>A (p.Phe244Leu) | |
| 5 | g.161294139A>C | CA362172901 | GABRB2 | c.1481T>G (p.Phe494Cys) c.*826T>G (n.*826T>G) c.1367T>G (p.Phe456Cys) c.1115T>G (p.Phe372Cys) c.617T>G c.887T>G (p.Phe296Cys) c.1178T>G (p.Phe393Cys) c.731T>G (p.Phe244Cys) | |
| 5 | g.161294139A>G | CA362172904 | GABRB2 | c.1481T>C (p.Phe494Ser) c.*826T>C (n.*826T>C) c.1367T>C (p.Phe456Ser) c.1115T>C (p.Phe372Ser) c.617T>C c.887T>C (p.Phe296Ser) c.1178T>C (p.Phe393Ser) c.731T>C (p.Phe244Ser) | |
| 5 | g.161294139A>T | CA362172906 | GABRB2 | c.1481T>A (p.Phe494Tyr) c.*826T>A (n.*826T>A) c.1367T>A (p.Phe456Tyr) c.1115T>A (p.Phe372Tyr) c.617T>A c.887T>A (p.Phe296Tyr) c.1178T>A (p.Phe393Tyr) c.731T>A (p.Phe244Tyr) | |
| 5 | g.161294140A>C | CA362172909 | GABRB2 | c.1480T>G (p.Phe494Val) c.*825T>G (n.*825T>G) c.1366T>G (p.Phe456Val) c.1114T>G (p.Phe372Val) c.616T>G c.886T>G (p.Phe296Val) c.1177T>G (p.Phe393Val) c.730T>G (p.Phe244Val) | |
| 5 | g.161294140A>G | CA362172911 | GABRB2 | c.1480T>C (p.Phe494Leu) c.*825T>C (n.*825T>C) c.1366T>C (p.Phe456Leu) c.1114T>C (p.Phe372Leu) c.616T>C c.886T>C (p.Phe296Leu) c.1177T>C (p.Phe393Leu) c.730T>C (p.Phe244Leu) | gnomAD v4 |
| 5 | g.161294140A>T | CA362172912 | GABRB2 | c.1480T>A (p.Phe494Ile) c.*825T>A (n.*825T>A) c.1366T>A (p.Phe456Ile) c.1114T>A (p.Phe372Ile) c.616T>A c.886T>A (p.Phe296Ile) c.1177T>A (p.Phe393Ile) c.730T>A (p.Phe244Ile) | |
| 5 | g.161294141T>A | CA3543314 | GABRB2 | c.1479A>T (p.Ile493=) c.*824A>T (n.*824A>T) c.1365A>T (p.Ile455=) c.1113A>T (p.Ile371=) c.615A>T (p.Ile205=) c.885A>T (p.Ile295=) c.1176A>T (p.Ile392=) c.729A>T (p.Ile243=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161294141T>C | CA362172918 | GABRB2 | c.1479A>G (p.Ile493Met) c.*824A>G (n.*824A>G) c.1365A>G (p.Ile455Met) c.1113A>G (p.Ile371Met) c.615A>G (p.Ile205Met) c.885A>G (p.Ile295Met) c.1176A>G (p.Ile392Met) c.729A>G (p.Ile243Met) | |
| 5 | g.161294141T>G | CA447604628 | GABRB2 | c.1479A>C (p.Ile493=) c.*824A>C (n.*824A>C) c.1365A>C (p.Ile455=) c.1113A>C (p.Ile371=) c.615A>C (p.Ile205=) c.885A>C (p.Ile295=) c.1176A>C (p.Ile392=) c.729A>C (p.Ile243=) | |
| 5 | g.161294141T= | CA1595966645 | GABRB2 | c.1479A= (p.Ile493=) c.*824A= (n.*824A=) c.1365A= (p.Ile455=) c.1113A= (p.Ile371=) c.615A= (p.Ile205=) c.885A= (p.Ile295=) c.1176A= (p.Ile392=) c.729A= (p.Ile243=) | |
| 5 | g.161294142A>C | CA362172920 | GABRB2 | c.1478T>G (p.Ile493Arg) c.*823T>G (n.*823T>G) c.1364T>G (p.Ile455Arg) c.1112T>G (p.Ile371Arg) c.614T>G (p.Ile205Arg) c.884T>G (p.Ile295Arg) c.1175T>G (p.Ile392Arg) c.728T>G (p.Ile243Arg) | |
| 5 | g.161294142A>G | CA362172921 | GABRB2 | c.1478T>C (p.Ile493Thr) c.*823T>C (n.*823T>C) c.1364T>C (p.Ile455Thr) c.1112T>C (p.Ile371Thr) c.614T>C (p.Ile205Thr) c.884T>C (p.Ile295Thr) c.1175T>C (p.Ile392Thr) c.728T>C (p.Ile243Thr) | |
| 5 | g.161294142A>T | CA362172923 | GABRB2 | c.1478T>A (p.Ile493Lys) c.*823T>A (n.*823T>A) c.1364T>A (p.Ile455Lys) c.1112T>A (p.Ile371Lys) c.614T>A (p.Ile205Lys) c.884T>A (p.Ile295Lys) c.1175T>A (p.Ile392Lys) c.728T>A (p.Ile243Lys) | |
| 5 | g.161294143T>A | CA362172929 | GABRB2 | c.1477A>T (p.Ile493Leu) c.*822A>T (n.*822A>T) c.1363A>T (p.Ile455Leu) c.1111A>T (p.Ile371Leu) c.613A>T (p.Ile205Leu) c.883A>T (p.Ile295Leu) c.1174A>T (p.Ile392Leu) c.727A>T (p.Ile243Leu) | gnomAD v4 |
| 5 | g.161294143T>C | CA362172927 | GABRB2 | c.1477A>G (p.Ile493Val) c.*822A>G (n.*822A>G) c.1363A>G (p.Ile455Val) c.1111A>G (p.Ile371Val) c.613A>G (p.Ile205Val) c.883A>G (p.Ile295Val) c.1174A>G (p.Ile392Val) c.727A>G (p.Ile243Val) | dbSNP |
| 5 | g.161294143T>G | CA362172925 | GABRB2 | c.1477A>C (p.Ile493Leu) c.*822A>C (n.*822A>C) c.1363A>C (p.Ile455Leu) c.1111A>C (p.Ile371Leu) c.613A>C (p.Ile205Leu) c.883A>C (p.Ile295Leu) c.1174A>C (p.Ile392Leu) c.727A>C (p.Ile243Leu) | |
| 5 | g.161294143T= | CA1595966649 | GABRB2 | c.1477A= (p.Ile493=) c.*822A= (n.*822A=) c.1363A= (p.Ile455=) c.1111A= (p.Ile371=) c.613A= (p.Ile205=) c.883A= (p.Ile295=) c.1174A= (p.Ile392=) c.727A= (p.Ile243=) | |
| 5 | g.161294144G>A | CA447604631 | GABRB2 | c.1476C>T (p.Arg492=) c.*821C>T (n.*821C>T) c.1362C>T (p.Arg454=) c.1110C>T (p.Arg370=) c.612C>T (p.Arg204=) c.882C>T (p.Arg294=) c.1173C>T (p.Arg391=) c.726C>T (p.Arg242=) | dbSNP |
| 5 | g.161294144G>C | CA447604630 | GABRB2 | c.1476C>G (p.Arg492=) c.*821C>G (n.*821C>G) c.1362C>G (p.Arg454=) c.1110C>G (p.Arg370=) c.612C>G (p.Arg204=) c.882C>G (p.Arg294=) c.1173C>G (p.Arg391=) c.726C>G (p.Arg242=) | |
| 5 | g.161294144G= | CA1595966652 | GABRB2 | c.1476C= (p.Arg492=) c.*821C= (n.*821C=) c.1362C= (p.Arg454=) c.1110C= (p.Arg370=) c.612C= (p.Arg204=) c.882C= (p.Arg294=) c.1173C= (p.Arg391=) c.726C= (p.Arg242=) | |
| 5 | g.161294144G>T | CA447604629 | GABRB2 | c.1476C>A (p.Arg492=) c.*821C>A (n.*821C>A) c.1362C>A (p.Arg454=) c.1110C>A (p.Arg370=) c.612C>A (p.Arg204=) c.882C>A (p.Arg294=) c.1173C>A (p.Arg391=) c.726C>A (p.Arg242=) | |
| 5 | g.161294145C>A | CA362172931 | GABRB2 | c.1475G>T (p.Arg492Leu) c.*820G>T (n.*820G>T) c.1361G>T (p.Arg454Leu) c.1109G>T (p.Arg370Leu) c.611G>T (p.Arg204Leu) c.881G>T (p.Arg294Leu) c.1172G>T (p.Arg391Leu) c.725G>T (p.Arg242Leu) | gnomAD v4 |
| 5 | g.161294145C= | CA1595966658 | GABRB2 | c.1475G= (p.Arg492=) c.*820G= (n.*820G=) c.1361G= (p.Arg454=) c.1109G= (p.Arg370=) c.611G= (p.Arg204=) c.881G= (p.Arg294=) c.1172G= (p.Arg391=) c.725G= (p.Arg242=) | |
| 5 | g.161294145C>G | CA362172933 | GABRB2 | c.1475G>C (p.Arg492Pro) c.*820G>C (n.*820G>C) c.1361G>C (p.Arg454Pro) c.1109G>C (p.Arg370Pro) c.611G>C (p.Arg204Pro) c.881G>C (p.Arg294Pro) c.1172G>C (p.Arg391Pro) c.725G>C (p.Arg242Pro) | |
| 5 | g.161294145C>T | CA362172935 | GABRB2 | c.1475G>A (p.Arg492His) c.*820G>A (n.*820G>A) c.1361G>A (p.Arg454His) c.1109G>A (p.Arg370His) c.611G>A (p.Arg204His) c.881G>A (p.Arg294His) c.1172G>A (p.Arg391His) c.725G>A (p.Arg242His) | ClinVar dbSNP gnomAD v4 |
| 5 | g.161294146G>A | CA362172937 | GABRB2 | c.1474C>T (p.Arg492Cys) c.*819C>T (n.*819C>T) c.1360C>T (p.Arg454Cys) c.1108C>T (p.Arg370Cys) c.610C>T (p.Arg204Cys) c.880C>T (p.Arg294Cys) c.1171C>T (p.Arg391Cys) c.724C>T (p.Arg242Cys) | gnomAD v4 COSMIC COSMIC |
| 5 | g.161294146G>C | CA362172938 | GABRB2 | c.1474C>G (p.Arg492Gly) c.*819C>G (n.*819C>G) c.1360C>G (p.Arg454Gly) c.1108C>G (p.Arg370Gly) c.610C>G (p.Arg204Gly) c.880C>G (p.Arg294Gly) c.1171C>G (p.Arg391Gly) c.724C>G (p.Arg242Gly) | |
| 5 | g.161294146G>T | CA362172940 | GABRB2 | c.1474C>A (p.Arg492Ser) c.*819C>A (n.*819C>A) c.1360C>A (p.Arg454Ser) c.1108C>A (p.Arg370Ser) c.610C>A (p.Arg204Ser) c.880C>A (p.Arg294Ser) c.1171C>A (p.Arg391Ser) c.724C>A (p.Arg242Ser) | |
| 5 | g.161294147G>A | CA447604632 | GABRB2 | c.1473C>T (p.Ser491=) c.*818C>T (n.*818C>T) c.1359C>T (p.Ser453=) c.1107C>T (p.Ser369=) c.609C>T (p.Ser203=) c.879C>T (p.Ser293=) c.1170C>T (p.Ser390=) c.723C>T (p.Ser241=) | |
| 5 | g.161294147G>C | CA447604633 | GABRB2 | c.1473C>G (p.Ser491=) c.*818C>G (n.*818C>G) c.1359C>G (p.Ser453=) c.1107C>G (p.Ser369=) c.609C>G (p.Ser203=) c.879C>G (p.Ser293=) c.1170C>G (p.Ser390=) c.723C>G (p.Ser241=) | dbSNP gnomAD v2 |
| 5 | g.161294147G= | CA1595966663 | GABRB2 | c.1473C= (p.Ser491=) c.*818C= (n.*818C=) c.1359C= (p.Ser453=) c.1107C= (p.Ser369=) c.609C= (p.Ser203=) c.879C= (p.Ser293=) c.1170C= (p.Ser390=) c.723C= (p.Ser241=) | |
| 5 | g.161294147G>T | CA447604634 | GABRB2 | c.1473C>A (p.Ser491=) c.*818C>A (n.*818C>A) c.1359C>A (p.Ser453=) c.1107C>A (p.Ser369=) c.609C>A (p.Ser203=) c.879C>A (p.Ser293=) c.1170C>A (p.Ser390=) c.723C>A (p.Ser241=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.161294148G>A | CA362172943 | GABRB2 | c.1472C>T (p.Ser491Phe) c.*817C>T (n.*817C>T) c.1358C>T (p.Ser453Phe) c.1106C>T (p.Ser369Phe) c.608C>T (p.Ser203Phe) c.878C>T (p.Ser293Phe) c.1169C>T (p.Ser390Phe) c.722C>T (p.Ser241Phe) | |
| 5 | g.161294148G>C | CA362172944 | GABRB2 | c.1472C>G (p.Ser491Cys) c.*817C>G (n.*817C>G) c.1358C>G (p.Ser453Cys) c.1106C>G (p.Ser369Cys) c.608C>G (p.Ser203Cys) c.878C>G (p.Ser293Cys) c.1169C>G (p.Ser390Cys) c.722C>G (p.Ser241Cys) | |
| 5 | g.161294148G>T | CA362172945 | GABRB2 | c.1472C>A (p.Ser491Tyr) c.*817C>A (n.*817C>A) c.1358C>A (p.Ser453Tyr) c.1106C>A (p.Ser369Tyr) c.608C>A (p.Ser203Tyr) c.878C>A (p.Ser293Tyr) c.1169C>A (p.Ser390Tyr) c.722C>A (p.Ser241Tyr) | |
| 5 | g.161294149A= | CA1595966667 | GABRB2 | c.1471T= (p.Ser491=) c.*816T= (n.*816T=) c.1357T= (p.Ser453=) c.1105T= (p.Ser369=) c.607T= (p.Ser203=) c.877T= (p.Ser293=) c.1168T= (p.Ser390=) c.721T= (p.Ser241=) | |
