Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.113588232G>ACA378422001HABP2c.1546G>A (p.Glu516Lys)
c.1468G>A (p.Glu490Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.113588232G>CCA378422002HABP2c.1546G>C (p.Glu516Gln)
c.1468G>C (p.Glu490Gln)
10g.113588232G=CA1937429143HABP2c.1546G= (p.Glu516=)
c.1468G= (p.Glu490=)
10g.113588232G>TCA378422003HABP2c.1546G>T (p.Glu516Ter)
c.1468G>T (p.Glu490Ter)
10g.113588233A=CA1937429144HABP2c.1547A= (p.Glu516=)
c.1469A= (p.Glu490=)
10g.113588233A>CCA378422004HABP2c.1547A>C (p.Glu516Ala)
c.1469A>C (p.Glu490Ala)
10g.113588233A>GCA378422005HABP2c.1547A>G (p.Glu516Gly)
c.1469A>G (p.Glu490Gly)
10g.113588233A>TCA214443734HABP2c.1547A>T (p.Glu516Val)
c.1469A>T (p.Glu490Val)
 dbSNP
10g.113588234G>ACA471516753HABP2c.1548G>A (p.Glu516=)
c.1470G>A (p.Glu490=)
10g.113588234G>CCA378422006HABP2c.1548G>C (p.Glu516Asp)
c.1470G>C (p.Glu490Asp)
 gnomAD v4
10g.113588234G>TCA378422007HABP2c.1548G>T (p.Glu516Asp)
c.1470G>T (p.Glu490Asp)
10g.113588235A=CA1937429145HABP2c.1549A= (p.Lys517=)
c.1471A= (p.Lys491=)
10g.113588235A>CCA5694074HABP2c.1549A>C (p.Lys517Gln)
c.1471A>C (p.Lys491Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.113588235A>GCA378422008HABP2c.1549A>G (p.Lys517Glu)
c.1471A>G (p.Lys491Glu)
10g.113588235A>TCA378422009HABP2c.1549A>T (p.Lys517Ter)
c.1471A>T (p.Lys491Ter)
10g.113588236A>CCA378422010HABP2c.1550A>C (p.Lys517Thr)
c.1472A>C (p.Lys491Thr)
10g.113588236A>GCA378422011HABP2c.1550A>G (p.Lys517Arg)
c.1472A>G (p.Lys491Arg)
10g.113588236A>TCA378422012HABP2c.1550A>T (p.Lys517Met)
c.1472A>T (p.Lys491Met)
10g.113588237G>ACA5694075HABP2c.1551G>A (p.Lys517=)
c.1473G>A (p.Lys491=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113588237G>CCA378422013HABP2c.1551G>C (p.Lys517Asn)
c.1473G>C (p.Lys491Asn)
10g.113588237G=CA1937429146HABP2c.1551G= (p.Lys517=)
c.1473G= (p.Lys491=)
10g.113588237G>TCA378422014HABP2c.1551G>T (p.Lys517Asn)
c.1473G>T (p.Lys491Asn)
10g.113588238G>ACA378422015HABP2c.1552G>A (p.Asp518Asn)
c.1474G>A (p.Asp492Asn)
 dbSNP gnomAD v3 gnomAD v4
10g.113588238G>CCA378422016HABP2c.1552G>C (p.Asp518His)
c.1474G>C (p.Asp492His)
10g.113588238G=CA1937429147HABP2c.1552G= (p.Asp518=)
c.1474G= (p.Asp492=)
10g.113588238G>TCA378422017HABP2c.1552G>T (p.Asp518Tyr)
c.1474G>T (p.Asp492Tyr)
10g.113588239A=CA1937429148HABP2c.1553A= (p.Asp518=)
c.1475A= (p.Asp492=)
10g.113588239A>CCA378422018HABP2c.1553A>C (p.Asp518Ala)
c.1475A>C (p.Asp492Ala)
10g.113588239A>GCA378422020HABP2c.1553A>G (p.Asp518Gly)
c.1475A>G (p.Asp492Gly)
10g.113588239A>TCA378422019HABP2c.1553A>T (p.Asp518Val)
c.1475A>T (p.Asp492Val)
 dbSNP gnomAD v2 gnomAD v4
10g.113588240C>ACA378422021HABP2c.1554C>A (p.Asp518Glu)
c.1476C>A (p.Asp492Glu)
10g.113588240C=CA1937429149HABP2c.1554C= (p.Asp518=)
c.1476C= (p.Asp492=)
10g.113588240C>GCA378422022HABP2c.1554C>G (p.Asp518Glu)
c.1476C>G (p.Asp492Glu)
 dbSNP
10g.113588240C>TCA5694076HABP2c.1554C>T (p.Asp518=)
c.1476C>T (p.Asp492=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113588241_113588246delCA2574672124HABP2c.1555_1560del (p.Gly519_Thr520del)
c.1477_1482del (p.Gly493_Thr494del)
10g.113588241G>ACA5694077HABP2c.1555G>A (p.Gly519Ser)
c.1477G>A (p.Gly493Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113588241G>CCA378422023HABP2c.1555G>C (p.Gly519Arg)
c.1477G>C (p.Gly493Arg)
 COSMIC
10g.113588241G=CA1937429150HABP2c.1555G= (p.Gly519=)
c.1477G= (p.Gly493=)
10g.113588241G>TCA378422024HABP2c.1555G>T (p.Gly519Cys)
c.1477G>T (p.Gly493Cys)
 dbSNP gnomAD v2 gnomAD v4
10g.113588242G>ACA378422025HABP2c.1556G>A (p.Gly519Asp)
c.1478G>A (p.Gly493Asp)
 dbSNP gnomAD v4
10g.113588242G>CCA378422026HABP2c.1556G>C (p.Gly519Ala)
c.1478G>C (p.Gly493Ala)
10g.113588242G=CA1937429151HABP2c.1556G= (p.Gly519=)
c.1478G= (p.Gly493=)
10g.113588242G>TCA378422027HABP2c.1556G>T (p.Gly519Val)
c.1478G>T (p.Gly493Val)
