Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.243426516_243426520delinsAGTGTCA1230390616SDCCAG8c.1943_1947delinsAGTGT (p.Gln648=)
c.1046_1050delinsAGTGT (p.Gln349=)
n.150_154delinsAGTGT
c.1814_1818delinsAGTGT (p.Gln605=)
c.1520_1524delinsAGTGT (p.Gln507=)
c.1040_1044delinsAGTGT (p.Gln347=)
c.1022_1026delinsAGTGT (p.Gln341=)
c.1973_1977delinsAGTGT (p.Gln658=)
c.1844_1848delinsAGTGT (p.Gln615=)
c.1784_1788delinsAGTGT (p.Gln595=)
c.2069_2073delinsAGTGT (p.Gln690=)
c.2039_2043delinsAGTGT (p.Gln680=)
c.1880_1884delinsAGTGT (p.Gln627=)
c.1832_1836delinsAGTGT (p.Gln611=)
c.1655_1659delinsAGTGT (p.Gln552=)
c.1607_1611delinsAGTGT (p.Gln536=)
c.998_1002delinsAGTGT (p.Gln333=)
n.2093_2097delinsAGTGT
c.1649_1653delinsAGTGT (p.Gln550=)
c.1706_1710delinsAGTGT (p.Gln569=)
c.1745_1749delinsAGTGT (p.Gln582=)
c.1412_1416delinsAGTGT (p.Gln471=)
n.1985_1989delinsAGTGT
n.1876_1880delinsAGTGT
1g.243426517_243426522delinsGTGTGTCA1144229334SDCCAG8c.1944_1949delinsGTGTGT (p.Gln648=)
c.1047_1052delinsGTGTGT (p.Gln349=)
n.151_156delinsGTGTGT
c.1815_1820delinsGTGTGT (p.Gln605=)
c.1521_1526delinsGTGTGT (p.Gln507=)
c.1041_1046delinsGTGTGT (p.Gln347=)
c.1023_1028delinsGTGTGT (p.Gln341=)
c.1974_1979delinsGTGTGT (p.Gln658=)
c.1845_1850delinsGTGTGT (p.Gln615=)
c.1785_1790delinsGTGTGT (p.Gln595=)
c.2070_2075delinsGTGTGT (p.Gln690=)
c.2040_2045delinsGTGTGT (p.Gln680=)
c.1881_1886delinsGTGTGT (p.Gln627=)
c.1833_1838delinsGTGTGT (p.Gln611=)
c.1656_1661delinsGTGTGT (p.Gln552=)
c.1608_1613delinsGTGTGT (p.Gln536=)
c.999_1004delinsGTGTGT (p.Gln333=)
n.2094_2099delinsGTGTGT
c.1650_1655delinsGTGTGT (p.Gln550=)
c.1707_1712delinsGTGTGT (p.Gln569=)
c.1746_1751delinsGTGTGT (p.Gln582=)
c.1413_1418delinsGTGTGT (p.Gln471=)
n.1986_1991delinsGTGTGT
n.1877_1882delinsGTGTGT
1g.243426519_243426522delCA113828SDCCAG8c.1946_1949del (p.Cys649SerfsTer10)
c.1049_1052del (p.Cys350SerfsTer10)
n.153_156del
c.1817_1820del (p.Cys606SerfsTer10)
c.1523_1526del (p.Cys508SerfsTer10)
c.1043_1046del (p.Cys348SerfsTer10)
c.1025_1028del (p.Cys342SerfsTer10)
c.1976_1979del (p.Cys659SerfsTer10)
c.1847_1850del (p.Cys616SerfsTer10)
c.1787_1790del (p.Cys596SerfsTer10)
c.2072_2075del (p.Cys691SerfsTer10)
c.2042_2045del (p.Cys681SerfsTer10)
c.1883_1886del (p.Cys628SerfsTer10)
c.1835_1838del (p.Cys612SerfsTer10)
c.1658_1661del (p.Cys553SerfsTer10)
c.1610_1613del (p.Cys537SerfsTer10)
c.1001_1004del (p.Cys334SerfsTer10)
n.2096_2099del
c.1652_1655del (p.Cys551SerfsTer10)
c.1709_1712del (p.Cys570SerfsTer10)
c.1748_1751del (p.Cys583SerfsTer10)
c.1415_1418del (p.Cys472SerfsTer10)
n.1988_1991del
n.1879_1882del
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.243426519G>ACA345667848SDCCAG8c.1946G>A (p.Cys649Tyr)
c.1049G>A (p.Cys350Tyr)
n.153G>A
c.1817G>A (p.Cys606Tyr)
c.1523G>A (p.Cys508Tyr)
c.1043G>A (p.Cys348Tyr)
c.1025G>A (p.Cys342Tyr)
c.1976G>A (p.Cys659Tyr)
c.1847G>A (p.Cys616Tyr)
c.1787G>A (p.Cys596Tyr)
c.2072G>A (p.Cys691Tyr)
c.2042G>A (p.Cys681Tyr)
c.1883G>A (p.Cys628Tyr)
c.1835G>A (p.Cys612Tyr)
c.1658G>A (p.Cys553Tyr)
c.1610G>A (p.Cys537Tyr)
c.1001G>A (p.Cys334Tyr)
n.2096G>A
c.1652G>A (p.Cys551Tyr)
c.1709G>A (p.Cys570Tyr)
c.1748G>A (p.Cys583Tyr)
c.1415G>A (p.Cys472Tyr)
n.1988G>A
n.1879G>A
1g.243426519G>CCA345667849SDCCAG8c.1946G>C (p.Cys649Ser)
c.1049G>C (p.Cys350Ser)
n.153G>C
c.1817G>C (p.Cys606Ser)
c.1523G>C (p.Cys508Ser)
c.1043G>C (p.Cys348Ser)
c.1025G>C (p.Cys342Ser)
c.1976G>C (p.Cys659Ser)
c.1847G>C (p.Cys616Ser)
c.1787G>C (p.Cys596Ser)
c.2072G>C (p.Cys691Ser)
c.2042G>C (p.Cys681Ser)
c.1883G>C (p.Cys628Ser)