| 5 | g.161294149A>C | CA362172947 | GABRB2 | c.1471T>G (p.Ser491Ala) c.*816T>G (n.*816T>G) c.1357T>G (p.Ser453Ala) c.1105T>G (p.Ser369Ala) c.607T>G (p.Ser203Ala) c.877T>G (p.Ser293Ala) c.1168T>G (p.Ser390Ala) c.721T>G (p.Ser241Ala) | |
| 5 | g.161294149A>G | CA362172949 | GABRB2 | c.1471T>C (p.Ser491Pro) c.*816T>C (n.*816T>C) c.1357T>C (p.Ser453Pro) c.1105T>C (p.Ser369Pro) c.607T>C (p.Ser203Pro) c.877T>C (p.Ser293Pro) c.1168T>C (p.Ser390Pro) c.721T>C (p.Ser241Pro) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.161294149A>T | CA362172950 | GABRB2 | c.1471T>A (p.Ser491Thr) c.*816T>A (n.*816T>A) c.1357T>A (p.Ser453Thr) c.1105T>A (p.Ser369Thr) c.607T>A (p.Ser203Thr) c.877T>A (p.Ser293Thr) c.1168T>A (p.Ser390Thr) c.721T>A (p.Ser241Thr) | |
| 5 | g.161294150C>A | CA362172958 | GABRB2 | c.1470G>T (p.Trp490Cys) c.*815G>T (n.*815G>T) c.1356G>T (p.Trp452Cys) c.1104G>T (p.Trp368Cys) c.606G>T (p.Trp202Cys) c.876G>T (p.Trp292Cys) c.1167G>T (p.Trp389Cys) c.720G>T (p.Trp240Cys) | |
| 5 | g.161294150C>G | CA362172954 | GABRB2 | c.1470G>C (p.Trp490Cys) c.*815G>C (n.*815G>C) c.1356G>C (p.Trp452Cys) c.1104G>C (p.Trp368Cys) c.606G>C (p.Trp202Cys) c.876G>C (p.Trp292Cys) c.1167G>C (p.Trp389Cys) c.720G>C (p.Trp240Cys) | |
| 5 | g.161294150C>T | CA362172956 | GABRB2 | c.1470G>A (p.Trp490Ter) c.*815G>A (n.*815G>A) c.1356G>A (p.Trp452Ter) c.1104G>A (p.Trp368Ter) c.606G>A (p.Trp202Ter) c.876G>A (p.Trp292Ter) c.1167G>A (p.Trp389Ter) c.720G>A (p.Trp240Ter) | |
| 5 | g.161294151C>A | CA362172961 | GABRB2 | c.1469G>T (p.Trp490Leu) c.*814G>T (n.*814G>T) c.1355G>T (p.Trp452Leu) c.1103G>T (p.Trp368Leu) c.605G>T (p.Trp202Leu) c.875G>T (p.Trp292Leu) c.1166G>T (p.Trp389Leu) c.719G>T (p.Trp240Leu) | |
| 5 | g.161294151C>G | CA362172968 | GABRB2 | c.1469G>C (p.Trp490Ser) c.*814G>C (n.*814G>C) c.1355G>C (p.Trp452Ser) c.1103G>C (p.Trp368Ser) c.605G>C (p.Trp202Ser) c.875G>C (p.Trp292Ser) c.1166G>C (p.Trp389Ser) c.719G>C (p.Trp240Ser) | |
| 5 | g.161294151C>T | CA362172970 | GABRB2 | c.1469G>A (p.Trp490Ter) c.*814G>A (n.*814G>A) c.1355G>A (p.Trp452Ter) c.1103G>A (p.Trp368Ter) c.605G>A (p.Trp202Ter) c.875G>A (p.Trp292Ter) c.1166G>A (p.Trp389Ter) c.719G>A (p.Trp240Ter) | |
| 5 | g.161294152A>C | CA362172971 | GABRB2 | c.1468T>G (p.Trp490Gly) c.*813T>G (n.*813T>G) c.1354T>G (p.Trp452Gly) c.1102T>G (p.Trp368Gly) c.604T>G (p.Trp202Gly) c.874T>G (p.Trp292Gly) c.1165T>G (p.Trp389Gly) c.718T>G (p.Trp240Gly) | gnomAD v4 |
| 5 | g.161294152A>G | CA362172972 | GABRB2 | c.1468T>C (p.Trp490Arg) c.*813T>C (n.*813T>C) c.1354T>C (p.Trp452Arg) c.1102T>C (p.Trp368Arg) c.604T>C (p.Trp202Arg) c.874T>C (p.Trp292Arg) c.1165T>C (p.Trp389Arg) c.718T>C (p.Trp240Arg) | gnomAD v4 |
| 5 | g.161294152A>T | CA362172973 | GABRB2 | c.1468T>A (p.Trp490Arg) c.*813T>A (n.*813T>A) c.1354T>A (p.Trp452Arg) c.1102T>A (p.Trp368Arg) c.604T>A (p.Trp202Arg) c.874T>A (p.Trp292Arg) c.1165T>A (p.Trp389Arg) c.718T>A (p.Trp240Arg) | |
| 5 | g.161294153C>A | CA447604637 | GABRB2 | c.1467G>T (p.Arg489=) c.*812G>T (n.*812G>T) c.1353G>T (p.Arg451=) c.1101G>T (p.Arg367=) c.603G>T (p.Arg201=) c.873G>T (p.Arg291=) c.1164G>T (p.Arg388=) c.717G>T (p.Arg239=) | |
| 5 | g.161294153C>G | CA447604638 | GABRB2 | c.1467G>C (p.Arg489=) c.*812G>C (n.*812G>C) c.1353G>C (p.Arg451=) c.1101G>C (p.Arg367=) c.603G>C (p.Arg201=) c.873G>C (p.Arg291=) c.1164G>C (p.Arg388=) c.717G>C (p.Arg239=) | |
| 5 | g.161294153C>T | CA447604639 | GABRB2 | c.1467G>A (p.Arg489=) c.*812G>A (n.*812G>A) c.1353G>A (p.Arg451=) c.1101G>A (p.Arg367=) c.603G>A (p.Arg201=) c.873G>A (p.Arg291=) c.1164G>A (p.Arg388=) c.717G>A (p.Arg239=) | |
| 5 | g.161294154C>A | CA362172974 | GABRB2 | c.1466G>T (p.Arg489Leu) c.*811G>T (n.*811G>T) c.1352G>T (p.Arg451Leu) c.1100G>T (p.Arg367Leu) c.602G>T (p.Arg201Leu) c.872G>T (p.Arg291Leu) c.1163G>T (p.Arg388Leu) c.716G>T (p.Arg239Leu) | |
| 5 | g.161294154C>G | CA362172976 | GABRB2 | c.1466G>C (p.Arg489Pro) c.*811G>C (n.*811G>C) c.1352G>C (p.Arg451Pro) c.1100G>C (p.Arg367Pro) c.602G>C (p.Arg201Pro) c.872G>C (p.Arg291Pro) c.1163G>C (p.Arg388Pro) c.716G>C (p.Arg239Pro) | |
| 5 | g.161294154C>T | CA362172980 | GABRB2 | c.1466G>A (p.Arg489Gln) c.*811G>A (n.*811G>A) c.1352G>A (p.Arg451Gln) c.1100G>A (p.Arg367Gln) c.602G>A (p.Arg201Gln) c.872G>A (p.Arg291Gln) c.1163G>A (p.Arg388Gln) c.716G>A (p.Arg239Gln) | gnomAD v4 |
| 5 | g.161294155G>A | CA362172981 | GABRB2 | c.1465C>T (p.Arg489Trp) c.*810C>T (n.*810C>T) c.1351C>T (p.Arg451Trp) c.1099C>T (p.Arg367Trp) c.601C>T (p.Arg201Trp) c.871C>T (p.Arg291Trp) c.1162C>T (p.Arg388Trp) c.715C>T (p.Arg239Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.161294155G>C | CA362172982 | GABRB2 | c.1465C>G (p.Arg489Gly) c.*810C>G (n.*810C>G) c.1351C>G (p.Arg451Gly) c.1099C>G (p.Arg367Gly) c.601C>G (p.Arg201Gly) c.871C>G (p.Arg291Gly) c.1162C>G (p.Arg388Gly) c.715C>G (p.Arg239Gly) | |
| 5 | g.161294155G= | CA1595966672 | GABRB2 | c.1465C= (p.Arg489=) c.*810C= (n.*810C=) c.1351C= (p.Arg451=) c.1099C= (p.Arg367=) c.601C= (p.Arg201=) c.871C= (p.Arg291=) c.1162C= (p.Arg388=) c.715C= (p.Arg239=) | |
| 5 | g.161294155G>T | CA131016121 | GABRB2 | c.1465C>A (p.Arg489=) c.*810C>A (n.*810C>A) c.1351C>A (p.Arg451=) c.1099C>A (p.Arg367=) c.601C>A (p.Arg201=) c.871C>A (p.Arg291=) c.1162C>A (p.Arg388=) c.715C>A (p.Arg239=) | dbSNP gnomAD v4 |
| 5 | g.161294156A>C | CA362172991 | GABRB2 | c.1464T>G (p.Asp488Glu) c.*809T>G (n.*809T>G) c.1350T>G (p.Asp450Glu) c.1098T>G (p.Asp366Glu) c.600T>G (p.Asp200Glu) c.870T>G (p.Asp290Glu) c.1161T>G (p.Asp387Glu) c.714T>G (p.Asp238Glu) | |
| 5 | g.161294156A>G | CA447604640 | GABRB2 | c.1464T>C (p.Asp488=) c.*809T>C (n.*809T>C) c.1350T>C (p.Asp450=) c.1098T>C (p.Asp366=) c.600T>C (p.Asp200=) c.870T>C (p.Asp290=) c.1161T>C (p.Asp387=) c.714T>C (p.Asp238=) | |
| 5 | g.161294156A>T | CA362172988 | GABRB2 | c.1464T>A (p.Asp488Glu) c.*809T>A (n.*809T>A) c.1350T>A (p.Asp450Glu) c.1098T>A (p.Asp366Glu) c.600T>A (p.Asp200Glu) c.870T>A (p.Asp290Glu) c.1161T>A (p.Asp387Glu) c.714T>A (p.Asp238Glu) | |
| 5 | g.161294157T>A | CA362172994 | GABRB2 | c.1463A>T (p.Asp488Val) c.*808A>T (n.*808A>T) c.1349A>T (p.Asp450Val) c.1097A>T (p.Asp366Val) c.599A>T (p.Asp200Val) c.869A>T (p.Asp290Val) c.1160A>T (p.Asp387Val) c.713A>T (p.Asp238Val) | |
| 5 | g.161294157T>C | CA362172996 | GABRB2 | c.1463A>G (p.Asp488Gly) c.*808A>G (n.*808A>G) c.1349A>G (p.Asp450Gly) c.1097A>G (p.Asp366Gly) c.599A>G (p.Asp200Gly) c.869A>G (p.Asp290Gly) c.1160A>G (p.Asp387Gly) c.713A>G (p.Asp238Gly) | |
| 5 | g.161294157T>G | CA362173001 | GABRB2 | c.1463A>C (p.Asp488Ala) c.*808A>C (n.*808A>C) c.1349A>C (p.Asp450Ala) c.1097A>C (p.Asp366Ala) c.599A>C (p.Asp200Ala) c.869A>C (p.Asp290Ala) c.1160A>C (p.Asp387Ala) c.713A>C (p.Asp238Ala) | |
| 5 | g.161294158C>A | CA362173005 | GABRB2 | c.1462G>T (p.Asp488Tyr) c.*807G>T (n.*807G>T) c.1348G>T (p.Asp450Tyr) c.1096G>T (p.Asp366Tyr) c.598G>T (p.Asp200Tyr) c.868G>T (p.Asp290Tyr) c.1159G>T (p.Asp387Tyr) c.712G>T (p.Asp238Tyr) | COSMIC COSMIC |
| 5 | g.161294158C>G | CA362173007 | GABRB2 | c.1462G>C (p.Asp488His) c.*807G>C (n.*807G>C) c.1348G>C (p.Asp450His) c.1096G>C (p.Asp366His) c.598G>C (p.Asp200His) c.868G>C (p.Asp290His) c.1159G>C (p.Asp387His) c.712G>C (p.Asp238His) | |
| 5 | g.161294158C>T | CA362173010 | GABRB2 | c.1462G>A (p.Asp488Asn) c.*807G>A (n.*807G>A) c.1348G>A (p.Asp450Asn) c.1096G>A (p.Asp366Asn) c.598G>A (p.Asp200Asn) c.868G>A (p.Asp290Asn) c.1159G>A (p.Asp387Asn) c.712G>A (p.Asp238Asn) | |
| 5 | g.161294159T>A | CA447604641 | GABRB2 | c.1461A>T (p.Ile487=) c.*806A>T (n.*806A>T) c.1347A>T (p.Ile449=) c.1095A>T (p.Ile365=) c.597A>T (p.Ile199=) c.867A>T (p.Ile289=) c.1158A>T (p.Ile386=) c.711A>T (p.Ile237=) | |
| 5 | g.161294159T>C | CA362173013 | GABRB2 | c.1461A>G (p.Ile487Met) c.*806A>G (n.*806A>G) c.1347A>G (p.Ile449Met) c.1095A>G (p.Ile365Met) c.597A>G (p.Ile199Met) c.867A>G (p.Ile289Met) c.1158A>G (p.Ile386Met) c.711A>G (p.Ile237Met) | |
| 5 | g.161294159T>G | CA447604642 | GABRB2 | c.1461A>C (p.Ile487=) c.*806A>C (n.*806A>C) c.1347A>C (p.Ile449=) c.1095A>C (p.Ile365=) c.597A>C (p.Ile199=) c.867A>C (p.Ile289=) c.1158A>C (p.Ile386=) c.711A>C (p.Ile237=) | |
| 5 | g.161294160A= | CA1595966678 | GABRB2 | c.1460T= (p.Ile487=) c.*805T= (n.*805T=) c.1346T= (p.Ile449=) c.1094T= (p.Ile365=) c.596T= (p.Ile199=) c.866T= (p.Ile289=) c.1157T= (p.Ile386=) c.710T= (p.Ile237=) | |