10g.113588243C>ACA471516775HABP2c.1557C>A (p.Gly519=)
c.1479C>A (p.Gly493=)
10g.113588243C=CA1937429152HABP2c.1557C= (p.Gly519=)
c.1479C= (p.Gly493=)
10g.113588243C>GCA471516776HABP2c.1557C>G (p.Gly519=)
c.1479C>G (p.Gly493=)
10g.113588243C>TCA5694078HABP2c.1557C>T (p.Gly519=)
c.1479C>T (p.Gly493=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.113588244A=CA1937429153HABP2c.1558A= (p.Thr520=)
c.1480A= (p.Thr494=)
10g.113588244A>CCA214443752HABP2c.1558A>C (p.Thr520Pro)
c.1480A>C (p.Thr494Pro)
 dbSNP gnomAD v3 gnomAD v4
10g.113588244A>GCA378422028HABP2c.1558A>G (p.Thr520Ala)
c.1480A>G (p.Thr494Ala)
10g.113588244A>TCA378422029HABP2c.1558A>T (p.Thr520Ser)
c.1480A>T (p.Thr494Ser)
10g.113588245C>ACA378422030HABP2c.1559C>A (p.Thr520Asn)
c.1481C>A (p.Thr494Asn)
 dbSNP gnomAD v2
10g.113588245C=CA1937429154HABP2c.1559C= (p.Thr520=)
c.1481C= (p.Thr494=)
10g.113588245C>GCA5694079HABP2c.1559C>G (p.Thr520Ser)
c.1481C>G (p.Thr494Ser)
 dbSNP ExAC gnomAD v3 gnomAD v4
10g.113588245C>TCA5694080HABP2c.1559C>T (p.Thr520Ile)
c.1481C>T (p.Thr494Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113588246C>ACA214443759HABP2c.1560C>A (p.Thr520=)
c.1482C>A (p.Thr494=)
 dbSNP
10g.113588246C=CA1937429155HABP2c.1560C= (p.Thr520=)
c.1482C= (p.Thr494=)
10g.113588246C>GCA471516785HABP2c.1560C>G (p.Thr520=)
c.1482C>G (p.Thr494=)
10g.113588246C>TCA471516787HABP2c.1560C>T (p.Thr520=)
c.1482C>T (p.Thr494=)
 gnomAD v4
10g.113588247T>ACA378422031HABP2c.1561T>A (p.Tyr521Asn)
c.1483T>A (p.Tyr495Asn)
10g.113588247T>CCA10628080HABP2c.1561T>C (p.Tyr521His)
c.1483T>C (p.Tyr495His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.113588247T>GCA378422032HABP2c.1561T>G (p.Tyr521Asp)
c.1483T>G (p.Tyr495Asp)
10g.113588247T=CA1937429156HABP2c.1561T= (p.Tyr521=)
c.1483T= (p.Tyr495=)
10g.113588247dupCA2610952447HABP2c.1561dup (p.Tyr521LeufsTer?)
c.1483dup (p.Tyr495LeufsTer?)
 gnomAD v4
10g.113588248A>CCA378422033HABP2c.1562A>C (p.Tyr521Ser)
c.1484A>C (p.Tyr495Ser)
10g.113588248A>GCA378422034HABP2c.1562A>G (p.Tyr521Cys)
c.1484A>G (p.Tyr495Cys)
10g.113588248A>TCA378422035HABP2c.1562A>T (p.Tyr521Phe)
c.1484A>T (p.Tyr495Phe)
 gnomAD v4
10g.113588249C>ACA378422036HABP2c.1563C>A (p.Tyr521Ter)
c.1485C>A (p.Tyr495Ter)
10g.113588249C=CA1937429157HABP2c.1563C= (p.Tyr521=)
c.1485C= (p.Tyr495=)
10g.113588249C>GCA5694081HABP2c.1563C>G (p.Tyr521Ter)
c.1485C>G (p.Tyr495Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113588249C>TCA471516795HABP2c.1563C>T (p.Tyr521=)
c.1485C>T (p.Tyr495=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.113588250T>ACA378422037HABP2c.1564T>A (p.Tyr522Asn)
c.1486T>A (p.Tyr496Asn)
10g.113588250T>CCA378422038HABP2c.1564T>C (p.Tyr522His)
c.1486T>C (p.Tyr496His)
 gnomAD v4
10g.113588250T>GCA378422039HABP2c.1564T>G (p.Tyr522Asp)
c.1486T>G (p.Tyr496Asp)
10g.113588251A>CCA378422042HABP2c.1565A>C (p.Tyr522Ser)
c.1487A>C (p.Tyr496Ser)
10g.113588251A>GCA378422041HABP2c.1565A>G (p.Tyr522Cys)
c.1487A>G (p.Tyr496Cys)
10g.113588251A>TCA378422040HABP2c.1565A>T (p.Tyr522Phe)
c.1487A>T (p.Tyr496Phe)
10g.113588252C>ACA378422044HABP2c.1566C>A (p.Tyr522Ter)
c.1488C>A (p.Tyr496Ter)
10g.113588252C=CA1937429158HABP2c.1566C= (p.Tyr522=)
c.1488C= (p.Tyr496=)
10g.113588252C>GCA378422043HABP2c.1566C>G (p.Tyr522Ter)
c.1488C>G (p.Tyr496Ter)
10g.113588252C>TCA5694082HABP2c.1566C>T (p.Tyr522=)
c.1488C>T (p.Tyr496=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113588253G>ACA214443771HABP2c.1567G>A (p.Val523Ile)
c.1489G>A (p.Val497Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.113588253G>CCA378422045HABP2c.1567G>C (p.Val523Leu)
c.1489G>C (p.Val497Leu)
10g.113588253G=CA1937429159HABP2c.1567G= (p.Val523=)
c.1489G= (p.Val497=)
10g.113588253G>TCA378422047HABP2c.1567G>T (p.Val523Phe)
c.1489G>T (p.Val497Phe)
10g.113588253_113588256dupCA2610952448HABP2c.1567_1570dup (p.Tyr524CysfsTer?)
c.1489_1492dup (p.Tyr498CysfsTer?)
