Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
3	g.122283764G>A	CA119533	CASR	c.1579G>A (p.Glu527Lys) c.1840G>A (p.Glu614Lys) c.1810G>A (p.Glu604Lys) c.1327G>A (p.Glu443Lys) c.1222G>A (p.Glu408Lys)	ClinVar dbSNP COSMIC
3	g.122283764G>C	CA354157451	CASR	c.1579G>C (p.Glu527Gln) c.1840G>C (p.Glu614Gln) c.1810G>C (p.Glu604Gln) c.1327G>C (p.Glu443Gln) c.1222G>C (p.Glu408Gln)
3	g.122283764G=	CA1397870943	CASR	c.1579G= (p.Glu527=) c.1840G= (p.Glu614=) c.1810G= (p.Glu604=) c.1327G= (p.Glu443=) c.1222G= (p.Glu408=)
3	g.122283764G>T	CA354157449	CASR	c.1579G>T (p.Glu527Ter) c.1840G>T (p.Glu614Ter) c.1810G>T (p.Glu604Ter) c.1327G>T (p.Glu443Ter) c.1222G>T (p.Glu408Ter)
3	g.122283765A>C	CA354157452	CASR	c.1580A>C (p.Glu527Ala) c.1841A>C (p.Glu614Ala) c.1811A>C (p.Glu604Ala) c.1328A>C (p.Glu443Ala) c.1223A>C (p.Glu408Ala)	ClinVar
3	g.122283765A>G	CA354157454	CASR	c.1580A>G (p.Glu527Gly) c.1841A>G (p.Glu614Gly) c.1811A>G (p.Glu604Gly) c.1328A>G (p.Glu443Gly) c.1223A>G (p.Glu408Gly)
3	g.122283765A>T	CA354157456	CASR	c.1580A>T (p.Glu527Val) c.1841A>T (p.Glu614Val) c.1811A>T (p.Glu604Val) c.1328A>T (p.Glu443Val) c.1223A>T (p.Glu408Val)
3	g.122283766G>A	CA435251873	CASR	c.1581G>A (p.Glu527=) c.1842G>A (p.Glu614=) c.1812G>A (p.Glu604=) c.1329G>A (p.Glu443=) c.1224G>A (p.Glu408=)
3	g.122283766G>C	CA2569746	CASR	c.1581G>C (p.Glu527Asp) c.1842G>C (p.Glu614Asp) c.1812G>C (p.Glu604Asp) c.1329G>C (p.Glu443Asp) c.1224G>C (p.Glu408Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122283766G=	CA1397870950	CASR	c.1581G= (p.Glu527=) c.1842G= (p.Glu614=) c.1812G= (p.Glu604=) c.1329G= (p.Glu443=) c.1224G= (p.Glu408=)
3	g.122283766G>T	CA354157458	CASR	c.1581G>T (p.Glu527Asp) c.1842G>T (p.Glu614Asp) c.1812G>T (p.Glu604Asp) c.1329G>T (p.Glu443Asp) c.1224G>T (p.Glu408Asp)
3	g.122283767T>A	CA354157461	CASR	c.1582T>A (p.Phe528Ile) c.1843T>A (p.Phe615Ile) c.1813T>A (p.Phe605Ile) c.1330T>A (p.Phe444Ile) c.1225T>A (p.Phe409Ile)
3	g.122283767T>C	CA354157463	CASR	c.1582T>C (p.Phe528Leu) c.1843T>C (p.Phe615Leu) c.1813T>C (p.Phe605Leu) c.1330T>C (p.Phe444Leu) c.1225T>C (p.Phe409Leu)
3	g.122283767T>G	CA354157464	CASR	c.1582T>G (p.Phe528Val) c.1843T>G (p.Phe615Val) c.1813T>G (p.Phe605Val) c.1330T>G (p.Phe444Val) c.1225T>G (p.Phe409Val)
3	g.122283769del	CA2667223953	CASR	c.1584del (p.Leu529CysfsTer21) c.1845del (p.Leu616CysfsTer21) c.1815del (p.Leu606CysfsTer21) c.1332del (p.Leu445CysfsTer21) c.1227del (p.Leu410CysfsTer21)	gnomAD v4
3	g.122283768T>A	CA354157465	CASR	c.1583T>A (p.Phe528Tyr) c.1844T>A (p.Phe615Tyr) c.1814T>A (p.Phe605Tyr) c.1331T>A (p.Phe444Tyr) c.1226T>A (p.Phe409Tyr)
3	g.122283768T>C	CA354157466	CASR	c.1583T>C (p.Phe528Ser) c.1844T>C (p.Phe615Ser) c.1814T>C (p.Phe605Ser) c.1331T>C (p.Phe444Ser) c.1226T>C (p.Phe409Ser)
3	g.122283768T>G	CA354157468	CASR	c.1583T>G (p.Phe528Cys) c.1844T>G (p.Phe615Cys) c.1814T>G (p.Phe605Cys) c.1331T>G (p.Phe444Cys) c.1226T>G (p.Phe409Cys)
3	g.122283769T>A	CA354157470	CASR	c.1584T>A (p.Phe528Leu) c.1845T>A (p.Phe615Leu) c.1815T>A (p.Phe605Leu) c.1332T>A (p.Phe444Leu) c.1227T>A (p.Phe409Leu)
3	g.122283769T>C	CA435251874	CASR	c.1584T>C (p.Phe528=) c.1845T>C (p.Phe615=) c.1815T>C (p.Phe605=) c.1332T>C (p.Phe444=) c.1227T>C (p.Phe409=)
3	g.122283769T>G	CA354157472	CASR	c.1584T>G (p.Phe528Leu) c.1845T>G (p.Phe615Leu) c.1815T>G (p.Phe605Leu) c.1332T>G (p.Phe444Leu) c.1227T>G (p.Phe409Leu)
3	g.122283770C>A	CA354157473	CASR	c.1585C>A (p.Leu529Met) c.1846C>A (p.Leu616Met) c.1816C>A (p.Leu606Met) c.1333C>A (p.Leu445Met) c.1228C>A (p.Leu410Met)
3	g.122283770C>G	CA354157475	CASR	c.1585C>G (p.Leu529Val) c.1846C>G (p.Leu616Val) c.1816C>G (p.Leu606Val) c.1333C>G (p.Leu445Val) c.1228C>G (p.Leu410Val)
3	g.122283770C>T	CA435251875	CASR	c.1585C>T (p.Leu529=) c.1846C>T (p.Leu616=) c.1816C>T (p.Leu606=) c.1333C>T (p.Leu445=) c.1228C>T (p.Leu410=)
3	g.122283771T>A	CA354157477	CASR	c.1586T>A (p.Leu529Gln) c.1847T>A (p.Leu616Gln) c.1817T>A (p.Leu606Gln) c.1334T>A (p.Leu445Gln) c.1229T>A (p.Leu410Gln)
3	g.122283771T>C	CA354157480	CASR	c.1586T>C (p.Leu529Pro) c.1847T>C (p.Leu616Pro) c.1817T>C (p.Leu606Pro) c.1334T>C (p.Leu445Pro) c.1229T>C (p.Leu410Pro)	ClinVar dbSNP
3	g.122283771T>G	CA354157478	CASR	c.1586T>G (p.Leu529Arg) c.1847T>G (p.Leu616Arg) c.1817T>G (p.Leu606Arg) c.1334T>G (p.Leu445Arg) c.1229T>G (p.Leu410Arg)
3	g.122283772G>A	CA435251876	CASR	c.1587G>A (p.Leu529=) c.1848G>A (p.Leu616=) c.1818G>A (p.Leu606=) c.1335G>A (p.Leu445=) c.1230G>A (p.Leu410=)	ClinVar
3	g.122283772G>C	CA435251877	CASR	c.1587G>C (p.Leu529=) c.1848G>C (p.Leu616=) c.1818G>C (p.Leu606=) c.1335G>C (p.Leu445=) c.1230G>C (p.Leu410=)
3	g.122283772G>T	CA435251878	CASR	c.1587G>T (p.Leu529=) c.1848G>T (p.Leu616=) c.1818G>T (p.Leu606=) c.1335G>T (p.Leu445=) c.1230G>T (p.Leu410=)
3	g.122283773T>A	CA354157481	CASR	c.1588T>A (p.Ser530Thr) c.1849T>A (p.Ser617Thr) c.1819T>A (p.Ser607Thr) c.1336T>A (p.Ser446Thr) c.1231T>A (p.Ser411Thr)
3	g.122283773T>C	CA354157482	CASR	c.1588T>C (p.Ser530Pro) c.1849T>C (p.Ser617Pro) c.1819T>C (p.Ser607Pro) c.1336T>C (p.Ser446Pro) c.1231T>C (p.Ser411Pro)	gnomAD v4
3	g.122283773T>G	CA354157483	CASR	c.1588T>G (p.Ser530Ala) c.1849T>G (p.Ser617Ala) c.1819T>G (p.Ser607Ala) c.1336T>G (p.Ser446Ala) c.1231T>G (p.Ser411Ala)
3	g.122283773_122283774insGAA	CA2667223961	CASR	c.1588_1589insGAA (p.Ser530Ter) c.1849_1850insGAA (p.Ser617Ter) c.1819_1820insGAA (p.Ser607Ter) c.1336_1337insGAA (p.Ser446Ter) c.1231_1232insGAA (p.Ser411Ter)	gnomAD v4
3	g.122283774C>A	CA354157486	CASR	c.1589C>A (p.Ser530Ter) c.1850C>A (p.Ser617Ter) c.1820C>A (p.Ser607Ter) c.1337C>A (p.Ser446Ter) c.1232C>A (p.Ser411Ter)	ClinVar gnomAD v4
3	g.122283774C=	CA1397870958	CASR	c.1589C= (p.Ser530=) c.1850C= (p.Ser617=) c.1820C= (p.Ser607=) c.1337C= (p.Ser446=) c.1232C= (p.Ser411=)
3	g.122283774C>G	CA354157488	CASR	c.1589C>G (p.Ser530Trp) c.1850C>G (p.Ser617Trp) c.1820C>G (p.Ser607Trp) c.1337C>G (p.Ser446Trp) c.1232C>G (p.Ser411Trp)
3	g.122283774C>T	CA82748557	CASR	c.1589C>T (p.Ser530Leu) c.1850C>T (p.Ser617Leu) c.1820C>T (p.Ser607Leu) c.1337C>T (p.Ser446Leu) c.1232C>T (p.Ser411Leu)	ClinVar dbSNP gnomAD v2 gnomAD v4
3	g.122283775G>A	CA2569747	CASR	c.1590G>A (p.Ser530=) c.1851G>A (p.Ser617=) c.1821G>A (p.Ser607=) c.1338G>A (p.Ser446=) c.1233G>A (p.Ser411=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122283775G>C	CA435251880	CASR	c.1590G>C (p.Ser530=) c.1851G>C (p.Ser617=) c.1821G>C (p.Ser607=) c.1338G>C (p.Ser446=) c.1233G>C (p.Ser411=)	dbSNP
3	g.122283775G=	CA1397870964	CASR	c.1590G= (p.Ser530=) c.1851G= (p.Ser617=) c.1821G= (p.Ser607=) c.1338G= (p.Ser446=) c.1233G= (p.Ser411=)
3	g.122283775G>T	CA435251881	CASR	c.1590G>T (p.Ser530=) c.1851G>T (p.Ser617=) c.1821G>T (p.Ser607=) c.1338G>T (p.Ser446=) c.1233G>T (p.Ser411=)	ClinVar
3	g.122283776T>A	CA354157490	CASR	c.1591T>A (p.Trp531Arg) c.1852T>A (p.Trp618Arg) c.1822T>A (p.Trp608Arg) c.1339T>A (p.Trp447Arg) c.1234T>A (p.Trp412Arg)
