Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.2934746_2934750dupCA2579543766ARSLc.*82_*86dup (n.*82_*86dup)
n.1632_1636dup
gnomAD v4
Xg.2934749_2934750delinsGACA2412580464ARSLc.*82_*83delinsTC (n.*82_*83delinsTC)
n.1632_1633delinsTC
Xg.2934750delCA640361182ARSLc.*82del (n.*82del)
n.1632del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.2934750A>TCA2579543767ARSLc.*82T>A (n.*82T>A)
n.1632T>A
Xg.2934751C>ACA2693015480ARSLc.*81G>T (n.*81G>T)
n.1631G>T
gnomAD v4
Xg.2934753A>GCA2693015481ARSLc.*79T>C (n.*79T>C)
n.1629T>C
gnomAD v4
Xg.2934754C>ACA2693015482ARSLc.*78G>T (n.*78G>T)
n.1628G>T
gnomAD v4
Xg.2934755C>TCA2579543768ARSLc.*77G>A (n.*77G>A)
n.1627G>A
gnomAD v4
Xg.2934756A>GCA2579543770ARSLc.*76T>C (n.*76T>C)
n.1626T>C
gnomAD v4
Xg.2934756A>TCA2579543769ARSLc.*76T>A (n.*76T>A)
n.1626T>A
Xg.2934757C>ACA2693015483ARSLc.*75G>T (n.*75G>T)
n.1625G>T
gnomAD v4
Xg.2934758delCA2579543771ARSLc.*75del (n.*75del)
n.1625del
Xg.2934758C>ACA2693015484ARSLc.*74G>T (n.*74G>T)
n.1624G>T
gnomAD v4
Xg.2934759A>CCA2693015485ARSLc.*73T>G (n.*73T>G)
n.1623T>G
gnomAD v4
Xg.2934760T>GCA2693015486ARSLc.*72A>C (n.*72A>C)
n.1622A>C
gnomAD v4
Xg.2934762delCA2693015487ARSLc.*71del (n.*71del)
n.1621del
gnomAD v4
Xg.2934762G>ACA2693015488ARSLc.*70C>T (n.*70C>T)
n.1620C>T
gnomAD v4
Xg.2934762G>TCA2693015489ARSLc.*70C>A (n.*70C>A)
n.1620C>A
gnomAD v4
Xg.2934763C>ACA2693015490ARSLc.*69G>T (n.*69G>T)
n.1619G>T
gnomAD v4
Xg.2934764C>GCA2693015491ARSLc.*68G>C (n.*68G>C)
n.1618G>C
gnomAD v4
Xg.2934766G>ACA2693015492ARSLc.*66C>T (n.*66C>T)
n.1616C>T
gnomAD v4
Xg.2934766G>CCA640361183ARSLc.*66C>G (n.*66C>G)
n.1616C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.2934766G=CA2412580465ARSLc.*66C= (n.*66C=)
n.1616C=
Xg.2934766G>TCA2579543772ARSLc.*66C>A (n.*66C>A)
n.1616C>A
gnomAD v4
Xg.2934767C>ACA2693015493ARSLc.*65G>T (n.*65G>T)
n.1615G>T
gnomAD v4
Xg.2934768T>ACA325998956ARSLc.*64A>T (n.*64A>T)
n.1614A>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.2934768T>CCA1130629181ARSLc.*64A>G (n.*64A>G)
n.1614A>G
dbSNP gnomAD v3 gnomAD v4
Xg.2934768T=CA2412580466ARSLc.*64A= (n.*64A=)
n.1614A=
Xg.2934769G>TCA2579543773ARSLc.*63C>A (n.*63C>A)
n.1613C>A
Xg.2934770G>ACA2693015495ARSLc.*62C>T (n.*62C>T)
n.1612C>T
gnomAD v4
Xg.2934770G>CCA2579543774ARSLc.*62C>G (n.*62C>G)
n.1612C>G
Xg.2934770G>TCA2579543775ARSLc.*62C>A (n.*62C>A)
n.1612C>A
gnomAD v4
Xg.2934774G>CCA640361184ARSLc.*58C>G (n.*58C>G)
n.1608C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.2934774G=CA2412580467ARSLc.*58C= (n.*58C=)
n.1608C=
Xg.2934774G>TCA2579543776ARSLc.*58C>A (n.*58C>A)
n.1608C>A
gnomAD v4
Xg.2934778C>ACA2693015496ARSLc.*54G>T (n.*54G>T)
n.1604G>T
gnomAD v4
Xg.2934778C>TCA2693015497ARSLc.*54G>A (n.*54G>A)
n.1604G>A
gnomAD v4
Xg.2934779A>CCA2693015498ARSLc.*53T>G (n.*53T>G)
n.1603T>G
gnomAD v4
Xg.2934782T>CCA10337960ARSLc.*50A>G (n.*50A>G)
n.1600A>G
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.2934782T=CA2412580468ARSLc.*50A= (n.*50A=)
n.1600A=
Xg.2934783T>CCA2579543777ARSLc.*49A>G (n.*49A>G)
n.1599A>G
Xg.2934785A>GCA2693015499ARSLc.*47T>C (n.*47T>C)
n.1597T>C
gnomAD v4
Xg.2934786G>ACA2693015500ARSLc.*46C>T (n.*46C>T)
n.1596C>T
gnomAD v4
Xg.2934787T>CCA2579543778ARSLc.*45A>G (n.*45A>G)
n.1595A>G
Xg.2934788G>TCA2579543779ARSLc.*44C>A (n.*44C>A)
n.1594C>A
Xg.2934790C>ACA2693015501ARSLc.*42G>T (n.*42G>T)
n.1592G>T
gnomAD v4
Xg.2934791A>GCA2693015502ARSLc.*41T>C (n.*41T>C)
n.1591T>C
gnomAD v4
Xg.2934792A=CA2412580469ARSLc.*40T= (n.*40T=)
n.1590T=
Xg.2934792A>CCA640361185ARSLc.*40T>G (n.*40T>G)
n.1590T>G
dbSNP gnomAD v2 gnomAD v4
Xg.2934792A>GCA10337961ARSLc.*40T>C (n.*40T>C)
n.1590T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.2934794A=CA2412580470ARSLc.*38T= (n.*38T=)
n.1588T=