c.1835G>C (p.Cys612Ser)
c.1658G>C (p.Cys553Ser)
c.1610G>C (p.Cys537Ser)
c.1001G>C (p.Cys334Ser)
n.2096G>C
c.1652G>C (p.Cys551Ser)
c.1709G>C (p.Cys570Ser)
c.1748G>C (p.Cys583Ser)
c.1415G>C (p.Cys472Ser)
n.1988G>C
n.1879G>C
1g.243426519G>TCA345667850SDCCAG8c.1946G>T (p.Cys649Phe)
c.1049G>T (p.Cys350Phe)
n.153G>T
c.1817G>T (p.Cys606Phe)
c.1523G>T (p.Cys508Phe)
c.1043G>T (p.Cys348Phe)
c.1025G>T (p.Cys342Phe)
c.1976G>T (p.Cys659Phe)
c.1847G>T (p.Cys616Phe)
c.1787G>T (p.Cys596Phe)
c.2072G>T (p.Cys691Phe)
c.2042G>T (p.Cys681Phe)
c.1883G>T (p.Cys628Phe)
c.1835G>T (p.Cys612Phe)
c.1658G>T (p.Cys553Phe)
c.1610G>T (p.Cys537Phe)
c.1001G>T (p.Cys334Phe)
n.2096G>T
c.1652G>T (p.Cys551Phe)
c.1709G>T (p.Cys570Phe)
c.1748G>T (p.Cys583Phe)
c.1415G>T (p.Cys472Phe)
n.1988G>T
n.1879G>T
 COSMIC
1g.243426520T>ACA345667851SDCCAG8c.1947T>A (p.Cys649Ter)
c.1050T>A (p.Cys350Ter)
n.154T>A
c.1818T>A (p.Cys606Ter)
c.1524T>A (p.Cys508Ter)
c.1044T>A (p.Cys348Ter)
c.1026T>A (p.Cys342Ter)
c.1977T>A (p.Cys659Ter)
c.1848T>A (p.Cys616Ter)
c.1788T>A (p.Cys596Ter)
c.2073T>A (p.Cys691Ter)
c.2043T>A (p.Cys681Ter)
c.1884T>A (p.Cys628Ter)
c.1836T>A (p.Cys612Ter)
c.1659T>A (p.Cys553Ter)
c.1611T>A (p.Cys537Ter)
c.1002T>A (p.Cys334Ter)
n.2097T>A
c.1653T>A (p.Cys551Ter)
c.1710T>A (p.Cys570Ter)
c.1749T>A (p.Cys583Ter)
c.1416T>A (p.Cys472Ter)
n.1989T>A
n.1880T>A
1g.243426520T>CCA424346880SDCCAG8c.1947T>C (p.Cys649=)
c.1050T>C (p.Cys350=)
n.154T>C
c.1818T>C (p.Cys606=)
c.1524T>C (p.Cys508=)
c.1044T>C (p.Cys348=)
c.1026T>C (p.Cys342=)
c.1977T>C (p.Cys659=)
c.1848T>C (p.Cys616=)
c.1788T>C (p.Cys596=)
c.2073T>C (p.Cys691=)
c.2043T>C (p.Cys681=)
c.1884T>C (p.Cys628=)
c.1836T>C (p.Cys612=)
c.1659T>C (p.Cys553=)
c.1611T>C (p.Cys537=)
c.1002T>C (p.Cys334=)
n.2097T>C
c.1653T>C (p.Cys551=)
c.1710T>C (p.Cys570=)
c.1749T>C (p.Cys583=)
c.1416T>C (p.Cys472=)
n.1989T>C
n.1880T>C
1g.243426520T>GCA345667852SDCCAG8c.1947T>G (p.Cys649Trp)
c.1050T>G (p.Cys350Trp)
n.154T>G
c.1818T>G (p.Cys606Trp)
c.1524T>G (p.Cys508Trp)
c.1044T>G (p.Cys348Trp)
c.1026T>G (p.Cys342Trp)
c.1977T>G (p.Cys659Trp)
c.1848T>G (p.Cys616Trp)
c.1788T>G (p.Cys596Trp)
c.2073T>G (p.Cys691Trp)
c.2043T>G (p.Cys681Trp)
c.1884T>G (p.Cys628Trp)
c.1836T>G (p.Cys612Trp)
c.1659T>G (p.Cys553Trp)
c.1611T>G (p.Cys537Trp)
c.1002T>G (p.Cys334Trp)
n.2097T>G
c.1653T>G (p.Cys551Trp)
c.1710T>G (p.Cys570Trp)
c.1749T>G (p.Cys583Trp)
c.1416T>G (p.Cys472Trp)
n.1989T>G
n.1880T>G
1g.243426521G>ACA345667855SDCCAG8c.1948G>A (p.Val650Ile)
c.1051G>A (p.Val351Ile)
n.155G>A
c.1819G>A (p.Val607Ile)
c.1525G>A (p.Val509Ile)
c.1045G>A (p.Val349Ile)
c.1027G>A (p.Val343Ile)
c.1978G>A (p.Val660Ile)
c.1849G>A (p.Val617Ile)
c.1789G>A (p.Val597Ile)
c.2074G>A (p.Val692Ile)
c.2044G>A (p.Val682Ile)
c.1885G>A (p.Val629Ile)
c.1837G>A (p.Val613Ile)
c.1660G>A (p.Val554Ile)
c.1612G>A (p.Val538Ile)
c.1003G>A (p.Val335Ile)
n.2098G>A
c.1654G>A (p.Val552Ile)
c.1711G>A (p.Val571Ile)
c.1750G>A (p.Val584Ile)
c.1417G>A (p.Val473Ile)
n.1990G>A
n.1881G>A
 gnomAD v4
1g.243426521G>CCA345667853SDCCAG8c.1948G>C (p.Val650Leu)
c.1051G>C (p.Val351Leu)
n.155G>C
c.1819G>C (p.Val607Leu)
c.1525G>C (p.Val509Leu)
c.1045G>C (p.Val349Leu)
c.1027G>C (p.Val343Leu)
c.1978G>C (p.Val660Leu)
c.1849G>C (p.Val617Leu)
c.1789G>C (p.Val597Leu)
c.2074G>C (p.Val692Leu)
c.2044G>C (p.Val682Leu)
c.1885G>C (p.Val629Leu)
c.1837G>C (p.Val613Leu)
c.1660G>C (p.Val554Leu)
c.1612G>C (p.Val538Leu)
c.1003G>C (p.Val335Leu)
n.2098G>C
c.1654G>C (p.Val552Leu)
c.1711G>C (p.Val571Leu)
c.1750G>C (p.Val584Leu)
c.1417G>C (p.Val473Leu)
n.1990G>C
n.1881G>C