 gnomAD v4
10g.113588254T>ACA378422050HABP2c.1568T>A (p.Val523Asp)
c.1490T>A (p.Val497Asp)
10g.113588254T>CCA378422051HABP2c.1568T>C (p.Val523Ala)
c.1490T>C (p.Val497Ala)
 gnomAD v4
10g.113588254T>GCA378422052HABP2c.1568T>G (p.Val523Gly)
c.1490T>G (p.Val497Gly)
 dbSNP gnomAD v2 gnomAD v4
10g.113588254T=CA1937429160HABP2c.1568T= (p.Val523=)
c.1490T= (p.Val497=)
10g.113588255C>ACA471516810HABP2c.1569C>A (p.Val523=)
c.1491C>A (p.Val497=)
10g.113588255C>GCA471516813HABP2c.1569C>G (p.Val523=)
c.1491C>G (p.Val497=)
10g.113588255C>TCA471516811HABP2c.1569C>T (p.Val523=)
c.1491C>T (p.Val497=)
10g.113588256T>ACA378422059HABP2c.1570T>A (p.Tyr524Asn)
c.1492T>A (p.Tyr498Asn)
10g.113588256T>CCA378422055HABP2c.1570T>C (p.Tyr524His)
c.1492T>C (p.Tyr498His)
10g.113588256T>GCA378422057HABP2c.1570T>G (p.Tyr524Asp)
c.1492T>G (p.Tyr498Asp)
10g.113588257A=CA1937429161HABP2c.1571A= (p.Tyr524=)
c.1493A= (p.Tyr498=)
10g.113588257A>CCA378422062HABP2c.1571A>C (p.Tyr524Ser)
c.1493A>C (p.Tyr498Ser)
10g.113588257A>GCA5694083HABP2c.1571A>G (p.Tyr524Cys)
c.1493A>G (p.Tyr498Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113588257A>TCA378422064HABP2c.1571A>T (p.Tyr524Phe)
c.1493A>T (p.Tyr498Phe)
10g.113588258T>ACA378422066HABP2c.1572T>A (p.Tyr524Ter)
c.1494T>A (p.Tyr498Ter)
10g.113588258T>CCA471516826HABP2c.1572T>C (p.Tyr524=)
c.1494T>C (p.Tyr498=)
 dbSNP
10g.113588258T>GCA378422068HABP2c.1572T>G (p.Tyr524Ter)
c.1494T>G (p.Tyr498Ter)
10g.113588258T=CA1937429162HABP2c.1572T= (p.Tyr524=)
c.1494T= (p.Tyr498=)
10g.113588259G>ACA5694084HABP2c.1573G>A (p.Gly525Arg)
c.1495G>A (p.Gly499Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.113588259G>CCA378422072HABP2c.1573G>C (p.Gly525Arg)
c.1495G>C (p.Gly499Arg)
10g.113588259G=CA1937429163HABP2c.1573G= (p.Gly525=)
c.1495G= (p.Gly499=)
10g.113588259G>TCA378422070HABP2c.1573G>T (p.Gly525Trp)
c.1495G>T (p.Gly499Trp)
10g.113588260G>ACA378422074HABP2c.1574G>A (p.Gly525Glu)
c.1496G>A (p.Gly499Glu)
 dbSNP gnomAD v2 gnomAD v4
10g.113588260G>CCA378422076HABP2c.1574G>C (p.Gly525Ala)
c.1496G>C (p.Gly499Ala)
10g.113588260G=CA1937429164HABP2c.1574G= (p.Gly525=)
c.1496G= (p.Gly499=)
10g.113588260G>TCA378422078HABP2c.1574G>T (p.Gly525Val)
c.1496G>T (p.Gly499Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.113588261G>ACA471516833HABP2c.1575G>A (p.Gly525=)
c.1497G>A (p.Gly499=)
10g.113588261G>CCA471516836HABP2c.1575G>C (p.Gly525=)
c.1497G>C (p.Gly499=)
10g.113588261G>TCA471516834HABP2c.1575G>T (p.Gly525=)
c.1497G>T (p.Gly499=)
10g.113588262A>CCA378422080HABP2c.1576A>C (p.Ile526Leu)
c.1498A>C (p.Ile500Leu)
 dbSNP gnomAD v3 gnomAD v4
10g.113588262A>GCA378422081HABP2c.1576A>G (p.Ile526Val)
c.1498A>G (p.Ile500Val)
 gnomAD v4
10g.113588262A>TCA378422084HABP2c.1576A>T (p.Ile526Leu)
c.1498A>T (p.Ile500Leu)
10g.113588263T>ACA378422086HABP2c.1577T>A (p.Ile526Lys)
c.1499T>A (p.Ile500Lys)
10g.113588263T>CCA214443781HABP2c.1577T>C (p.Ile526Thr)
c.1499T>C (p.Ile500Thr)
 dbSNP gnomAD v3 gnomAD v4
10g.113588263T>GCA378422089HABP2c.1577T>G (p.Ile526Arg)
c.1499T>G (p.Ile500Arg)
10g.113588263T=CA1937429165HABP2c.1577T= (p.Ile526=)
c.1499T= (p.Ile500=)
10g.113588264A=CA1937429166HABP2c.1578A= (p.Ile526=)
c.1500A= (p.Ile500=)
10g.113588264A>CCA471516844HABP2c.1578A>C (p.Ile526=)
c.1500A>C (p.Ile500=)
 dbSNP
10g.113588264A>GCA378422091HABP2c.1578A>G (p.Ile526Met)
c.1500A>G (p.Ile500Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.113588264A>TCA471516846HABP2c.1578A>T (p.Ile526=)
c.1500A>T (p.Ile500=)
10g.113588265G>ACA378422096HABP2c.1579G>A (p.Val527Met)
c.1501G>A (p.Val501Met)
 gnomAD v4
10g.113588265G>CCA378422095HABP2c.1579G>C (p.Val527Leu)
c.1501G>C (p.Val501Leu)
10g.113588265G>TCA378422093HABP2c.1579G>T (p.Val527Leu)
c.1501G>T (p.Val501Leu)
10g.113588266T>ACA378422099HABP2c.1580T>A (p.Val527Glu)
c.1502T>A (p.Val501Glu)
10g.113588266T>CCA378422100HABP2c.1580T>C (p.Val527Ala)
c.1502T>C (p.Val501Ala)
 gnomAD v4
10g.113588266T>GCA378422102HABP2c.1580T>G (p.Val527Gly)
c.1502T>G (p.Val501Gly)
 gnomAD v4
10g.113588267G>ACA471516852HABP2c.1581G>A (p.Val527=)
c.1503G>A (p.Val501=)
10g.113588267G>CCA471516854HABP2c.1581G>C (p.Val527=)