| 5 | g.161294160A>C | CA362173014 | GABRB2 | c.1460T>G (p.Ile487Arg) c.*805T>G (n.*805T>G) c.1346T>G (p.Ile449Arg) c.1094T>G (p.Ile365Arg) c.596T>G (p.Ile199Arg) c.866T>G (p.Ile289Arg) c.1157T>G (p.Ile386Arg) c.710T>G (p.Ile237Arg) | |
| 5 | g.161294160A>G | CA3543315 | GABRB2 | c.1460T>C (p.Ile487Thr) c.*805T>C (n.*805T>C) c.1346T>C (p.Ile449Thr) c.1094T>C (p.Ile365Thr) c.596T>C (p.Ile199Thr) c.866T>C (p.Ile289Thr) c.1157T>C (p.Ile386Thr) c.710T>C (p.Ile237Thr) | dbSNP ExAC |
| 5 | g.161294160A>T | CA362173017 | GABRB2 | c.1460T>A (p.Ile487Lys) c.*805T>A (n.*805T>A) c.1346T>A (p.Ile449Lys) c.1094T>A (p.Ile365Lys) c.596T>A (p.Ile199Lys) c.866T>A (p.Ile289Lys) c.1157T>A (p.Ile386Lys) c.710T>A (p.Ile237Lys) | |
| 5 | g.161294161T>A | CA362173018 | GABRB2 | c.1459A>T (p.Ile487Leu) c.*804A>T (n.*804A>T) c.1345A>T (p.Ile449Leu) c.1093A>T (p.Ile365Leu) c.595A>T (p.Ile199Leu) c.865A>T (p.Ile289Leu) c.1156A>T (p.Ile386Leu) c.709A>T (p.Ile237Leu) | |
| 5 | g.161294161T>C | CA3543316 | GABRB2 | c.1459A>G (p.Ile487Val) c.*804A>G (n.*804A>G) c.1345A>G (p.Ile449Val) c.1093A>G (p.Ile365Val) c.595A>G (p.Ile199Val) c.865A>G (p.Ile289Val) c.1156A>G (p.Ile386Val) c.709A>G (p.Ile237Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161294161T>G | CA362173021 | GABRB2 | c.1459A>C (p.Ile487Leu) c.*804A>C (n.*804A>C) c.1345A>C (p.Ile449Leu) c.1093A>C (p.Ile365Leu) c.595A>C (p.Ile199Leu) c.865A>C (p.Ile289Leu) c.1156A>C (p.Ile386Leu) c.709A>C (p.Ile237Leu) | gnomAD v4 |
| 5 | g.161294161T= | CA1595966682 | GABRB2 | c.1459A= (p.Ile487=) c.*804A= (n.*804A=) c.1345A= (p.Ile449=) c.1093A= (p.Ile365=) c.595A= (p.Ile199=) c.865A= (p.Ile289=) c.1156A= (p.Ile386=) c.709A= (p.Ile237=) | |
| 5 | g.161294162G>A | CA447604643 | GABRB2 | c.1458C>T (p.Ala486=) c.*803C>T (n.*803C>T) c.1344C>T (p.Ala448=) c.1092C>T (p.Ala364=) c.594C>T (p.Ala198=) c.864C>T (p.Ala288=) c.1155C>T (p.Ala385=) c.708C>T (p.Ala236=) | |
| 5 | g.161294162G>C | CA447604644 | GABRB2 | c.1458C>G (p.Ala486=) c.*803C>G (n.*803C>G) c.1344C>G (p.Ala448=) c.1092C>G (p.Ala364=) c.594C>G (p.Ala198=) c.864C>G (p.Ala288=) c.1155C>G (p.Ala385=) c.708C>G (p.Ala236=) | |
| 5 | g.161294162G>T | CA447604645 | GABRB2 | c.1458C>A (p.Ala486=) c.*803C>A (n.*803C>A) c.1344C>A (p.Ala448=) c.1092C>A (p.Ala364=) c.594C>A (p.Ala198=) c.864C>A (p.Ala288=) c.1155C>A (p.Ala385=) c.708C>A (p.Ala236=) | |
| 5 | g.161294163G>A | CA362173029 | GABRB2 | c.1457C>T (p.Ala486Val) c.*802C>T (n.*802C>T) c.1343C>T (p.Ala448Val) c.1091C>T (p.Ala364Val) c.593C>T (p.Ala198Val) c.863C>T (p.Ala288Val) c.1154C>T (p.Ala385Val) c.707C>T (p.Ala236Val) | |
| 5 | g.161294163G>C | CA362173026 | GABRB2 | c.1457C>G (p.Ala486Gly) c.*802C>G (n.*802C>G) c.1343C>G (p.Ala448Gly) c.1091C>G (p.Ala364Gly) c.593C>G (p.Ala198Gly) c.863C>G (p.Ala288Gly) c.1154C>G (p.Ala385Gly) c.707C>G (p.Ala236Gly) | gnomAD v4 |
| 5 | g.161294163G= | CA1595966685 | GABRB2 | c.1457C= (p.Ala486=) c.*802C= (n.*802C=) c.1343C= (p.Ala448=) c.1091C= (p.Ala364=) c.593C= (p.Ala198=) c.863C= (p.Ala288=) c.1154C= (p.Ala385=) c.707C= (p.Ala236=) | |
| 5 | g.161294163G>T | CA362173024 | GABRB2 | c.1457C>A (p.Ala486Asp) c.*802C>A (n.*802C>A) c.1343C>A (p.Ala448Asp) c.1091C>A (p.Ala364Asp) c.593C>A (p.Ala198Asp) c.863C>A (p.Ala288Asp) c.1154C>A (p.Ala385Asp) c.707C>A (p.Ala236Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.161294164C>A | CA362173034 | GABRB2 | c.1456G>T (p.Ala486Ser) c.*801G>T (n.*801G>T) c.1342G>T (p.Ala448Ser) c.1090G>T (p.Ala364Ser) c.592G>T (p.Ala198Ser) c.862G>T (p.Ala288Ser) c.1153G>T (p.Ala385Ser) c.706G>T (p.Ala236Ser) | dbSNP |
| 5 | g.161294164C= | CA1595966686 | GABRB2 | c.1456G= (p.Ala486=) c.*801G= (n.*801G=) c.1342G= (p.Ala448=) c.1090G= (p.Ala364=) c.592G= (p.Ala198=) c.862G= (p.Ala288=) c.1153G= (p.Ala385=) c.706G= (p.Ala236=) | |
| 5 | g.161294164C>G | CA362173036 | GABRB2 | c.1456G>C (p.Ala486Pro) c.*801G>C (n.*801G>C) c.1342G>C (p.Ala448Pro) c.1090G>C (p.Ala364Pro) c.592G>C (p.Ala198Pro) c.862G>C (p.Ala288Pro) c.1153G>C (p.Ala385Pro) c.706G>C (p.Ala236Pro) | |
| 5 | g.161294164C>T | CA362173037 | GABRB2 | c.1456G>A (p.Ala486Thr) c.*801G>A (n.*801G>A) c.1342G>A (p.Ala448Thr) c.1090G>A (p.Ala364Thr) c.592G>A (p.Ala198Thr) c.862G>A (p.Ala288Thr) c.1153G>A (p.Ala385Thr) c.706G>A (p.Ala236Thr) | COSMIC COSMIC |
| 5 | g.161294165A>C | CA362173039 | GABRB2 | c.1455T>G (p.Asn485Lys) c.*800T>G (n.*800T>G) c.1341T>G (p.Asn447Lys) c.1089T>G (p.Asn363Lys) c.591T>G (p.Asn197Lys) c.861T>G (p.Asn287Lys) c.1152T>G (p.Asn384Lys) c.705T>G (p.Asn235Lys) | |
| 5 | g.161294165A>G | CA447604646 | GABRB2 | c.1455T>C (p.Asn485=) c.*800T>C (n.*800T>C) c.1341T>C (p.Asn447=) c.1089T>C (p.Asn363=) c.591T>C (p.Asn197=) c.861T>C (p.Asn287=) c.1152T>C (p.Asn384=) c.705T>C (p.Asn235=) | gnomAD v4 |
| 5 | g.161294165A>T | CA362173040 | GABRB2 | c.1455T>A (p.Asn485Lys) c.*800T>A (n.*800T>A) c.1341T>A (p.Asn447Lys) c.1089T>A (p.Asn363Lys) c.591T>A (p.Asn197Lys) c.861T>A (p.Asn287Lys) c.1152T>A (p.Asn384Lys) c.705T>A (p.Asn235Lys) | |
| 5 | g.161294166T>A | CA362173043 | GABRB2 | c.1454A>T (p.Asn485Ile) c.*799A>T (n.*799A>T) c.1340A>T (p.Asn447Ile) c.1088A>T (p.Asn363Ile) c.590A>T (p.Asn197Ile) c.860A>T (p.Asn287Ile) c.1151A>T (p.Asn384Ile) c.704A>T (p.Asn235Ile) | |
| 5 | g.161294166T>C | CA362173045 | GABRB2 | c.1454A>G (p.Asn485Ser) c.*799A>G (n.*799A>G) c.1340A>G (p.Asn447Ser) c.1088A>G (p.Asn363Ser) c.590A>G (p.Asn197Ser) c.860A>G (p.Asn287Ser) c.1151A>G (p.Asn384Ser) c.704A>G (p.Asn235Ser) | |
| 5 | g.161294166T>G | CA362173047 | GABRB2 | c.1454A>C (p.Asn485Thr) c.*799A>C (n.*799A>C) c.1340A>C (p.Asn447Thr) c.1088A>C (p.Asn363Thr) c.590A>C (p.Asn197Thr) c.860A>C (p.Asn287Thr) c.1151A>C (p.Asn384Thr) c.704A>C (p.Asn235Thr) | |
| 5 | g.161294167T>A | CA362173050 | GABRB2 | c.1453A>T (p.Asn485Tyr) c.*798A>T (n.*798A>T) c.1339A>T (p.Asn447Tyr) c.1087A>T (p.Asn363Tyr) c.589A>T (p.Asn197Tyr) c.859A>T (p.Asn287Tyr) c.1150A>T (p.Asn384Tyr) c.703A>T (p.Asn235Tyr) | |
| 5 | g.161294167T>C | CA362173051 | GABRB2 | c.1453A>G (p.Asn485Asp) c.*798A>G (n.*798A>G) c.1339A>G (p.Asn447Asp) c.1087A>G (p.Asn363Asp) c.589A>G (p.Asn197Asp) c.859A>G (p.Asn287Asp) c.1150A>G (p.Asn384Asp) c.703A>G (p.Asn235Asp) | gnomAD v4 |
| 5 | g.161294167T>G | CA362173054 | GABRB2 | c.1453A>C (p.Asn485His) c.*798A>C (n.*798A>C) c.1339A>C (p.Asn447His) c.1087A>C (p.Asn363His) c.589A>C (p.Asn197His) c.859A>C (p.Asn287His) c.1150A>C (p.Asn384His) c.703A>C (p.Asn235His) | |
| 5 | g.161294168C>A | CA447604647 | GABRB2 | c.1452G>T (p.Val484=) c.*797G>T (n.*797G>T) c.1338G>T (p.Val446=) c.1086G>T (p.Val362=) c.588G>T (p.Val196=) c.858G>T (p.Val286=) c.1149G>T (p.Val383=) c.702G>T (p.Val234=) | |
| 5 | g.161294168C>G | CA447604648 | GABRB2 | c.1452G>C (p.Val484=) c.*797G>C (n.*797G>C) c.1338G>C (p.Val446=) c.1086G>C (p.Val362=) c.588G>C (p.Val196=) c.858G>C (p.Val286=) c.1149G>C (p.Val383=) c.702G>C (p.Val234=) | |
| 5 | g.161294168C>T | CA447604649 | GABRB2 | c.1452G>A (p.Val484=) c.*797G>A (n.*797G>A) c.1338G>A (p.Val446=) c.1086G>A (p.Val362=) c.588G>A (p.Val196=) c.858G>A (p.Val286=) c.1149G>A (p.Val383=) c.702G>A (p.Val234=) | |
| 5 | g.161294169A>C | CA362173057 | GABRB2 | c.1451T>G (p.Val484Gly) c.*796T>G (n.*796T>G) c.1337T>G (p.Val446Gly) c.1085T>G (p.Val362Gly) c.587T>G (p.Val196Gly) c.857T>G (p.Val286Gly) c.1148T>G (p.Val383Gly) c.701T>G (p.Val234Gly) | |
| 5 | g.161294169A>G | CA362173059 | GABRB2 | c.1451T>C (p.Val484Ala) c.*796T>C (n.*796T>C) c.1337T>C (p.Val446Ala) c.1085T>C (p.Val362Ala) c.587T>C (p.Val196Ala) c.857T>C (p.Val286Ala) c.1148T>C (p.Val383Ala) c.701T>C (p.Val234Ala) | |
| 5 | g.161294169A>T | CA362173061 | GABRB2 | c.1451T>A (p.Val484Glu) c.*796T>A (n.*796T>A) c.1337T>A (p.Val446Glu) c.1085T>A (p.Val362Glu) c.587T>A (p.Val196Glu) c.857T>A (p.Val286Glu) c.1148T>A (p.Val383Glu) c.701T>A (p.Val234Glu) | |
| 5 | g.161294170C>A | CA362173066 | GABRB2 | c.1450G>T (p.Val484Leu) c.*795G>T (n.*795G>T) c.1336G>T (p.Val446Leu) c.1084G>T (p.Val362Leu) c.586G>T (p.Val196Leu) c.856G>T (p.Val286Leu) c.1147G>T (p.Val383Leu) c.700G>T (p.Val234Leu) | |
| 5 | g.161294170C>G | CA362173068 | GABRB2 | c.1450G>C (p.Val484Leu) c.*795G>C (n.*795G>C) c.1336G>C (p.Val446Leu) c.1084G>C (p.Val362Leu) c.586G>C (p.Val196Leu) c.856G>C (p.Val286Leu) c.1147G>C (p.Val383Leu) c.700G>C (p.Val234Leu) | gnomAD v4 |