1g.243426521G>TCA345667854SDCCAG8c.1948G>T (p.Val650Phe)
c.1051G>T (p.Val351Phe)
n.155G>T
c.1819G>T (p.Val607Phe)
c.1525G>T (p.Val509Phe)
c.1045G>T (p.Val349Phe)
c.1027G>T (p.Val343Phe)
c.1978G>T (p.Val660Phe)
c.1849G>T (p.Val617Phe)
c.1789G>T (p.Val597Phe)
c.2074G>T (p.Val692Phe)
c.2044G>T (p.Val682Phe)
c.1885G>T (p.Val629Phe)
c.1837G>T (p.Val613Phe)
c.1660G>T (p.Val554Phe)
c.1612G>T (p.Val538Phe)
c.1003G>T (p.Val335Phe)
n.2098G>T
c.1654G>T (p.Val552Phe)
c.1711G>T (p.Val571Phe)
c.1750G>T (p.Val584Phe)
c.1417G>T (p.Val473Phe)
n.1990G>T
n.1881G>T
 dbSNP gnomAD v4
1g.243426522T>ACA345667856SDCCAG8c.1949T>A (p.Val650Asp)
c.1052T>A (p.Val351Asp)
n.156T>A
c.1820T>A (p.Val607Asp)
c.1526T>A (p.Val509Asp)
c.1046T>A (p.Val349Asp)
c.1028T>A (p.Val343Asp)
c.1979T>A (p.Val660Asp)
c.1850T>A (p.Val617Asp)
c.1790T>A (p.Val597Asp)
c.2075T>A (p.Val692Asp)
c.2045T>A (p.Val682Asp)
c.1886T>A (p.Val629Asp)
c.1838T>A (p.Val613Asp)
c.1661T>A (p.Val554Asp)
c.1613T>A (p.Val538Asp)
c.1004T>A (p.Val335Asp)
n.2099T>A
c.1655T>A (p.Val552Asp)
c.1712T>A (p.Val571Asp)
c.1751T>A (p.Val584Asp)
c.1418T>A (p.Val473Asp)
n.1991T>A
n.1882T>A
1g.243426522T>CCA345667857SDCCAG8c.1949T>C (p.Val650Ala)
c.1052T>C (p.Val351Ala)
n.156T>C
c.1820T>C (p.Val607Ala)
c.1526T>C (p.Val509Ala)
c.1046T>C (p.Val349Ala)
c.1028T>C (p.Val343Ala)
c.1979T>C (p.Val660Ala)
c.1850T>C (p.Val617Ala)
c.1790T>C (p.Val597Ala)
c.2075T>C (p.Val692Ala)
c.2045T>C (p.Val682Ala)
c.1886T>C (p.Val629Ala)
c.1838T>C (p.Val613Ala)
c.1661T>C (p.Val554Ala)
c.1613T>C (p.Val538Ala)
c.1004T>C (p.Val335Ala)
n.2099T>C
c.1655T>C (p.Val552Ala)
c.1712T>C (p.Val571Ala)
c.1751T>C (p.Val584Ala)
c.1418T>C (p.Val473Ala)
n.1991T>C
n.1882T>C
1g.243426522T>GCA345667858SDCCAG8c.1949T>G (p.Val650Gly)
c.1052T>G (p.Val351Gly)
n.156T>G
c.1820T>G (p.Val607Gly)
c.1526T>G (p.Val509Gly)
c.1046T>G (p.Val349Gly)
c.1028T>G (p.Val343Gly)
c.1979T>G (p.Val660Gly)
c.1850T>G (p.Val617Gly)
c.1790T>G (p.Val597Gly)
c.2075T>G (p.Val692Gly)
c.2045T>G (p.Val682Gly)
c.1886T>G (p.Val629Gly)
c.1838T>G (p.Val613Gly)
c.1661T>G (p.Val554Gly)
c.1613T>G (p.Val538Gly)
c.1004T>G (p.Val335Gly)
n.2099T>G
c.1655T>G (p.Val552Gly)
c.1712T>G (p.Val571Gly)
c.1751T>G (p.Val584Gly)
c.1418T>G (p.Val473Gly)
n.1991T>G
n.1882T>G
1g.243426523C>ACA424346883SDCCAG8c.1950C>A (p.Val650=)
c.1053C>A (p.Val351=)
n.157C>A
c.1821C>A (p.Val607=)
c.1527C>A (p.Val509=)
c.1047C>A (p.Val349=)
c.1029C>A (p.Val343=)
c.1980C>A (p.Val660=)
c.1851C>A (p.Val617=)
c.1791C>A (p.Val597=)
c.2076C>A (p.Val692=)
c.2046C>A (p.Val682=)
c.1887C>A (p.Val629=)
c.1839C>A (p.Val613=)
c.1662C>A (p.Val554=)
c.1614C>A (p.Val538=)
c.1005C>A (p.Val335=)
n.2100C>A
c.1656C>A (p.Val552=)
c.1713C>A (p.Val571=)
c.1752C>A (p.Val584=)
c.1419C>A (p.Val473=)
n.1992C>A
n.1883C>A
 gnomAD v4
1g.243426523C>GCA424346882SDCCAG8c.1950C>G (p.Val650=)
c.1053C>G (p.Val351=)
n.157C>G
c.1821C>G (p.Val607=)
c.1527C>G (p.Val509=)
c.1047C>G (p.Val349=)
c.1029C>G (p.Val343=)
c.1980C>G (p.Val660=)
c.1851C>G (p.Val617=)
c.1791C>G (p.Val597=)
c.2076C>G (p.Val692=)
c.2046C>G (p.Val682=)
c.1887C>G (p.Val629=)
c.1839C>G (p.Val613=)
c.1662C>G (p.Val554=)
c.1614C>G (p.Val538=)
c.1005C>G (p.Val335=)
n.2100C>G
c.1656C>G (p.Val552=)
c.1713C>G (p.Val571=)
c.1752C>G (p.Val584=)
c.1419C>G (p.Val473=)
n.1992C>G
n.1883C>G
1g.243426523C>TCA424346881SDCCAG8c.1950C>T (p.Val650=)
c.1053C>T (p.Val351=)
n.157C>T
c.1821C>T (p.Val607=)
c.1527C>T (p.Val509=)
c.1047C>T (p.Val349=)
c.1029C>T (p.Val343=)
c.1980C>T (p.Val660=)
c.1851C>T (p.Val617=)
c.1791C>T (p.Val597=)
c.2076C>T (p.Val692=)