Xg.2934794A>CCA2579543780ARSLc.*38T>G (n.*38T>G)
n.1588T>G
Xg.2934794A>TCA640361186ARSLc.*38T>A (n.*38T>A)
n.1588T>A
dbSNP gnomAD v2 gnomAD v4
Xg.2934796T>GCA2693015505ARSLc.*36A>C (n.*36A>C)
n.1586A>C
gnomAD v4
Xg.2934799G>TCA2693015506ARSLc.*33C>A (n.*33C>A)
n.1583C>A
gnomAD v4
Xg.2934801A=CA2412580471ARSLc.*31T= (n.*31T=)
n.1581T=
Xg.2934801A>CCA640361187ARSLc.*31T>G (n.*31T>G)
n.1581T>G
dbSNP gnomAD v2 gnomAD v4
Xg.2934801A>GCA640361188ARSLc.*31T>C (n.*31T>C)
n.1581T>C
dbSNP gnomAD v2 gnomAD v4
Xg.2934804C>ACA640361189ARSLc.*28G>T (n.*28G>T)
n.1578G>T
dbSNP gnomAD v2 gnomAD v4
Xg.2934804C=CA2412580472ARSLc.*28G= (n.*28G=)
n.1578G=
Xg.2934804C>GCA2693015508ARSLc.*28G>C (n.*28G>C)
n.1578G>C
gnomAD v4
Xg.2934804C>TCA640361190ARSLc.*28G>A (n.*28G>A)
n.1578G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.2934805G>ACA10337962ARSLc.*27C>T (n.*27C>T)
n.1577C>T
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.2934805G>CCA640361191ARSLc.*27C>G (n.*27C>G)
n.1577C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.2934805G=CA2412580473ARSLc.*27C= (n.*27C=)
n.1577C=
Xg.2934805G>TCA2693015509ARSLc.*27C>A (n.*27C>A)
n.1577C>A
gnomAD v4
Xg.2934808delCA2819447547ARSLc.*27del (n.*27del)
n.1577del
Xg.2934807G>ACA2693015510ARSLc.*25C>T (n.*25C>T)
n.1575C>T
gnomAD v4
Xg.2934807G=CA2412580474ARSLc.*25C= (n.*25C=)
n.1575C=
Xg.2934807G>TCA2412580475ARSLc.*25C>A (n.*25C>A)
n.1575C>A
dbSNP gnomAD v4
Xg.2934808G>ACA2693015511ARSLc.*24C>T (n.*24C>T)
n.1574C>T
gnomAD v4
Xg.2934808G>CCA2412580477ARSLc.*24C>G (n.*24C>G)
n.1574C>G
dbSNP
Xg.2934808G=CA2412580476ARSLc.*24C= (n.*24C=)
n.1574C=
Xg.2934808G>TCA2693015512ARSLc.*24C>A (n.*24C>A)
n.1574C>A
gnomAD v4
Xg.2934809C>ACA10337963ARSLc.*23G>T (n.*23G>T)
n.1573G>T
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.2934809C=CA2412580478ARSLc.*23G= (n.*23G=)
n.1573G=
Xg.2934812C=CA2412580479ARSLc.*20G= (n.*20G=)
n.1570G=
Xg.2934812C>TCA10337964ARSLc.*20G>A (n.*20G>A)
n.1570G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.2934814G>TCA2693015517ARSLc.*18C>A (n.*18C>A)
n.1568C>A
gnomAD v4
Xg.2934815C>ACA1130629190ARSLc.*17G>T (n.*17G>T)
n.1567G>T
dbSNP gnomAD v3 gnomAD v4
Xg.2934815C=CA2412580481ARSLc.*17G= (n.*17G=)
n.1567G=
Xg.2934815C>GCA2412580480ARSLc.*17G>C (n.*17G>C)
n.1567G>C
dbSNP gnomAD v4
Xg.2934817T>CCA2693015519ARSLc.*15A>G (n.*15A>G)
n.1565A>G
gnomAD v4
Xg.2934818T>CCA10337965ARSLc.*14A>G (n.*14A>G)
n.1564A>G
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.2934818T=CA2412580482ARSLc.*14A= (n.*14A=)
n.1564A=
Xg.2934819T>GCA10337966ARSLc.*13A>C (n.*13A>C)
n.1563A>C
dbSNP ExAC
Xg.2934819T=CA2412580483ARSLc.*13A= (n.*13A=)
n.1563A=
Xg.2934820C=CA2412580484ARSLc.*12G= (n.*12G=)
n.1562G=
Xg.2934820C>TCA874478856ARSLc.*12G>A (n.*12G>A)
n.1562G>A
dbSNP gnomAD v3 gnomAD v4
Xg.2934821A>GCA2514923110ARSLc.*11T>C (n.*11T>C)
n.1561T>C
gnomAD v4
Xg.2934824delCA2559227110ARSLc.*8del (n.*8del)
n.1558del
Xg.2934824G>ACA2693015520ARSLc.*8C>T (n.*8C>T)
n.1558C>T
gnomAD v4
Xg.2934826A>CCA2693015521ARSLc.*6T>G (n.*6T>G)
n.1556T>G
gnomAD v4
Xg.2934827G>TCA2693015522ARSLc.*5C>A (n.*5C>A)
n.1555C>A
gnomAD v4
Xg.2934828A>GCA2524418417ARSLc.*4T>C (n.*4T>C)
n.1554T>C
gnomAD v4
Xg.2934830A>GCA2693015523ARSLc.*2T>C (n.*2T>C)
n.1552T>C
gnomAD v4
Xg.2934833delCA2579543781ARSLc.*1del (n.*1del)
n.1551del
Xg.2934832T>ACA412275020ARSLc.1770A>T (p.Ter590Tyr)
c.1845A>T (p.Ter615Tyr)
c.1647A>T (p.Ter549Tyr)
c.1209A>T (p.Ter403Tyr)
n.1550A>T
c.1758A>T (p.Ter586Tyr)
c.1323A>T (p.Ter441Tyr)
c.1608A>T (p.Ter536Tyr)
c.1767A>T (p.Ter589Tyr)
c.1635A>T (p.Ter545Tyr)
c.1797A>T (p.Ter599Tyr)
c.1284A>T (p.Ter428Tyr)
Xg.2934832T>CCA515396241ARSLc.1770A>G (p.Ter590=)
c.1845A>G (p.Ter615=)
c.1647A>G (p.Ter549=)
c.1209A>G (p.Ter403=)