3	g.122283776T>C	CA354157491	CASR	c.1591T>C (p.Trp531Arg) c.1852T>C (p.Trp618Arg) c.1822T>C (p.Trp608Arg) c.1339T>C (p.Trp447Arg) c.1234T>C (p.Trp412Arg)	ClinVar dbSNP
3	g.122283776T>G	CA354157494	CASR	c.1591T>G (p.Trp531Gly) c.1852T>G (p.Trp618Gly) c.1822T>G (p.Trp608Gly) c.1339T>G (p.Trp447Gly) c.1234T>G (p.Trp412Gly)
3	g.122283777G>A	CA82748562	CASR	c.1592G>A (p.Trp531Ter) c.1853G>A (p.Trp618Ter) c.1823G>A (p.Trp608Ter) c.1340G>A (p.Trp447Ter) c.1235G>A (p.Trp412Ter)	dbSNP
3	g.122283777G>C	CA354157496	CASR	c.1592G>C (p.Trp531Ser) c.1853G>C (p.Trp618Ser) c.1823G>C (p.Trp608Ser) c.1340G>C (p.Trp447Ser) c.1235G>C (p.Trp412Ser)
3	g.122283777G=	CA1397870973	CASR	c.1592G= (p.Trp531=) c.1853G= (p.Trp618=) c.1823G= (p.Trp608=) c.1340G= (p.Trp447=) c.1235G= (p.Trp412=)
3	g.122283777G>T	CA354157497	CASR	c.1592G>T (p.Trp531Leu) c.1853G>T (p.Trp618Leu) c.1823G>T (p.Trp608Leu) c.1340G>T (p.Trp447Leu) c.1235G>T (p.Trp412Leu)
3	g.122283778G>A	CA354157499	CASR	c.1593G>A (p.Trp531Ter) c.1854G>A (p.Trp618Ter) c.1824G>A (p.Trp608Ter) c.1341G>A (p.Trp447Ter) c.1236G>A (p.Trp412Ter)
3	g.122283778G>C	CA354157501	CASR	c.1593G>C (p.Trp531Cys) c.1854G>C (p.Trp618Cys) c.1824G>C (p.Trp608Cys) c.1341G>C (p.Trp447Cys) c.1236G>C (p.Trp412Cys)	ClinVar
3	g.122283778G>T	CA354157500	CASR	c.1593G>T (p.Trp531Cys) c.1854G>T (p.Trp618Cys) c.1824G>T (p.Trp608Cys) c.1341G>T (p.Trp447Cys) c.1236G>T (p.Trp412Cys)
3	g.122283779A=	CA1397870976	CASR	c.1594A= (p.Thr532=) c.1855A= (p.Thr619=) c.1825A= (p.Thr609=) c.1342A= (p.Thr448=) c.1237A= (p.Thr413=)
3	g.122283779A>C	CA354157505	CASR	c.1594A>C (p.Thr532Pro) c.1855A>C (p.Thr619Pro) c.1825A>C (p.Thr609Pro) c.1342A>C (p.Thr448Pro) c.1237A>C (p.Thr413Pro)
3	g.122283779A>G	CA2569748	CASR	c.1594A>G (p.Thr532Ala) c.1855A>G (p.Thr619Ala) c.1825A>G (p.Thr609Ala) c.1342A>G (p.Thr448Ala) c.1237A>G (p.Thr413Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122283779A>T	CA354157507	CASR	c.1594A>T (p.Thr532Ser) c.1855A>T (p.Thr619Ser) c.1825A>T (p.Thr609Ser) c.1342A>T (p.Thr448Ser) c.1237A>T (p.Thr413Ser)
3	g.122283780C>A	CA354157509	CASR	c.1595C>A (p.Thr532Lys) c.1856C>A (p.Thr619Lys) c.1826C>A (p.Thr609Lys) c.1343C>A (p.Thr448Lys) c.1238C>A (p.Thr413Lys)	ClinVar dbSNP gnomAD v4
3	g.122283780C=	CA1397870991	CASR	c.1595C= (p.Thr532=) c.1856C= (p.Thr619=) c.1826C= (p.Thr609=) c.1343C= (p.Thr448=) c.1238C= (p.Thr413=)
3	g.122283780C>G	CA354157510	CASR	c.1595C>G (p.Thr532Arg) c.1856C>G (p.Thr619Arg) c.1826C>G (p.Thr609Arg) c.1343C>G (p.Thr448Arg) c.1238C>G (p.Thr413Arg)	ClinVar dbSNP gnomAD v4
3	g.122283780C>T	CA2569749	CASR	c.1595C>T (p.Thr532Met) c.1856C>T (p.Thr619Met) c.1826C>T (p.Thr609Met) c.1343C>T (p.Thr448Met) c.1238C>T (p.Thr413Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122283781G>A	CA2569750	CASR	c.1596G>A (p.Thr532=) c.1857G>A (p.Thr619=) c.1827G>A (p.Thr609=) c.1344G>A (p.Thr448=) c.1239G>A (p.Thr413=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3	g.122283781G>C	CA435251882	CASR	c.1596G>C (p.Thr532=) c.1857G>C (p.Thr619=) c.1827G>C (p.Thr609=) c.1344G>C (p.Thr448=) c.1239G>C (p.Thr413=)	ClinVar
3	g.122283781G=	CA1397870994	CASR	c.1596G= (p.Thr532=) c.1857G= (p.Thr619=) c.1827G= (p.Thr609=) c.1344G= (p.Thr448=) c.1239G= (p.Thr413=)
3	g.122283781G>T	CA435251883	CASR	c.1596G>T (p.Thr532=) c.1857G>T (p.Thr619=) c.1827G>T (p.Thr609=) c.1344G>T (p.Thr448=) c.1239G>T (p.Thr413=)	gnomAD v4
3	g.122283782G>A	CA354157517	CASR	c.1597G>A (p.Glu533Lys) c.1858G>A (p.Glu620Lys) c.1828G>A (p.Glu610Lys) c.1345G>A (p.Glu449Lys) c.1240G>A (p.Glu414Lys)	COSMIC
3	g.122283782G>C	CA354157519	CASR	c.1597G>C (p.Glu533Gln) c.1858G>C (p.Glu620Gln) c.1828G>C (p.Glu610Gln) c.1345G>C (p.Glu449Gln) c.1240G>C (p.Glu414Gln)
3	g.122283782G=	CA1397871002	CASR	c.1597G= (p.Glu533=) c.1858G= (p.Glu620=) c.1828G= (p.Glu610=) c.1345G= (p.Glu449=) c.1240G= (p.Glu414=)
3	g.122283782G>T	CA16604428	CASR	c.1597G>T (p.Glu533Ter) c.1858G>T (p.Glu620Ter) c.1828G>T (p.Glu610Ter) c.1345G>T (p.Glu449Ter) c.1240G>T (p.Glu414Ter)	ClinVar dbSNP
3	g.122283783A>C	CA354157527	CASR	c.1598A>C (p.Glu533Ala) c.1859A>C (p.Glu620Ala) c.1829A>C (p.Glu610Ala) c.1346A>C (p.Glu449Ala) c.1241A>C (p.Glu414Ala)	ClinVar
3	g.122283783A>G	CA354157525	CASR	c.1598A>G (p.Glu533Gly) c.1859A>G (p.Glu620Gly) c.1829A>G (p.Glu610Gly) c.1346A>G (p.Glu449Gly) c.1241A>G (p.Glu414Gly)
3	g.122283783A>T	CA354157523	CASR	c.1598A>T (p.Glu533Val) c.1859A>T (p.Glu620Val) c.1829A>T (p.Glu610Val) c.1346A>T (p.Glu449Val) c.1241A>T (p.Glu414Val)
3	g.122283784G>A	CA435251884	CASR	c.1599G>A (p.Glu533=) c.1860G>A (p.Glu620=) c.1830G>A (p.Glu610=) c.1347G>A (p.Glu449=) c.1242G>A (p.Glu414=)	COSMIC
3	g.122283784G>C	CA354157530	CASR	c.1599G>C (p.Glu533Asp) c.1860G>C (p.Glu620Asp) c.1830G>C (p.Glu610Asp) c.1347G>C (p.Glu449Asp) c.1242G>C (p.Glu414Asp)
3	g.122283784G>T	CA354157532	CASR	c.1599G>T (p.Glu533Asp) c.1860G>T (p.Glu620Asp) c.1830G>T (p.Glu610Asp) c.1347G>T (p.Glu449Asp) c.1242G>T (p.Glu414Asp)
3	g.122283785C>A	CA354157534	CASR	c.1600C>A (p.Pro534Thr) c.1861C>A (p.Pro621Thr) c.1831C>A (p.Pro611Thr) c.1348C>A (p.Pro450Thr) c.1243C>A (p.Pro415Thr)
3	g.122283785C>G	CA354157535	CASR	c.1600C>G (p.Pro534Ala) c.1861C>G (p.Pro621Ala) c.1831C>G (p.Pro611Ala) c.1348C>G (p.Pro450Ala) c.1243C>G (p.Pro415Ala)
3	g.122283785C>T	CA354157537	CASR	c.1600C>T (p.Pro534Ser) c.1861C>T (p.Pro621Ser) c.1831C>T (p.Pro611Ser) c.1348C>T (p.Pro450Ser) c.1243C>T (p.Pro415Ser)	ClinVar gnomAD v4
3	g.122283786C>A	CA354157539	CASR	c.1601C>A (p.Pro534His) c.1862C>A (p.Pro621His) c.1832C>A (p.Pro611His) c.1349C>A (p.Pro450His) c.1244C>A (p.Pro415His)
3	g.122283786C=	CA1397871008	CASR	c.1601C= (p.Pro534=) c.1862C= (p.Pro621=) c.1832C= (p.Pro611=) c.1349C= (p.Pro450=) c.1244C= (p.Pro415=)
3	g.122283786C>G	CA354157540	CASR	c.1601C>G (p.Pro534Arg) c.1862C>G (p.Pro621Arg) c.1832C>G (p.Pro611Arg) c.1349C>G (p.Pro450Arg) c.1244C>G (p.Pro415Arg)
3	g.122283786C>T	CA82748568	CASR	c.1601C>T (p.Pro534Leu) c.1862C>T (p.Pro621Leu) c.1832C>T (p.Pro611Leu) c.1349C>T (p.Pro450Leu) c.1244C>T (p.Pro415Leu)	dbSNP
3	g.122283787C>A	CA435251885	CASR	c.1602C>A (p.Pro534=) c.1863C>A (p.Pro621=) c.1833C>A (p.Pro611=) c.1350C>A (p.Pro450=) c.1245C>A (p.Pro415=)
3	g.122283787C>G	CA435251886	CASR	c.1602C>G (p.Pro534=) c.1863C>G (p.Pro621=) c.1833C>G (p.Pro611=) c.1350C>G (p.Pro450=) c.1245C>G (p.Pro415=)
3	g.122283787C>T	CA435251887	CASR	c.1602C>T (p.Pro534=) c.1863C>T (p.Pro621=) c.1833C>T (p.Pro611=) c.1350C>T (p.Pro450=) c.1245C>T (p.Pro415=)
3	g.122283788T>A	CA354157541	CASR	c.1603T>A (p.Phe535Ile) c.1864T>A (p.Phe622Ile) c.1834T>A (p.Phe612Ile) c.1351T>A (p.Phe451Ile) c.1246T>A (p.Phe416Ile)
3	g.122283788T>C	CA354157542	CASR	c.1603T>C (p.Phe535Leu) c.1864T>C (p.Phe622Leu) c.1834T>C (p.Phe612Leu) c.1351T>C (p.Phe451Leu) c.1246T>C (p.Phe416Leu)	gnomAD v4