c.2046C>T (p.Val682=)
c.1887C>T (p.Val629=)
c.1839C>T (p.Val613=)
c.1662C>T (p.Val554=)
c.1614C>T (p.Val538=)
c.1005C>T (p.Val335=)
n.2100C>T
c.1656C>T (p.Val552=)
c.1713C>T (p.Val571=)
c.1752C>T (p.Val584=)
c.1419C>T (p.Val473=)
n.1992C>T
n.1883C>T
1g.243426524C>ACA345667859SDCCAG8c.1951C>A (p.Gln651Lys)
c.1054C>A (p.Gln352Lys)
n.158C>A
c.1822C>A (p.Gln608Lys)
c.1528C>A (p.Gln510Lys)
c.1048C>A (p.Gln350Lys)
c.1030C>A (p.Gln344Lys)
c.1981C>A (p.Gln661Lys)
c.1852C>A (p.Gln618Lys)
c.1792C>A (p.Gln598Lys)
c.2077C>A (p.Gln693Lys)
c.2047C>A (p.Gln683Lys)
c.1888C>A (p.Gln630Lys)
c.1840C>A (p.Gln614Lys)
c.1663C>A (p.Gln555Lys)
c.1615C>A (p.Gln539Lys)
c.1006C>A (p.Gln336Lys)
n.2101C>A
c.1657C>A (p.Gln553Lys)
c.1714C>A (p.Gln572Lys)
c.1753C>A (p.Gln585Lys)
c.1420C>A (p.Gln474Lys)
n.1993C>A
n.1884C>A
1g.243426524C>GCA345667860SDCCAG8c.1951C>G (p.Gln651Glu)
c.1054C>G (p.Gln352Glu)
n.158C>G
c.1822C>G (p.Gln608Glu)
c.1528C>G (p.Gln510Glu)
c.1048C>G (p.Gln350Glu)
c.1030C>G (p.Gln344Glu)
c.1981C>G (p.Gln661Glu)
c.1852C>G (p.Gln618Glu)
c.1792C>G (p.Gln598Glu)
c.2077C>G (p.Gln693Glu)
c.2047C>G (p.Gln683Glu)
c.1888C>G (p.Gln630Glu)
c.1840C>G (p.Gln614Glu)
c.1663C>G (p.Gln555Glu)
c.1615C>G (p.Gln539Glu)
c.1006C>G (p.Gln336Glu)
n.2101C>G
c.1657C>G (p.Gln553Glu)
c.1714C>G (p.Gln572Glu)
c.1753C>G (p.Gln585Glu)
c.1420C>G (p.Gln474Glu)
n.1993C>G
n.1884C>G
1g.243426524C>TCA345667861SDCCAG8c.1951C>T (p.Gln651Ter)
c.1054C>T (p.Gln352Ter)
n.158C>T
c.1822C>T (p.Gln608Ter)
c.1528C>T (p.Gln510Ter)
c.1048C>T (p.Gln350Ter)
c.1030C>T (p.Gln344Ter)
c.1981C>T (p.Gln661Ter)
c.1852C>T (p.Gln618Ter)
c.1792C>T (p.Gln598Ter)
c.2077C>T (p.Gln693Ter)
c.2047C>T (p.Gln683Ter)
c.1888C>T (p.Gln630Ter)
c.1840C>T (p.Gln614Ter)
c.1663C>T (p.Gln555Ter)
c.1615C>T (p.Gln539Ter)
c.1006C>T (p.Gln336Ter)
n.2101C>T
c.1657C>T (p.Gln553Ter)
c.1714C>T (p.Gln572Ter)
c.1753C>T (p.Gln585Ter)
c.1420C>T (p.Gln474Ter)
n.1993C>T
n.1884C>T
1g.243426525A>CCA345667862SDCCAG8c.1952A>C (p.Gln651Pro)
c.1055A>C (p.Gln352Pro)
n.159A>C
c.1823A>C (p.Gln608Pro)
c.1529A>C (p.Gln510Pro)
c.1049A>C (p.Gln350Pro)
c.1031A>C (p.Gln344Pro)
c.1982A>C (p.Gln661Pro)
c.1853A>C (p.Gln618Pro)
c.1793A>C (p.Gln598Pro)
c.2078A>C (p.Gln693Pro)
c.2048A>C (p.Gln683Pro)
c.1889A>C (p.Gln630Pro)
c.1841A>C (p.Gln614Pro)
c.1664A>C (p.Gln555Pro)
c.1616A>C (p.Gln539Pro)
c.1007A>C (p.Gln336Pro)
n.2102A>C
c.1658A>C (p.Gln553Pro)
c.1715A>C (p.Gln572Pro)
c.1754A>C (p.Gln585Pro)
c.1421A>C (p.Gln474Pro)
n.1994A>C
n.1885A>C
1g.243426525A>GCA345667863SDCCAG8c.1952A>G (p.Gln651Arg)
c.1055A>G (p.Gln352Arg)
n.159A>G
c.1823A>G (p.Gln608Arg)
c.1529A>G (p.Gln510Arg)
c.1049A>G (p.Gln350Arg)
c.1031A>G (p.Gln344Arg)
c.1982A>G (p.Gln661Arg)
c.1853A>G (p.Gln618Arg)
c.1793A>G (p.Gln598Arg)
c.2078A>G (p.Gln693Arg)
c.2048A>G (p.Gln683Arg)
c.1889A>G (p.Gln630Arg)
c.1841A>G (p.Gln614Arg)
c.1664A>G (p.Gln555Arg)
c.1616A>G (p.Gln539Arg)
c.1007A>G (p.Gln336Arg)
n.2102A>G
c.1658A>G (p.Gln553Arg)
c.1715A>G (p.Gln572Arg)
c.1754A>G (p.Gln585Arg)
c.1421A>G (p.Gln474Arg)
n.1994A>G
n.1885A>G
1g.243426525A>TCA345667864SDCCAG8c.1952A>T (p.Gln651Leu)
c.1055A>T (p.Gln352Leu)
n.159A>T
c.1823A>T (p.Gln608Leu)
c.1529A>T (p.Gln510Leu)
c.1049A>T (p.Gln350Leu)
c.1031A>T (p.Gln344Leu)
c.1982A>T (p.Gln661Leu)
c.1853A>T (p.Gln618Leu)
c.1793A>T (p.Gln598Leu)
c.2078A>T (p.Gln693Leu)
c.2048A>T (p.Gln683Leu)
c.1889A>T (p.Gln630Leu)
c.1841A>T (p.Gln614Leu)
c.1664A>T (p.Gln555Leu)
c.1616A>T (p.Gln539Leu)
c.1007A>T (p.Gln336Leu)
n.2102A>T
c.1658A>T (p.Gln553Leu)
c.1715A>T (p.Gln572Leu)
c.1754A>T (p.Gln585Leu)