n.1550A>G
c.1758A>G (p.Ter586=)
c.1323A>G (p.Ter441=)
c.1608A>G (p.Ter536=)
c.1767A>G (p.Ter589=)
c.1635A>G (p.Ter545=)
c.1797A>G (p.Ter599=)
c.1284A>G (p.Ter428=)
Xg.2934832T>GCA412275021ARSLc.1770A>C (p.Ter590Tyr)
c.1845A>C (p.Ter615Tyr)
c.1647A>C (p.Ter549Tyr)
c.1209A>C (p.Ter403Tyr)
n.1550A>C
c.1758A>C (p.Ter586Tyr)
c.1323A>C (p.Ter441Tyr)
c.1608A>C (p.Ter536Tyr)
c.1767A>C (p.Ter589Tyr)
c.1635A>C (p.Ter545Tyr)
c.1797A>C (p.Ter599Tyr)
c.1284A>C (p.Ter428Tyr)
Xg.2934833T>ACA412275022ARSLc.1769A>T (p.Ter590Leu)
c.1844A>T (p.Ter615Leu)
c.1646A>T (p.Ter549Leu)
c.1208A>T (p.Ter403Leu)
n.1549A>T
c.1757A>T (p.Ter586Leu)
c.1322A>T (p.Ter441Leu)
c.1607A>T (p.Ter536Leu)
c.1766A>T (p.Ter589Leu)
c.1634A>T (p.Ter545Leu)
c.1796A>T (p.Ter599Leu)
c.1283A>T (p.Ter428Leu)
Xg.2934833T>CCA515396243ARSLc.1769A>G (p.Ter590=)
c.1844A>G (p.Ter615=)
c.1646A>G (p.Ter549=)
c.1208A>G (p.Ter403=)
n.1549A>G
c.1757A>G (p.Ter586=)
c.1322A>G (p.Ter441=)
c.1607A>G (p.Ter536=)
c.1766A>G (p.Ter589=)
c.1634A>G (p.Ter545=)
c.1796A>G (p.Ter599=)
c.1283A>G (p.Ter428=)
Xg.2934833T>GCA412275023ARSLc.1769A>C (p.Ter590Ser)
c.1844A>C (p.Ter615Ser)
c.1646A>C (p.Ter549Ser)
c.1208A>C (p.Ter403Ser)
n.1549A>C
c.1757A>C (p.Ter586Ser)
c.1322A>C (p.Ter441Ser)
c.1607A>C (p.Ter536Ser)
c.1766A>C (p.Ter589Ser)
c.1634A>C (p.Ter545Ser)
c.1796A>C (p.Ter599Ser)
c.1283A>C (p.Ter428Ser)
Xg.2934834A>CCA412275026ARSLc.1768T>G (p.Ter590Glu)
c.1843T>G (p.Ter615Glu)
c.1645T>G (p.Ter549Glu)
c.1207T>G (p.Ter403Glu)
n.1548T>G
c.1756T>G (p.Ter586Glu)
c.1321T>G (p.Ter441Glu)
c.1606T>G (p.Ter536Glu)
c.1765T>G (p.Ter589Glu)
c.1633T>G (p.Ter545Glu)
c.1795T>G (p.Ter599Glu)
c.1282T>G (p.Ter428Glu)
Xg.2934834A>GCA412275024ARSLc.1768T>C (p.Ter590Gln)
c.1843T>C (p.Ter615Gln)
c.1645T>C (p.Ter549Gln)
c.1207T>C (p.Ter403Gln)
n.1548T>C
c.1756T>C (p.Ter586Gln)
c.1321T>C (p.Ter441Gln)
c.1606T>C (p.Ter536Gln)
c.1765T>C (p.Ter589Gln)
c.1633T>C (p.Ter545Gln)
c.1795T>C (p.Ter599Gln)
c.1282T>C (p.Ter428Gln)
Xg.2934834A>TCA412275025ARSLc.1768T>A (p.Ter590Lys)
c.1843T>A (p.Ter615Lys)
c.1645T>A (p.Ter549Lys)
c.1207T>A (p.Ter403Lys)
n.1548T>A
c.1756T>A (p.Ter586Lys)
c.1321T>A (p.Ter441Lys)
c.1606T>A (p.Ter536Lys)
c.1765T>A (p.Ter589Lys)
c.1633T>A (p.Ter545Lys)
c.1795T>A (p.Ter599Lys)
c.1282T>A (p.Ter428Lys)
gnomAD v4
Xg.2934835T>ACA412275027ARSLc.1767A>T (p.Gln589His)
c.1842A>T (p.Gln614His)
c.1644A>T (p.Gln548His)
c.1206A>T (p.Gln402His)
n.1547A>T
c.1755A>T (p.Gln585His)
c.1320A>T (p.Gln440His)
c.1605A>T (p.Gln535His)
c.1764A>T (p.Gln588His)
c.1632A>T (p.Gln544His)
c.1794A>T (p.Gln598His)
c.1281A>T (p.Gln427His)
Xg.2934835T>CCA515396247ARSLc.1767A>G (p.Gln589=)
c.1842A>G (p.Gln614=)
c.1644A>G (p.Gln548=)
c.1206A>G (p.Gln402=)
n.1547A>G
c.1755A>G (p.Gln585=)
c.1320A>G (p.Gln440=)
c.1605A>G (p.Gln535=)
c.1764A>G (p.Gln588=)
c.1632A>G (p.Gln544=)
c.1794A>G (p.Gln598=)
c.1281A>G (p.Gln427=)
Xg.2934835T>GCA412275028ARSLc.1767A>C (p.Gln589His)
c.1842A>C (p.Gln614His)
c.1644A>C (p.Gln548His)
c.1206A>C (p.Gln402His)
n.1547A>C
c.1755A>C (p.Gln585His)
c.1320A>C (p.Gln440His)
c.1605A>C (p.Gln535His)
c.1764A>C (p.Gln588His)
c.1632A>C (p.Gln544His)
c.1794A>C (p.Gln598His)
c.1281A>C (p.Gln427His)
Xg.2934836T>ACA412275029ARSLc.1766A>T (p.Gln589Leu)
c.1841A>T (p.Gln614Leu)
c.1643A>T (p.Gln548Leu)
c.1205A>T (p.Gln402Leu)
n.1546A>T
c.1754A>T (p.Gln585Leu)
c.1319A>T (p.Gln440Leu)
c.1604A>T (p.Gln535Leu)
c.1763A>T (p.Gln588Leu)
c.1631A>T (p.Gln544Leu)
c.1793A>T (p.Gln598Leu)
c.1280A>T (p.Gln427Leu)
Xg.2934836T>CCA412275030ARSLc.1766A>G (p.Gln589Arg)
c.1841A>G (p.Gln614Arg)
c.1643A>G (p.Gln548Arg)
c.1205A>G (p.Gln402Arg)
n.1546A>G
c.1754A>G (p.Gln585Arg)
c.1319A>G (p.Gln440Arg)
c.1604A>G (p.Gln535Arg)
c.1763A>G (p.Gln588Arg)
c.1631A>G (p.Gln544Arg)