| 5 | g.161294170C>T | CA362173064 | GABRB2 | c.1450G>A (p.Val484Met) c.*795G>A (n.*795G>A) c.1336G>A (p.Val446Met) c.1084G>A (p.Val362Met) c.586G>A (p.Val196Met) c.856G>A (p.Val286Met) c.1147G>A (p.Val383Met) c.700G>A (p.Val234Met) | |
| 5 | g.161294171A>C | CA362173071 | GABRB2 | c.1449T>G (p.Asp483Glu) c.*794T>G (n.*794T>G) c.1335T>G (p.Asp445Glu) c.1083T>G (p.Asp361Glu) c.585T>G (p.Asp195Glu) c.855T>G (p.Asp285Glu) c.1146T>G (p.Asp382Glu) c.699T>G (p.Asp233Glu) | |
| 5 | g.161294171A>G | CA447604650 | GABRB2 | c.1449T>C (p.Asp483=) c.*794T>C (n.*794T>C) c.1335T>C (p.Asp445=) c.1083T>C (p.Asp361=) c.585T>C (p.Asp195=) c.855T>C (p.Asp285=) c.1146T>C (p.Asp382=) c.699T>C (p.Asp233=) | |
| 5 | g.161294171A>T | CA362173072 | GABRB2 | c.1449T>A (p.Asp483Glu) c.*794T>A (n.*794T>A) c.1335T>A (p.Asp445Glu) c.1083T>A (p.Asp361Glu) c.585T>A (p.Asp195Glu) c.855T>A (p.Asp285Glu) c.1146T>A (p.Asp382Glu) c.699T>A (p.Asp233Glu) | |
| 5 | g.161294172T>A | CA362173073 | GABRB2 | c.1448A>T (p.Asp483Val) c.*793A>T (n.*793A>T) c.1334A>T (p.Asp445Val) c.1082A>T (p.Asp361Val) c.584A>T (p.Asp195Val) c.854A>T (p.Asp285Val) c.1145A>T (p.Asp382Val) c.698A>T (p.Asp233Val) | |
| 5 | g.161294172T>C | CA362173074 | GABRB2 | c.1448A>G (p.Asp483Gly) c.*793A>G (n.*793A>G) c.1334A>G (p.Asp445Gly) c.1082A>G (p.Asp361Gly) c.584A>G (p.Asp195Gly) c.854A>G (p.Asp285Gly) c.1145A>G (p.Asp382Gly) c.698A>G (p.Asp233Gly) | |
| 5 | g.161294172T>G | CA362173076 | GABRB2 | c.1448A>C (p.Asp483Ala) c.*793A>C (n.*793A>C) c.1334A>C (p.Asp445Ala) c.1082A>C (p.Asp361Ala) c.584A>C (p.Asp195Ala) c.854A>C (p.Asp285Ala) c.1145A>C (p.Asp382Ala) c.698A>C (p.Asp233Ala) | |
| 5 | g.161294173C>A | CA362173077 | GABRB2 | c.1447G>T (p.Asp483Tyr) c.*792G>T (n.*792G>T) c.1333G>T (p.Asp445Tyr) c.1081G>T (p.Asp361Tyr) c.583G>T (p.Asp195Tyr) c.853G>T (p.Asp285Tyr) c.1144G>T (p.Asp382Tyr) c.697G>T (p.Asp233Tyr) | |
| 5 | g.161294173C= | CA1595966689 | GABRB2 | c.1447G= (p.Asp483=) c.*792G= (n.*792G=) c.1333G= (p.Asp445=) c.1081G= (p.Asp361=) c.583G= (p.Asp195=) c.853G= (p.Asp285=) c.1144G= (p.Asp382=) c.697G= (p.Asp233=) | |
| 5 | g.161294173C>G | CA362173078 | GABRB2 | c.1447G>C (p.Asp483His) c.*792G>C (n.*792G>C) c.1333G>C (p.Asp445His) c.1081G>C (p.Asp361His) c.583G>C (p.Asp195His) c.853G>C (p.Asp285His) c.1144G>C (p.Asp382His) c.697G>C (p.Asp233His) | |
| 5 | g.161294173C>T | CA362173080 | GABRB2 | c.1447G>A (p.Asp483Asn) c.*792G>A (n.*792G>A) c.1333G>A (p.Asp445Asn) c.1081G>A (p.Asp361Asn) c.583G>A (p.Asp195Asn) c.853G>A (p.Asp285Asn) c.1144G>A (p.Asp382Asn) c.697G>A (p.Asp233Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.161294174A= | CA1595966692 | GABRB2 | c.1446T= (p.Thr482=) c.*791T= (n.*791T=) c.1332T= (p.Thr444=) c.1080T= (p.Thr360=) c.582T= (p.Thr194=) c.852T= (p.Thr284=) c.1143T= (p.Thr381=) c.696T= (p.Thr232=) | |
| 5 | g.161294174A>C | CA447604651 | GABRB2 | c.1446T>G (p.Thr482=) c.*791T>G (n.*791T>G) c.1332T>G (p.Thr444=) c.1080T>G (p.Thr360=) c.582T>G (p.Thr194=) c.852T>G (p.Thr284=) c.1143T>G (p.Thr381=) c.696T>G (p.Thr232=) | |
| 5 | g.161294174A>G | CA3543317 | GABRB2 | c.1446T>C (p.Thr482=) c.*791T>C (n.*791T>C) c.1332T>C (p.Thr444=) c.1080T>C (p.Thr360=) c.582T>C (p.Thr194=) c.852T>C (p.Thr284=) c.1143T>C (p.Thr381=) c.696T>C (p.Thr232=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161294174A>T | CA447604652 | GABRB2 | c.1446T>A (p.Thr482=) c.*791T>A (n.*791T>A) c.1332T>A (p.Thr444=) c.1080T>A (p.Thr360=) c.582T>A (p.Thr194=) c.852T>A (p.Thr284=) c.1143T>A (p.Thr381=) c.696T>A (p.Thr232=) | |
| 5 | g.161294175G>A | CA362173083 | GABRB2 | c.1445C>T (p.Thr482Ile) c.*790C>T (n.*790C>T) c.1331C>T (p.Thr444Ile) c.1079C>T (p.Thr360Ile) c.581C>T (p.Thr194Ile) c.851C>T (p.Thr284Ile) c.1142C>T (p.Thr381Ile) c.695C>T (p.Thr232Ile) | COSMIC COSMIC |
| 5 | g.161294175G>C | CA362173085 | GABRB2 | c.1445C>G (p.Thr482Ser) c.*790C>G (n.*790C>G) c.1331C>G (p.Thr444Ser) c.1079C>G (p.Thr360Ser) c.581C>G (p.Thr194Ser) c.851C>G (p.Thr284Ser) c.1142C>G (p.Thr381Ser) c.695C>G (p.Thr232Ser) | |
| 5 | g.161294175G>T | CA362173086 | GABRB2 | c.1445C>A (p.Thr482Asn) c.*790C>A (n.*790C>A) c.1331C>A (p.Thr444Asn) c.1079C>A (p.Thr360Asn) c.581C>A (p.Thr194Asn) c.851C>A (p.Thr284Asn) c.1142C>A (p.Thr381Asn) c.695C>A (p.Thr232Asn) | |
| 5 | g.161294176T>A | CA362173091 | GABRB2 | c.1444A>T (p.Thr482Ser) c.*789A>T (n.*789A>T) c.1330A>T (p.Thr444Ser) c.1078A>T (p.Thr360Ser) c.580A>T (p.Thr194Ser) c.850A>T (p.Thr284Ser) c.1141A>T (p.Thr381Ser) c.694A>T (p.Thr232Ser) | |
| 5 | g.161294176T>C | CA362173088 | GABRB2 | c.1444A>G (p.Thr482Ala) c.*789A>G (n.*789A>G) c.1330A>G (p.Thr444Ala) c.1078A>G (p.Thr360Ala) c.580A>G (p.Thr194Ala) c.850A>G (p.Thr284Ala) c.1141A>G (p.Thr381Ala) c.694A>G (p.Thr232Ala) | |
| 5 | g.161294176T>G | CA362173089 | GABRB2 | c.1444A>C (p.Thr482Pro) c.*789A>C (n.*789A>C) c.1330A>C (p.Thr444Pro) c.1078A>C (p.Thr360Pro) c.580A>C (p.Thr194Pro) c.850A>C (p.Thr284Pro) c.1141A>C (p.Thr381Pro) c.694A>C (p.Thr232Pro) | |
| 5 | g.161294177C>A | CA362173092 | GABRB2 | c.1443G>T (p.Leu481Phe) c.*788G>T (n.*788G>T) c.1329G>T (p.Leu443Phe) c.1077G>T (p.Leu359Phe) c.579G>T (p.Leu193Phe) c.849G>T (p.Leu283Phe) c.1140G>T (p.Leu380Phe) c.693G>T (p.Leu231Phe) | gnomAD v4 |
| 5 | g.161294177C= | CA1595966697 | GABRB2 | c.1443G= (p.Leu481=) c.*788G= (n.*788G=) c.1329G= (p.Leu443=) c.1077G= (p.Leu359=) c.579G= (p.Leu193=) c.849G= (p.Leu283=) c.1140G= (p.Leu380=) c.693G= (p.Leu231=) | |
| 5 | g.161294177C>G | CA362173102 | GABRB2 | c.1443G>C (p.Leu481Phe) c.*788G>C (n.*788G>C) c.1329G>C (p.Leu443Phe) c.1077G>C (p.Leu359Phe) c.579G>C (p.Leu193Phe) c.849G>C (p.Leu283Phe) c.1140G>C (p.Leu380Phe) c.693G>C (p.Leu231Phe) | |
| 5 | g.161294177C>T | CA447604653 | GABRB2 | c.1443G>A (p.Leu481=) c.*788G>A (n.*788G>A) c.1329G>A (p.Leu443=) c.1077G>A (p.Leu359=) c.579G>A (p.Leu193=) c.849G>A (p.Leu283=) c.1140G>A (p.Leu380=) c.693G>A (p.Leu231=) | dbSNP |
| 5 | g.161294178A>C | CA362173105 | GABRB2 | c.1442T>G (p.Leu481Trp) c.*787T>G (n.*787T>G) c.1328T>G (p.Leu443Trp) c.1076T>G (p.Leu359Trp) c.578T>G (p.Leu193Trp) c.848T>G (p.Leu283Trp) c.1139T>G (p.Leu380Trp) c.692T>G (p.Leu231Trp) | |
| 5 | g.161294178A>G | CA362173107 | GABRB2 | c.1442T>C (p.Leu481Ser) c.*787T>C (n.*787T>C) c.1328T>C (p.Leu443Ser) c.1076T>C (p.Leu359Ser) c.578T>C (p.Leu193Ser) c.848T>C (p.Leu283Ser) c.1139T>C (p.Leu380Ser) c.692T>C (p.Leu231Ser) | |
| 5 | g.161294178A>T | CA362173109 | GABRB2 | c.1442T>A (p.Leu481Ter) c.*787T>A (n.*787T>A) c.1328T>A (p.Leu443Ter) c.1076T>A (p.Leu359Ter) c.578T>A (p.Leu193Ter) c.848T>A (p.Leu283Ter) c.1139T>A (p.Leu380Ter) c.692T>A (p.Leu231Ter) | |
| 5 | g.161294179A>C | CA362173113 | GABRB2 | c.1441T>G (p.Leu481Val) c.*786T>G (n.*786T>G) c.1327T>G (p.Leu443Val) c.1075T>G (p.Leu359Val) c.577T>G (p.Leu193Val) c.847T>G (p.Leu283Val) c.1138T>G (p.Leu380Val) c.691T>G (p.Leu231Val) | |
| 5 | g.161294179A>G | CA447604654 | GABRB2 | c.1441T>C (p.Leu481=) c.*786T>C (n.*786T>C) c.1327T>C (p.Leu443=) c.1075T>C (p.Leu359=) c.577T>C (p.Leu193=) c.847T>C (p.Leu283=) c.1138T>C (p.Leu380=) c.691T>C (p.Leu231=) | gnomAD v4 |
| 5 | g.161294179A>T | CA362173115 | GABRB2 | c.1441T>A (p.Leu481Met) c.*786T>A (n.*786T>A) c.1327T>A (p.Leu443Met) c.1075T>A (p.Leu359Met) c.577T>A (p.Leu193Met) c.847T>A (p.Leu283Met) c.1138T>A (p.Leu380Met) c.691T>A (p.Leu231Met) | |
| 5 | g.161294180G>A | CA447604655 | GABRB2 | c.1440C>T (p.Asp480=) c.*785C>T (n.*785C>T) c.1326C>T (p.Asp442=) c.1074C>T (p.Asp358=) c.576C>T (p.Asp192=) c.846C>T (p.Asp282=) c.1137C>T (p.Asp379=) c.690C>T (p.Asp230=) | |
| 5 | g.161294180G>C | CA362173116 | GABRB2 | c.1440C>G (p.Asp480Glu) c.*785C>G (n.*785C>G) c.1326C>G (p.Asp442Glu) c.1074C>G (p.Asp358Glu) c.576C>G (p.Asp192Glu) c.846C>G (p.Asp282Glu) c.1137C>G (p.Asp379Glu) c.690C>G (p.Asp230Glu) | |
| 5 | g.161294180G>T | CA362173117 | GABRB2 | c.1440C>A (p.Asp480Glu) c.*785C>A (n.*785C>A) c.1326C>A (p.Asp442Glu) c.1074C>A (p.Asp358Glu) c.576C>A (p.Asp192Glu) c.846C>A (p.Asp282Glu) c.1137C>A (p.Asp379Glu) c.690C>A (p.Asp230Glu) | COSMIC COSMIC |
| 5 | g.161294181T>A | CA362173119 | GABRB2 | c.1439A>T (p.Asp480Val) c.*784A>T (n.*784A>T) c.1325A>T (p.Asp442Val) c.1073A>T (p.Asp358Val) c.575A>T (p.Asp192Val) c.845A>T (p.Asp282Val) c.1136A>T (p.Asp379Val) c.689A>T (p.Asp230Val) | |
| 5 | g.161294181T>C | CA362173120 | GABRB2 | c.1439A>G (p.Asp480Gly) c.*784A>G (n.*784A>G) c.1325A>G (p.Asp442Gly) c.1073A>G (p.Asp358Gly) c.575A>G (p.Asp192Gly) c.845A>G (p.Asp282Gly) c.1136A>G (p.Asp379Gly) c.689A>G (p.Asp230Gly) | |