c.1421A>T (p.Gln474Leu)
n.1994A>T
n.1885A>T
1g.243426526G>ACA424346884SDCCAG8c.1953G>A (p.Gln651=)
c.1056G>A (p.Gln352=)
n.160G>A
c.1824G>A (p.Gln608=)
c.1530G>A (p.Gln510=)
c.1050G>A (p.Gln350=)
c.1032G>A (p.Gln344=)
c.1983G>A (p.Gln661=)
c.1854G>A (p.Gln618=)
c.1794G>A (p.Gln598=)
c.2079G>A (p.Gln693=)
c.2049G>A (p.Gln683=)
c.1890G>A (p.Gln630=)
c.1842G>A (p.Gln614=)
c.1665G>A (p.Gln555=)
c.1617G>A (p.Gln539=)
c.1008G>A (p.Gln336=)
n.2103G>A
c.1659G>A (p.Gln553=)
c.1716G>A (p.Gln572=)
c.1755G>A (p.Gln585=)
c.1422G>A (p.Gln474=)
n.1995G>A
n.1886G>A
1g.243426526G>CCA345667865SDCCAG8c.1953G>C (p.Gln651His)
c.1056G>C (p.Gln352His)
n.160G>C
c.1824G>C (p.Gln608His)
c.1530G>C (p.Gln510His)
c.1050G>C (p.Gln350His)
c.1032G>C (p.Gln344His)
c.1983G>C (p.Gln661His)
c.1854G>C (p.Gln618His)
c.1794G>C (p.Gln598His)
c.2079G>C (p.Gln693His)
c.2049G>C (p.Gln683His)
c.1890G>C (p.Gln630His)
c.1842G>C (p.Gln614His)
c.1665G>C (p.Gln555His)
c.1617G>C (p.Gln539His)
c.1008G>C (p.Gln336His)
n.2103G>C
c.1659G>C (p.Gln553His)
c.1716G>C (p.Gln572His)
c.1755G>C (p.Gln585His)
c.1422G>C (p.Gln474His)
n.1995G>C
n.1886G>C
1g.243426526G>TCA345667866SDCCAG8c.1953G>T (p.Gln651His)
c.1056G>T (p.Gln352His)
n.160G>T
c.1824G>T (p.Gln608His)
c.1530G>T (p.Gln510His)
c.1050G>T (p.Gln350His)
c.1032G>T (p.Gln344His)
c.1983G>T (p.Gln661His)
c.1854G>T (p.Gln618His)
c.1794G>T (p.Gln598His)
c.2079G>T (p.Gln693His)
c.2049G>T (p.Gln683His)
c.1890G>T (p.Gln630His)
c.1842G>T (p.Gln614His)
c.1665G>T (p.Gln555His)
c.1617G>T (p.Gln539His)
c.1008G>T (p.Gln336His)
n.2103G>T
c.1659G>T (p.Gln553His)
c.1716G>T (p.Gln572His)
c.1755G>T (p.Gln585His)
c.1422G>T (p.Gln474His)
n.1995G>T
n.1886G>T
1g.243426527C>ACA345667869SDCCAG8c.1954C>A (p.His652Asn)
c.1057C>A (p.His353Asn)
n.161C>A
c.1825C>A (p.His609Asn)
c.1531C>A (p.His511Asn)
c.1051C>A (p.His351Asn)
c.1033C>A (p.His345Asn)
c.1984C>A (p.His662Asn)
c.1855C>A (p.His619Asn)
c.1795C>A (p.His599Asn)
c.2080C>A (p.His694Asn)
c.2050C>A (p.His684Asn)
c.1891C>A (p.His631Asn)
c.1843C>A (p.His615Asn)
c.1666C>A (p.His556Asn)
c.1618C>A (p.His540Asn)
c.1009C>A (p.His337Asn)
n.2104C>A
c.1660C>A (p.His554Asn)
c.1717C>A (p.His573Asn)
c.1756C>A (p.His586Asn)
c.1423C>A (p.His475Asn)
n.1996C>A
n.1887C>A
1g.243426527C>GCA345667868SDCCAG8c.1954C>G (p.His652Asp)
c.1057C>G (p.His353Asp)
n.161C>G
c.1825C>G (p.His609Asp)
c.1531C>G (p.His511Asp)
c.1051C>G (p.His351Asp)
c.1033C>G (p.His345Asp)
c.1984C>G (p.His662Asp)
c.1855C>G (p.His619Asp)
c.1795C>G (p.His599Asp)
c.2080C>G (p.His694Asp)
c.2050C>G (p.His684Asp)
c.1891C>G (p.His631Asp)
c.1843C>G (p.His615Asp)
c.1666C>G (p.His556Asp)
c.1618C>G (p.His540Asp)
c.1009C>G (p.His337Asp)
n.2104C>G
c.1660C>G (p.His554Asp)
c.1717C>G (p.His573Asp)
c.1756C>G (p.His586Asp)
c.1423C>G (p.His475Asp)
n.1996C>G
n.1887C>G
1g.243426527C>TCA345667867SDCCAG8c.1954C>T (p.His652Tyr)
c.1057C>T (p.His353Tyr)
n.161C>T
c.1825C>T (p.His609Tyr)
c.1531C>T (p.His511Tyr)
c.1051C>T (p.His351Tyr)
c.1033C>T (p.His345Tyr)
c.1984C>T (p.His662Tyr)
c.1855C>T (p.His619Tyr)
c.1795C>T (p.His599Tyr)
c.2080C>T (p.His694Tyr)
c.2050C>T (p.His684Tyr)
c.1891C>T (p.His631Tyr)
c.1843C>T (p.His615Tyr)
c.1666C>T (p.His556Tyr)
c.1618C>T (p.His540Tyr)
c.1009C>T (p.His337Tyr)
n.2104C>T
c.1660C>T (p.His554Tyr)
c.1717C>T (p.His573Tyr)
c.1756C>T (p.His586Tyr)
c.1423C>T (p.His475Tyr)
n.1996C>T
n.1887C>T
 gnomAD v4
1g.243426528A=CA1148378849SDCCAG8c.1955A= (p.His652=)
c.1058A= (p.His353=)
n.162A=
c.1826A= (p.His609=)
c.1532A= (p.His511=)
c.1052A= (p.His351=)
c.1034A= (p.His345=)
c.1985A= (p.His662=)