c.1793A>G (p.Gln598Arg)
c.1280A>G (p.Gln427Arg)
Xg.2934836T>GCA412275031ARSLc.1766A>C (p.Gln589Pro)
c.1841A>C (p.Gln614Pro)
c.1643A>C (p.Gln548Pro)
c.1205A>C (p.Gln402Pro)
n.1546A>C
c.1754A>C (p.Gln585Pro)
c.1319A>C (p.Gln440Pro)
c.1604A>C (p.Gln535Pro)
c.1763A>C (p.Gln588Pro)
c.1631A>C (p.Gln544Pro)
c.1793A>C (p.Gln598Pro)
c.1280A>C (p.Gln427Pro)
Xg.2934837G>ACA412275032ARSLc.1765C>T (p.Gln589Ter)
c.1840C>T (p.Gln614Ter)
c.1642C>T (p.Gln548Ter)
c.1204C>T (p.Gln402Ter)
n.1545C>T
c.1753C>T (p.Gln585Ter)
c.1318C>T (p.Gln440Ter)
c.1603C>T (p.Gln535Ter)
c.1762C>T (p.Gln588Ter)
c.1630C>T (p.Gln544Ter)
c.1792C>T (p.Gln598Ter)
c.1279C>T (p.Gln427Ter)
Xg.2934837G>CCA412275034ARSLc.1765C>G (p.Gln589Glu)
c.1840C>G (p.Gln614Glu)
c.1642C>G (p.Gln548Glu)
c.1204C>G (p.Gln402Glu)
n.1545C>G
c.1753C>G (p.Gln585Glu)
c.1318C>G (p.Gln440Glu)
c.1603C>G (p.Gln535Glu)
c.1762C>G (p.Gln588Glu)
c.1630C>G (p.Gln544Glu)
c.1792C>G (p.Gln598Glu)
c.1279C>G (p.Gln427Glu)
Xg.2934837G>TCA412275033ARSLc.1765C>A (p.Gln589Lys)
c.1840C>A (p.Gln614Lys)
c.1642C>A (p.Gln548Lys)
c.1204C>A (p.Gln402Lys)
n.1545C>A
c.1753C>A (p.Gln585Lys)
c.1318C>A (p.Gln440Lys)
c.1603C>A (p.Gln535Lys)
c.1762C>A (p.Gln588Lys)
c.1630C>A (p.Gln544Lys)
c.1792C>A (p.Gln598Lys)
c.1279C>A (p.Gln427Lys)
Xg.2934838T>ACA515396249ARSLc.1764A>T (p.Pro588=)
c.1839A>T (p.Pro613=)
c.1641A>T (p.Pro547=)
c.1203A>T (p.Pro401=)
n.1544A>T
c.1752A>T (p.Pro584=)
c.1317A>T (p.Pro439=)
c.1602A>T (p.Pro534=)
c.1761A>T (p.Pro587=)
c.1629A>T (p.Pro543=)
c.1791A>T (p.Pro597=)
c.1278A>T (p.Pro426=)
Xg.2934838T>CCA515396250ARSLc.1764A>G (p.Pro588=)
c.1839A>G (p.Pro613=)
c.1641A>G (p.Pro547=)
c.1203A>G (p.Pro401=)
n.1544A>G
c.1752A>G (p.Pro584=)
c.1317A>G (p.Pro439=)
c.1602A>G (p.Pro534=)
c.1761A>G (p.Pro587=)
c.1629A>G (p.Pro543=)
c.1791A>G (p.Pro597=)
c.1278A>G (p.Pro426=)
dbSNP
Xg.2934838T>GCA515396251ARSLc.1764A>C (p.Pro588=)
c.1839A>C (p.Pro613=)
c.1641A>C (p.Pro547=)
c.1203A>C (p.Pro401=)
n.1544A>C
c.1752A>C (p.Pro584=)
c.1317A>C (p.Pro439=)
c.1602A>C (p.Pro534=)
c.1761A>C (p.Pro587=)
c.1629A>C (p.Pro543=)
c.1791A>C (p.Pro597=)
c.1278A>C (p.Pro426=)
Xg.2934838T=CA2412580485ARSLc.1764A= (p.Pro588=)
c.1839A= (p.Pro613=)
c.1641A= (p.Pro547=)
c.1203A= (p.Pro401=)
n.1544A=
c.1752A= (p.Pro584=)
c.1317A= (p.Pro439=)
c.1602A= (p.Pro534=)
c.1761A= (p.Pro587=)
c.1629A= (p.Pro543=)
c.1791A= (p.Pro597=)
c.1278A= (p.Pro426=)
Xg.2934839G>ACA412275035ARSLc.1763C>T (p.Pro588Leu)
c.1838C>T (p.Pro613Leu)
c.1640C>T (p.Pro547Leu)
c.1202C>T (p.Pro401Leu)
n.1543C>T
c.1751C>T (p.Pro584Leu)
c.1316C>T (p.Pro439Leu)
c.1601C>T (p.Pro534Leu)
c.1760C>T (p.Pro587Leu)
c.1628C>T (p.Pro543Leu)
c.1790C>T (p.Pro597Leu)
c.1277C>T (p.Pro426Leu)
dbSNP gnomAD v2 gnomAD v4
Xg.2934839G>CCA412275036ARSLc.1763C>G (p.Pro588Arg)
c.1838C>G (p.Pro613Arg)
c.1640C>G (p.Pro547Arg)
c.1202C>G (p.Pro401Arg)
n.1543C>G
c.1751C>G (p.Pro584Arg)
c.1316C>G (p.Pro439Arg)
c.1601C>G (p.Pro534Arg)
c.1760C>G (p.Pro587Arg)
c.1628C>G (p.Pro543Arg)
c.1790C>G (p.Pro597Arg)
c.1277C>G (p.Pro426Arg)
Xg.2934839G=CA2412580486ARSLc.1763C= (p.Pro588=)
c.1838C= (p.Pro613=)
c.1640C= (p.Pro547=)
c.1202C= (p.Pro401=)
n.1543C=
c.1751C= (p.Pro584=)
c.1316C= (p.Pro439=)
c.1601C= (p.Pro534=)
c.1760C= (p.Pro587=)
c.1628C= (p.Pro543=)
c.1790C= (p.Pro597=)
c.1277C= (p.Pro426=)
Xg.2934839G>TCA412275037ARSLc.1763C>A (p.Pro588Gln)
c.1838C>A (p.Pro613Gln)
c.1640C>A (p.Pro547Gln)
c.1202C>A (p.Pro401Gln)
n.1543C>A
c.1751C>A (p.Pro584Gln)
c.1316C>A (p.Pro439Gln)
c.1601C>A (p.Pro534Gln)
c.1760C>A (p.Pro587Gln)
c.1628C>A (p.Pro543Gln)
c.1790C>A (p.Pro597Gln)
c.1277C>A (p.Pro426Gln)
Xg.2934841delCA2556464651ARSLc.1763del (p.Pro588HisfsTer7)
c.1838del (p.Pro613HisfsTer7)
c.1640del (p.Pro547HisfsTer7)
c.1202del (p.Pro401HisfsTer?)