| 5 | g.161294181T>G | CA362173121 | GABRB2 | c.1439A>C (p.Asp480Ala) c.*784A>C (n.*784A>C) c.1325A>C (p.Asp442Ala) c.1073A>C (p.Asp358Ala) c.575A>C (p.Asp192Ala) c.845A>C (p.Asp282Ala) c.1136A>C (p.Asp379Ala) c.689A>C (p.Asp230Ala) | |
| 5 | g.161294182C>A | CA362173124 | GABRB2 | c.1438G>T (p.Asp480Tyr) c.*783G>T (n.*783G>T) c.1324G>T (p.Asp442Tyr) c.1072G>T (p.Asp358Tyr) c.574G>T (p.Asp192Tyr) c.844G>T (p.Asp282Tyr) c.1135G>T (p.Asp379Tyr) c.688G>T (p.Asp230Tyr) | |
| 5 | g.161294182C>G | CA362173125 | GABRB2 | c.1438G>C (p.Asp480His) c.*783G>C (n.*783G>C) c.1324G>C (p.Asp442His) c.1072G>C (p.Asp358His) c.574G>C (p.Asp192His) c.844G>C (p.Asp282His) c.1135G>C (p.Asp379His) c.688G>C (p.Asp230His) | |
| 5 | g.161294182C>T | CA362173122 | GABRB2 | c.1438G>A (p.Asp480Asn) c.*783G>A (n.*783G>A) c.1324G>A (p.Asp442Asn) c.1072G>A (p.Asp358Asn) c.574G>A (p.Asp192Asn) c.844G>A (p.Asp282Asn) c.1135G>A (p.Asp379Asn) c.688G>A (p.Asp230Asn) | |
| 5 | g.161294183A>C | CA447604656 | GABRB2 | c.1437T>G (p.Pro479=) c.*782T>G (n.*782T>G) c.1323T>G (p.Pro441=) c.1071T>G (p.Pro357=) c.573T>G (p.Pro191=) c.843T>G (p.Pro281=) c.1134T>G (p.Pro378=) c.687T>G (p.Pro229=) | |
| 5 | g.161294183A>G | CA447604657 | GABRB2 | c.1437T>C (p.Pro479=) c.*782T>C (n.*782T>C) c.1323T>C (p.Pro441=) c.1071T>C (p.Pro357=) c.573T>C (p.Pro191=) c.843T>C (p.Pro281=) c.1134T>C (p.Pro378=) c.687T>C (p.Pro229=) | |
| 5 | g.161294183A>T | CA447604658 | GABRB2 | c.1437T>A (p.Pro479=) c.*782T>A (n.*782T>A) c.1323T>A (p.Pro441=) c.1071T>A (p.Pro357=) c.573T>A (p.Pro191=) c.843T>A (p.Pro281=) c.1134T>A (p.Pro378=) c.687T>A (p.Pro229=) | |
| 5 | g.161294184G>A | CA362173139 | GABRB2 | c.1436C>T (p.Pro479Leu) c.*781C>T (n.*781C>T) c.1322C>T (p.Pro441Leu) c.1070C>T (p.Pro357Leu) c.572C>T (p.Pro191Leu) c.842C>T (p.Pro281Leu) c.1133C>T (p.Pro378Leu) c.686C>T (p.Pro229Leu) | |
| 5 | g.161294184G>C | CA362173129 | GABRB2 | c.1436C>G (p.Pro479Arg) c.*781C>G (n.*781C>G) c.1322C>G (p.Pro441Arg) c.1070C>G (p.Pro357Arg) c.572C>G (p.Pro191Arg) c.842C>G (p.Pro281Arg) c.1133C>G (p.Pro378Arg) c.686C>G (p.Pro229Arg) | |
| 5 | g.161294184G>T | CA362173132 | GABRB2 | c.1436C>A (p.Pro479His) c.*781C>A (n.*781C>A) c.1322C>A (p.Pro441His) c.1070C>A (p.Pro357His) c.572C>A (p.Pro191His) c.842C>A (p.Pro281His) c.1133C>A (p.Pro378His) c.686C>A (p.Pro229His) | |
| 5 | g.161294185G>A | CA362173142 | GABRB2 | c.1435C>T (p.Pro479Ser) c.*780C>T (n.*780C>T) c.1321C>T (p.Pro441Ser) c.1069C>T (p.Pro357Ser) c.571C>T (p.Pro191Ser) c.841C>T (p.Pro281Ser) c.1132C>T (p.Pro378Ser) c.685C>T (p.Pro229Ser) | |
| 5 | g.161294185G>C | CA362173143 | GABRB2 | c.1435C>G (p.Pro479Ala) c.*780C>G (n.*780C>G) c.1321C>G (p.Pro441Ala) c.1069C>G (p.Pro357Ala) c.571C>G (p.Pro191Ala) c.841C>G (p.Pro281Ala) c.1132C>G (p.Pro378Ala) c.685C>G (p.Pro229Ala) | |
| 5 | g.161294185G>T | CA362173144 | GABRB2 | c.1435C>A (p.Pro479Thr) c.*780C>A (n.*780C>A) c.1321C>A (p.Pro441Thr) c.1069C>A (p.Pro357Thr) c.571C>A (p.Pro191Thr) c.841C>A (p.Pro281Thr) c.1132C>A (p.Pro378Thr) c.685C>A (p.Pro229Thr) | |
| 5 | g.161294186G>A | CA3543318 | GABRB2 | c.1434C>T (p.Ile478=) c.*779C>T (n.*779C>T) c.1320C>T (p.Ile440=) c.1068C>T (p.Ile356=) c.570C>T (p.Ile190=) c.840C>T (p.Ile280=) c.1131C>T (p.Ile377=) c.684C>T (p.Ile228=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161294186G>C | CA362173145 | GABRB2 | c.1434C>G (p.Ile478Met) c.*779C>G (n.*779C>G) c.1320C>G (p.Ile440Met) c.1068C>G (p.Ile356Met) c.570C>G (p.Ile190Met) c.840C>G (p.Ile280Met) c.1131C>G (p.Ile377Met) c.684C>G (p.Ile228Met) | |
| 5 | g.161294186G= | CA1595966699 | GABRB2 | c.1434C= (p.Ile478=) c.*779C= (n.*779C=) c.1320C= (p.Ile440=) c.1068C= (p.Ile356=) c.570C= (p.Ile190=) c.840C= (p.Ile280=) c.1131C= (p.Ile377=) c.684C= (p.Ile228=) | |
| 5 | g.161294186G>T | CA447604659 | GABRB2 | c.1434C>A (p.Ile478=) c.*779C>A (n.*779C>A) c.1320C>A (p.Ile440=) c.1068C>A (p.Ile356=) c.570C>A (p.Ile190=) c.840C>A (p.Ile280=) c.1131C>A (p.Ile377=) c.684C>A (p.Ile228=) | dbSNP |
| 5 | g.161294187A>C | CA362173147 | GABRB2 | c.1433T>G (p.Ile478Ser) c.*778T>G (n.*778T>G) c.1319T>G (p.Ile440Ser) c.1067T>G (p.Ile356Ser) c.569T>G (p.Ile190Ser) c.839T>G (p.Ile280Ser) c.1130T>G (p.Ile377Ser) c.683T>G (p.Ile228Ser) | |
| 5 | g.161294187A>G | CA362173149 | GABRB2 | c.1433T>C (p.Ile478Thr) c.*778T>C (n.*778T>C) c.1319T>C (p.Ile440Thr) c.1067T>C (p.Ile356Thr) c.569T>C (p.Ile190Thr) c.839T>C (p.Ile280Thr) c.1130T>C (p.Ile377Thr) c.683T>C (p.Ile228Thr) | |
| 5 | g.161294187A>T | CA362173151 | GABRB2 | c.1433T>A (p.Ile478Asn) c.*778T>A (n.*778T>A) c.1319T>A (p.Ile440Asn) c.1067T>A (p.Ile356Asn) c.569T>A (p.Ile190Asn) c.839T>A (p.Ile280Asn) c.1130T>A (p.Ile377Asn) c.683T>A (p.Ile228Asn) | |
| 5 | g.161294188T>A | CA362173157 | GABRB2 | c.1432A>T (p.Ile478Phe) c.*777A>T (n.*777A>T) c.1318A>T (p.Ile440Phe) c.1066A>T (p.Ile356Phe) c.568A>T (p.Ile190Phe) c.838A>T (p.Ile280Phe) c.1129A>T (p.Ile377Phe) c.682A>T (p.Ile228Phe) | |
| 5 | g.161294188T>C | CA362173159 | GABRB2 | c.1432A>G (p.Ile478Val) c.*777A>G (n.*777A>G) c.1318A>G (p.Ile440Val) c.1066A>G (p.Ile356Val) c.568A>G (p.Ile190Val) c.838A>G (p.Ile280Val) c.1129A>G (p.Ile377Val) c.682A>G (p.Ile228Val) | gnomAD v4 |
| 5 | g.161294188T>G | CA362173161 | GABRB2 | c.1432A>C (p.Ile478Leu) c.*777A>C (n.*777A>C) c.1318A>C (p.Ile440Leu) c.1066A>C (p.Ile356Leu) c.568A>C (p.Ile190Leu) c.838A>C (p.Ile280Leu) c.1129A>C (p.Ile377Leu) c.682A>C (p.Ile228Leu) | |
| 5 | g.161294189G>A | CA447604660 | GABRB2 | c.1431C>T (p.Thr477=) c.*776C>T (n.*776C>T) c.1317C>T (p.Thr439=) c.1065C>T (p.Thr355=) c.567C>T (p.Thr189=) c.837C>T (p.Thr279=) c.1128C>T (p.Thr376=) c.681C>T (p.Thr227=) | |
| 5 | g.161294189G>C | CA447604661 | GABRB2 | c.1431C>G (p.Thr477=) c.*776C>G (n.*776C>G) c.1317C>G (p.Thr439=) c.1065C>G (p.Thr355=) c.567C>G (p.Thr189=) c.837C>G (p.Thr279=) c.1128C>G (p.Thr376=) c.681C>G (p.Thr227=) | |
| 5 | g.161294189G>T | CA447604662 | GABRB2 | c.1431C>A (p.Thr477=) c.*776C>A (n.*776C>A) c.1317C>A (p.Thr439=) c.1065C>A (p.Thr355=) c.567C>A (p.Thr189=) c.837C>A (p.Thr279=) c.1128C>A (p.Thr376=) c.681C>A (p.Thr227=) | |
| 5 | g.161294190G>A | CA3543319 | GABRB2 | c.1430C>T (p.Thr477Ile) c.*775C>T (n.*775C>T) c.1316C>T (p.Thr439Ile) c.1064C>T (p.Thr355Ile) c.566C>T (p.Thr189Ile) c.836C>T (p.Thr279Ile) c.1127C>T (p.Thr376Ile) c.680C>T (p.Thr227Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.161294190G>C | CA362173162 | GABRB2 | c.1430C>G (p.Thr477Ser) c.*775C>G (n.*775C>G) c.1316C>G (p.Thr439Ser) c.1064C>G (p.Thr355Ser) c.566C>G (p.Thr189Ser) c.836C>G (p.Thr279Ser) c.1127C>G (p.Thr376Ser) c.680C>G (p.Thr227Ser) | |
| 5 | g.161294190G= | CA1595966703 | GABRB2 | c.1430C= (p.Thr477=) c.*775C= (n.*775C=) c.1316C= (p.Thr439=) c.1064C= (p.Thr355=) c.566C= (p.Thr189=) c.836C= (p.Thr279=) c.1127C= (p.Thr376=) c.680C= (p.Thr227=) | |
| 5 | g.161294190G>T | CA362173163 | GABRB2 | c.1430C>A (p.Thr477Asn) c.*775C>A (n.*775C>A) c.1316C>A (p.Thr439Asn) c.1064C>A (p.Thr355Asn) c.566C>A (p.Thr189Asn) c.836C>A (p.Thr279Asn) c.1127C>A (p.Thr376Asn) c.680C>A (p.Thr227Asn) | |
| 5 | g.161294191T>A | CA362173164 | GABRB2 | c.1429A>T (p.Thr477Ser) c.*774A>T (n.*774A>T) c.1315A>T (p.Thr439Ser) c.1063A>T (p.Thr355Ser) c.565A>T (p.Thr189Ser) c.835A>T (p.Thr279Ser) c.1126A>T (p.Thr376Ser) c.679A>T (p.Thr227Ser) | |
| 5 | g.161294191T>C | CA362173165 | GABRB2 | c.1429A>G (p.Thr477Ala) c.*774A>G (n.*774A>G) c.1315A>G (p.Thr439Ala) c.1063A>G (p.Thr355Ala) c.565A>G (p.Thr189Ala) c.835A>G (p.Thr279Ala) c.1126A>G (p.Thr376Ala) c.679A>G (p.Thr227Ala) | gnomAD v4 |
| 5 | g.161294191T>G | CA362173166 | GABRB2 | c.1429A>C (p.Thr477Pro) c.*774A>C (n.*774A>C) c.1315A>C (p.Thr439Pro) c.1063A>C (p.Thr355Pro) c.565A>C (p.Thr189Pro) c.835A>C (p.Thr279Pro) c.1126A>C (p.Thr376Pro) c.679A>C (p.Thr227Pro) | |
| 5 | g.161294192G>A | CA447604663 | GABRB2 | c.1428C>T (p.Ile476=) c.*773C>T (n.*773C>T) c.1314C>T (p.Ile438=) c.1062C>T (p.Ile354=) c.564C>T (p.Ile188=) c.834C>T (p.Ile278=) c.1125C>T (p.Ile375=) c.678C>T (p.Ile226=) | dbSNP gnomAD v4 COSMIC COSMIC |
| 5 | g.161294192G>C | CA362173167 | GABRB2 | c.1428C>G (p.Ile476Met) c.*773C>G (n.*773C>G) c.1314C>G (p.Ile438Met) c.1062C>G (p.Ile354Met) c.564C>G (p.Ile188Met) c.834C>G (p.Ile278Met) c.1125C>G (p.Ile375Met) c.678C>G (p.Ile226Met) | |