c.1856A= (p.His619=)
c.1796A= (p.His599=)
c.2081A= (p.His694=)
c.2051A= (p.His684=)
c.1892A= (p.His631=)
c.1844A= (p.His615=)
c.1667A= (p.His556=)
c.1619A= (p.His540=)
c.1010A= (p.His337=)
n.2105A=
c.1661A= (p.His554=)
c.1718A= (p.His573=)
c.1757A= (p.His586=)
c.1424A= (p.His475=)
n.1997A=
n.1888A=
1g.243426528A>CCA345667870SDCCAG8c.1955A>C (p.His652Pro)
c.1058A>C (p.His353Pro)
n.162A>C
c.1826A>C (p.His609Pro)
c.1532A>C (p.His511Pro)
c.1052A>C (p.His351Pro)
c.1034A>C (p.His345Pro)
c.1985A>C (p.His662Pro)
c.1856A>C (p.His619Pro)
c.1796A>C (p.His599Pro)
c.2081A>C (p.His694Pro)
c.2051A>C (p.His684Pro)
c.1892A>C (p.His631Pro)
c.1844A>C (p.His615Pro)
c.1667A>C (p.His556Pro)
c.1619A>C (p.His540Pro)
c.1010A>C (p.His337Pro)
n.2105A>C
c.1661A>C (p.His554Pro)
c.1718A>C (p.His573Pro)
c.1757A>C (p.His586Pro)
c.1424A>C (p.His475Pro)
n.1997A>C
n.1888A>C
1g.243426528A>GCA1483783SDCCAG8c.1955A>G (p.His652Arg)
c.1058A>G (p.His353Arg)
n.162A>G
c.1826A>G (p.His609Arg)
c.1532A>G (p.His511Arg)
c.1052A>G (p.His351Arg)
c.1034A>G (p.His345Arg)
c.1985A>G (p.His662Arg)
c.1856A>G (p.His619Arg)
c.1796A>G (p.His599Arg)
c.2081A>G (p.His694Arg)
c.2051A>G (p.His684Arg)
c.1892A>G (p.His631Arg)
c.1844A>G (p.His615Arg)
c.1667A>G (p.His556Arg)
c.1619A>G (p.His540Arg)
c.1010A>G (p.His337Arg)
n.2105A>G
c.1661A>G (p.His554Arg)
c.1718A>G (p.His573Arg)
c.1757A>G (p.His586Arg)
c.1424A>G (p.His475Arg)
n.1997A>G
n.1888A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.243426528A>TCA345667871SDCCAG8c.1955A>T (p.His652Leu)
c.1058A>T (p.His353Leu)
n.162A>T
c.1826A>T (p.His609Leu)
c.1532A>T (p.His511Leu)
c.1052A>T (p.His351Leu)
c.1034A>T (p.His345Leu)
c.1985A>T (p.His662Leu)
c.1856A>T (p.His619Leu)
c.1796A>T (p.His599Leu)
c.2081A>T (p.His694Leu)
c.2051A>T (p.His684Leu)
c.1892A>T (p.His631Leu)
c.1844A>T (p.His615Leu)
c.1667A>T (p.His556Leu)
c.1619A>T (p.His540Leu)
c.1010A>T (p.His337Leu)
n.2105A>T
c.1661A>T (p.His554Leu)
c.1718A>T (p.His573Leu)
c.1757A>T (p.His586Leu)
c.1424A>T (p.His475Leu)
n.1997A>T
n.1888A>T
1g.243426529T>ACA345667872SDCCAG8c.1956T>A (p.His652Gln)
c.1059T>A (p.His353Gln)
n.163T>A
c.1827T>A (p.His609Gln)
c.1533T>A (p.His511Gln)
c.1053T>A (p.His351Gln)
c.1035T>A (p.His345Gln)
c.1986T>A (p.His662Gln)
c.1857T>A (p.His619Gln)
c.1797T>A (p.His599Gln)
c.2082T>A (p.His694Gln)
c.2052T>A (p.His684Gln)
c.1893T>A (p.His631Gln)
c.1845T>A (p.His615Gln)
c.1668T>A (p.His556Gln)
c.1620T>A (p.His540Gln)
c.1011T>A (p.His337Gln)
n.2106T>A
c.1662T>A (p.His554Gln)
c.1719T>A (p.His573Gln)
c.1758T>A (p.His586Gln)
c.1425T>A (p.His475Gln)
n.1998T>A
n.1889T>A
1g.243426529T>CCA41009611SDCCAG8c.1956T>C (p.His652=)
c.1059T>C (p.His353=)
n.163T>C
c.1827T>C (p.His609=)
c.1533T>C (p.His511=)
c.1053T>C (p.His351=)
c.1035T>C (p.His345=)
c.1986T>C (p.His662=)
c.1857T>C (p.His619=)
c.1797T>C (p.His599=)
c.2082T>C (p.His694=)
c.2052T>C (p.His684=)
c.1893T>C (p.His631=)
c.1845T>C (p.His615=)
c.1668T>C (p.His556=)
c.1620T>C (p.His540=)
c.1011T>C (p.His337=)
n.2106T>C
c.1662T>C (p.His554=)
c.1719T>C (p.His573=)
c.1758T>C (p.His586=)
c.1425T>C (p.His475=)
n.1998T>C
n.1889T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.243426529T>GCA345667873SDCCAG8c.1956T>G (p.His652Gln)
c.1059T>G (p.His353Gln)
n.163T>G
c.1827T>G (p.His609Gln)
c.1533T>G (p.His511Gln)
c.1053T>G (p.His351Gln)
c.1035T>G (p.His345Gln)
c.1986T>G (p.His662Gln)
c.1857T>G (p.His619Gln)
c.1797T>G (p.His599Gln)
c.2082T>G (p.His694Gln)
c.2052T>G (p.His684Gln)
c.1893T>G (p.His631Gln)
c.1845T>G (p.His615Gln)
c.1668T>G (p.His556Gln)
c.1620T>G (p.His540Gln)