c.1503G>C (p.Val501=)
10g.113588267G=CA1937429167HABP2c.1581G= (p.Val527=)
c.1503G= (p.Val501=)
10g.113588267G>TCA214443784HABP2c.1581G>T (p.Val527=)
c.1503G>T (p.Val501=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.113588268A>CCA378422104HABP2c.1582A>C (p.Ser528Arg)
c.1504A>C (p.Ser502Arg)
10g.113588268A>GCA378422106HABP2c.1582A>G (p.Ser528Gly)
c.1504A>G (p.Ser502Gly)
10g.113588268A>TCA378422107HABP2c.1582A>T (p.Ser528Cys)
c.1504A>T (p.Ser502Cys)
10g.113588269G>ACA378422112HABP2c.1583G>A (p.Ser528Asn)
c.1505G>A (p.Ser502Asn)
10g.113588269G>CCA378422109HABP2c.1583G>C (p.Ser528Thr)
c.1505G>C (p.Ser502Thr)
10g.113588269G=CA1937429168HABP2c.1583G= (p.Ser528=)
c.1505G= (p.Ser502=)
10g.113588269G>TCA5694085HABP2c.1583G>T (p.Ser528Ile)
c.1505G>T (p.Ser502Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113588270C>ACA378422114HABP2c.1584C>A (p.Ser528Arg)
c.1506C>A (p.Ser502Arg)
10g.113588270C>GCA378422116HABP2c.1584C>G (p.Ser528Arg)
c.1506C>G (p.Ser502Arg)
10g.113588270C>TCA471516861HABP2c.1584C>T (p.Ser528=)
c.1506C>T (p.Ser502=)
10g.113588271T>ACA378422118HABP2c.1585T>A (p.Trp529Arg)
c.1507T>A (p.Trp503Arg)
10g.113588271T>CCA378422121HABP2c.1585T>C (p.Trp529Arg)
c.1507T>C (p.Trp503Arg)
10g.113588271T>GCA378422122HABP2c.1585T>G (p.Trp529Gly)
c.1507T>G (p.Trp503Gly)
10g.113588272G>ACA378422125HABP2c.1586G>A (p.Trp529Ter)
c.1508G>A (p.Trp503Ter)
 gnomAD v4
10g.113588272G>CCA378422128HABP2c.1586G>C (p.Trp529Ser)
c.1508G>C (p.Trp503Ser)
10g.113588272G>TCA378422126HABP2c.1586G>T (p.Trp529Leu)
c.1508G>T (p.Trp503Leu)
10g.113588275dupCA2610952449HABP2c.1589dup (p.Leu531ProfsTer27)
c.1511dup (p.Leu505ProfsTer27)
 gnomAD v4
10g.113588275delCA2574672125HABP2c.1589del (p.Gly530AlafsTer18)
c.1511del (p.Gly504AlafsTer18)
10g.113588273G>ACA378422130HABP2c.1587G>A (p.Trp529Ter)
c.1509G>A (p.Trp503Ter)
10g.113588273G>CCA378422132HABP2c.1587G>C (p.Trp529Cys)
c.1509G>C (p.Trp503Cys)
 dbSNP
10g.113588273G=CA1937429169HABP2c.1587G= (p.Trp529=)
c.1509G= (p.Trp503=)
10g.113588273G>TCA378422134HABP2c.1587G>T (p.Trp529Cys)
c.1509G>T (p.Trp503Cys)
 gnomAD v4
10g.113588274G>ACA378422136HABP2c.1588G>A (p.Gly530Ser)
c.1510G>A (p.Gly504Ser)
10g.113588274G>CCA378422138HABP2c.1588G>C (p.Gly530Arg)
c.1510G>C (p.Gly504Arg)
10g.113588274G>TCA378422139HABP2c.1588G>T (p.Gly530Cys)
c.1510G>T (p.Gly504Cys)
10g.113588275G>ACA378422142HABP2c.1589G>A (p.Gly530Asp)
c.1511G>A (p.Gly504Asp)
 dbSNP gnomAD v2 gnomAD v4
10g.113588275G>CCA378422144HABP2c.1589G>C (p.Gly530Ala)
c.1511G>C (p.Gly504Ala)
10g.113588275G=CA1937429170HABP2c.1589G= (p.Gly530=)
c.1511G= (p.Gly504=)
10g.113588275G>TCA378422145HABP2c.1589G>T (p.Gly530Val)
c.1511G>T (p.Gly504Val)
10g.113588276C>ACA471516880HABP2c.1590C>A (p.Gly530=)
c.1512C>A (p.Gly504=)
10g.113588276C>GCA471516877HABP2c.1590C>G (p.Gly530=)
c.1512C>G (p.Gly504=)
10g.113588276C>TCA471516878HABP2c.1590C>T (p.Gly530=)
c.1512C>T (p.Gly504=)
 ClinVar dbSNP
10g.113588277C>ACA378422148HABP2c.1591C>A (p.Leu531Met)
c.1513C>A (p.Leu505Met)
10g.113588277C=CA1937429171HABP2c.1591C= (p.Leu531=)
c.1513C= (p.Leu505=)
10g.113588277C>GCA378422150HABP2c.1591C>G (p.Leu531Val)
c.1513C>G (p.Leu505Val)
 dbSNP
10g.113588277C>TCA214443789HABP2c.1591C>T (p.Leu531=)
c.1513C>T (p.Leu505=)
 dbSNP
10g.113588278T>ACA378422154HABP2c.1592T>A (p.Leu531Gln)
c.1514T>A (p.Leu505Gln)
10g.113588278T>CCA378422156HABP2c.1592T>C (p.Leu531Pro)
c.1514T>C (p.Leu505Pro)
10g.113588278T>GCA378422153HABP2c.1592T>G (p.Leu531Arg)
c.1514T>G (p.Leu505Arg)
10g.113588279G>ACA471516885HABP2c.1593G>A (p.Leu531=)
c.1515G>A (p.Leu505=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.113588279G>CCA471516886HABP2c.1593G>C (p.Leu531=)
c.1515G>C (p.Leu505=)
 gnomAD v4
10g.113588279G=CA1937429172HABP2c.1593G= (p.Leu531=)
c.1515G= (p.Leu505=)
10g.113588279G>TCA471516890HABP2c.1593G>T (p.Leu531=)
c.1515G>T (p.Leu505=)
10g.113588280G>ACA378422160HABP2c.1594G>A (p.Glu532Lys)
c.1516G>A (p.Glu506Lys)
 gnomAD v4
10g.113588280G>CCA378422162HABP2c.1594G>C (p.Glu532Gln)
c.1516G>C (p.Glu506Gln)
10g.113588280G=CA1937429173HABP2c.1594G= (p.Glu532=)
c.1516G= (p.Glu506=)
10g.113588280G>TCA5694087HABP2c.1594G>T (p.Glu532Ter)