| 5 | g.161294192G>T | CA447604664 | GABRB2 | c.1428C>A (p.Ile476=) c.*773C>A (n.*773C>A) c.1314C>A (p.Ile438=) c.1062C>A (p.Ile354=) c.564C>A (p.Ile188=) c.834C>A (p.Ile278=) c.1125C>A (p.Ile375=) c.678C>A (p.Ile226=) | |
| 5 | g.161294193A>C | CA362173168 | GABRB2 | c.1427T>G (p.Ile476Ser) c.*772T>G (n.*772T>G) c.1313T>G (p.Ile438Ser) c.1061T>G (p.Ile354Ser) c.563T>G (p.Ile188Ser) c.833T>G (p.Ile278Ser) c.1124T>G (p.Ile375Ser) c.677T>G (p.Ile226Ser) | |
| 5 | g.161294193A>G | CA362173169 | GABRB2 | c.1427T>C (p.Ile476Thr) c.*772T>C (n.*772T>C) c.1313T>C (p.Ile438Thr) c.1061T>C (p.Ile354Thr) c.563T>C (p.Ile188Thr) c.833T>C (p.Ile278Thr) c.1124T>C (p.Ile375Thr) c.677T>C (p.Ile226Thr) | gnomAD v4 |
| 5 | g.161294193A>T | CA362173170 | GABRB2 | c.1427T>A (p.Ile476Asn) c.*772T>A (n.*772T>A) c.1313T>A (p.Ile438Asn) c.1061T>A (p.Ile354Asn) c.563T>A (p.Ile188Asn) c.833T>A (p.Ile278Asn) c.1124T>A (p.Ile375Asn) c.677T>A (p.Ile226Asn) | |
| 5 | g.161294194T>A | CA362173171 | GABRB2 | c.1426A>T (p.Ile476Phe) c.*771A>T (n.*771A>T) c.1312A>T (p.Ile438Phe) c.1060A>T (p.Ile354Phe) c.562A>T (p.Ile188Phe) c.832A>T (p.Ile278Phe) c.1123A>T (p.Ile375Phe) c.676A>T (p.Ile226Phe) | |
| 5 | g.161294194T>C | CA362173172 | GABRB2 | c.1426A>G (p.Ile476Val) c.*771A>G (n.*771A>G) c.1312A>G (p.Ile438Val) c.1060A>G (p.Ile354Val) c.562A>G (p.Ile188Val) c.832A>G (p.Ile278Val) c.1123A>G (p.Ile375Val) c.676A>G (p.Ile226Val) | gnomAD v4 |
| 5 | g.161294194T>G | CA362173173 | GABRB2 | c.1426A>C (p.Ile476Leu) c.*771A>C (n.*771A>C) c.1312A>C (p.Ile438Leu) c.1060A>C (p.Ile354Leu) c.562A>C (p.Ile188Leu) c.832A>C (p.Ile278Leu) c.1123A>C (p.Ile375Leu) c.676A>C (p.Ile226Leu) | |
| 5 | g.161294195T>A | CA362173174 | GABRB2 | c.1425A>T (p.Lys475Asn) c.*770A>T (n.*770A>T) c.1311A>T (p.Lys437Asn) c.1059A>T (p.Lys353Asn) c.561A>T (p.Lys187Asn) c.831A>T (p.Lys277Asn) c.1122A>T (p.Lys374Asn) c.675A>T (p.Lys225Asn) | |
| 5 | g.161294195T>C | CA447604665 | GABRB2 | c.1425A>G (p.Lys475=) c.*770A>G (n.*770A>G) c.1311A>G (p.Lys437=) c.1059A>G (p.Lys353=) c.561A>G (p.Lys187=) c.831A>G (p.Lys277=) c.1122A>G (p.Lys374=) c.675A>G (p.Lys225=) | gnomAD v4 |
| 5 | g.161294195T>G | CA362173175 | GABRB2 | c.1425A>C (p.Lys475Asn) c.*770A>C (n.*770A>C) c.1311A>C (p.Lys437Asn) c.1059A>C (p.Lys353Asn) c.561A>C (p.Lys187Asn) c.831A>C (p.Lys277Asn) c.1122A>C (p.Lys374Asn) c.675A>C (p.Lys225Asn) | |
| 5 | g.161294196T>A | CA362173178 | GABRB2 | c.1424A>T (p.Lys475Ile) c.*769A>T (n.*769A>T) c.1310A>T (p.Lys437Ile) c.1058A>T (p.Lys353Ile) c.560A>T (p.Lys187Ile) c.830A>T (p.Lys277Ile) c.1121A>T (p.Lys374Ile) c.674A>T (p.Lys225Ile) | |
| 5 | g.161294196T>C | CA362173177 | GABRB2 | c.1424A>G (p.Lys475Arg) c.*769A>G (n.*769A>G) c.1310A>G (p.Lys437Arg) c.1058A>G (p.Lys353Arg) c.560A>G (p.Lys187Arg) c.830A>G (p.Lys277Arg) c.1121A>G (p.Lys374Arg) c.674A>G (p.Lys225Arg) | |
| 5 | g.161294196T>G | CA362173176 | GABRB2 | c.1424A>C (p.Lys475Thr) c.*769A>C (n.*769A>C) c.1310A>C (p.Lys437Thr) c.1058A>C (p.Lys353Thr) c.560A>C (p.Lys187Thr) c.830A>C (p.Lys277Thr) c.1121A>C (p.Lys374Thr) c.674A>C (p.Lys225Thr) | |
| 5 | g.161294197T>A | CA362173181 | GABRB2 | c.1423A>T (p.Lys475Ter) c.*768A>T (n.*768A>T) c.1309A>T (p.Lys437Ter) c.1057A>T (p.Lys353Ter) c.559A>T (p.Lys187Ter) c.829A>T (p.Lys277Ter) c.1120A>T (p.Lys374Ter) c.673A>T (p.Lys225Ter) | |
| 5 | g.161294197T>C | CA362173179 | GABRB2 | c.1423A>G (p.Lys475Glu) c.*768A>G (n.*768A>G) c.1309A>G (p.Lys437Glu) c.1057A>G (p.Lys353Glu) c.559A>G (p.Lys187Glu) c.829A>G (p.Lys277Glu) c.1120A>G (p.Lys374Glu) c.673A>G (p.Lys225Glu) | |
| 5 | g.161294197T>G | CA362173180 | GABRB2 | c.1423A>C (p.Lys475Gln) c.*768A>C (n.*768A>C) c.1309A>C (p.Lys437Gln) c.1057A>C (p.Lys353Gln) c.559A>C (p.Lys187Gln) c.829A>C (p.Lys277Gln) c.1120A>C (p.Lys374Gln) c.673A>C (p.Lys225Gln) | |
| 5 | g.161294198C>A | CA447604666 | GABRB2 | c.1422G>T (p.Leu474=) c.*767G>T (n.*767G>T) c.1308G>T (p.Leu436=) c.1056G>T (p.Leu352=) c.558G>T (p.Leu186=) c.828G>T (p.Leu276=) c.1119G>T (p.Leu373=) c.672G>T (p.Leu224=) | |
| 5 | g.161294198C>G | CA447604667 | GABRB2 | c.1422G>C (p.Leu474=) c.*767G>C (n.*767G>C) c.1308G>C (p.Leu436=) c.1056G>C (p.Leu352=) c.558G>C (p.Leu186=) c.828G>C (p.Leu276=) c.1119G>C (p.Leu373=) c.672G>C (p.Leu224=) | |
| 5 | g.161294198C>T | CA447604668 | GABRB2 | c.1422G>A (p.Leu474=) c.*767G>A (n.*767G>A) c.1308G>A (p.Leu436=) c.1056G>A (p.Leu352=) c.558G>A (p.Leu186=) c.828G>A (p.Leu276=) c.1119G>A (p.Leu373=) c.672G>A (p.Leu224=) | COSMIC COSMIC |
| 5 | g.161294199A>C | CA362173182 | GABRB2 | c.1421T>G (p.Leu474Arg) c.*766T>G (n.*766T>G) c.1307T>G (p.Leu436Arg) c.1055T>G (p.Leu352Arg) c.557T>G (p.Leu186Arg) c.827T>G (p.Leu276Arg) c.1118T>G (p.Leu373Arg) c.671T>G (p.Leu224Arg) | gnomAD v4 |
| 5 | g.161294199A>G | CA362173183 | GABRB2 | c.1421T>C (p.Leu474Pro) c.*766T>C (n.*766T>C) c.1307T>C (p.Leu436Pro) c.1055T>C (p.Leu352Pro) c.557T>C (p.Leu186Pro) c.827T>C (p.Leu276Pro) c.1118T>C (p.Leu373Pro) c.671T>C (p.Leu224Pro) | |
| 5 | g.161294199A>T | CA362173184 | GABRB2 | c.1421T>A (p.Leu474Gln) c.*766T>A (n.*766T>A) c.1307T>A (p.Leu436Gln) c.1055T>A (p.Leu352Gln) c.557T>A (p.Leu186Gln) c.827T>A (p.Leu276Gln) c.1118T>A (p.Leu373Gln) c.671T>A (p.Leu224Gln) | |
| 5 | g.161294200G>A | CA447604670 | GABRB2 | c.1420C>T (p.Leu474=) c.*765C>T (n.*765C>T) c.1306C>T (p.Leu436=) c.1054C>T (p.Leu352=) c.556C>T (p.Leu186=) c.826C>T (p.Leu276=) c.1117C>T (p.Leu373=) c.670C>T (p.Leu224=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.161294200G>C | CA362173185 | GABRB2 | c.1420C>G (p.Leu474Val) c.*765C>G (n.*765C>G) c.1306C>G (p.Leu436Val) c.1054C>G (p.Leu352Val) c.556C>G (p.Leu186Val) c.826C>G (p.Leu276Val) c.1117C>G (p.Leu373Val) c.670C>G (p.Leu224Val) | |
| 5 | g.161294200G= | CA1595966708 | GABRB2 | c.1420C= (p.Leu474=) c.*765C= (n.*765C=) c.1306C= (p.Leu436=) c.1054C= (p.Leu352=) c.556C= (p.Leu186=) c.826C= (p.Leu276=) c.1117C= (p.Leu373=) c.670C= (p.Leu224=) | |
| 5 | g.161294200G>T | CA362173186 | GABRB2 | c.1420C>A (p.Leu474Met) c.*765C>A (n.*765C>A) c.1306C>A (p.Leu436Met) c.1054C>A (p.Leu352Met) c.556C>A (p.Leu186Met) c.826C>A (p.Leu276Met) c.1117C>A (p.Leu373Met) c.670C>A (p.Leu224Met) | |
| 5 | g.161294201T>A | CA362173187 | GABRB2 | c.1419A>T (p.Gln473His) c.*764A>T (n.*764A>T) c.1305A>T (p.Gln435His) c.1053A>T (p.Gln351His) c.555A>T (p.Gln185His) c.825A>T (p.Gln275His) c.1116A>T (p.Gln372His) c.669A>T (p.Gln223His) | |
| 5 | g.161294201T>C | CA3543320 | GABRB2 | c.1419A>G (p.Gln473=) c.*764A>G (n.*764A>G) c.1305A>G (p.Gln435=) c.1053A>G (p.Gln351=) c.555A>G (p.Gln185=) c.825A>G (p.Gln275=) c.1116A>G (p.Gln372=) c.669A>G (p.Gln223=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161294201T>G | CA362173188 | GABRB2 | c.1419A>C (p.Gln473His) c.*764A>C (n.*764A>C) c.1305A>C (p.Gln435His) c.1053A>C (p.Gln351His) c.555A>C (p.Gln185His) c.825A>C (p.Gln275His) c.1116A>C (p.Gln372His) c.669A>C (p.Gln223His) | |
| 5 | g.161294201T= | CA1595966710 | GABRB2 | c.1419A= (p.Gln473=) c.*764A= (n.*764A=) c.1305A= (p.Gln435=) c.1053A= (p.Gln351=) c.555A= (p.Gln185=) c.825A= (p.Gln275=) c.1116A= (p.Gln372=) c.669A= (p.Gln223=) | |
| 5 | g.161294202T>A | CA362173189 | GABRB2 | c.1418A>T (p.Gln473Leu) c.*763A>T (n.*763A>T) c.1304A>T (p.Gln435Leu) c.1052A>T (p.Gln351Leu) c.554A>T (p.Gln185Leu) c.824A>T (p.Gln275Leu) c.1115A>T (p.Gln372Leu) c.668A>T (p.Gln223Leu) | |
| 5 | g.161294202T>C | CA362173190 | GABRB2 | c.1418A>G (p.Gln473Arg) c.*763A>G (n.*763A>G) c.1304A>G (p.Gln435Arg) c.1052A>G (p.Gln351Arg) c.554A>G (p.Gln185Arg) c.824A>G (p.Gln275Arg) c.1115A>G (p.Gln372Arg) c.668A>G (p.Gln223Arg) | gnomAD v4 |
| 5 | g.161294202T>G | CA362173191 | GABRB2 | c.1418A>C (p.Gln473Pro) c.*763A>C (n.*763A>C) c.1304A>C (p.Gln435Pro) c.1052A>C (p.Gln351Pro) c.554A>C (p.Gln185Pro) c.824A>C (p.Gln275Pro) c.1115A>C (p.Gln372Pro) c.668A>C (p.Gln223Pro) | |
| 5 | g.161294203G>A | CA362173194 | GABRB2 | c.1417C>T (p.Gln473Ter) c.*762C>T (n.*762C>T) c.1303C>T (p.Gln435Ter) c.1051C>T (p.Gln351Ter) c.553C>T (p.Gln185Ter) c.823C>T (p.Gln275Ter) c.1114C>T (p.Gln372Ter) c.667C>T (p.Gln223Ter) | |
| 5 | g.161294203G>C | CA362173192 | GABRB2 | c.1417C>G (p.Gln473Glu) c.*762C>G (n.*762C>G) c.1303C>G (p.Gln435Glu) c.1051C>G (p.Gln351Glu) c.553C>G (p.Gln185Glu) c.823C>G (p.Gln275Glu) c.1114C>G (p.Gln372Glu) c.667C>G (p.Gln223Glu) | |