n.1543del
c.1751del (p.Pro584HisfsTer7)
c.1316del (p.Pro439HisfsTer?)
c.1601del (p.Pro534HisfsTer7)
c.1838del (p.Pro613HisfsTer?)
c.1760del (p.Pro587HisfsTer7)
c.1628del (p.Pro543HisfsTer7)
c.1790del (p.Pro597HisfsTer7)
c.1277del (p.Pro426HisfsTer7)
c.1202del (p.Pro401HisfsTer7)
Xg.2934840G>ACA412275038ARSLc.1762C>T (p.Pro588Ser)
c.1837C>T (p.Pro613Ser)
c.1639C>T (p.Pro547Ser)
c.1201C>T (p.Pro401Ser)
n.1542C>T
c.1750C>T (p.Pro584Ser)
c.1315C>T (p.Pro439Ser)
c.1600C>T (p.Pro534Ser)
c.1759C>T (p.Pro587Ser)
c.1627C>T (p.Pro543Ser)
c.1789C>T (p.Pro597Ser)
c.1276C>T (p.Pro426Ser)
gnomAD v4
Xg.2934840G>CCA412275039ARSLc.1762C>G (p.Pro588Ala)
c.1837C>G (p.Pro613Ala)
c.1639C>G (p.Pro547Ala)
c.1201C>G (p.Pro401Ala)
n.1542C>G
c.1750C>G (p.Pro584Ala)
c.1315C>G (p.Pro439Ala)
c.1600C>G (p.Pro534Ala)
c.1759C>G (p.Pro587Ala)
c.1627C>G (p.Pro543Ala)
c.1789C>G (p.Pro597Ala)
c.1276C>G (p.Pro426Ala)
Xg.2934840G>TCA412275040ARSLc.1762C>A (p.Pro588Thr)
c.1837C>A (p.Pro613Thr)
c.1639C>A (p.Pro547Thr)
c.1201C>A (p.Pro401Thr)
n.1542C>A
c.1750C>A (p.Pro584Thr)
c.1315C>A (p.Pro439Thr)
c.1600C>A (p.Pro534Thr)
c.1759C>A (p.Pro587Thr)
c.1627C>A (p.Pro543Thr)
c.1789C>A (p.Pro597Thr)
c.1276C>A (p.Pro426Thr)
gnomAD v4
Xg.2934841G>ACA515396258ARSLc.1761C>T (p.Asp587=)
c.1836C>T (p.Asp612=)
c.1638C>T (p.Asp546=)
c.1200C>T (p.Asp400=)
n.1541C>T
c.1749C>T (p.Asp583=)
c.1314C>T (p.Asp438=)
c.1599C>T (p.Asp533=)
c.1758C>T (p.Asp586=)
c.1626C>T (p.Asp542=)
c.1788C>T (p.Asp596=)
c.1275C>T (p.Asp425=)
Xg.2934841G>CCA412275041ARSLc.1761C>G (p.Asp587Glu)
c.1836C>G (p.Asp612Glu)
c.1638C>G (p.Asp546Glu)
c.1200C>G (p.Asp400Glu)
n.1541C>G
c.1749C>G (p.Asp583Glu)
c.1314C>G (p.Asp438Glu)
c.1599C>G (p.Asp533Glu)
c.1758C>G (p.Asp586Glu)
c.1626C>G (p.Asp542Glu)
c.1788C>G (p.Asp596Glu)
c.1275C>G (p.Asp425Glu)
Xg.2934841G>TCA412275042ARSLc.1761C>A (p.Asp587Glu)
c.1836C>A (p.Asp612Glu)
c.1638C>A (p.Asp546Glu)
c.1200C>A (p.Asp400Glu)
n.1541C>A
c.1749C>A (p.Asp583Glu)
c.1314C>A (p.Asp438Glu)
c.1599C>A (p.Asp533Glu)
c.1758C>A (p.Asp586Glu)
c.1626C>A (p.Asp542Glu)
c.1788C>A (p.Asp596Glu)
c.1275C>A (p.Asp425Glu)
Xg.2934842T>ACA412275043ARSLc.1760A>T (p.Asp587Val)
c.1835A>T (p.Asp612Val)
c.1637A>T (p.Asp546Val)
c.1199A>T (p.Asp400Val)
n.1540A>T
c.1748A>T (p.Asp583Val)
c.1313A>T (p.Asp438Val)
c.1598A>T (p.Asp533Val)
c.1757A>T (p.Asp586Val)
c.1625A>T (p.Asp542Val)
c.1787A>T (p.Asp596Val)
c.1274A>T (p.Asp425Val)
Xg.2934842T>CCA412275044ARSLc.1760A>G (p.Asp587Gly)
c.1835A>G (p.Asp612Gly)
c.1637A>G (p.Asp546Gly)
c.1199A>G (p.Asp400Gly)
n.1540A>G
c.1748A>G (p.Asp583Gly)
c.1313A>G (p.Asp438Gly)
c.1598A>G (p.Asp533Gly)
c.1757A>G (p.Asp586Gly)
c.1625A>G (p.Asp542Gly)
c.1787A>G (p.Asp596Gly)
c.1274A>G (p.Asp425Gly)
Xg.2934842T>GCA412275045ARSLc.1760A>C (p.Asp587Ala)
c.1835A>C (p.Asp612Ala)
c.1637A>C (p.Asp546Ala)
c.1199A>C (p.Asp400Ala)
n.1540A>C
c.1748A>C (p.Asp583Ala)
c.1313A>C (p.Asp438Ala)
c.1598A>C (p.Asp533Ala)