c.1516G>T (p.Glu506Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.113588281_113588284dupCA5694086HABP2c.1595_1598dup (p.Cys533Ter)
c.1517_1520dup (p.Cys507Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113588281A>CCA378422167HABP2c.1595A>C (p.Glu532Ala)
c.1517A>C (p.Glu506Ala)
10g.113588281A>GCA378422163HABP2c.1595A>G (p.Glu532Gly)
c.1517A>G (p.Glu506Gly)
10g.113588281A>TCA378422165HABP2c.1595A>T (p.Glu532Val)
c.1517A>T (p.Glu506Val)
10g.113588282G>ACA471516896HABP2c.1596G>A (p.Glu532=)
c.1518G>A (p.Glu506=)
10g.113588282G>CCA378422168HABP2c.1596G>C (p.Glu532Asp)
c.1518G>C (p.Glu506Asp)
10g.113588282G>TCA378422170HABP2c.1596G>T (p.Glu532Asp)
c.1518G>T (p.Glu506Asp)
10g.113588283T>ACA378422172HABP2c.1597T>A (p.Cys533Ser)
c.1519T>A (p.Cys507Ser)
10g.113588283T>CCA378422174HABP2c.1597T>C (p.Cys533Arg)
c.1519T>C (p.Cys507Arg)
10g.113588283T>GCA378422175HABP2c.1597T>G (p.Cys533Gly)
c.1519T>G (p.Cys507Gly)
 gnomAD v4
10g.113588284G>ACA378422177HABP2c.1598G>A (p.Cys533Tyr)
c.1520G>A (p.Cys507Tyr)
 dbSNP gnomAD v3 gnomAD v4
10g.113588284G>CCA378422178HABP2c.1598G>C (p.Cys533Ser)
c.1520G>C (p.Cys507Ser)
10g.113588284G=CA1937429174HABP2c.1598G= (p.Cys533=)
c.1520G= (p.Cys507=)
10g.113588284G>TCA214443799HABP2c.1598G>T (p.Cys533Phe)
c.1520G>T (p.Cys507Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.113588285T>ACA378422180HABP2c.1599T>A (p.Cys533Ter)
c.1521T>A (p.Cys507Ter)
10g.113588285T>CCA471516902HABP2c.1599T>C (p.Cys533=)
c.1521T>C (p.Cys507=)
10g.113588285T>GCA378422182HABP2c.1599T>G (p.Cys533Trp)
c.1521T>G (p.Cys507Trp)
 dbSNP gnomAD v4
10g.113588285T=CA1937429176HABP2c.1599T= (p.Cys533=)
c.1521T= (p.Cys507=)
10g.113588285_113588286delinsTGCA1937429175HABP2c.1599_1600delinsTG (p.Cys533=)
c.1521_1522delinsTG (p.Cys507=)
10g.113588286G>ACA378422188HABP2c.1600G>A (p.Gly534Arg)
c.1522G>A (p.Gly508Arg)
10g.113588286G>CCA378422185HABP2c.1600G>C (p.Gly534Arg)
c.1522G>C (p.Gly508Arg)
10g.113588286G>TCA378422186HABP2c.1600G>T (p.Gly534Trp)
c.1522G>T (p.Gly508Trp)
10g.113588288dupCA918764873HABP2c.1602dup (p.Lys535GlufsTer23)
c.1524dup (p.Lys509GlufsTer23)
 dbSNP
10g.113588288delCA596112886HABP2c.1602del (p.Lys535ArgfsTer13)
c.1524del (p.Lys509ArgfsTer13)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.113588287G>ACA211167HABP2c.1601G>A (p.Gly534Glu)
c.1523G>A (p.Gly508Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113588287G>CCA378422191HABP2c.1601G>C (p.Gly534Ala)
c.1523G>C (p.Gly508Ala)
10g.113588287G=CA1937429177HABP2c.1601G= (p.Gly534=)
c.1523G= (p.Gly508=)
10g.113588287G>TCA378422193HABP2c.1601G>T (p.Gly534Val)
c.1523G>T (p.Gly508Val)
10g.113588288G>ACA471516915HABP2c.1602G>A (p.Gly534=)
c.1524G>A (p.Gly508=)
10g.113588288G>CCA471516913HABP2c.1602G>C (p.Gly534=)
c.1524G>C (p.Gly508=)
10g.113588288G>TCA471516911HABP2c.1602G>T (p.Gly534=)
c.1524G>T (p.Gly508=)
 gnomAD v4
10g.113588289A>CCA378422194HABP2c.1603A>C (p.Lys535Gln)
c.1525A>C (p.Lys509Gln)
10g.113588289A>GCA378422196HABP2c.1603A>G (p.Lys535Glu)
c.1525A>G (p.Lys509Glu)
10g.113588289A>TCA378422198HABP2c.1603A>T (p.Lys535Ter)
c.1525A>T (p.Lys509Ter)
10g.113588290A>CCA378422200HABP2c.1604A>C (p.Lys535Thr)
c.1526A>C (p.Lys509Thr)
 gnomAD v4
10g.113588290A>GCA378422202HABP2c.1604A>G (p.Lys535Arg)
c.1526A>G (p.Lys509Arg)
10g.113588290A>TCA378422204HABP2c.1604A>T (p.Lys535Met)
c.1526A>T (p.Lys509Met)
10g.113588291G>ACA471516922HABP2c.1605G>A (p.Lys535=)
c.1527G>A (p.Lys509=)
10g.113588291G>CCA378422206HABP2c.1605G>C (p.Lys535Asn)
c.1527G>C (p.Lys509Asn)
10g.113588291G>TCA378422208HABP2c.1605G>T (p.Lys535Asn)
c.1527G>T (p.Lys509Asn)
 gnomAD v4
10g.113588292A>CCA471516924HABP2c.1606A>C (p.Arg536=)
c.1528A>C (p.Arg510=)
 gnomAD v4
10g.113588292A>GCA378422213HABP2c.1606A>G (p.Arg536Gly)
c.1528A>G (p.Arg510Gly)
10g.113588292A>TCA378422210HABP2c.1606A>T (p.Arg536Trp)
c.1528A>T (p.Arg510Trp)
10g.113588292_113588303delinsAGGCCAGGGGTCCA1937429178HABP2c.1606_1617delinsAGGCCAGGGGTC (p.Arg536=)
c.1528_1539delinsAGGCCAGGGGTC (p.Arg510=)
10g.113588293G>ACA378422223HABP2c.1607G>A (p.Arg536Lys)
c.1529G>A (p.Arg510Lys)
10g.113588293G>CCA5694088HABP2c.1607G>C (p.Arg536Thr)