c.1011T>G (p.His337Gln)
n.2106T>G
c.1662T>G (p.His554Gln)
c.1719T>G (p.His573Gln)
c.1758T>G (p.His586Gln)
c.1425T>G (p.His475Gln)
n.1998T>G
n.1889T>G
1g.243426529T=CA1230390618SDCCAG8c.1956T= (p.His652=)
c.1059T= (p.His353=)
n.163T=
c.1827T= (p.His609=)
c.1533T= (p.His511=)
c.1053T= (p.His351=)
c.1035T= (p.His345=)
c.1986T= (p.His662=)
c.1857T= (p.His619=)
c.1797T= (p.His599=)
c.2082T= (p.His694=)
c.2052T= (p.His684=)
c.1893T= (p.His631=)
c.1845T= (p.His615=)
c.1668T= (p.His556=)
c.1620T= (p.His540=)
c.1011T= (p.His337=)
n.2106T=
c.1662T= (p.His554=)
c.1719T= (p.His573=)
c.1758T= (p.His586=)
c.1425T= (p.His475=)
n.1998T=
n.1889T=
1g.243426530G>ACA345667874SDCCAG8c.1957G>A (p.Gly653Arg)
c.1060G>A (p.Gly354Arg)
n.164G>A
c.1828G>A (p.Gly610Arg)
c.1534G>A (p.Gly512Arg)
c.1054G>A (p.Gly352Arg)
c.1036G>A (p.Gly346Arg)
c.1987G>A (p.Gly663Arg)
c.1858G>A (p.Gly620Arg)
c.1798G>A (p.Gly600Arg)
c.2083G>A (p.Gly695Arg)
c.2053G>A (p.Gly685Arg)
c.1894G>A (p.Gly632Arg)
c.1846G>A (p.Gly616Arg)
c.1669G>A (p.Gly557Arg)
c.1621G>A (p.Gly541Arg)
c.1012G>A (p.Gly338Arg)
n.2107G>A
c.1663G>A (p.Gly555Arg)
c.1720G>A (p.Gly574Arg)
c.1759G>A (p.Gly587Arg)
c.1426G>A (p.Gly476Arg)
n.1999G>A
n.1890G>A
1g.243426530G>CCA345667875SDCCAG8c.1957G>C (p.Gly653Arg)
c.1060G>C (p.Gly354Arg)
n.164G>C
c.1828G>C (p.Gly610Arg)
c.1534G>C (p.Gly512Arg)
c.1054G>C (p.Gly352Arg)
c.1036G>C (p.Gly346Arg)
c.1987G>C (p.Gly663Arg)
c.1858G>C (p.Gly620Arg)
c.1798G>C (p.Gly600Arg)
c.2083G>C (p.Gly695Arg)
c.2053G>C (p.Gly685Arg)
c.1894G>C (p.Gly632Arg)
c.1846G>C (p.Gly616Arg)
c.1669G>C (p.Gly557Arg)
c.1621G>C (p.Gly541Arg)
c.1012G>C (p.Gly338Arg)
n.2107G>C
c.1663G>C (p.Gly555Arg)
c.1720G>C (p.Gly574Arg)
c.1759G>C (p.Gly587Arg)
c.1426G>C (p.Gly476Arg)
n.1999G>C
n.1890G>C
1g.243426530G>TCA345667876SDCCAG8c.1957G>T (p.Gly653Trp)
c.1060G>T (p.Gly354Trp)
n.164G>T
c.1828G>T (p.Gly610Trp)
c.1534G>T (p.Gly512Trp)
c.1054G>T (p.Gly352Trp)
c.1036G>T (p.Gly346Trp)
c.1987G>T (p.Gly663Trp)
c.1858G>T (p.Gly620Trp)
c.1798G>T (p.Gly600Trp)
c.2083G>T (p.Gly695Trp)
c.2053G>T (p.Gly685Trp)
c.1894G>T (p.Gly632Trp)
c.1846G>T (p.Gly616Trp)
c.1669G>T (p.Gly557Trp)
c.1621G>T (p.Gly541Trp)
c.1012G>T (p.Gly338Trp)
n.2107G>T
c.1663G>T (p.Gly555Trp)
c.1720G>T (p.Gly574Trp)
c.1759G>T (p.Gly587Trp)
c.1426G>T (p.Gly476Trp)
n.1999G>T
n.1890G>T
1g.243426531G>ACA345667877SDCCAG8c.1958G>A (p.Gly653Glu)
c.1061G>A (p.Gly354Glu)
n.165G>A
c.1829G>A (p.Gly610Glu)
c.1535G>A (p.Gly512Glu)
c.1055G>A (p.Gly352Glu)
c.1037G>A (p.Gly346Glu)
c.1988G>A (p.Gly663Glu)
c.1859G>A (p.Gly620Glu)
c.1799G>A (p.Gly600Glu)
c.2084G>A (p.Gly695Glu)
c.2054G>A (p.Gly685Glu)
c.1895G>A (p.Gly632Glu)
c.1847G>A (p.Gly616Glu)
c.1670G>A (p.Gly557Glu)
c.1622G>A (p.Gly541Glu)
c.1013G>A (p.Gly338Glu)
n.2108G>A
c.1664G>A (p.Gly555Glu)
c.1721G>A (p.Gly574Glu)
c.1760G>A (p.Gly587Glu)
c.1427G>A (p.Gly476Glu)
n.2000G>A
n.1891G>A
 dbSNP gnomAD v2 gnomAD v4
1g.243426531G>CCA345667878SDCCAG8c.1958G>C (p.Gly653Ala)
c.1061G>C (p.Gly354Ala)
n.165G>C
c.1829G>C (p.Gly610Ala)
c.1535G>C (p.Gly512Ala)
c.1055G>C (p.Gly352Ala)
c.1037G>C (p.Gly346Ala)
c.1988G>C (p.Gly663Ala)
c.1859G>C (p.Gly620Ala)
c.1799G>C (p.Gly600Ala)
c.2084G>C (p.Gly695Ala)
c.2054G>C (p.Gly685Ala)
c.1895G>C (p.Gly632Ala)
c.1847G>C (p.Gly616Ala)
c.1670G>C (p.Gly557Ala)
c.1622G>C (p.Gly541Ala)
c.1013G>C (p.Gly338Ala)
n.2108G>C
c.1664G>C (p.Gly555Ala)
c.1721G>C (p.Gly574Ala)
c.1760G>C (p.Gly587Ala)
c.1427G>C (p.Gly476Ala)
n.2000G>C
n.1891G>C
1g.243426531G=CA1230390619SDCCAG8c.1958G= (p.Gly653=)
c.1061G= (p.Gly354=)
n.165G=