3	g.122283788T>G	CA354157543	CASR	c.1603T>G (p.Phe535Val) c.1864T>G (p.Phe622Val) c.1834T>G (p.Phe612Val) c.1351T>G (p.Phe451Val) c.1246T>G (p.Phe416Val)
3	g.122283790del	CA2586972857	CASR	c.1605del (p.Phe535LeufsTer15) c.1866del (p.Phe622LeufsTer15) c.1836del (p.Phe612LeufsTer15) c.1353del (p.Phe451LeufsTer15) c.1248del (p.Phe416LeufsTer15)
3	g.122283789T>A	CA354157544	CASR	c.1604T>A (p.Phe535Tyr) c.1865T>A (p.Phe622Tyr) c.1835T>A (p.Phe612Tyr) c.1352T>A (p.Phe451Tyr) c.1247T>A (p.Phe416Tyr)
3	g.122283789T>C	CA119493	CASR	c.1604T>C (p.Phe535Ser) c.1865T>C (p.Phe622Ser) c.1835T>C (p.Phe612Ser) c.1352T>C (p.Phe451Ser) c.1247T>C (p.Phe416Ser)	ClinVar dbSNP
3	g.122283789T>G	CA354157550	CASR	c.1604T>G (p.Phe535Cys) c.1865T>G (p.Phe622Cys) c.1835T>G (p.Phe612Cys) c.1352T>G (p.Phe451Cys) c.1247T>G (p.Phe416Cys)
3	g.122283789T=	CA1397871010	CASR	c.1604T= (p.Phe535=) c.1865T= (p.Phe622=) c.1835T= (p.Phe612=) c.1352T= (p.Phe451=) c.1247T= (p.Phe416=)
3	g.122283790T>A	CA354157552	CASR	c.1605T>A (p.Phe535Leu) c.1866T>A (p.Phe622Leu) c.1836T>A (p.Phe612Leu) c.1353T>A (p.Phe451Leu) c.1248T>A (p.Phe416Leu)
3	g.122283790T>C	CA435251888	CASR	c.1605T>C (p.Phe535=) c.1866T>C (p.Phe622=) c.1836T>C (p.Phe612=) c.1353T>C (p.Phe451=) c.1248T>C (p.Phe416=)	ClinVar dbSNP
3	g.122283790T>G	CA354157554	CASR	c.1605T>G (p.Phe535Leu) c.1866T>G (p.Phe622Leu) c.1836T>G (p.Phe612Leu) c.1353T>G (p.Phe451Leu) c.1248T>G (p.Phe416Leu)
3	g.122283790T=	CA1397871014	CASR	c.1605T= (p.Phe535=) c.1866T= (p.Phe622=) c.1836T= (p.Phe612=) c.1353T= (p.Phe451=) c.1248T= (p.Phe416=)
3	g.122283791G>A	CA354157556	CASR	c.1606G>A (p.Gly536Arg) c.1867G>A (p.Gly623Arg) c.1837G>A (p.Gly613Arg) c.1354G>A (p.Gly452Arg) c.1249G>A (p.Gly417Arg)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
3	g.122283791G>C	CA16611196	CASR	c.1606G>C (p.Gly536Arg) c.1867G>C (p.Gly623Arg) c.1837G>C (p.Gly613Arg) c.1354G>C (p.Gly452Arg) c.1249G>C (p.Gly417Arg)	ClinVar dbSNP
3	g.122283791G=	CA1397871022	CASR	c.1606G= (p.Gly536=) c.1867G= (p.Gly623=) c.1837G= (p.Gly613=) c.1354G= (p.Gly452=) c.1249G= (p.Gly417=)
3	g.122283791G>T	CA354157557	CASR	c.1606G>T (p.Gly536Trp) c.1867G>T (p.Gly623Trp) c.1837G>T (p.Gly613Trp) c.1354G>T (p.Gly452Trp) c.1249G>T (p.Gly417Trp)
3	g.122283792G>A	CA354157559	CASR	c.1607G>A (p.Gly536Glu) c.1868G>A (p.Gly623Glu) c.1838G>A (p.Gly613Glu) c.1355G>A (p.Gly452Glu) c.1250G>A (p.Gly417Glu)	ClinVar gnomAD v4
3	g.122283792G>C	CA354157561	CASR	c.1607G>C (p.Gly536Ala) c.1868G>C (p.Gly623Ala) c.1838G>C (p.Gly613Ala) c.1355G>C (p.Gly452Ala) c.1250G>C (p.Gly417Ala)
3	g.122283792G>T	CA354157562	CASR	c.1607G>T (p.Gly536Val) c.1868G>T (p.Gly623Val) c.1838G>T (p.Gly613Val) c.1355G>T (p.Gly452Val) c.1250G>T (p.Gly417Val)
3	g.122283792_122283793delinsAA	CA645526043	CASR	c.1607_1608delinsAA (p.Gly536Glu) c.1868_1869delinsAA (p.Gly623Glu) c.1838_1839delinsAA (p.Gly613Glu) c.1355_1356delinsAA (p.Gly452Glu) c.1250_1251delinsAA (p.Gly417Glu)	COSMIC
3	g.122283793G>A	CA435251891	CASR	c.1608G>A (p.Gly536=) c.1869G>A (p.Gly623=) c.1839G>A (p.Gly613=) c.1356G>A (p.Gly452=) c.1251G>A (p.Gly417=)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
3	g.122283793G>C	CA435251890	CASR	c.1608G>C (p.Gly536=) c.1869G>C (p.Gly623=) c.1839G>C (p.Gly613=) c.1356G>C (p.Gly452=) c.1251G>C (p.Gly417=)
3	g.122283793G=	CA1397871024	CASR	c.1608G= (p.Gly536=) c.1869G= (p.Gly623=) c.1839G= (p.Gly613=) c.1356G= (p.Gly452=) c.1251G= (p.Gly417=)
3	g.122283793G>T	CA435251889	CASR	c.1608G>T (p.Gly536=) c.1869G>T (p.Gly623=) c.1839G>T (p.Gly613=) c.1356G>T (p.Gly452=) c.1251G>T (p.Gly417=)
3	g.122283794A=	CA1397871026	CASR	c.1609A= (p.Ile537=) c.1870A= (p.Ile624=) c.1840A= (p.Ile614=) c.1357A= (p.Ile453=) c.1252A= (p.Ile418=)
3	g.122283794A>C	CA354157565	CASR	c.1609A>C (p.Ile537Leu) c.1870A>C (p.Ile624Leu) c.1840A>C (p.Ile614Leu) c.1357A>C (p.Ile453Leu) c.1252A>C (p.Ile418Leu)
3	g.122283794A>G	CA354157568	CASR	c.1609A>G (p.Ile537Val) c.1870A>G (p.Ile624Val) c.1840A>G (p.Ile614Val) c.1357A>G (p.Ile453Val) c.1252A>G (p.Ile418Val)
3	g.122283794A>T	CA82748574	CASR	c.1609A>T (p.Ile537Phe) c.1870A>T (p.Ile624Phe) c.1840A>T (p.Ile614Phe) c.1357A>T (p.Ile453Phe) c.1252A>T (p.Ile418Phe)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.122283795T>A	CA354157570	CASR	c.1610T>A (p.Ile537Asn) c.1871T>A (p.Ile624Asn) c.1841T>A (p.Ile614Asn) c.1358T>A (p.Ile453Asn) c.1253T>A (p.Ile418Asn)
3	g.122283795T>C	CA82748578	CASR	c.1610T>C (p.Ile537Thr) c.1871T>C (p.Ile624Thr) c.1841T>C (p.Ile614Thr) c.1358T>C (p.Ile453Thr) c.1253T>C (p.Ile418Thr)	ClinVar dbSNP
3	g.122283795T>G	CA354157574	CASR	c.1610T>G (p.Ile537Ser) c.1871T>G (p.Ile624Ser) c.1841T>G (p.Ile614Ser) c.1358T>G (p.Ile453Ser) c.1253T>G (p.Ile418Ser)
3	g.122283795T=	CA1397871027	CASR	c.1610T= (p.Ile537=) c.1871T= (p.Ile624=) c.1841T= (p.Ile614=) c.1358T= (p.Ile453=) c.1253T= (p.Ile418=)
3	g.122283796C>A	CA435251892	CASR	c.1611C>A (p.Ile537=) c.1872C>A (p.Ile624=) c.1842C>A (p.Ile614=) c.1359C>A (p.Ile453=) c.1254C>A (p.Ile418=)	dbSNP gnomAD v2 gnomAD v4
3	g.122283796C=	CA1397871028	CASR	c.1611C= (p.Ile537=) c.1872C= (p.Ile624=) c.1842C= (p.Ile614=) c.1359C= (p.Ile453=) c.1254C= (p.Ile418=)
3	g.122283796C>G	CA82748583	CASR	c.1611C>G (p.Ile537Met) c.1872C>G (p.Ile624Met) c.1842C>G (p.Ile614Met) c.1359C>G (p.Ile453Met) c.1254C>G (p.Ile418Met)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122283796C>T	CA2569751	CASR	c.1611C>T (p.Ile537=) c.1872C>T (p.Ile624=) c.1842C>T (p.Ile614=) c.1359C>T (p.Ile453=) c.1254C>T (p.Ile418=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3	g.122283797G>A	CA2569752	CASR	c.1612G>A (p.Ala538Thr) c.1873G>A (p.Ala625Thr) c.1843G>A (p.Ala615Thr) c.1360G>A (p.Ala454Thr) c.1255G>A (p.Ala419Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3	g.122283797G>C	CA354157583	CASR	c.1612G>C (p.Ala538Pro) c.1873G>C (p.Ala625Pro) c.1843G>C (p.Ala615Pro) c.1360G>C (p.Ala454Pro) c.1255G>C (p.Ala419Pro)	ClinVar
3	g.122283797G=	CA1397871032	CASR	c.1612G= (p.Ala538=) c.1873G= (p.Ala625=) c.1843G= (p.Ala615=) c.1360G= (p.Ala454=) c.1255G= (p.Ala419=)
3	g.122283797G>T	CA82748585	CASR	c.1612G>T (p.Ala538Ser) c.1873G>T (p.Ala625Ser) c.1843G>T (p.Ala615Ser) c.1360G>T (p.Ala454Ser) c.1255G>T (p.Ala419Ser)	ClinVar dbSNP gnomAD v4
3	g.122283798C>A	CA354157590	CASR	c.1613C>A (p.Ala538Glu) c.1874C>A (p.Ala625Glu) c.1844C>A (p.Ala615Glu) c.1361C>A (p.Ala454Glu) c.1256C>A (p.Ala419Glu)
3	g.122283798C>G	CA354157592	CASR	c.1613C>G (p.Ala538Gly) c.1874C>G (p.Ala625Gly) c.1844C>G (p.Ala615Gly) c.1361C>G (p.Ala454Gly) c.1256C>G (p.Ala419Gly)
3	g.122283798C>T	CA354157597	CASR	c.1613C>T (p.Ala538Val) c.1874C>T (p.Ala625Val) c.1844C>T (p.Ala615Val) c.1361C>T (p.Ala454Val) c.1256C>T (p.Ala419Val)	ClinVar
3	g.122283801_122283804del	CA2740094570	CASR	c.1616_1619del (p.Leu539ProfsTer10) c.1877_1880del (p.Leu626ProfsTer10) c.1847_1850del (p.Leu616ProfsTer10) c.1364_1367del (p.Leu455ProfsTer10) c.1259_1262del (p.Leu420ProfsTer10)	ClinVar