c.1529G>C (p.Arg510Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113588293G=CA1937429179HABP2c.1607G= (p.Arg536=)
c.1529G= (p.Arg510=)
10g.113588293G>TCA378422227HABP2c.1607G>T (p.Arg536Met)
c.1529G>T (p.Arg510Met)
 dbSNP
10g.113588293_113588303delCA660072758HABP2c.1607_1617del (p.Arg536IlefsTer18)
c.1529_1539del (p.Arg510IlefsTer18)
 dbSNP gnomAD v3 gnomAD v4
10g.113588294G>ACA471516925HABP2c.1608G>A (p.Arg536=)
c.1530G>A (p.Arg510=)
10g.113588294G>CCA378422230HABP2c.1608G>C (p.Arg536Ser)
c.1530G>C (p.Arg510Ser)
10g.113588294G>TCA378422233HABP2c.1608G>T (p.Arg536Ser)
c.1530G>T (p.Arg510Ser)
10g.113588295C>ACA378422240HABP2c.1609C>A (p.Pro537Thr)
c.1531C>A (p.Pro511Thr)
10g.113588295C=CA1937429180HABP2c.1609C= (p.Pro537=)
c.1531C= (p.Pro511=)
10g.113588295C>GCA214443809HABP2c.1609C>G (p.Pro537Ala)
c.1531C>G (p.Pro511Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.113588295C>TCA378422235HABP2c.1609C>T (p.Pro537Ser)
c.1531C>T (p.Pro511Ser)
10g.113588296C>ACA378422242HABP2c.1610C>A (p.Pro537Gln)
c.1532C>A (p.Pro511Gln)
 dbSNP
10g.113588296C=CA1937429181HABP2c.1610C= (p.Pro537=)
c.1532C= (p.Pro511=)
10g.113588296C>GCA378422246HABP2c.1610C>G (p.Pro537Arg)
c.1532C>G (p.Pro511Arg)
10g.113588296C>TCA378422247HABP2c.1610C>T (p.Pro537Leu)
c.1532C>T (p.Pro511Leu)
10g.113588297A>CCA471516942HABP2c.1611A>C (p.Pro537=)
c.1533A>C (p.Pro511=)
10g.113588297A>GCA471516944HABP2c.1611A>G (p.Pro537=)
c.1533A>G (p.Pro511=)
10g.113588297A>TCA471516946HABP2c.1611A>T (p.Pro537=)
c.1533A>T (p.Pro511=)
10g.113588298G>ACA378422250HABP2c.1612G>A (p.Gly538Arg)
c.1534G>A (p.Gly512Arg)
10g.113588298G>CCA378422253HABP2c.1612G>C (p.Gly538Arg)
c.1534G>C (p.Gly512Arg)
10g.113588298G>TCA378422255HABP2c.1612G>T (p.Gly538Trp)
c.1534G>T (p.Gly512Trp)
 gnomAD v4
10g.113588301delCA2521013447HABP2c.1615del (p.Val539SerfsTer9)
c.1537del (p.Val513SerfsTer9)
10g.113588299G>ACA378422258HABP2c.1613G>A (p.Gly538Glu)
c.1535G>A (p.Gly512Glu)
 gnomAD v4
10g.113588299G>CCA378422262HABP2c.1613G>C (p.Gly538Ala)
c.1535G>C (p.Gly512Ala)
10g.113588299G>TCA378422260HABP2c.1613G>T (p.Gly538Val)
c.1535G>T (p.Gly512Val)
10g.113588300G>ACA471516954HABP2c.1614G>A (p.Gly538=)
c.1536G>A (p.Gly512=)
 dbSNP gnomAD v2
10g.113588300G>CCA471516955HABP2c.1614G>C (p.Gly538=)
c.1536G>C (p.Gly512=)
10g.113588300G=CA1937429182HABP2c.1614G= (p.Gly538=)
c.1536G= (p.Gly512=)
10g.113588300G>TCA471516957HABP2c.1614G>T (p.Gly538=)
c.1536G>T (p.Gly512=)
 gnomAD v4
10g.113588301G>ACA378422264HABP2c.1615G>A (p.Val539Ile)
c.1537G>A (p.Val513Ile)
10g.113588301G>CCA378422267HABP2c.1615G>C (p.Val539Leu)
c.1537G>C (p.Val513Leu)
10g.113588301G>TCA378422269HABP2c.1615G>T (p.Val539Phe)
c.1537G>T (p.Val513Phe)
10g.113588302T>ACA378422272HABP2c.1616T>A (p.Val539Asp)
c.1538T>A (p.Val513Asp)
10g.113588302T>CCA378422274HABP2c.1616T>C (p.Val539Ala)
c.1538T>C (p.Val513Ala)
10g.113588302T>GCA378422276HABP2c.1616T>G (p.Val539Gly)
c.1538T>G (p.Val513Gly)
 dbSNP gnomAD v2 gnomAD v4
10g.113588302T=CA1937429183HABP2c.1616T= (p.Val539=)
c.1538T= (p.Val513=)
10g.113588303C>ACA471516964HABP2c.1617C>A (p.Val539=)
c.1539C>A (p.Val513=)
10g.113588303C=CA1937429184HABP2c.1617C= (p.Val539=)
c.1539C= (p.Val513=)
10g.113588303C>GCA471516965HABP2c.1617C>G (p.Val539=)
c.1539C>G (p.Val513=)
 dbSNP gnomAD v2 gnomAD v4
10g.113588303C>TCA471516966HABP2c.1617C>T (p.Val539=)
c.1539C>T (p.Val513=)
10g.113588304T>ACA378422279HABP2c.1618T>A (p.Tyr540Asn)
c.1540T>A (p.Tyr514Asn)
10g.113588304T>CCA378422282HABP2c.1618T>C (p.Tyr540His)
c.1540T>C (p.Tyr514His)
10g.113588304T>GCA378422284HABP2c.1618T>G (p.Tyr540Asp)
c.1540T>G (p.Tyr514Asp)
10g.113588305A>CCA378422286HABP2c.1619A>C (p.Tyr540Ser)
c.1541A>C (p.Tyr514Ser)
10g.113588305A>GCA378422288HABP2c.1619A>G (p.Tyr540Cys)
c.1541A>G (p.Tyr514Cys)
10g.113588305A>TCA378422290HABP2c.1619A>T (p.Tyr540Phe)
c.1541A>T (p.Tyr514Phe)
10g.113588306C>ACA378422293HABP2c.1620C>A (p.Tyr540Ter)
c.1542C>A (p.Tyr514Ter)
10g.113588306C=CA1937429185HABP2c.1620C= (p.Tyr540=)
c.1542C= (p.Tyr514=)
10g.113588306C>GCA378422296HABP2c.1620C>G (p.Tyr540Ter)
c.1542C>G (p.Tyr514Ter)