c.1757A>C (p.Asp586Ala)
c.1625A>C (p.Asp542Ala)
c.1787A>C (p.Asp596Ala)
c.1274A>C (p.Asp425Ala)
Xg.2934843C>ACA412275046ARSLc.1759G>T (p.Asp587Tyr)
c.1834G>T (p.Asp612Tyr)
c.1636G>T (p.Asp546Tyr)
c.1198G>T (p.Asp400Tyr)
n.1539G>T
c.1747G>T (p.Asp583Tyr)
c.1312G>T (p.Asp438Tyr)
c.1597G>T (p.Asp533Tyr)
c.1756G>T (p.Asp586Tyr)
c.1624G>T (p.Asp542Tyr)
c.1786G>T (p.Asp596Tyr)
c.1273G>T (p.Asp425Tyr)
gnomAD v4
Xg.2934843C=CA2412580487ARSLc.1759G= (p.Asp587=)
c.1834G= (p.Asp612=)
c.1636G= (p.Asp546=)
c.1198G= (p.Asp400=)
n.1539G=
c.1747G= (p.Asp583=)
c.1312G= (p.Asp438=)
c.1597G= (p.Asp533=)
c.1756G= (p.Asp586=)
c.1624G= (p.Asp542=)
c.1786G= (p.Asp596=)
c.1273G= (p.Asp425=)
Xg.2934843C>GCA412275047ARSLc.1759G>C (p.Asp587His)
c.1834G>C (p.Asp612His)
c.1636G>C (p.Asp546His)
c.1198G>C (p.Asp400His)
n.1539G>C
c.1747G>C (p.Asp583His)
c.1312G>C (p.Asp438His)
c.1597G>C (p.Asp533His)
c.1756G>C (p.Asp586His)
c.1624G>C (p.Asp542His)
c.1786G>C (p.Asp596His)
c.1273G>C (p.Asp425His)
Xg.2934843C>TCA325999040ARSLc.1759G>A (p.Asp587Asn)
c.1834G>A (p.Asp612Asn)
c.1636G>A (p.Asp546Asn)
c.1198G>A (p.Asp400Asn)
n.1539G>A
c.1747G>A (p.Asp583Asn)
c.1312G>A (p.Asp438Asn)
c.1597G>A (p.Asp533Asn)
c.1756G>A (p.Asp586Asn)
c.1624G>A (p.Asp542Asn)
c.1786G>A (p.Asp596Asn)
c.1273G>A (p.Asp425Asn)
ClinVar dbSNP gnomAD v4
Xg.2934844A=CA2412580488ARSLc.1758T= (p.Asp586=)
c.1833T= (p.Asp611=)
c.1635T= (p.Asp545=)
c.1197T= (p.Asp399=)
n.1538T=
c.1746T= (p.Asp582=)
c.1311T= (p.Asp437=)
c.1596T= (p.Asp532=)
c.1755T= (p.Asp585=)
c.1623T= (p.Asp541=)
c.1785T= (p.Asp595=)
c.1272T= (p.Asp424=)
Xg.2934844A>CCA412275048ARSLc.1758T>G (p.Asp586Glu)
c.1833T>G (p.Asp611Glu)
c.1635T>G (p.Asp545Glu)
c.1197T>G (p.Asp399Glu)
n.1538T>G
c.1746T>G (p.Asp582Glu)
c.1311T>G (p.Asp437Glu)
c.1596T>G (p.Asp532Glu)
c.1755T>G (p.Asp585Glu)
c.1623T>G (p.Asp541Glu)
c.1785T>G (p.Asp595Glu)
c.1272T>G (p.Asp424Glu)
Xg.2934844A>GCA10337967ARSLc.1758T>C (p.Asp586=)
c.1833T>C (p.Asp611=)
c.1635T>C (p.Asp545=)
c.1197T>C (p.Asp399=)
n.1538T>C
c.1746T>C (p.Asp582=)
c.1311T>C (p.Asp437=)
c.1596T>C (p.Asp532=)
c.1755T>C (p.Asp585=)
c.1623T>C (p.Asp541=)
c.1785T>C (p.Asp595=)
c.1272T>C (p.Asp424=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.2934844A>TCA412275049ARSLc.1758T>A (p.Asp586Glu)
c.1833T>A (p.Asp611Glu)
c.1635T>A (p.Asp545Glu)
c.1197T>A (p.Asp399Glu)
n.1538T>A
c.1746T>A (p.Asp582Glu)
c.1311T>A (p.Asp437Glu)
c.1596T>A (p.Asp532Glu)
c.1755T>A (p.Asp585Glu)
c.1623T>A (p.Asp541Glu)
c.1785T>A (p.Asp595Glu)
c.1272T>A (p.Asp424Glu)
Xg.2934845T>ACA412275050ARSLc.1757A>T (p.Asp586Val)
c.1832A>T (p.Asp611Val)
c.1634A>T (p.Asp545Val)
c.1196A>T (p.Asp399Val)
n.1537A>T
c.1745A>T (p.Asp582Val)
c.1310A>T (p.Asp437Val)
c.1595A>T (p.Asp532Val)
c.1754A>T (p.Asp585Val)
c.1622A>T (p.Asp541Val)
c.1784A>T (p.Asp595Val)
c.1271A>T (p.Asp424Val)
Xg.2934845T>CCA412275051ARSLc.1757A>G (p.Asp586Gly)
c.1832A>G (p.Asp611Gly)
c.1634A>G (p.Asp545Gly)