3	g.122283799A>C	CA435251893	CASR	c.1614A>C (p.Ala538=) c.1875A>C (p.Ala625=) c.1845A>C (p.Ala615=) c.1362A>C (p.Ala454=) c.1257A>C (p.Ala419=)
3	g.122283799A>G	CA435251894	CASR	c.1614A>G (p.Ala538=) c.1875A>G (p.Ala625=) c.1845A>G (p.Ala615=) c.1362A>G (p.Ala454=) c.1257A>G (p.Ala419=)	gnomAD v4
3	g.122283799A>T	CA435251895	CASR	c.1614A>T (p.Ala538=) c.1875A>T (p.Ala625=) c.1845A>T (p.Ala615=) c.1362A>T (p.Ala454=) c.1257A>T (p.Ala419=)
3	g.122283800C>A	CA354157604	CASR	c.1615C>A (p.Leu539Ile) c.1876C>A (p.Leu626Ile) c.1846C>A (p.Leu616Ile) c.1363C>A (p.Leu455Ile) c.1258C>A (p.Leu420Ile)
3	g.122283800C=	CA1397871033	CASR	c.1615C= (p.Leu539=) c.1876C= (p.Leu626=) c.1846C= (p.Leu616=) c.1363C= (p.Leu455=) c.1258C= (p.Leu420=)
3	g.122283800C>G	CA119513	CASR	c.1615C>G (p.Leu539Val) c.1876C>G (p.Leu626Val) c.1846C>G (p.Leu616Val) c.1363C>G (p.Leu455Val) c.1258C>G (p.Leu420Val)	ClinVar dbSNP
3	g.122283800C>T	CA354157599	CASR	c.1615C>T (p.Leu539Phe) c.1876C>T (p.Leu626Phe) c.1846C>T (p.Leu616Phe) c.1363C>T (p.Leu455Phe) c.1258C>T (p.Leu420Phe)
3	g.122283801T>A	CA354157607	CASR	c.1616T>A (p.Leu539His) c.1877T>A (p.Leu626His) c.1847T>A (p.Leu616His) c.1364T>A (p.Leu455His) c.1259T>A (p.Leu420His)
3	g.122283801T>C	CA354157610	CASR	c.1616T>C (p.Leu539Pro) c.1877T>C (p.Leu626Pro) c.1847T>C (p.Leu616Pro) c.1364T>C (p.Leu455Pro) c.1259T>C (p.Leu420Pro)
3	g.122283801T>G	CA354157611	CASR	c.1616T>G (p.Leu539Arg) c.1877T>G (p.Leu626Arg) c.1847T>G (p.Leu616Arg) c.1364T>G (p.Leu455Arg) c.1259T>G (p.Leu420Arg)
3	g.122283802C>A	CA435251896	CASR	c.1617C>A (p.Leu539=) c.1878C>A (p.Leu626=) c.1848C>A (p.Leu616=) c.1365C>A (p.Leu455=) c.1260C>A (p.Leu420=)	ClinVar dbSNP gnomAD v4
3	g.122283802C>G	CA435251897	CASR	c.1617C>G (p.Leu539=) c.1878C>G (p.Leu626=) c.1848C>G (p.Leu616=) c.1365C>G (p.Leu455=) c.1260C>G (p.Leu420=)
3	g.122283802C>T	CA435251898	CASR	c.1617C>T (p.Leu539=) c.1878C>T (p.Leu626=) c.1848C>T (p.Leu616=) c.1365C>T (p.Leu455=) c.1260C>T (p.Leu420=)	ClinVar
3	g.122283802_122283803delinsCA	CA1397871034	CASR	c.1617_1618delinsCA (p.Leu539=) c.1878_1879delinsCA (p.Leu626=) c.1848_1849delinsCA (p.Leu616=) c.1365_1366delinsCA (p.Leu455=) c.1260_1261delinsCA (p.Leu420=)
3	g.122283803del	CA658657327	CASR	c.1618del (p.Thr540ProfsTer10) c.1879del (p.Thr627ProfsTer10) c.1849del (p.Thr617ProfsTer10) c.1366del (p.Thr456ProfsTer10) c.1261del (p.Thr421ProfsTer10)	ClinVar dbSNP
3	g.122283803A=	CA1397871038	CASR	c.1618A= (p.Thr540=) c.1879A= (p.Thr627=) c.1849A= (p.Thr617=) c.1366A= (p.Thr456=) c.1261A= (p.Thr421=)
3	g.122283803A>C	CA354157615	CASR	c.1618A>C (p.Thr540Pro) c.1879A>C (p.Thr627Pro) c.1849A>C (p.Thr617Pro) c.1366A>C (p.Thr456Pro) c.1261A>C (p.Thr421Pro)
3	g.122283803A>G	CA354157617	CASR	c.1618A>G (p.Thr540Ala) c.1879A>G (p.Thr627Ala) c.1849A>G (p.Thr617Ala) c.1366A>G (p.Thr456Ala) c.1261A>G (p.Thr421Ala)	dbSNP gnomAD v2 gnomAD v4
3	g.122283803A>T	CA354157620	CASR	c.1618A>T (p.Thr540Ser) c.1879A>T (p.Thr627Ser) c.1849A>T (p.Thr617Ser) c.1366A>T (p.Thr456Ser) c.1261A>T (p.Thr421Ser)
3	g.122283804C>A	CA354157623	CASR	c.1619C>A (p.Thr540Asn) c.1880C>A (p.Thr627Asn) c.1850C>A (p.Thr617Asn) c.1367C>A (p.Thr456Asn) c.1262C>A (p.Thr421Asn)	dbSNP
3	g.122283804C=	CA1397871042	CASR	c.1619C= (p.Thr540=) c.1880C= (p.Thr627=) c.1850C= (p.Thr617=) c.1367C= (p.Thr456=) c.1262C= (p.Thr421=)
3	g.122283804C>G	CA354157627	CASR	c.1619C>G (p.Thr540Ser) c.1880C>G (p.Thr627Ser) c.1850C>G (p.Thr617Ser) c.1367C>G (p.Thr456Ser) c.1262C>G (p.Thr421Ser)
3	g.122283804C>T	CA354157625	CASR	c.1619C>T (p.Thr540Ile) c.1880C>T (p.Thr627Ile) c.1850C>T (p.Thr617Ile) c.1367C>T (p.Thr456Ile) c.1262C>T (p.Thr421Ile)	ClinVar
3	g.122283806del	CA2573136450	CASR	c.1621del (p.Leu541SerfsTer9) c.1882del (p.Leu628SerfsTer9) c.1852del (p.Leu618SerfsTer9) c.1369del (p.Leu457SerfsTer9) c.1264del (p.Leu422SerfsTer9)	ClinVar dbSNP
3	g.122283805C>A	CA435251899	CASR	c.1620C>A (p.Thr540=) c.1881C>A (p.Thr627=) c.1851C>A (p.Thr617=) c.1368C>A (p.Thr456=) c.1263C>A (p.Thr421=)	ClinVar dbSNP
3	g.122283805C=	CA1397871045	CASR	c.1620C= (p.Thr540=) c.1881C= (p.Thr627=) c.1851C= (p.Thr617=) c.1368C= (p.Thr456=) c.1263C= (p.Thr421=)
3	g.122283805C>G	CA435251900	CASR	c.1620C>G (p.Thr540=) c.1881C>G (p.Thr627=) c.1851C>G (p.Thr617=) c.1368C>G (p.Thr456=) c.1263C>G (p.Thr421=)
3	g.122283805C>T	CA435251901	CASR	c.1620C>T (p.Thr540=) c.1881C>T (p.Thr627=) c.1851C>T (p.Thr617=) c.1368C>T (p.Thr456=) c.1263C>T (p.Thr421=)
3	g.122283806C>A	CA354157631	CASR	c.1621C>A (p.Leu541Ile) c.1882C>A (p.Leu628Ile) c.1852C>A (p.Leu618Ile) c.1369C>A (p.Leu457Ile) c.1264C>A (p.Leu422Ile)
3	g.122283806C=	CA1397871049	CASR	c.1621C= (p.Leu541=) c.1882C= (p.Leu628=) c.1852C= (p.Leu618=) c.1369C= (p.Leu457=) c.1264C= (p.Leu422=)
3	g.122283806C>G	CA354157634	CASR	c.1621C>G (p.Leu541Val) c.1882C>G (p.Leu628Val) c.1852C>G (p.Leu618Val) c.1369C>G (p.Leu457Val) c.1264C>G (p.Leu422Val)	ClinVar dbSNP
3	g.122283806C>T	CA354157637	CASR	c.1621C>T (p.Leu541Phe) c.1882C>T (p.Leu628Phe) c.1852C>T (p.Leu618Phe) c.1369C>T (p.Leu457Phe) c.1264C>T (p.Leu422Phe)	ClinVar gnomAD v4 COSMIC
3	g.122283807T>A	CA354157639	CASR	c.1622T>A (p.Leu541His) c.1883T>A (p.Leu628His) c.1853T>A (p.Leu618His) c.1370T>A (p.Leu457His) c.1265T>A (p.Leu422His)
3	g.122283807T>C	CA354157641	CASR	c.1622T>C (p.Leu541Pro) c.1883T>C (p.Leu628Pro) c.1853T>C (p.Leu618Pro) c.1370T>C (p.Leu457Pro) c.1265T>C (p.Leu422Pro)
3	g.122283807T>G	CA354157645	CASR	c.1622T>G (p.Leu541Arg) c.1883T>G (p.Leu628Arg) c.1853T>G (p.Leu618Arg) c.1370T>G (p.Leu457Arg) c.1265T>G (p.Leu422Arg)	ClinVar dbSNP
3	g.122283808C>A	CA435251902	CASR	c.1623C>A (p.Leu541=) c.1884C>A (p.Leu628=) c.1854C>A (p.Leu618=) c.1371C>A (p.Leu457=) c.1266C>A (p.Leu422=)
3	g.122283808C=	CA1397871054	CASR	c.1623C= (p.Leu541=) c.1884C= (p.Leu628=) c.1854C= (p.Leu618=) c.1371C= (p.Leu457=) c.1266C= (p.Leu422=)
3	g.122283808C>G	CA435251903	CASR	c.1623C>G (p.Leu541=) c.1884C>G (p.Leu628=) c.1854C>G (p.Leu618=) c.1371C>G (p.Leu457=) c.1266C>G (p.Leu422=)
3	g.122283808C>T	CA435251904	CASR	c.1623C>T (p.Leu541=) c.1884C>T (p.Leu628=) c.1854C>T (p.Leu618=) c.1371C>T (p.Leu457=) c.1266C>T (p.Leu422=)	ClinVar dbSNP gnomAD v4
3	g.122283809T>A	CA354157653	CASR	c.1624T>A (p.Phe542Ile) c.1885T>A (p.Phe629Ile) c.1855T>A (p.Phe619Ile) c.1372T>A (p.Phe458Ile) c.1267T>A (p.Phe423Ile)
3	g.122283809T>C	CA354157656	CASR	c.1624T>C (p.Phe542Leu) c.1885T>C (p.Phe629Leu) c.1855T>C (p.Phe619Leu) c.1372T>C (p.Phe458Leu) c.1267T>C (p.Phe423Leu)
3	g.122283809T>G	CA354157659	CASR	c.1624T>G (p.Phe542Val) c.1885T>G (p.Phe629Val) c.1855T>G (p.Phe619Val) c.1372T>G (p.Phe458Val) c.1267T>G (p.Phe423Val)
3	g.122283810_122283811del	CA2586972858	CASR	c.1625_1626del (p.Phe542CysfsTer?) c.1886_1887del (p.Phe629CysfsTer?) c.1856_1857del (p.Phe619CysfsTer?) c.1373_1374del (p.Phe458CysfsTer?) c.1268_1269del (p.Phe423CysfsTer?)