10g.113588306C>TCA471516977HABP2c.1620C>T (p.Tyr540=)
c.1542C>T (p.Tyr514=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.113588307A=CA1937429186HABP2c.1621A= (p.Thr541=)
c.1543A= (p.Thr515=)
10g.113588307A>CCA378422299HABP2c.1621A>C (p.Thr541Pro)
c.1543A>C (p.Thr515Pro)
 dbSNP
10g.113588307A>GCA378422304HABP2c.1621A>G (p.Thr541Ala)
c.1543A>G (p.Thr515Ala)
10g.113588307A>TCA378422301HABP2c.1621A>T (p.Thr541Ser)
c.1543A>T (p.Thr515Ser)
10g.113588308C>ACA378422307HABP2c.1622C>A (p.Thr541Asn)
c.1544C>A (p.Thr515Asn)
 gnomAD v4
10g.113588308C=CA1937429187HABP2c.1622C= (p.Thr541=)
c.1544C= (p.Thr515=)
10g.113588308C>GCA378422309HABP2c.1622C>G (p.Thr541Ser)
c.1544C>G (p.Thr515Ser)
10g.113588308C>TCA378422312HABP2c.1622C>T (p.Thr541Ile)
c.1544C>T (p.Thr515Ile)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
10g.113588309C>ACA471516984HABP2c.1623C>A (p.Thr541=)
c.1545C>A (p.Thr515=)
 dbSNP gnomAD v2 gnomAD v4
10g.113588309C=CA1937429188HABP2c.1623C= (p.Thr541=)
c.1545C= (p.Thr515=)
10g.113588309C>GCA471516985HABP2c.1623C>G (p.Thr541=)
c.1545C>G (p.Thr515=)
10g.113588309C>TCA471516986HABP2c.1623C>T (p.Thr541=)
c.1545C>T (p.Thr515=)
10g.113588310C>ACA378422315HABP2c.1624C>A (p.Gln542Lys)
c.1546C>A (p.Gln516Lys)
 dbSNP
10g.113588310C=CA1937429190HABP2c.1624C= (p.Gln542=)
c.1546C= (p.Gln516=)
10g.113588310C>GCA378422317HABP2c.1624C>G (p.Gln542Glu)
c.1546C>G (p.Gln516Glu)
10g.113588310C>TCA378422320HABP2c.1624C>T (p.Gln542Ter)
c.1546C>T (p.Gln516Ter)
10g.113588310_113588312delinsCAACA1937429189HABP2c.1624_1626delinsCAA (p.Gln542=)
c.1546_1548delinsCAA (p.Gln516=)
10g.113588311A>CCA378422323HABP2c.1625A>C (p.Gln542Pro)
c.1547A>C (p.Gln516Pro)
10g.113588311A>GCA378422325HABP2c.1625A>G (p.Gln542Arg)
c.1547A>G (p.Gln516Arg)
10g.113588311A>TCA378422327HABP2c.1625A>T (p.Gln542Leu)
c.1547A>T (p.Gln516Leu)
10g.113588311_113588312delCA596112887HABP2c.1625_1626del (p.Gln542ArgfsTer15)
c.1547_1548del (p.Gln516ArgfsTer15)
 dbSNP gnomAD v2 gnomAD v4
10g.113588312A=CA1937429191HABP2c.1626A= (p.Gln542=)
c.1548A= (p.Gln516=)
10g.113588312A>CCA378422331HABP2c.1626A>C (p.Gln542His)
c.1548A>C (p.Gln516His)
 gnomAD v4 COSMIC
10g.113588312A>GCA471516993HABP2c.1626A>G (p.Gln542=)
c.1548A>G (p.Gln516=)
 dbSNP gnomAD v4
10g.113588312A>TCA378422332HABP2c.1626A>T (p.Gln542His)
c.1548A>T (p.Gln516His)
10g.113588313G>ACA378422340HABP2c.1627G>A (p.Val543Ile)
c.1549G>A (p.Val517Ile)
 gnomAD v4
10g.113588313G>CCA378422338HABP2c.1627G>C (p.Val543Leu)
c.1549G>C (p.Val517Leu)
10g.113588313G=CA1937429192HABP2c.1627G= (p.Val543=)
c.1549G= (p.Val517=)
10g.113588313G>TCA378422336HABP2c.1627G>T (p.Val543Phe)
c.1549G>T (p.Val517Phe)
 dbSNP gnomAD v4
10g.113588314T>ACA378422342HABP2c.1628T>A (p.Val543Asp)
c.1550T>A (p.Val517Asp)
10g.113588314T>CCA378422345HABP2c.1628T>C (p.Val543Ala)
c.1550T>C (p.Val517Ala)
10g.113588314T>GCA378422347HABP2c.1628T>G (p.Val543Gly)
c.1550T>G (p.Val517Gly)
10g.113588315T>ACA471516996HABP2c.1629T>A (p.Val543=)
c.1551T>A (p.Val517=)
10g.113588315T>CCA471516997HABP2c.1629T>C (p.Val543=)
c.1551T>C (p.Val517=)
10g.113588315T>GCA471516998HABP2c.1629T>G (p.Val543=)
c.1551T>G (p.Val517=)
10g.113588316A>CCA378422350HABP2c.1630A>C (p.Thr544Pro)
c.1552A>C (p.Thr518Pro)
10g.113588316A>GCA378422352HABP2c.1630A>G (p.Thr544Ala)
c.1552A>G (p.Thr518Ala)
10g.113588316A>TCA378422354HABP2c.1630A>T (p.Thr544Ser)
c.1552A>T (p.Thr518Ser)
10g.113588317C>ACA378422357HABP2c.1631C>A (p.Thr544Asn)
c.1553C>A (p.Thr518Asn)
10g.113588317C>GCA378422361HABP2c.1631C>G (p.Thr544Ser)
c.1553C>G (p.Thr518Ser)
10g.113588317C>TCA378422363HABP2c.1631C>T (p.Thr544Ile)
c.1553C>T (p.Thr518Ile)
10g.113588318C>ACA471517009HABP2c.1632C>A (p.Thr544=)
c.1554C>A (p.Thr518=)
10g.113588318C>GCA471517008HABP2c.1632C>G (p.Thr544=)
c.1554C>G (p.Thr518=)
 gnomAD v4
10g.113588318C>TCA471517010HABP2c.1632C>T (p.Thr544=)
c.1554C>T (p.Thr518=)
10g.113588319A=CA1937429193HABP2c.1633A= (p.Lys545=)
c.1555A= (p.Lys519=)
10g.113588319A>CCA214443813HABP2c.1633A>C (p.Lys545Gln)
c.1555A>C (p.Lys519Gln)
 dbSNP
10g.113588319A>GCA214443816HABP2c.1633A>G (p.Lys545Glu)
c.1555A>G (p.Lys519Glu)
 dbSNP