| 5 | g.161294203G>T | CA362173193 | GABRB2 | c.1417C>A (p.Gln473Lys) c.*762C>A (n.*762C>A) c.1303C>A (p.Gln435Lys) c.1051C>A (p.Gln351Lys) c.553C>A (p.Gln185Lys) c.823C>A (p.Gln275Lys) c.1114C>A (p.Gln372Lys) c.667C>A (p.Gln223Lys) | |
| 5 | g.161294204G>A | CA447604671 | GABRB2 | c.1416C>T (p.Ser472=) c.*761C>T (n.*761C>T) c.1302C>T (p.Ser434=) c.1050C>T (p.Ser350=) c.552C>T (p.Ser184=) c.822C>T (p.Ser274=) c.1113C>T (p.Ser371=) c.666C>T (p.Ser222=) | |
| 5 | g.161294204G>C | CA447604672 | GABRB2 | c.1416C>G (p.Ser472=) c.*761C>G (n.*761C>G) c.1302C>G (p.Ser434=) c.1050C>G (p.Ser350=) c.552C>G (p.Ser184=) c.822C>G (p.Ser274=) c.1113C>G (p.Ser371=) c.666C>G (p.Ser222=) | |
| 5 | g.161294204G>T | CA447604673 | GABRB2 | c.1416C>A (p.Ser472=) c.*761C>A (n.*761C>A) c.1302C>A (p.Ser434=) c.1050C>A (p.Ser350=) c.552C>A (p.Ser184=) c.822C>A (p.Ser274=) c.1113C>A (p.Ser371=) c.666C>A (p.Ser222=) | |
| 5 | g.161294205G>A | CA362173195 | GABRB2 | c.1415C>T (p.Ser472Phe) c.*760C>T (n.*760C>T) c.1301C>T (p.Ser434Phe) c.1049C>T (p.Ser350Phe) c.551C>T (p.Ser184Phe) c.821C>T (p.Ser274Phe) c.1112C>T (p.Ser371Phe) c.665C>T (p.Ser222Phe) | |
| 5 | g.161294205G>C | CA362173196 | GABRB2 | c.1415C>G (p.Ser472Cys) c.*760C>G (n.*760C>G) c.1301C>G (p.Ser434Cys) c.1049C>G (p.Ser350Cys) c.551C>G (p.Ser184Cys) c.821C>G (p.Ser274Cys) c.1112C>G (p.Ser371Cys) c.665C>G (p.Ser222Cys) | |
| 5 | g.161294205G>T | CA362173197 | GABRB2 | c.1415C>A (p.Ser472Tyr) c.*760C>A (n.*760C>A) c.1301C>A (p.Ser434Tyr) c.1049C>A (p.Ser350Tyr) c.551C>A (p.Ser184Tyr) c.821C>A (p.Ser274Tyr) c.1112C>A (p.Ser371Tyr) c.665C>A (p.Ser222Tyr) | |
| 5 | g.161294206A>C | CA362173198 | GABRB2 | c.1414T>G (p.Ser472Ala) c.*759T>G (n.*759T>G) c.1300T>G (p.Ser434Ala) c.1048T>G (p.Ser350Ala) c.550T>G (p.Ser184Ala) c.820T>G (p.Ser274Ala) c.1111T>G (p.Ser371Ala) c.664T>G (p.Ser222Ala) | |
| 5 | g.161294206A>G | CA362173199 | GABRB2 | c.1414T>C (p.Ser472Pro) c.*759T>C (n.*759T>C) c.1300T>C (p.Ser434Pro) c.1048T>C (p.Ser350Pro) c.550T>C (p.Ser184Pro) c.820T>C (p.Ser274Pro) c.1111T>C (p.Ser371Pro) c.664T>C (p.Ser222Pro) | |
| 5 | g.161294206A>T | CA362173200 | GABRB2 | c.1414T>A (p.Ser472Thr) c.*759T>A (n.*759T>A) c.1300T>A (p.Ser434Thr) c.1048T>A (p.Ser350Thr) c.550T>A (p.Ser184Thr) c.820T>A (p.Ser274Thr) c.1111T>A (p.Ser371Thr) c.664T>A (p.Ser222Thr) | |
| 5 | g.161294207G>A | CA447604677 | GABRB2 | c.1413C>T (p.Ala471=) c.*758C>T (n.*758C>T) c.1299C>T (p.Ala433=) c.1047C>T (p.Ala349=) c.549C>T (p.Ala183=) c.819C>T (p.Ala273=) c.1110C>T (p.Ala370=) c.663C>T (p.Ala221=) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.161294207G>C | CA447604676 | GABRB2 | c.1413C>G (p.Ala471=) c.*758C>G (n.*758C>G) c.1299C>G (p.Ala433=) c.1047C>G (p.Ala349=) c.549C>G (p.Ala183=) c.819C>G (p.Ala273=) c.1110C>G (p.Ala370=) c.663C>G (p.Ala221=) | dbSNP |
| 5 | g.161294207G= | CA1595966712 | GABRB2 | c.1413C= (p.Ala471=) c.*758C= (n.*758C=) c.1299C= (p.Ala433=) c.1047C= (p.Ala349=) c.549C= (p.Ala183=) c.819C= (p.Ala273=) c.1110C= (p.Ala370=) c.663C= (p.Ala221=) | |
| 5 | g.161294207G>T | CA447604675 | GABRB2 | c.1413C>A (p.Ala471=) c.*758C>A (n.*758C>A) c.1299C>A (p.Ala433=) c.1047C>A (p.Ala349=) c.549C>A (p.Ala183=) c.819C>A (p.Ala273=) c.1110C>A (p.Ala370=) c.663C>A (p.Ala221=) | |
| 5 | g.161294208G>A | CA362173201 | GABRB2 | c.1412C>T (p.Ala471Val) c.*757C>T (n.*757C>T) c.1298C>T (p.Ala433Val) c.1046C>T (p.Ala349Val) c.548C>T (p.Ala183Val) c.818C>T (p.Ala273Val) c.1109C>T (p.Ala370Val) c.662C>T (p.Ala221Val) | gnomAD v4 |
| 5 | g.161294208G>C | CA362173202 | GABRB2 | c.1412C>G (p.Ala471Gly) c.*757C>G (n.*757C>G) c.1298C>G (p.Ala433Gly) c.1046C>G (p.Ala349Gly) c.548C>G (p.Ala183Gly) c.818C>G (p.Ala273Gly) c.1109C>G (p.Ala370Gly) c.662C>G (p.Ala221Gly) | |
| 5 | g.161294208G>T | CA362173203 | GABRB2 | c.1412C>A (p.Ala471Asp) c.*757C>A (n.*757C>A) c.1298C>A (p.Ala433Asp) c.1046C>A (p.Ala349Asp) c.548C>A (p.Ala183Asp) c.818C>A (p.Ala273Asp) c.1109C>A (p.Ala370Asp) c.662C>A (p.Ala221Asp) | |
| 5 | g.161294209C>A | CA362173204 | GABRB2 | c.1411G>T (p.Ala471Ser) c.*756G>T (n.*756G>T) c.1297G>T (p.Ala433Ser) c.1045G>T (p.Ala349Ser) c.547G>T (p.Ala183Ser) c.817G>T (p.Ala273Ser) c.1108G>T (p.Ala370Ser) c.661G>T (p.Ala221Ser) | ClinVar COSMIC COSMIC |
| 5 | g.161294209C= | CA1595966716 | GABRB2 | c.1411G= (p.Ala471=) c.*756G= (n.*756G=) c.1297G= (p.Ala433=) c.1045G= (p.Ala349=) c.547G= (p.Ala183=) c.817G= (p.Ala273=) c.1108G= (p.Ala370=) c.661G= (p.Ala221=) | |
| 5 | g.161294209C>G | CA362173205 | GABRB2 | c.1411G>C (p.Ala471Pro) c.*756G>C (n.*756G>C) c.1297G>C (p.Ala433Pro) c.1045G>C (p.Ala349Pro) c.547G>C (p.Ala183Pro) c.817G>C (p.Ala273Pro) c.1108G>C (p.Ala370Pro) c.661G>C (p.Ala221Pro) | |
| 5 | g.161294209C>T | CA3543321 | GABRB2 | c.1411G>A (p.Ala471Thr) c.*756G>A (n.*756G>A) c.1297G>A (p.Ala433Thr) c.1045G>A (p.Ala349Thr) c.547G>A (p.Ala183Thr) c.817G>A (p.Ala273Thr) c.1108G>A (p.Ala370Thr) c.661G>A (p.Ala221Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161294210G>A | CA131016122 | GABRB2 | c.1410C>T (p.Arg470=) c.*755C>T (n.*755C>T) c.1296C>T (p.Arg432=) c.1044C>T (p.Arg348=) c.546C>T (p.Arg182=) c.816C>T (p.Arg272=) c.1107C>T (p.Arg369=) c.660C>T (p.Arg220=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161294210G>C | CA447604679 | GABRB2 | c.1410C>G (p.Arg470=) c.*755C>G (n.*755C>G) c.1296C>G (p.Arg432=) c.1044C>G (p.Arg348=) c.546C>G (p.Arg182=) c.816C>G (p.Arg272=) c.1107C>G (p.Arg369=) c.660C>G (p.Arg220=) | |
| 5 | g.161294210G= | CA1595966721 | GABRB2 | c.1410C= (p.Arg470=) c.*755C= (n.*755C=) c.1296C= (p.Arg432=) c.1044C= (p.Arg348=) c.546C= (p.Arg182=) c.816C= (p.Arg272=) c.1107C= (p.Arg369=) c.660C= (p.Arg220=) | |
| 5 | g.161294210G>T | CA447604678 | GABRB2 | c.1410C>A (p.Arg470=) c.*755C>A (n.*755C>A) c.1296C>A (p.Arg432=) c.1044C>A (p.Arg348=) c.546C>A (p.Arg182=) c.816C>A (p.Arg272=) c.1107C>A (p.Arg369=) c.660C>A (p.Arg220=) | |
| 5 | g.161294211C>A | CA362173207 | GABRB2 | c.1409G>T (p.Arg470Leu) c.*754G>T (n.*754G>T) c.1295G>T (p.Arg432Leu) c.1043G>T (p.Arg348Leu) c.545G>T (p.Arg182Leu) c.815G>T (p.Arg272Leu) c.1106G>T (p.Arg369Leu) c.659G>T (p.Arg220Leu) | |
| 5 | g.161294211C= | CA1595966728 | GABRB2 | c.1409G= (p.Arg470=) c.*754G= (n.*754G=) c.1295G= (p.Arg432=) c.1043G= (p.Arg348=) c.545G= (p.Arg182=) c.815G= (p.Arg272=) c.1106G= (p.Arg369=) c.659G= (p.Arg220=) | |
| 5 | g.161294211C>G | CA362173208 | GABRB2 | c.1409G>C (p.Arg470Pro) c.*754G>C (n.*754G>C) c.1295G>C (p.Arg432Pro) c.1043G>C (p.Arg348Pro) c.545G>C (p.Arg182Pro) c.815G>C (p.Arg272Pro) c.1106G>C (p.Arg369Pro) c.659G>C (p.Arg220Pro) | |
| 5 | g.161294211C>T | CA362173206 | GABRB2 | c.1409G>A (p.Arg470His) c.*754G>A (n.*754G>A) c.1295G>A (p.Arg432His) c.1043G>A (p.Arg348His) c.545G>A (p.Arg182His) c.815G>A (p.Arg272His) c.1106G>A (p.Arg369His) c.659G>A (p.Arg220His) | dbSNP gnomAD v4 |
| 5 | g.161294212G>A | CA3543322 | GABRB2 | c.1408C>T (p.Arg470Cys) c.*753C>T (n.*753C>T) c.1294C>T (p.Arg432Cys) c.1042C>T (p.Arg348Cys) c.544C>T (p.Arg182Cys) c.814C>T (p.Arg272Cys) c.1105C>T (p.Arg369Cys) c.658C>T (p.Arg220Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.161294212G>C | CA362173210 | GABRB2 | c.1408C>G (p.Arg470Gly) c.*753C>G (n.*753C>G) c.1294C>G (p.Arg432Gly) c.1042C>G (p.Arg348Gly) c.544C>G (p.Arg182Gly) c.814C>G (p.Arg272Gly) c.1105C>G (p.Arg369Gly) c.658C>G (p.Arg220Gly) | gnomAD v4 |
| 5 | g.161294212G= | CA1595966734 | GABRB2 | c.1408C= (p.Arg470=) c.*753C= (n.*753C=) c.1294C= (p.Arg432=) c.1042C= (p.Arg348=) c.544C= (p.Arg182=) c.814C= (p.Arg272=) c.1105C= (p.Arg369=) c.658C= (p.Arg220=) | |
| 5 | g.161294212G>T | CA362173209 | GABRB2 | c.1408C>A (p.Arg470Ser) c.*753C>A (n.*753C>A) c.1294C>A (p.Arg432Ser) c.1042C>A (p.Arg348Ser) c.544C>A (p.Arg182Ser) c.814C>A (p.Arg272Ser) c.1105C>A (p.Arg369Ser) c.658C>A (p.Arg220Ser) | |
| 5 | g.161294213T>A | CA362173211 | GABRB2 | c.1407A>T (p.Arg469Ser) c.*752A>T (n.*752A>T) c.1293A>T (p.Arg431Ser) c.1041A>T (p.Arg347Ser) c.543A>T (p.Arg181Ser) c.813A>T (p.Arg271Ser) c.1104A>T (p.Arg368Ser) c.657A>T (p.Arg219Ser) | |
| 5 | g.161294213T>C | CA447604680 | GABRB2 | c.1407A>G (p.Arg469=) c.*752A>G (n.*752A>G) c.1293A>G (p.Arg431=) c.1041A>G (p.Arg347=) c.543A>G (p.Arg181=) c.813A>G (p.Arg271=) c.1104A>G (p.Arg368=) c.657A>G (p.Arg219=) | dbSNP |
| 5 | g.161294213T>G | CA362173212 | GABRB2 | c.1407A>C (p.Arg469Ser) c.*752A>C (n.*752A>C) c.1293A>C (p.Arg431Ser) c.1041A>C (p.Arg347Ser) c.543A>C (p.Arg181Ser) c.813A>C (p.Arg271Ser) c.1104A>C (p.Arg368Ser) c.657A>C (p.Arg219Ser) | |