3	g.122283810T>A	CA354157662	CASR	c.1625T>A (p.Phe542Tyr) c.1886T>A (p.Phe629Tyr) c.1856T>A (p.Phe619Tyr) c.1373T>A (p.Phe458Tyr) c.1268T>A (p.Phe423Tyr)
3	g.122283810T>C	CA354157672	CASR	c.1625T>C (p.Phe542Ser) c.1886T>C (p.Phe629Ser) c.1856T>C (p.Phe619Ser) c.1373T>C (p.Phe458Ser) c.1268T>C (p.Phe423Ser)	COSMIC
3	g.122283810T>G	CA354157677	CASR	c.1625T>G (p.Phe542Cys) c.1886T>G (p.Phe629Cys) c.1856T>G (p.Phe619Cys) c.1373T>G (p.Phe458Cys) c.1268T>G (p.Phe423Cys)	gnomAD v4
3	g.122283811T>A	CA354157679	CASR	c.1626T>A (p.Phe542Leu) c.1887T>A (p.Phe629Leu) c.1857T>A (p.Phe619Leu) c.1374T>A (p.Phe458Leu) c.1269T>A (p.Phe423Leu)
3	g.122283811T>C	CA82748588	CASR	c.1626T>C (p.Phe542=) c.1887T>C (p.Phe629=) c.1857T>C (p.Phe619=) c.1374T>C (p.Phe458=) c.1269T>C (p.Phe423=)	dbSNP
3	g.122283811T>G	CA354157681	CASR	c.1626T>G (p.Phe542Leu) c.1887T>G (p.Phe629Leu) c.1857T>G (p.Phe619Leu) c.1374T>G (p.Phe458Leu) c.1269T>G (p.Phe423Leu)
3	g.122283811T=	CA1397871055	CASR	c.1626T= (p.Phe542=) c.1887T= (p.Phe629=) c.1857T= (p.Phe619=) c.1374T= (p.Phe458=) c.1269T= (p.Phe423=)
3	g.122283812G>A	CA354157686	CASR	c.1627G>A (p.Ala543Thr) c.1888G>A (p.Ala630Thr) c.1858G>A (p.Ala620Thr) c.1375G>A (p.Ala459Thr) c.1270G>A (p.Ala424Thr)
3	g.122283812G>C	CA354157687	CASR	c.1627G>C (p.Ala543Pro) c.1888G>C (p.Ala630Pro) c.1858G>C (p.Ala620Pro) c.1375G>C (p.Ala459Pro) c.1270G>C (p.Ala424Pro)
3	g.122283812G>T	CA354157689	CASR	c.1627G>T (p.Ala543Ser) c.1888G>T (p.Ala630Ser) c.1858G>T (p.Ala620Ser) c.1375G>T (p.Ala459Ser) c.1270G>T (p.Ala424Ser)	ClinVar
3	g.122283813C>A	CA354157692	CASR	c.1628C>A (p.Ala543Asp) c.1889C>A (p.Ala630Asp) c.1859C>A (p.Ala620Asp) c.1376C>A (p.Ala459Asp) c.1271C>A (p.Ala424Asp)
3	g.122283813C>G	CA354157695	CASR	c.1628C>G (p.Ala543Gly) c.1889C>G (p.Ala630Gly) c.1859C>G (p.Ala620Gly) c.1376C>G (p.Ala459Gly) c.1271C>G (p.Ala424Gly)
3	g.122283813C>T	CA354157696	CASR	c.1628C>T (p.Ala543Val) c.1889C>T (p.Ala630Val) c.1859C>T (p.Ala620Val) c.1376C>T (p.Ala459Val) c.1271C>T (p.Ala424Val)
3	g.122283814C>A	CA435251905	CASR	c.1629C>A (p.Ala543=) c.1890C>A (p.Ala630=) c.1860C>A (p.Ala620=) c.1377C>A (p.Ala459=) c.1272C>A (p.Ala424=)
3	g.122283814C=	CA1397871057	CASR	c.1629C= (p.Ala543=) c.1890C= (p.Ala630=) c.1860C= (p.Ala620=) c.1377C= (p.Ala459=) c.1272C= (p.Ala424=)
3	g.122283814C>G	CA435251906	CASR	c.1629C>G (p.Ala543=) c.1890C>G (p.Ala630=) c.1860C>G (p.Ala620=) c.1377C>G (p.Ala459=) c.1272C>G (p.Ala424=)	ClinVar dbSNP
3	g.122283814C>T	CA2569753	CASR	c.1629C>T (p.Ala543=) c.1890C>T (p.Ala630=) c.1860C>T (p.Ala620=) c.1377C>T (p.Ala459=) c.1272C>T (p.Ala424=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.122283815del	CA435251907	CASR	c.1630del (p.Val544CysfsTer6) c.1891del (p.Val631CysfsTer6) c.1861del (p.Val621CysfsTer6) c.1378del (p.Val460CysfsTer6) c.1273del (p.Val425CysfsTer6)	COSMIC
3	g.122283815G>A	CA2569754	CASR	c.1630G>A (p.Val544Met) c.1891G>A (p.Val631Met) c.1861G>A (p.Val621Met) c.1378G>A (p.Val460Met) c.1273G>A (p.Val425Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3	g.122283815G>C	CA354157697	CASR	c.1630G>C (p.Val544Leu) c.1891G>C (p.Val631Leu) c.1861G>C (p.Val621Leu) c.1378G>C (p.Val460Leu) c.1273G>C (p.Val425Leu)	ClinVar
3	g.122283815G=	CA1397871058	CASR	c.1630G= (p.Val544=) c.1891G= (p.Val631=) c.1861G= (p.Val621=) c.1378G= (p.Val460=) c.1273G= (p.Val425=)
3	g.122283815G>T	CA354157699	CASR	c.1630G>T (p.Val544Leu) c.1891G>T (p.Val631Leu) c.1861G>T (p.Val621Leu) c.1378G>T (p.Val460Leu) c.1273G>T (p.Val425Leu)
3	g.122283816T>A	CA354157707	CASR	c.1631T>A (p.Val544Glu) c.1892T>A (p.Val631Glu) c.1862T>A (p.Val621Glu) c.1379T>A (p.Val460Glu) c.1274T>A (p.Val425Glu)
3	g.122283816T>C	CA354157710	CASR	c.1631T>C (p.Val544Ala) c.1892T>C (p.Val631Ala) c.1862T>C (p.Val621Ala) c.1379T>C (p.Val460Ala) c.1274T>C (p.Val425Ala)
3	g.122283816T>G	CA354157713	CASR	c.1631T>G (p.Val544Gly) c.1892T>G (p.Val631Gly) c.1862T>G (p.Val621Gly) c.1379T>G (p.Val460Gly) c.1274T>G (p.Val425Gly)
3	g.122283817G>A	CA435251908	CASR	c.1632G>A (p.Val544=) c.1893G>A (p.Val631=) c.1863G>A (p.Val621=) c.1380G>A (p.Val460=) c.1275G>A (p.Val425=)
3	g.122283817G>C	CA435251910	CASR	c.1632G>C (p.Val544=) c.1893G>C (p.Val631=) c.1863G>C (p.Val621=) c.1380G>C (p.Val460=) c.1275G>C (p.Val425=)	ClinVar
3	g.122283817G>T	CA435251909	CASR	c.1632G>T (p.Val544=) c.1893G>T (p.Val631=) c.1863G>T (p.Val621=) c.1380G>T (p.Val460=) c.1275G>T (p.Val425=)
3	g.122283818C>A	CA354157720	CASR	c.1633C>A (p.Leu545Met) c.1894C>A (p.Leu632Met) c.1864C>A (p.Leu622Met) c.1381C>A (p.Leu461Met) c.1276C>A (p.Leu426Met)
3	g.122283818C>G	CA354157717	CASR	c.1633C>G (p.Leu545Val) c.1894C>G (p.Leu632Val) c.1864C>G (p.Leu622Val) c.1381C>G (p.Leu461Val) c.1276C>G (p.Leu426Val)
3	g.122283818C>T	CA435251911	CASR	c.1633C>T (p.Leu545=) c.1894C>T (p.Leu632=) c.1864C>T (p.Leu622=) c.1381C>T (p.Leu461=) c.1276C>T (p.Leu426=)	ClinVar
3	g.122283819T>A	CA354157723	CASR	c.1634T>A (p.Leu545Gln) c.1895T>A (p.Leu632Gln) c.1865T>A (p.Leu622Gln) c.1382T>A (p.Leu461Gln) c.1277T>A (p.Leu426Gln)
3	g.122283819T>C	CA354157726	CASR	c.1634T>C (p.Leu545Pro) c.1895T>C (p.Leu632Pro) c.1865T>C (p.Leu622Pro) c.1382T>C (p.Leu461Pro) c.1277T>C (p.Leu426Pro)
3	g.122283819T>G	CA354157730	CASR	c.1634T>G (p.Leu545Arg) c.1895T>G (p.Leu632Arg) c.1865T>G (p.Leu622Arg) c.1382T>G (p.Leu461Arg) c.1277T>G (p.Leu426Arg)
3	g.122283819_122283820delinsTG	CA1397871061	CASR	c.1634_1635delinsTG (p.Leu545=) c.1895_1896delinsTG (p.Leu632=) c.1865_1866delinsTG (p.Leu622=) c.1382_1383delinsTG (p.Leu461=) c.1277_1278delinsTG (p.Leu426=)
3	g.122283820G>A	CA435251912	CASR	c.1635G>A (p.Leu545=) c.1896G>A (p.Leu632=) c.1866G>A (p.Leu622=) c.1383G>A (p.Leu461=) c.1278G>A (p.Leu426=)	dbSNP gnomAD v3 gnomAD v4
3	g.122283820G>C	CA435251913	CASR	c.1635G>C (p.Leu545=) c.1896G>C (p.Leu632=) c.1866G>C (p.Leu622=) c.1383G>C (p.Leu461=) c.1278G>C (p.Leu426=)	gnomAD v4
3	g.122283820G=	CA1397871063	CASR	c.1635G= (p.Leu545=) c.1896G= (p.Leu632=) c.1866G= (p.Leu622=) c.1383G= (p.Leu461=) c.1278G= (p.Leu426=)
3	g.122283820G>T	CA435251914	CASR	c.1635G>T (p.Leu545=) c.1896G>T (p.Leu632=) c.1866G>T (p.Leu622=) c.1383G>T (p.Leu461=) c.1278G>T (p.Leu426=)
3	g.122283822del	CA1052944532	CASR	c.1637del (p.Gly546AlafsTer4) c.1898del (p.Gly633AlafsTer4) c.1868del (p.Gly623AlafsTer4) c.1385del (p.Gly462AlafsTer4) c.1280del (p.Gly427AlafsTer4)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122283821G>A	CA354157733	CASR	c.1636G>A (p.Gly546Ser) c.1897G>A (p.Gly633Ser) c.1867G>A (p.Gly623Ser) c.1384G>A (p.Gly462Ser) c.1279G>A (p.Gly427Ser)