c.1196A>G (p.Asp399Gly)
n.1537A>G
c.1745A>G (p.Asp582Gly)
c.1310A>G (p.Asp437Gly)
c.1595A>G (p.Asp532Gly)
c.1754A>G (p.Asp585Gly)
c.1622A>G (p.Asp541Gly)
c.1784A>G (p.Asp595Gly)
c.1271A>G (p.Asp424Gly)
gnomAD v4
Xg.2934845T>GCA412275052ARSLc.1757A>C (p.Asp586Ala)
c.1832A>C (p.Asp611Ala)
c.1634A>C (p.Asp545Ala)
c.1196A>C (p.Asp399Ala)
n.1537A>C
c.1745A>C (p.Asp582Ala)
c.1310A>C (p.Asp437Ala)
c.1595A>C (p.Asp532Ala)
c.1754A>C (p.Asp585Ala)
c.1622A>C (p.Asp541Ala)
c.1784A>C (p.Asp595Ala)
c.1271A>C (p.Asp424Ala)
Xg.2934846C>ACA412275053ARSLc.1756G>T (p.Asp586Tyr)
c.1831G>T (p.Asp611Tyr)
c.1633G>T (p.Asp545Tyr)
c.1195G>T (p.Asp399Tyr)
n.1536G>T
c.1744G>T (p.Asp582Tyr)
c.1309G>T (p.Asp437Tyr)
c.1594G>T (p.Asp532Tyr)
c.1753G>T (p.Asp585Tyr)
c.1621G>T (p.Asp541Tyr)
c.1783G>T (p.Asp595Tyr)
c.1270G>T (p.Asp424Tyr)
Xg.2934846C=CA2412580489ARSLc.1756G= (p.Asp586=)
c.1831G= (p.Asp611=)
c.1633G= (p.Asp545=)
c.1195G= (p.Asp399=)
n.1536G=
c.1744G= (p.Asp582=)
c.1309G= (p.Asp437=)
c.1594G= (p.Asp532=)
c.1753G= (p.Asp585=)
c.1621G= (p.Asp541=)
c.1783G= (p.Asp595=)
c.1270G= (p.Asp424=)
Xg.2934846C>GCA412275054ARSLc.1756G>C (p.Asp586His)
c.1831G>C (p.Asp611His)
c.1633G>C (p.Asp545His)
c.1195G>C (p.Asp399His)
n.1536G>C
c.1744G>C (p.Asp582His)
c.1309G>C (p.Asp437His)
c.1594G>C (p.Asp532His)
c.1753G>C (p.Asp585His)
c.1621G>C (p.Asp541His)
c.1783G>C (p.Asp595His)
c.1270G>C (p.Asp424His)
Xg.2934846C>TCA412275055ARSLc.1756G>A (p.Asp586Asn)
c.1831G>A (p.Asp611Asn)
c.1633G>A (p.Asp545Asn)
c.1195G>A (p.Asp399Asn)
n.1536G>A
c.1744G>A (p.Asp582Asn)
c.1309G>A (p.Asp437Asn)
c.1594G>A (p.Asp532Asn)
c.1753G>A (p.Asp585Asn)
c.1621G>A (p.Asp541Asn)
c.1783G>A (p.Asp595Asn)
c.1270G>A (p.Asp424Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.2934847T>ACA412275056ARSLc.1755A>T (p.Glu585Asp)
c.1830A>T (p.Glu610Asp)
c.1632A>T (p.Glu544Asp)
c.1194A>T (p.Glu398Asp)
n.1535A>T
c.1743A>T (p.Glu581Asp)
c.1308A>T (p.Glu436Asp)
c.1593A>T (p.Glu531Asp)
c.1752A>T (p.Glu584Asp)
c.1620A>T (p.Glu540Asp)
c.1782A>T (p.Glu594Asp)
c.1269A>T (p.Glu423Asp)
Xg.2934847T>CCA515396268ARSLc.1755A>G (p.Glu585=)
c.1830A>G (p.Glu610=)
c.1632A>G (p.Glu544=)
c.1194A>G (p.Glu398=)
n.1535A>G
c.1743A>G (p.Glu581=)
c.1308A>G (p.Glu436=)
c.1593A>G (p.Glu531=)
c.1752A>G (p.Glu584=)
c.1620A>G (p.Glu540=)
c.1782A>G (p.Glu594=)
c.1269A>G (p.Glu423=)
Xg.2934847T>GCA412275057ARSLc.1755A>C (p.Glu585Asp)
c.1830A>C (p.Glu610Asp)
c.1632A>C (p.Glu544Asp)
c.1194A>C (p.Glu398Asp)
n.1535A>C
c.1743A>C (p.Glu581Asp)
c.1308A>C (p.Glu436Asp)
c.1593A>C (p.Glu531Asp)
c.1752A>C (p.Glu584Asp)
c.1620A>C (p.Glu540Asp)
c.1782A>C (p.Glu594Asp)
c.1269A>C (p.Glu423Asp)
Xg.2934848delCA2579543782ARSLc.1755del (p.Asp586MetfsTer9)
c.1830del (p.Asp611MetfsTer9)
c.1632del (p.Asp545MetfsTer9)
c.1194del (p.Asp399MetfsTer?)
n.1535del
c.1743del (p.Asp582MetfsTer9)
c.1308del (p.Asp437MetfsTer?)
c.1593del (p.Asp532MetfsTer9)
c.1830del (p.Asp611MetfsTer?)