c.1829G= (p.Gly610=)
c.1535G= (p.Gly512=)
c.1055G= (p.Gly352=)
c.1037G= (p.Gly346=)
c.1988G= (p.Gly663=)
c.1859G= (p.Gly620=)
c.1799G= (p.Gly600=)
c.2084G= (p.Gly695=)
c.2054G= (p.Gly685=)
c.1895G= (p.Gly632=)
c.1847G= (p.Gly616=)
c.1670G= (p.Gly557=)
c.1622G= (p.Gly541=)
c.1013G= (p.Gly338=)
n.2108G=
c.1664G= (p.Gly555=)
c.1721G= (p.Gly574=)
c.1760G= (p.Gly587=)
c.1427G= (p.Gly476=)
n.2000G=
n.1891G=
1g.243426531G>TCA345667879SDCCAG8c.1958G>T (p.Gly653Val)
c.1061G>T (p.Gly354Val)
n.165G>T
c.1829G>T (p.Gly610Val)
c.1535G>T (p.Gly512Val)
c.1055G>T (p.Gly352Val)
c.1037G>T (p.Gly346Val)
c.1988G>T (p.Gly663Val)
c.1859G>T (p.Gly620Val)
c.1799G>T (p.Gly600Val)
c.2084G>T (p.Gly695Val)
c.2054G>T (p.Gly685Val)
c.1895G>T (p.Gly632Val)
c.1847G>T (p.Gly616Val)
c.1670G>T (p.Gly557Val)
c.1622G>T (p.Gly541Val)
c.1013G>T (p.Gly338Val)
n.2108G>T
c.1664G>T (p.Gly555Val)
c.1721G>T (p.Gly574Val)
c.1760G>T (p.Gly587Val)
c.1427G>T (p.Gly476Val)
n.2000G>T
n.1891G>T
1g.243426532G>ACA424346886SDCCAG8c.1959G>A (p.Gly653=)
c.1062G>A (p.Gly354=)
n.166G>A
c.1830G>A (p.Gly610=)
c.1536G>A (p.Gly512=)
c.1056G>A (p.Gly352=)
c.1038G>A (p.Gly346=)
c.1989G>A (p.Gly663=)
c.1860G>A (p.Gly620=)
c.1800G>A (p.Gly600=)
c.2085G>A (p.Gly695=)
c.2055G>A (p.Gly685=)
c.1896G>A (p.Gly632=)
c.1848G>A (p.Gly616=)
c.1671G>A (p.Gly557=)
c.1623G>A (p.Gly541=)
c.1014G>A (p.Gly338=)
n.2109G>A
c.1665G>A (p.Gly555=)
c.1722G>A (p.Gly574=)
c.1761G>A (p.Gly587=)
c.1428G>A (p.Gly476=)
n.2001G>A
n.1892G>A
 dbSNP gnomAD v2 gnomAD v4
1g.243426532G>CCA424346887SDCCAG8c.1959G>C (p.Gly653=)
c.1062G>C (p.Gly354=)
n.166G>C
c.1830G>C (p.Gly610=)
c.1536G>C (p.Gly512=)
c.1056G>C (p.Gly352=)
c.1038G>C (p.Gly346=)
c.1989G>C (p.Gly663=)
c.1860G>C (p.Gly620=)
c.1800G>C (p.Gly600=)
c.2085G>C (p.Gly695=)
c.2055G>C (p.Gly685=)
c.1896G>C (p.Gly632=)
c.1848G>C (p.Gly616=)
c.1671G>C (p.Gly557=)
c.1623G>C (p.Gly541=)
c.1014G>C (p.Gly338=)
n.2109G>C
c.1665G>C (p.Gly555=)
c.1722G>C (p.Gly574=)
c.1761G>C (p.Gly587=)
c.1428G>C (p.Gly476=)
n.2001G>C
n.1892G>C
1g.243426532G=CA1230390620SDCCAG8c.1959G= (p.Gly653=)
c.1062G= (p.Gly354=)
n.166G=
c.1830G= (p.Gly610=)
c.1536G= (p.Gly512=)
c.1056G= (p.Gly352=)
c.1038G= (p.Gly346=)
c.1989G= (p.Gly663=)
c.1860G= (p.Gly620=)
c.1800G= (p.Gly600=)
c.2085G= (p.Gly695=)
c.2055G= (p.Gly685=)
c.1896G= (p.Gly632=)
c.1848G= (p.Gly616=)
c.1671G= (p.Gly557=)
c.1623G= (p.Gly541=)
c.1014G= (p.Gly338=)
n.2109G=
c.1665G= (p.Gly555=)
c.1722G= (p.Gly574=)
c.1761G= (p.Gly587=)
c.1428G= (p.Gly476=)
n.2001G=
n.1892G=
1g.243426532G>TCA424346888SDCCAG8c.1959G>T (p.Gly653=)
c.1062G>T (p.Gly354=)
n.166G>T
c.1830G>T (p.Gly610=)
c.1536G>T (p.Gly512=)
c.1056G>T (p.Gly352=)
c.1038G>T (p.Gly346=)
c.1989G>T (p.Gly663=)
c.1860G>T (p.Gly620=)
c.1800G>T (p.Gly600=)
c.2085G>T (p.Gly695=)
c.2055G>T (p.Gly685=)
c.1896G>T (p.Gly632=)
c.1848G>T (p.Gly616=)
c.1671G>T (p.Gly557=)
c.1623G>T (p.Gly541=)
c.1014G>T (p.Gly338=)
n.2109G>T
c.1665G>T (p.Gly555=)
c.1722G>T (p.Gly574=)
c.1761G>T (p.Gly587=)
c.1428G>T (p.Gly476=)
n.2001G>T
n.1892G>T
1g.243426533A=CA1230390621SDCCAG8c.1960A= (p.Arg654=)
c.1063A= (p.Arg355=)
n.167A=
c.1831A= (p.Arg611=)
c.1537A= (p.Arg513=)
c.1057A= (p.Arg353=)
c.1039A= (p.Arg347=)
c.1990A= (p.Arg664=)
c.1861A= (p.Arg621=)
c.1801A= (p.Arg601=)
c.2086A= (p.Arg696=)
c.2056A= (p.Arg686=)
c.1897A= (p.Arg633=)
c.1849A= (p.Arg617=)
c.1672A= (p.Arg558=)
c.1624A= (p.Arg542=)
c.1015A= (p.Arg339=)
n.2110A=
c.1666A= (p.Arg556=)
c.1723A= (p.Arg575=)
c.1762A= (p.Arg588=)
c.1429A= (p.Arg477=)
n.2002A=
n.1893A=

Number of alleles fetched