10g.113588319A>TCA378422369HABP2c.1633A>T (p.Lys545Ter)
c.1555A>T (p.Lys519Ter)
10g.113588320A>CCA378422375HABP2c.1634A>C (p.Lys545Thr)
c.1556A>C (p.Lys519Thr)
10g.113588320A>GCA378422373HABP2c.1634A>G (p.Lys545Arg)
c.1556A>G (p.Lys519Arg)
 gnomAD v4
10g.113588320A>TCA378422371HABP2c.1634A>T (p.Lys545Ile)
c.1556A>T (p.Lys519Ile)
10g.113588321A>CCA378422379HABP2c.1635A>C (p.Lys545Asn)
c.1557A>C (p.Lys519Asn)
10g.113588321A>GCA471517018HABP2c.1635A>G (p.Lys545=)
c.1557A>G (p.Lys519=)
10g.113588321A>TCA378422381HABP2c.1635A>T (p.Lys545Asn)
c.1557A>T (p.Lys519Asn)
10g.113588322T>ACA378422383HABP2c.1636T>A (p.Phe546Ile)
c.1558T>A (p.Phe520Ile)
10g.113588322T>CCA378422385HABP2c.1636T>C (p.Phe546Leu)
c.1558T>C (p.Phe520Leu)
10g.113588322T>GCA5694089HABP2c.1636T>G (p.Phe546Val)
c.1558T>G (p.Phe520Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.113588322T=CA1937429194HABP2c.1636T= (p.Phe546=)
c.1558T= (p.Phe520=)
10g.113588323T>ACA378422395HABP2c.1637T>A (p.Phe546Tyr)
c.1559T>A (p.Phe520Tyr)
10g.113588323T>CCA5694090HABP2c.1637T>C (p.Phe546Ser)
c.1559T>C (p.Phe520Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113588323T>GCA378422400HABP2c.1637T>G (p.Phe546Cys)
c.1559T>G (p.Phe520Cys)
10g.113588323T=CA1937429195HABP2c.1637T= (p.Phe546=)
c.1559T= (p.Phe520=)
10g.113588324C>ACA378422402HABP2c.1638C>A (p.Phe546Leu)
c.1560C>A (p.Phe520Leu)
10g.113588324C=CA1937429196HABP2c.1638C= (p.Phe546=)
c.1560C= (p.Phe520=)
10g.113588324C>GCA378422404HABP2c.1638C>G (p.Phe546Leu)
c.1560C>G (p.Phe520Leu)
10g.113588324C>TCA471517026HABP2c.1638C>T (p.Phe546=)
c.1560C>T (p.Phe520=)
 dbSNP gnomAD v2 gnomAD v4
10g.113588325C>ACA378422407HABP2c.1639C>A (p.Leu547Met)
c.1561C>A (p.Leu521Met)
10g.113588325C=CA1937429197HABP2c.1639C= (p.Leu547=)
c.1561C= (p.Leu521=)
10g.113588325C>GCA378422408HABP2c.1639C>G (p.Leu547Val)
c.1561C>G (p.Leu521Val)
10g.113588325C>TCA214443831HABP2c.1639C>T (p.Leu547=)
c.1561C>T (p.Leu521=)
 dbSNP gnomAD v3 gnomAD v4
10g.113588326T>ACA378422417HABP2c.1640T>A (p.Leu547Gln)
c.1562T>A (p.Leu521Gln)
10g.113588326T>CCA378422414HABP2c.1640T>C (p.Leu547Pro)
c.1562T>C (p.Leu521Pro)
10g.113588326T>GCA378422411HABP2c.1640T>G (p.Leu547Arg)
c.1562T>G (p.Leu521Arg)
10g.113588327G>ACA471517032HABP2c.1641G>A (p.Leu547=)
c.1563G>A (p.Leu521=)
 dbSNP gnomAD v2 gnomAD v4
10g.113588327G>CCA471517039HABP2c.1641G>C (p.Leu547=)
c.1563G>C (p.Leu521=)
10g.113588327G=CA1937429198HABP2c.1641G= (p.Leu547=)
c.1563G= (p.Leu521=)
10g.113588327G>TCA471517041HABP2c.1641G>T (p.Leu547=)
c.1563G>T (p.Leu521=)
10g.113588328A>CCA378422420HABP2c.1642A>C (p.Asn548His)
c.1564A>C (p.Asn522His)
10g.113588328A>GCA378422423HABP2c.1642A>G (p.Asn548Asp)
c.1564A>G (p.Asn522Asp)
 gnomAD v4
10g.113588328A>TCA378422430HABP2c.1642A>T (p.Asn548Tyr)
c.1564A>T (p.Asn522Tyr)
10g.113588329A=CA1937429199HABP2c.1643A= (p.Asn548=)
c.1565A= (p.Asn522=)
10g.113588329A>CCA378422433HABP2c.1643A>C (p.Asn548Thr)
c.1565A>C (p.Asn522Thr)
10g.113588329A>GCA214443833HABP2c.1643A>G (p.Asn548Ser)
c.1565A>G (p.Asn522Ser)
 dbSNP gnomAD v4
10g.113588329A>TCA378422438HABP2c.1643A>T (p.Asn548Ile)
c.1565A>T (p.Asn522Ile)
 gnomAD v4
10g.113588330T>ACA378422441HABP2c.1644T>A (p.Asn548Lys)
c.1566T>A (p.Asn522Lys)
 gnomAD v4
10g.113588330T>CCA5694091HABP2c.1644T>C (p.Asn548=)
c.1566T>C (p.Asn522=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113588330T>GCA378422446HABP2c.1644T>G (p.Asn548Lys)
c.1566T>G (p.Asn522Lys)
10g.113588330T=CA1937429200HABP2c.1644T= (p.Asn548=)
c.1566T= (p.Asn522=)
10g.113588331T>ACA378422449HABP2c.1645T>A (p.Trp549Arg)
c.1567T>A (p.Trp523Arg)
10g.113588331T>CCA378422451HABP2c.1645T>C (p.Trp549Arg)
c.1567T>C (p.Trp523Arg)
10g.113588331T>GCA378422454HABP2c.1645T>G (p.Trp549Gly)
c.1567T>G (p.Trp523Gly)
10g.113588332G>ACA5694092HABP2c.1646G>A (p.Trp549Ter)
c.1568G>A (p.Trp523Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113588332G>CCA378422463HABP2c.1646G>C (p.Trp549Ser)
c.1568G>C (p.Trp523Ser)
10g.113588332G=CA1937429201HABP2c.1646G= (p.Trp549=)
c.1568G= (p.Trp523=)
10g.113588332G>TCA378422459HABP2c.1646G>T (p.Trp549Leu)
c.1568G>T (p.Trp523Leu)
 gnomAD v4

Number of alleles fetched