3	g.122283821G>C	CA354157736	CASR	c.1636G>C (p.Gly546Arg) c.1897G>C (p.Gly633Arg) c.1867G>C (p.Gly623Arg) c.1384G>C (p.Gly462Arg) c.1279G>C (p.Gly427Arg)
3	g.122283821G>T	CA354157738	CASR	c.1636G>T (p.Gly546Cys) c.1897G>T (p.Gly633Cys) c.1867G>T (p.Gly623Cys) c.1384G>T (p.Gly462Cys) c.1279G>T (p.Gly427Cys)
3	g.122283822G>A	CA354157742	CASR	c.1637G>A (p.Gly546Asp) c.1898G>A (p.Gly633Asp) c.1868G>A (p.Gly623Asp) c.1385G>A (p.Gly462Asp) c.1280G>A (p.Gly427Asp)	ClinVar dbSNP gnomAD v4
3	g.122283822G>C	CA354157745	CASR	c.1637G>C (p.Gly546Ala) c.1898G>C (p.Gly633Ala) c.1868G>C (p.Gly623Ala) c.1385G>C (p.Gly462Ala) c.1280G>C (p.Gly427Ala)	ClinVar dbSNP
3	g.122283822G>T	CA354157747	CASR	c.1637G>T (p.Gly546Val) c.1898G>T (p.Gly633Val) c.1868G>T (p.Gly623Val) c.1385G>T (p.Gly462Val) c.1280G>T (p.Gly427Val)
3	g.122283823C>A	CA435251915	CASR	c.1638C>A (p.Gly546=) c.1899C>A (p.Gly633=) c.1869C>A (p.Gly623=) c.1386C>A (p.Gly462=) c.1281C>A (p.Gly427=)
3	g.122283823C>G	CA435251916	CASR	c.1638C>G (p.Gly546=) c.1899C>G (p.Gly633=) c.1869C>G (p.Gly623=) c.1386C>G (p.Gly462=) c.1281C>G (p.Gly427=)
3	g.122283823C>T	CA435251917	CASR	c.1638C>T (p.Gly546=) c.1899C>T (p.Gly633=) c.1869C>T (p.Gly623=) c.1386C>T (p.Gly462=) c.1281C>T (p.Gly427=)	gnomAD v4
3	g.122283824A>C	CA354157750	CASR	c.1639A>C (p.Ile547Leu) c.1900A>C (p.Ile634Leu) c.1870A>C (p.Ile624Leu) c.1387A>C (p.Ile463Leu) c.1282A>C (p.Ile428Leu)
3	g.122283824A>G	CA354157753	CASR	c.1639A>G (p.Ile547Val) c.1900A>G (p.Ile634Val) c.1870A>G (p.Ile624Val) c.1387A>G (p.Ile463Val) c.1282A>G (p.Ile428Val)
3	g.122283824A>T	CA354157756	CASR	c.1639A>T (p.Ile547Phe) c.1900A>T (p.Ile634Phe) c.1870A>T (p.Ile624Phe) c.1387A>T (p.Ile463Phe) c.1282A>T (p.Ile428Phe)
3	g.122283825T>A	CA354157769	CASR	c.1640T>A (p.Ile547Asn) c.1901T>A (p.Ile634Asn) c.1871T>A (p.Ile624Asn) c.1388T>A (p.Ile463Asn) c.1283T>A (p.Ile428Asn)
3	g.122283825T>C	CA354157766	CASR	c.1640T>C (p.Ile547Thr) c.1901T>C (p.Ile634Thr) c.1871T>C (p.Ile624Thr) c.1388T>C (p.Ile463Thr) c.1283T>C (p.Ile428Thr)	ClinVar
3	g.122283825T>G	CA354157758	CASR	c.1640T>G (p.Ile547Ser) c.1901T>G (p.Ile634Ser) c.1871T>G (p.Ile624Ser) c.1388T>G (p.Ile463Ser) c.1283T>G (p.Ile428Ser)
3	g.122283826T>A	CA435251919	CASR	c.1641T>A (p.Ile547=) c.1902T>A (p.Ile634=) c.1872T>A (p.Ile624=) c.1389T>A (p.Ile463=) c.1284T>A (p.Ile428=)
3	g.122283826T>C	CA435251918	CASR	c.1641T>C (p.Ile547=) c.1902T>C (p.Ile634=) c.1872T>C (p.Ile624=) c.1389T>C (p.Ile463=) c.1284T>C (p.Ile428=)	ClinVar
3	g.122283826T>G	CA354157772	CASR	c.1641T>G (p.Ile547Met) c.1902T>G (p.Ile634Met) c.1872T>G (p.Ile624Met) c.1389T>G (p.Ile463Met) c.1284T>G (p.Ile428Met)	gnomAD v4
3	g.122283827T>A	CA354157777	CASR	c.1642T>A (p.Phe548Ile) c.1903T>A (p.Phe635Ile) c.1873T>A (p.Phe625Ile) c.1390T>A (p.Phe464Ile) c.1285T>A (p.Phe429Ile)
3	g.122283827T>C	CA354157775	CASR	c.1642T>C (p.Phe548Leu) c.1903T>C (p.Phe635Leu) c.1873T>C (p.Phe625Leu) c.1390T>C (p.Phe464Leu) c.1285T>C (p.Phe429Leu)
3	g.122283827T>G	CA354157778	CASR	c.1642T>G (p.Phe548Val) c.1903T>G (p.Phe635Val) c.1873T>G (p.Phe625Val) c.1390T>G (p.Phe464Val) c.1285T>G (p.Phe429Val)
3	g.122283828T>A	CA354157781	CASR	c.1643T>A (p.Phe548Tyr) c.1904T>A (p.Phe635Tyr) c.1874T>A (p.Phe625Tyr) c.1391T>A (p.Phe464Tyr) c.1286T>A (p.Phe429Tyr)
3	g.122283828T>C	CA354157785	CASR	c.1643T>C (p.Phe548Ser) c.1904T>C (p.Phe635Ser) c.1874T>C (p.Phe625Ser) c.1391T>C (p.Phe464Ser) c.1286T>C (p.Phe429Ser)
3	g.122283828T>G	CA354157783	CASR	c.1643T>G (p.Phe548Cys) c.1904T>G (p.Phe635Cys) c.1874T>G (p.Phe625Cys) c.1391T>G (p.Phe464Cys) c.1286T>G (p.Phe429Cys)
3	g.122283829C>A	CA354157786	CASR	c.1644C>A (p.Phe548Leu) c.1905C>A (p.Phe635Leu) c.1875C>A (p.Phe625Leu) c.1392C>A (p.Phe464Leu) c.1287C>A (p.Phe429Leu)
3	g.122283829C=	CA1397871065	CASR	c.1644C= (p.Phe548=) c.1905C= (p.Phe635=) c.1875C= (p.Phe625=) c.1392C= (p.Phe464=) c.1287C= (p.Phe429=)
3	g.122283829C>G	CA354157788	CASR	c.1644C>G (p.Phe548Leu) c.1905C>G (p.Phe635Leu) c.1875C>G (p.Phe625Leu) c.1392C>G (p.Phe464Leu) c.1287C>G (p.Phe429Leu)
3	g.122283829C>T	CA2569755	CASR	c.1644C>T (p.Phe548=) c.1905C>T (p.Phe635=) c.1875C>T (p.Phe625=) c.1392C>T (p.Phe464=) c.1287C>T (p.Phe429=)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3	g.122283830C>A	CA354157792	CASR	c.1645C>A (p.Leu549Met) c.1906C>A (p.Leu636Met) c.1876C>A (p.Leu626Met) c.1393C>A (p.Leu465Met) c.1288C>A (p.Leu430Met)	ClinVar dbSNP gnomAD v4
3	g.122283830C>G	CA354157793	CASR	c.1645C>G (p.Leu549Val) c.1906C>G (p.Leu636Val) c.1876C>G (p.Leu626Val) c.1393C>G (p.Leu465Val) c.1288C>G (p.Leu430Val)
3	g.122283830C>T	CA435251921	CASR	c.1645C>T (p.Leu549=) c.1906C>T (p.Leu636=) c.1876C>T (p.Leu626=) c.1393C>T (p.Leu465=) c.1288C>T (p.Leu430=)
3	g.122283831T>A	CA354157799	CASR	c.1646T>A (p.Leu549Gln) c.1907T>A (p.Leu636Gln) c.1877T>A (p.Leu626Gln) c.1394T>A (p.Leu465Gln) c.1289T>A (p.Leu430Gln)
3	g.122283831T>C	CA354157798	CASR	c.1646T>C (p.Leu549Pro) c.1907T>C (p.Leu636Pro) c.1877T>C (p.Leu626Pro) c.1394T>C (p.Leu465Pro) c.1289T>C (p.Leu430Pro)
3	g.122283831T>G	CA354157796	CASR	c.1646T>G (p.Leu549Arg) c.1907T>G (p.Leu636Arg) c.1877T>G (p.Leu626Arg) c.1394T>G (p.Leu465Arg) c.1289T>G (p.Leu430Arg)
3	g.122283832G>A	CA435251924	CASR	c.1647G>A (p.Leu549=) c.1908G>A (p.Leu636=) c.1878G>A (p.Leu626=) c.1395G>A (p.Leu465=) c.1290G>A (p.Leu430=)	ClinVar
3	g.122283832G>C	CA435251922	CASR	c.1647G>C (p.Leu549=) c.1908G>C (p.Leu636=) c.1878G>C (p.Leu626=) c.1395G>C (p.Leu465=) c.1290G>C (p.Leu430=)
3	g.122283832G>T	CA435251923	CASR	c.1647G>T (p.Leu549=) c.1908G>T (p.Leu636=) c.1878G>T (p.Leu626=) c.1395G>T (p.Leu465=) c.1290G>T (p.Leu430=)
3	g.122283833A>C	CA354157802	CASR	c.1648A>C (p.Thr550Pro) c.1909A>C (p.Thr637Pro) c.1879A>C (p.Thr627Pro) c.1396A>C (p.Thr466Pro) c.1291A>C (p.Thr431Pro)
3	g.122283833A>G	CA354157803	CASR	c.1648A>G (p.Thr550Ala) c.1909A>G (p.Thr637Ala) c.1879A>G (p.Thr627Ala) c.1396A>G (p.Thr466Ala) c.1291A>G (p.Thr431Ala)	ClinVar
3	g.122283833A>T	CA354157805	CASR	c.1648A>T (p.Thr550Ser) c.1909A>T (p.Thr637Ser) c.1879A>T (p.Thr627Ser) c.1396A>T (p.Thr466Ser) c.1291A>T (p.Thr431Ser)
3	g.122283834C>A	CA354157807	CASR	c.1649C>A (p.Thr550Lys) c.1910C>A (p.Thr637Lys) c.1880C>A (p.Thr627Lys) c.1397C>A (p.Thr466Lys) c.1292C>A (p.Thr431Lys)	ClinVar dbSNP