| 5 | g.161294214C>A | CA362173213 | GABRB2 | c.1406G>T (p.Arg469Ile) c.*751G>T (n.*751G>T) c.1292G>T (p.Arg431Ile) c.1040G>T (p.Arg347Ile) c.542G>T (p.Arg181Ile) c.812G>T (p.Arg271Ile) c.1103G>T (p.Arg368Ile) c.656G>T (p.Arg219Ile) | |
| 5 | g.161294214C>G | CA362173214 | GABRB2 | c.1406G>C (p.Arg469Thr) c.*751G>C (n.*751G>C) c.1292G>C (p.Arg431Thr) c.1040G>C (p.Arg347Thr) c.542G>C (p.Arg181Thr) c.812G>C (p.Arg271Thr) c.1103G>C (p.Arg368Thr) c.656G>C (p.Arg219Thr) | |
| 5 | g.161294214C>T | CA362173215 | GABRB2 | c.1406G>A (p.Arg469Lys) c.*751G>A (n.*751G>A) c.1292G>A (p.Arg431Lys) c.1040G>A (p.Arg347Lys) c.542G>A (p.Arg181Lys) c.812G>A (p.Arg271Lys) c.1103G>A (p.Arg368Lys) c.656G>A (p.Arg219Lys) | |
| 5 | g.161294215T>A | CA362173216 | GABRB2 | c.1405A>T (p.Arg469Ter) c.*750A>T (n.*750A>T) c.1291A>T (p.Arg431Ter) c.1039A>T (p.Arg347Ter) c.541A>T (p.Arg181Ter) c.811A>T (p.Arg271Ter) c.1102A>T (p.Arg368Ter) c.655A>T (p.Arg219Ter) | |
| 5 | g.161294215T>C | CA362173217 | GABRB2 | c.1405A>G (p.Arg469Gly) c.*750A>G (n.*750A>G) c.1291A>G (p.Arg431Gly) c.1039A>G (p.Arg347Gly) c.541A>G (p.Arg181Gly) c.811A>G (p.Arg271Gly) c.1102A>G (p.Arg368Gly) c.655A>G (p.Arg219Gly) | |
| 5 | g.161294215T>G | CA447604681 | GABRB2 | c.1405A>C (p.Arg469=) c.*750A>C (n.*750A>C) c.1291A>C (p.Arg431=) c.1039A>C (p.Arg347=) c.541A>C (p.Arg181=) c.811A>C (p.Arg271=) c.1102A>C (p.Arg368=) c.655A>C (p.Arg219=) | |
| 5 | g.161294216C>A | CA362173218 | GABRB2 | c.1404G>T (p.Arg468Ser) c.*749G>T (n.*749G>T) c.1290G>T (p.Arg430Ser) c.1038G>T (p.Arg346Ser) c.540G>T (p.Arg180Ser) c.810G>T (p.Arg270Ser) c.1101G>T (p.Arg367Ser) c.654G>T (p.Arg218Ser) | |
| 5 | g.161294216C>G | CA362173219 | GABRB2 | c.1404G>C (p.Arg468Ser) c.*749G>C (n.*749G>C) c.1290G>C (p.Arg430Ser) c.1038G>C (p.Arg346Ser) c.540G>C (p.Arg180Ser) c.810G>C (p.Arg270Ser) c.1101G>C (p.Arg367Ser) c.654G>C (p.Arg218Ser) | COSMIC COSMIC |
| 5 | g.161294216C>T | CA447604682 | GABRB2 | c.1404G>A (p.Arg468=) c.*749G>A (n.*749G>A) c.1290G>A (p.Arg430=) c.1038G>A (p.Arg346=) c.540G>A (p.Arg180=) c.810G>A (p.Arg270=) c.1101G>A (p.Arg367=) c.654G>A (p.Arg218=) | |
| 5 | g.161294217C>A | CA362173220 | GABRB2 | c.1403G>T (p.Arg468Met) c.*748G>T (n.*748G>T) c.1289G>T (p.Arg430Met) c.1037G>T (p.Arg346Met) c.539G>T (p.Arg180Met) c.809G>T (p.Arg270Met) c.1100G>T (p.Arg367Met) c.653G>T (p.Arg218Met) | |
| 5 | g.161294217C>G | CA362173221 | GABRB2 | c.1403G>C (p.Arg468Thr) c.*748G>C (n.*748G>C) c.1289G>C (p.Arg430Thr) c.1037G>C (p.Arg346Thr) c.539G>C (p.Arg180Thr) c.809G>C (p.Arg270Thr) c.1100G>C (p.Arg367Thr) c.653G>C (p.Arg218Thr) | |
| 5 | g.161294217C>T | CA362173222 | GABRB2 | c.1403G>A (p.Arg468Lys) c.*748G>A (n.*748G>A) c.1289G>A (p.Arg430Lys) c.1037G>A (p.Arg346Lys) c.539G>A (p.Arg180Lys) c.809G>A (p.Arg270Lys) c.1100G>A (p.Arg367Lys) c.653G>A (p.Arg218Lys) | dbSNP |
| 5 | g.161294218T>A | CA362173224 | GABRB2 | c.1402A>T (p.Arg468Trp) c.*747A>T (n.*747A>T) c.1288A>T (p.Arg430Trp) c.1036A>T (p.Arg346Trp) c.538A>T (p.Arg180Trp) c.808A>T (p.Arg270Trp) c.1099A>T (p.Arg367Trp) c.652A>T (p.Arg218Trp) | |
| 5 | g.161294218T>C | CA362173223 | GABRB2 | c.1402A>G (p.Arg468Gly) c.*747A>G (n.*747A>G) c.1288A>G (p.Arg430Gly) c.1036A>G (p.Arg346Gly) c.538A>G (p.Arg180Gly) c.808A>G (p.Arg270Gly) c.1099A>G (p.Arg367Gly) c.652A>G (p.Arg218Gly) | |
| 5 | g.161294218T>G | CA447604683 | GABRB2 | c.1402A>C (p.Arg468=) c.*747A>C (n.*747A>C) c.1288A>C (p.Arg430=) c.1036A>C (p.Arg346=) c.538A>C (p.Arg180=) c.808A>C (p.Arg270=) c.1099A>C (p.Arg367=) c.652A>C (p.Arg218=) | |
| 5 | g.161294219C>A | CA447604684 | GABRB2 | c.1401G>T (p.Leu467=) c.*746G>T (n.*746G>T) c.1287G>T (p.Leu429=) c.1035G>T (p.Leu345=) c.537G>T (p.Leu179=) c.807G>T (p.Leu269=) c.1098G>T (p.Leu366=) c.651G>T (p.Leu217=) | |
| 5 | g.161294219C= | CA1595966736 | GABRB2 | c.1401G= (p.Leu467=) c.*746G= (n.*746G=) c.1287G= (p.Leu429=) c.1035G= (p.Leu345=) c.537G= (p.Leu179=) c.807G= (p.Leu269=) c.1098G= (p.Leu366=) c.651G= (p.Leu217=) | |
| 5 | g.161294219C>G | CA447604685 | GABRB2 | c.1401G>C (p.Leu467=) c.*746G>C (n.*746G>C) c.1287G>C (p.Leu429=) c.1035G>C (p.Leu345=) c.537G>C (p.Leu179=) c.807G>C (p.Leu269=) c.1098G>C (p.Leu366=) c.651G>C (p.Leu217=) | |
| 5 | g.161294219C>T | CA3543323 | GABRB2 | c.1401G>A (p.Leu467=) c.*746G>A (n.*746G>A) c.1287G>A (p.Leu429=) c.1035G>A (p.Leu345=) c.537G>A (p.Leu179=) c.807G>A (p.Leu269=) c.1098G>A (p.Leu366=) c.651G>A (p.Leu217=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161294220A>C | CA362173225 | GABRB2 | c.1400T>G (p.Leu467Arg) c.*745T>G (n.*745T>G) c.1286T>G (p.Leu429Arg) c.1034T>G (p.Leu345Arg) c.536T>G (p.Leu179Arg) c.806T>G (p.Leu269Arg) c.1097T>G (p.Leu366Arg) c.650T>G (p.Leu217Arg) | |
| 5 | g.161294220A>G | CA362173226 | GABRB2 | c.1400T>C (p.Leu467Pro) c.*745T>C (n.*745T>C) c.1286T>C (p.Leu429Pro) c.1034T>C (p.Leu345Pro) c.536T>C (p.Leu179Pro) c.806T>C (p.Leu269Pro) c.1097T>C (p.Leu366Pro) c.650T>C (p.Leu217Pro) | |
| 5 | g.161294220A>T | CA362173227 | GABRB2 | c.1400T>A (p.Leu467Gln) c.*745T>A (n.*745T>A) c.1286T>A (p.Leu429Gln) c.1034T>A (p.Leu345Gln) c.536T>A (p.Leu179Gln) c.806T>A (p.Leu269Gln) c.1097T>A (p.Leu366Gln) c.650T>A (p.Leu217Gln) | |
| 5 | g.161294221G>A | CA447604686 | GABRB2 | c.1399C>T (p.Leu467=) c.*744C>T (n.*744C>T) c.1285C>T (p.Leu429=) c.1033C>T (p.Leu345=) c.535C>T (p.Leu179=) c.805C>T (p.Leu269=) c.1096C>T (p.Leu366=) c.649C>T (p.Leu217=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.161294221G>C | CA362173228 | GABRB2 | c.1399C>G (p.Leu467Val) c.*744C>G (n.*744C>G) c.1285C>G (p.Leu429Val) c.1033C>G (p.Leu345Val) c.535C>G (p.Leu179Val) c.805C>G (p.Leu269Val) c.1096C>G (p.Leu366Val) c.649C>G (p.Leu217Val) | |
| 5 | g.161294221G>T | CA362173229 | GABRB2 | c.1399C>A (p.Leu467Met) c.*744C>A (n.*744C>A) c.1285C>A (p.Leu429Met) c.1033C>A (p.Leu345Met) c.535C>A (p.Leu179Met) c.805C>A (p.Leu269Met) c.1096C>A (p.Leu366Met) c.649C>A (p.Leu217Met) | dbSNP |
| 5 | g.161294222G>A | CA447604687 | GABRB2 | c.1398C>T (p.Arg466=) c.*743C>T (n.*743C>T) c.1284C>T (p.Arg428=) c.1032C>T (p.Arg344=) c.534C>T (p.Arg178=) c.804C>T (p.Arg268=) c.1095C>T (p.Arg365=) c.648C>T (p.Arg216=) | ClinVar dbSNP |
| 5 | g.161294222G>C | CA447604688 | GABRB2 | c.1398C>G (p.Arg466=) c.*743C>G (n.*743C>G) c.1284C>G (p.Arg428=) c.1032C>G (p.Arg344=) c.534C>G (p.Arg178=) c.804C>G (p.Arg268=) c.1095C>G (p.Arg365=) c.648C>G (p.Arg216=) | |
| 5 | g.161294222G>T | CA447604689 | GABRB2 | c.1398C>A (p.Arg466=) c.*743C>A (n.*743C>A) c.1284C>A (p.Arg428=) c.1032C>A (p.Arg344=) c.534C>A (p.Arg178=) c.804C>A (p.Arg268=) c.1095C>A (p.Arg365=) c.648C>A (p.Arg216=) | |
| 5 | g.161294223C>A | CA362173230 | GABRB2 | c.1397G>T (p.Arg466Leu) c.*742G>T (n.*742G>T) c.1283G>T (p.Arg428Leu) c.1031G>T (p.Arg344Leu) c.533G>T (p.Arg178Leu) c.803G>T (p.Arg268Leu) c.1094G>T (p.Arg365Leu) c.647G>T (p.Arg216Leu) | |
| 5 | g.161294223C= | CA1595966740 | GABRB2 | c.1397G= (p.Arg466=) c.*742G= (n.*742G=) c.1283G= (p.Arg428=) c.1031G= (p.Arg344=) c.533G= (p.Arg178=) c.803G= (p.Arg268=) c.1094G= (p.Arg365=) c.647G= (p.Arg216=) | |
| 5 | g.161294223C>G | CA362173231 | GABRB2 | c.1397G>C (p.Arg466Pro) c.*742G>C (n.*742G>C) c.1283G>C (p.Arg428Pro) c.1031G>C (p.Arg344Pro) c.533G>C (p.Arg178Pro) c.803G>C (p.Arg268Pro) c.1094G>C (p.Arg365Pro) c.647G>C (p.Arg216Pro) | |
| 5 | g.161294223C>T | CA3543324 | GABRB2 | c.1397G>A (p.Arg466His) c.*742G>A (n.*742G>A) c.1283G>A (p.Arg428His) c.1031G>A (p.Arg344His) c.533G>A (p.Arg178His) c.803G>A (p.Arg268His) c.1094G>A (p.Arg365His) c.647G>A (p.Arg216His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.161294224G>A | CA362173232 | GABRB2 | c.1396C>T (p.Arg466Cys) c.*741C>T (n.*741C>T) c.1282C>T (p.Arg428Cys) c.1030C>T (p.Arg344Cys) c.532C>T (p.Arg178Cys) c.802C>T (p.Arg268Cys) c.1093C>T (p.Arg365Cys) c.646C>T (p.Arg216Cys) | ClinVar dbSNP gnomAD v4 |
| 5 | g.161294224G>C | CA362173233 | GABRB2 | c.1396C>G (p.Arg466Gly) c.*741C>G (n.*741C>G) c.1282C>G (p.Arg428Gly) c.1030C>G (p.Arg344Gly) c.532C>G (p.Arg178Gly) c.802C>G (p.Arg268Gly) c.1093C>G (p.Arg365Gly) c.646C>G (p.Arg216Gly) | |
| 5 | g.161294224G>T | CA362173234 | GABRB2 | c.1396C>A (p.Arg466Ser) c.*741C>A (n.*741C>A) c.1282C>A (p.Arg428Ser) c.1030C>A (p.Arg344Ser) c.532C>A (p.Arg178Ser) c.802C>A (p.Arg268Ser) c.1093C>A (p.Arg365Ser) c.646C>A (p.Arg216Ser) |