c.1752del (p.Asp585MetfsTer9)
c.1620del (p.Asp541MetfsTer9)
c.1782del (p.Asp595MetfsTer9)
c.1269del (p.Asp424MetfsTer9)
c.1194del (p.Asp399MetfsTer9)
Xg.2934848T>ACA412275058ARSLc.1754A>T (p.Glu585Val)
c.1829A>T (p.Glu610Val)
c.1631A>T (p.Glu544Val)
c.1193A>T (p.Glu398Val)
n.1534A>T
c.1742A>T (p.Glu581Val)
c.1307A>T (p.Glu436Val)
c.1592A>T (p.Glu531Val)
c.1751A>T (p.Glu584Val)
c.1619A>T (p.Glu540Val)
c.1781A>T (p.Glu594Val)
c.1268A>T (p.Glu423Val)
Xg.2934848T>CCA412275059ARSLc.1754A>G (p.Glu585Gly)
c.1829A>G (p.Glu610Gly)
c.1631A>G (p.Glu544Gly)
c.1193A>G (p.Glu398Gly)
n.1534A>G
c.1742A>G (p.Glu581Gly)
c.1307A>G (p.Glu436Gly)
c.1592A>G (p.Glu531Gly)
c.1751A>G (p.Glu584Gly)
c.1619A>G (p.Glu540Gly)
c.1781A>G (p.Glu594Gly)
c.1268A>G (p.Glu423Gly)
Xg.2934848T>GCA412275060ARSLc.1754A>C (p.Glu585Ala)
c.1829A>C (p.Glu610Ala)
c.1631A>C (p.Glu544Ala)
c.1193A>C (p.Glu398Ala)
n.1534A>C
c.1742A>C (p.Glu581Ala)
c.1307A>C (p.Glu436Ala)
c.1592A>C (p.Glu531Ala)
c.1751A>C (p.Glu584Ala)
c.1619A>C (p.Glu540Ala)
c.1781A>C (p.Glu594Ala)
c.1268A>C (p.Glu423Ala)
Xg.2934849C>ACA412275063ARSLc.1753G>T (p.Glu585Ter)
c.1828G>T (p.Glu610Ter)
c.1630G>T (p.Glu544Ter)
c.1192G>T (p.Glu398Ter)
n.1533G>T
c.1741G>T (p.Glu581Ter)
c.1306G>T (p.Glu436Ter)
c.1591G>T (p.Glu531Ter)
c.1750G>T (p.Glu584Ter)
c.1618G>T (p.Glu540Ter)
c.1780G>T (p.Glu594Ter)
c.1267G>T (p.Glu423Ter)
Xg.2934849C=CA2412580490ARSLc.1753G= (p.Glu585=)
c.1828G= (p.Glu610=)
c.1630G= (p.Glu544=)
c.1192G= (p.Glu398=)
n.1533G=
c.1741G= (p.Glu581=)
c.1306G= (p.Glu436=)
c.1591G= (p.Glu531=)
c.1750G= (p.Glu584=)
c.1618G= (p.Glu540=)
c.1780G= (p.Glu594=)
c.1267G= (p.Glu423=)
Xg.2934849C>GCA412275062ARSLc.1753G>C (p.Glu585Gln)
c.1828G>C (p.Glu610Gln)
c.1630G>C (p.Glu544Gln)
c.1192G>C (p.Glu398Gln)
n.1533G>C
c.1741G>C (p.Glu581Gln)
c.1306G>C (p.Glu436Gln)
c.1591G>C (p.Glu531Gln)
c.1750G>C (p.Glu584Gln)
c.1618G>C (p.Glu540Gln)
c.1780G>C (p.Glu594Gln)
c.1267G>C (p.Glu423Gln)
Xg.2934849C>TCA412275061ARSLc.1753G>A (p.Glu585Lys)
c.1828G>A (p.Glu610Lys)
c.1630G>A (p.Glu544Lys)
c.1192G>A (p.Glu398Lys)
n.1533G>A
c.1741G>A (p.Glu581Lys)
c.1306G>A (p.Glu436Lys)
c.1591G>A (p.Glu531Lys)
c.1750G>A (p.Glu584Lys)
c.1618G>A (p.Glu540Lys)
c.1780G>A (p.Glu594Lys)
c.1267G>A (p.Glu423Lys)
dbSNP gnomAD v2 gnomAD v4
Xg.2934851delCA2579543783ARSLc.1753del (p.Glu585LysfsTer10)
c.1828del (p.Glu610LysfsTer10)
c.1630del (p.Glu544LysfsTer10)
c.1192del (p.Glu398LysfsTer?)
n.1533del
c.1741del (p.Glu581LysfsTer10)
c.1306del (p.Glu436LysfsTer?)
c.1591del (p.Glu531LysfsTer10)
c.1828del (p.Glu610LysfsTer?)
c.1750del (p.Glu584LysfsTer10)
c.1618del (p.Glu540LysfsTer10)
c.1780del (p.Glu594LysfsTer10)
c.1267del (p.Glu423LysfsTer10)
c.1192del (p.Glu398LysfsTer10)
Xg.2934850C>ACA412275064ARSLc.1752G>T (p.Arg584Ser)
c.1827G>T (p.Arg609Ser)
c.1629G>T (p.Arg543Ser)
c.1191G>T (p.Arg397Ser)
n.1532G>T
c.1740G>T (p.Arg580Ser)
c.1305G>T (p.Arg435Ser)
c.1590G>T (p.Arg530Ser)
c.1749G>T (p.Arg583Ser)
c.1617G>T (p.Arg539Ser)
c.1779G>T (p.Arg593Ser)
c.1266G>T (p.Arg422Ser)
Xg.2934850C=CA2412580491ARSLc.1752G= (p.Arg584=)
c.1827G= (p.Arg609=)
c.1629G= (p.Arg543=)
c.1191G= (p.Arg397=)
n.1532G=
c.1740G= (p.Arg580=)
c.1305G= (p.Arg435=)
c.1590G= (p.Arg530=)
c.1749G= (p.Arg583=)
c.1617G= (p.Arg539=)
c.1779G= (p.Arg593=)
c.1266G= (p.Arg422=)
Xg.2934850C>GCA412275065ARSLc.1752G>C (p.Arg584Ser)
c.1827G>C (p.Arg609Ser)
c.1629G>C (p.Arg543Ser)
c.1191G>C (p.Arg397Ser)
n.1532G>C
c.1740G>C (p.Arg580Ser)
c.1305G>C (p.Arg435Ser)
c.1590G>C (p.Arg530Ser)
c.1749G>C (p.Arg583Ser)
c.1617G>C (p.Arg539Ser)
c.1779G>C (p.Arg593Ser)
c.1266G>C (p.Arg422Ser)
dbSNP
Xg.2934850C>TCA515396275ARSLc.1752G>A (p.Arg584=)
c.1827G>A (p.Arg609=)
c.1629G>A (p.Arg543=)
c.1191G>A (p.Arg397=)
n.1532G>A
c.1740G>A (p.Arg580=)
c.1305G>A (p.Arg435=)
c.1590G>A (p.Arg530=)
c.1749G>A (p.Arg583=)
c.1617G>A (p.Arg539=)
c.1779G>A (p.Arg593=)
c.1266G>A (p.Arg422=)

Number of alleles fetched