3	g.122283834C=	CA1397871067	CASR	c.1649C= (p.Thr550=) c.1910C= (p.Thr637=) c.1880C= (p.Thr627=) c.1397C= (p.Thr466=) c.1292C= (p.Thr431=)
3	g.122283834C>G	CA354157809	CASR	c.1649C>G (p.Thr550Arg) c.1910C>G (p.Thr637Arg) c.1880C>G (p.Thr627Arg) c.1397C>G (p.Thr466Arg) c.1292C>G (p.Thr431Arg)
3	g.122283834C>T	CA354157811	CASR	c.1649C>T (p.Thr550Ile) c.1910C>T (p.Thr637Ile) c.1880C>T (p.Thr627Ile) c.1397C>T (p.Thr466Ile) c.1292C>T (p.Thr431Ile)	ClinVar dbSNP
3	g.122283835A=	CA1397871071	CASR	c.1650A= (p.Thr550=) c.1911A= (p.Thr637=) c.1881A= (p.Thr627=) c.1398A= (p.Thr466=) c.1293A= (p.Thr431=)
3	g.122283835A>C	CA435251926	CASR	c.1650A>C (p.Thr550=) c.1911A>C (p.Thr637=) c.1881A>C (p.Thr627=) c.1398A>C (p.Thr466=) c.1293A>C (p.Thr431=)
3	g.122283835A>G	CA435251927	CASR	c.1650A>G (p.Thr550=) c.1911A>G (p.Thr637=) c.1881A>G (p.Thr627=) c.1398A>G (p.Thr466=) c.1293A>G (p.Thr431=)
3	g.122283835A>T	CA435251928	CASR	c.1650A>T (p.Thr550=) c.1911A>T (p.Thr637=) c.1881A>T (p.Thr627=) c.1398A>T (p.Thr466=) c.1293A>T (p.Thr431=)	dbSNP
3	g.122283836G>A	CA354157814	CASR	c.1651G>A (p.Ala551Thr) c.1912G>A (p.Ala638Thr) c.1882G>A (p.Ala628Thr) c.1399G>A (p.Ala467Thr) c.1294G>A (p.Ala432Thr)
3	g.122283836G>C	CA354157818	CASR	c.1651G>C (p.Ala551Pro) c.1912G>C (p.Ala638Pro) c.1882G>C (p.Ala628Pro) c.1399G>C (p.Ala467Pro) c.1294G>C (p.Ala432Pro)
3	g.122283836G>T	CA354157815	CASR	c.1651G>T (p.Ala551Ser) c.1912G>T (p.Ala638Ser) c.1882G>T (p.Ala628Ser) c.1399G>T (p.Ala467Ser) c.1294G>T (p.Ala432Ser)
3	g.122283836_122283837delinsGC	CA1397871073	CASR	c.1651_1652delinsGC (p.Ala551=) c.1912_1913delinsGC (p.Ala638=) c.1882_1883delinsGC (p.Ala628=) c.1399_1400delinsGC (p.Ala467=) c.1294_1295delinsGC (p.Ala432=)
3	g.122283837C>A	CA354157821	CASR	c.1652C>A (p.Ala551Asp) c.1913C>A (p.Ala638Asp) c.1883C>A (p.Ala628Asp) c.1400C>A (p.Ala467Asp) c.1295C>A (p.Ala432Asp)
3	g.122283837C>G	CA354157822	CASR	c.1652C>G (p.Ala551Gly) c.1913C>G (p.Ala638Gly) c.1883C>G (p.Ala628Gly) c.1400C>G (p.Ala467Gly) c.1295C>G (p.Ala432Gly)
3	g.122283837C>T	CA354157825	CASR	c.1652C>T (p.Ala551Val) c.1913C>T (p.Ala638Val) c.1883C>T (p.Ala628Val) c.1400C>T (p.Ala467Val) c.1295C>T (p.Ala432Val)	ClinVar gnomAD v4
3	g.122283838del	CA213574	CASR	c.1653del (p.Phe552LeufsTer?) c.1914del (p.Phe639LeufsTer?) c.1884del (p.Phe629LeufsTer?) c.1401del (p.Phe468LeufsTer?) c.1296del (p.Phe433LeufsTer?)	ClinVar dbSNP
3	g.122283838C>A	CA2569756	CASR	c.1653C>A (p.Ala551=) c.1914C>A (p.Ala638=) c.1884C>A (p.Ala628=) c.1401C>A (p.Ala467=) c.1296C>A (p.Ala432=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122283838C=	CA1397871078	CASR	c.1653C= (p.Ala551=) c.1914C= (p.Ala638=) c.1884C= (p.Ala628=) c.1401C= (p.Ala467=) c.1296C= (p.Ala432=)
3	g.122283838C>G	CA435251932	CASR	c.1653C>G (p.Ala551=) c.1914C>G (p.Ala638=) c.1884C>G (p.Ala628=) c.1401C>G (p.Ala467=) c.1296C>G (p.Ala432=)
3	g.122283838C>T	CA435251933	CASR	c.1653C>T (p.Ala551=) c.1914C>T (p.Ala638=) c.1884C>T (p.Ala628=) c.1401C>T (p.Ala467=) c.1296C>T (p.Ala432=)	ClinVar
3	g.122283839T>A	CA354157830	CASR	c.1654T>A (p.Phe552Ile) c.1915T>A (p.Phe639Ile) c.1885T>A (p.Phe629Ile) c.1402T>A (p.Phe468Ile) c.1297T>A (p.Phe433Ile)
3	g.122283839T>C	CA354157832	CASR	c.1654T>C (p.Phe552Leu) c.1915T>C (p.Phe639Leu) c.1885T>C (p.Phe629Leu) c.1402T>C (p.Phe468Leu) c.1297T>C (p.Phe433Leu)
3	g.122283839T>G	CA354157834	CASR	c.1654T>G (p.Phe552Val) c.1915T>G (p.Phe639Val) c.1885T>G (p.Phe629Val) c.1402T>G (p.Phe468Val) c.1297T>G (p.Phe433Val)
3	g.122283840T>A	CA354157836	CASR	c.1655T>A (p.Phe552Tyr) c.1916T>A (p.Phe639Tyr) c.1886T>A (p.Phe629Tyr) c.1403T>A (p.Phe468Tyr) c.1298T>A (p.Phe433Tyr)
3	g.122283840T>C	CA354157838	CASR	c.1655T>C (p.Phe552Ser) c.1916T>C (p.Phe639Ser) c.1886T>C (p.Phe629Ser) c.1403T>C (p.Phe468Ser) c.1298T>C (p.Phe433Ser)	gnomAD v4
3	g.122283840T>G	CA354157840	CASR	c.1655T>G (p.Phe552Cys) c.1916T>G (p.Phe639Cys) c.1886T>G (p.Phe629Cys) c.1403T>G (p.Phe468Cys) c.1298T>G (p.Phe433Cys)
3	g.122283841T>A	CA354157843	CASR	c.1656T>A (p.Phe552Leu) c.1917T>A (p.Phe639Leu) c.1887T>A (p.Phe629Leu) c.1404T>A (p.Phe468Leu) c.1299T>A (p.Phe433Leu)
3	g.122283841T>C	CA2569757	CASR	c.1656T>C (p.Phe552=) c.1917T>C (p.Phe639=) c.1887T>C (p.Phe629=) c.1404T>C (p.Phe468=) c.1299T>C (p.Phe433=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122283841T>G	CA354157845	CASR	c.1656T>G (p.Phe552Leu) c.1917T>G (p.Phe639Leu) c.1887T>G (p.Phe629Leu) c.1404T>G (p.Phe468Leu) c.1299T>G (p.Phe433Leu)
3	g.122283841T=	CA1397871081	CASR	c.1656T= (p.Phe552=) c.1917T= (p.Phe639=) c.1887T= (p.Phe629=) c.1404T= (p.Phe468=) c.1299T= (p.Phe433=)
3	g.122283842G>A	CA354157847	CASR	c.1657G>A (p.Val553Met) c.1918G>A (p.Val640Met) c.1888G>A (p.Val630Met) c.1405G>A (p.Val469Met) c.1300G>A (p.Val434Met)	ClinVar dbSNP gnomAD v4
3	g.122283842G>C	CA354157849	CASR	c.1657G>C (p.Val553Leu) c.1918G>C (p.Val640Leu) c.1888G>C (p.Val630Leu) c.1405G>C (p.Val469Leu) c.1300G>C (p.Val434Leu)	ClinVar dbSNP
3	g.122283842G=	CA1397871086	CASR	c.1657G= (p.Val553=) c.1918G= (p.Val640=) c.1888G= (p.Val630=) c.1405G= (p.Val469=) c.1300G= (p.Val434=)
3	g.122283842G>T	CA354157851	CASR	c.1657G>T (p.Val553Leu) c.1918G>T (p.Val640Leu) c.1888G>T (p.Val630Leu) c.1405G>T (p.Val469Leu) c.1300G>T (p.Val434Leu)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122283843T>A	CA354157853	CASR	c.1658T>A (p.Val553Glu) c.1919T>A (p.Val640Glu) c.1889T>A (p.Val630Glu) c.1406T>A (p.Val469Glu) c.1301T>A (p.Val434Glu)
3	g.122283843T>C	CA354157855	CASR	c.1658T>C (p.Val553Ala) c.1919T>C (p.Val640Ala) c.1889T>C (p.Val630Ala) c.1406T>C (p.Val469Ala) c.1301T>C (p.Val434Ala)
3	g.122283843T>G	CA354157857	CASR	c.1658T>G (p.Val553Gly) c.1919T>G (p.Val640Gly) c.1889T>G (p.Val630Gly) c.1406T>G (p.Val469Gly) c.1301T>G (p.Val434Gly)
3	g.122283844G>A	CA435251938	CASR	c.1659G>A (p.Val553=) c.1920G>A (p.Val640=) c.1890G>A (p.Val630=) c.1407G>A (p.Val469=) c.1302G>A (p.Val434=)
3	g.122283844G>C	CA435251940	CASR	c.1659G>C (p.Val553=) c.1920G>C (p.Val640=) c.1890G>C (p.Val630=) c.1407G>C (p.Val469=) c.1302G>C (p.Val434=)
3	g.122283844G>T	CA435251941	CASR	c.1659G>T (p.Val553=) c.1920G>T (p.Val640=) c.1890G>T (p.Val630=) c.1407G>T (p.Val469=) c.1302G>T (p.Val434=)
3	g.122283845_122283849del	CA2586972859	CASR	c.1660_1664del (p.Leu554CysfsTer?) c.1921_1925del (p.Leu641CysfsTer?) c.1891_1895del (p.Leu631CysfsTer?) c.1408_1412del (p.Leu470CysfsTer?) c.1303_1307del (p.Leu435CysfsTer?)
3	g.122283845C>A	CA354157859	CASR	c.1660C>A (p.Leu554Met) c.1921C>A (p.Leu641Met) c.1891C>A (p.Leu631Met) c.1408C>A (p.Leu470Met) c.1303C>A (p.Leu435Met)
3	g.122283845C=	CA1397871095	CASR	c.1660C= (p.Leu554=) c.1921C= (p.Leu641=) c.1891C= (p.Leu631=) c.1408C= (p.Leu470=) c.1303C= (p.Leu435=)
3	g.122283845C>G	CA2569758	CASR	c.1660C>G (p.Leu554Val) c.1921C>G (p.Leu641Val) c.1891C>G (p.Leu631Val) c.1408C>G (p.Leu470Val) c.1303C>G (p.Leu435Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122283845C>T	CA435251942	CASR	c.1660C>T (p.Leu554=) c.1921C>T (p.Leu641=) c.1891C>T (p.Leu631=) c.1408C>T (p.Leu470=) c.1303C>T (p.Leu435=)	ClinVar
3	g.122283846T>A	CA354157862	CASR	c.1661T>A (p.Leu554Gln) c.1922T>A (p.Leu641Gln) c.1892T>A (p.Leu631Gln) c.1409T>A (p.Leu470Gln) c.1304T>A (p.Leu435Gln)
3	g.122283846T>C	CA354157864	CASR	c.1661T>C (p.Leu554Pro) c.1922T>C (p.Leu641Pro) c.1892T>C (p.Leu631Pro) c.1409T>C (p.Leu470Pro) c.1304T>C (p.Leu435Pro)
3	g.122283846T>G	CA354157866	CASR	c.1661T>G (p.Leu554Arg) c.1922T>G (p.Leu641Arg) c.1892T>G (p.Leu631Arg) c.1409T>G (p.Leu470Arg) c.1304T>G (p.Leu435Arg)
3	g.122283847G>A	CA435251946	CASR	c.1662G>A (p.Leu554=) c.1923G>A (p.Leu641=) c.1893G>A (p.Leu631=) c.1410G>A (p.Leu470=) c.1305G>A (p.Leu435=)	ClinVar dbSNP
3	g.122283847G>C	CA435251945	CASR	c.1662G>C (p.Leu554=) c.1923G>C (p.Leu641=) c.1893G>C (p.Leu631=) c.1410G>C (p.Leu470=) c.1305G>C (p.Leu435=)
3	g.122283847G>T	CA435251944	CASR	c.1662G>T (p.Leu554=) c.1923G>T (p.Leu641=) c.1893G>T (p.Leu631=) c.1410G>T (p.Leu470=) c.1305G>T (p.Leu435=)
3	g.122283848G>A	CA354157869	CASR	c.1663G>A (p.Gly555Ser) c.1924G>A (p.Gly642Ser) c.1894G>A (p.Gly632Ser) c.1411G>A (p.Gly471Ser) c.1306G>A (p.Gly436Ser)	ClinVar dbSNP
3	g.122283848G>C	CA354157868	CASR	c.1663G>C (p.Gly555Arg) c.1924G>C (p.Gly642Arg) c.1894G>C (p.Gly632Arg) c.1411G>C (p.Gly471Arg) c.1306G>C (p.Gly436Arg)
3	g.122283848G=	CA1397871101	CASR	c.1663G= (p.Gly555=) c.1924G= (p.Gly642=) c.1894G= (p.Gly632=) c.1411G= (p.Gly471=) c.1306G= (p.Gly436=)
3	g.122283848G>T	CA354157867	CASR	c.1663G>T (p.Gly555Cys) c.1924G>T (p.Gly642Cys) c.1894G>T (p.Gly632Cys) c.1411G>T (p.Gly471Cys) c.1306G>T (p.Gly436Cys)
3	g.122283849G>A	CA354157872	CASR	c.1664G>A (p.Gly555Asp) c.1925G>A (p.Gly642Asp) c.1895G>A (p.Gly632Asp) c.1412G>A (p.Gly471Asp) c.1307G>A (p.Gly436Asp)	dbSNP
3	g.122283849G>C	CA354157873	CASR	c.1664G>C (p.Gly555Ala) c.1925G>C (p.Gly642Ala) c.1895G>C (p.Gly632Ala) c.1412G>C (p.Gly471Ala) c.1307G>C (p.Gly436Ala)	ClinVar
3	g.122283849G=	CA1397871103	CASR	c.1664G= (p.Gly555=) c.1925G= (p.Gly642=) c.1895G= (p.Gly632=) c.1412G= (p.Gly471=) c.1307G= (p.Gly436=)
3	g.122283849G>T	CA354157875	CASR	c.1664G>T (p.Gly555Val) c.1925G>T (p.Gly642Val) c.1895G>T (p.Gly632Val) c.1412G>T (p.Gly471Val) c.1307G>T (p.Gly436Val)	gnomAD v4
3	g.122283853_122283854del	CA2586972860	CASR	c.1668_1669del (p.Phe557TyrfsTer?) c.1929_1930del (p.Phe644TyrfsTer?) c.1899_1900del (p.Phe634TyrfsTer?) c.1416_1417del (p.Phe473TyrfsTer?) c.1311_1312del (p.Phe438TyrfsTer?)
3	g.122283850T>A	CA435251950	CASR	c.1665T>A (p.Gly555=) c.1926T>A (p.Gly642=) c.1896T>A (p.Gly632=) c.1413T>A (p.Gly471=) c.1308T>A (p.Gly436=)
3	g.122283850T>C	CA435251951	CASR	c.1665T>C (p.Gly555=) c.1926T>C (p.Gly642=) c.1896T>C (p.Gly632=) c.1413T>C (p.Gly471=) c.1308T>C (p.Gly436=)
3	g.122283850T>G	CA435251952	CASR	c.1665T>G (p.Gly555=) c.1926T>G (p.Gly642=) c.1896T>G (p.Gly632=) c.1413T>G (p.Gly471=) c.1308T>G (p.Gly436=)
3	g.122283850T=	CA1397871106	CASR	c.1665T= (p.Gly555=) c.1926T= (p.Gly642=) c.1896T= (p.Gly632=) c.1413T= (p.Gly471=) c.1308T= (p.Gly436=)
3	g.122283851G>A	CA354157878	CASR	c.1666G>A (p.Val556Met) c.1927G>A (p.Val643Met) c.1897G>A (p.Val633Met) c.1414G>A (p.Val472Met) c.1309G>A (p.Val437Met)
3	g.122283851G>C	CA354157879	CASR	c.1666G>C (p.Val556Leu) c.1927G>C (p.Val643Leu) c.1897G>C (p.Val633Leu) c.1414G>C (p.Val472Leu) c.1309G>C (p.Val437Leu)
3	g.122283851G>T	CA354157881	CASR	c.1666G>T (p.Val556Leu) c.1927G>T (p.Val643Leu) c.1897G>T (p.Val633Leu) c.1414G>T (p.Val472Leu) c.1309G>T (p.Val437Leu)
3	g.122283852_122283886dup	CA1139658226	CASR	c.1667_1701dup (p.Ala568CysfsTer?) c.1928_1962dup (p.Ala655CysfsTer?) c.1898_1932dup (p.Ala645CysfsTer?) c.1415_1449dup (p.Ala484CysfsTer?) c.1310_1344dup (p.Ala449CysfsTer?)	ClinVar dbSNP
3	g.122283852T>A	CA354157884	CASR	c.1667T>A (p.Val556Glu) c.1928T>A (p.Val643Glu) c.1898T>A (p.Val633Glu) c.1415T>A (p.Val472Glu) c.1310T>A (p.Val437Glu)	ClinVar
3	g.122283852T>C	CA354157885	CASR	c.1667T>C (p.Val556Ala) c.1928T>C (p.Val643Ala) c.1898T>C (p.Val633Ala) c.1415T>C (p.Val472Ala) c.1310T>C (p.Val437Ala)
3	g.122283852T>G	CA354157887	CASR	c.1667T>G (p.Val556Gly) c.1928T>G (p.Val643Gly) c.1898T>G (p.Val633Gly) c.1415T>G (p.Val472Gly) c.1310T>G (p.Val437Gly)	ClinVar
3	g.122283853G>A	CA435251956	CASR	c.1668G>A (p.Val556=) c.1929G>A (p.Val643=) c.1899G>A (p.Val633=) c.1416G>A (p.Val472=) c.1311G>A (p.Val437=)
3	g.122283853G>C	CA435251957	CASR	c.1668G>C (p.Val556=) c.1929G>C (p.Val643=) c.1899G>C (p.Val633=) c.1416G>C (p.Val472=) c.1311G>C (p.Val437=)
3	g.122283853G>T	CA435251958	CASR	c.1668G>T (p.Val556=) c.1929G>T (p.Val643=) c.1899G>T (p.Val633=) c.1416G>T (p.Val472=) c.1311G>T (p.Val437=)
3	g.122283854T>A	CA354157890	CASR	c.1669T>A (p.Phe557Ile) c.1930T>A (p.Phe644Ile) c.1900T>A (p.Phe634Ile) c.1417T>A (p.Phe473Ile) c.1312T>A (p.Phe438Ile)
3	g.122283854T>C	CA354157891	CASR	c.1669T>C (p.Phe557Leu) c.1930T>C (p.Phe644Leu) c.1900T>C (p.Phe634Leu) c.1417T>C (p.Phe473Leu) c.1312T>C (p.Phe438Leu)
3	g.122283854T>G	CA354157893	CASR	c.1669T>G (p.Phe557Val) c.1930T>G (p.Phe644Val) c.1900T>G (p.Phe634Val) c.1417T>G (p.Phe473Val) c.1312T>G (p.Phe438Val)	dbSNP gnomAD v2 gnomAD v4
3	g.122283854T=	CA1397871116	CASR	c.1669T= (p.Phe557=) c.1930T= (p.Phe644=) c.1900T= (p.Phe634=) c.1417T= (p.Phe473=) c.1312T= (p.Phe438=)
3	g.122283856dup	CA2580068639	CASR	c.1671dup (p.Ile558TyrfsTer?) c.1932dup (p.Ile645TyrfsTer?) c.1902dup (p.Ile635TyrfsTer?) c.1419dup (p.Ile474TyrfsTer?) c.1314dup (p.Ile439TyrfsTer?)	ClinVar
3	g.122283855T>A	CA354157898	CASR	c.1670T>A (p.Phe557Tyr) c.1931T>A (p.Phe644Tyr) c.1901T>A (p.Phe634Tyr) c.1418T>A (p.Phe473Tyr) c.1313T>A (p.Phe438Tyr)
3	g.122283855T>C	CA354157900	CASR	c.1670T>C (p.Phe557Ser) c.1931T>C (p.Phe644Ser) c.1901T>C (p.Phe634Ser) c.1418T>C (p.Phe473Ser) c.1313T>C (p.Phe438Ser)	ClinVar dbSNP
3	g.122283855T>G	CA354157896	CASR	c.1670T>G (p.Phe557Cys) c.1931T>G (p.Phe644Cys) c.1901T>G (p.Phe634Cys) c.1418T>G (p.Phe473Cys) c.1313T>G (p.Phe438Cys)
3	g.122283856T>A	CA354157904	CASR	c.1671T>A (p.Phe557Leu) c.1932T>A (p.Phe644Leu) c.1902T>A (p.Phe634Leu) c.1419T>A (p.Phe473Leu) c.1314T>A (p.Phe438Leu)
3	g.122283856T>C	CA435251962	CASR	c.1671T>C (p.Phe557=) c.1932T>C (p.Phe644=) c.1902T>C (p.Phe634=) c.1419T>C (p.Phe473=) c.1314T>C (p.Phe438=)
3	g.122283856T>G	CA354157902	CASR	c.1671T>G (p.Phe557Leu) c.1932T>G (p.Phe644Leu) c.1902T>G (p.Phe634Leu) c.1419T>G (p.Phe473Leu) c.1314T>G (p.Phe438Leu)
3	g.122283857A=	CA1397871118	CASR	c.1672A= (p.Ile558=) c.1933A= (p.Ile645=) c.1903A= (p.Ile635=) c.1420A= (p.Ile474=) c.1315A= (p.Ile439=)
3	g.122283857A>C	CA354157906	CASR	c.1672A>C (p.Ile558Leu) c.1933A>C (p.Ile645Leu) c.1903A>C (p.Ile635Leu) c.1420A>C (p.Ile474Leu) c.1315A>C (p.Ile439Leu)	ClinVar dbSNP gnomAD v4
3	g.122283857A>G	CA354157908	CASR	c.1672A>G (p.Ile558Val) c.1933A>G (p.Ile645Val) c.1903A>G (p.Ile635Val) c.1420A>G (p.Ile474Val) c.1315A>G (p.Ile439Val)	ClinVar dbSNP
3	g.122283857A>T	CA354157910	CASR	c.1672A>T (p.Ile558Phe) c.1933A>T (p.Ile645Phe) c.1903A>T (p.Ile635Phe) c.1420A>T (p.Ile474Phe) c.1315A>T (p.Ile439Phe)
3	g.122283858T>A	CA354157912	CASR	c.1673T>A (p.Ile558Asn) c.1934T>A (p.Ile645Asn) c.1904T>A (p.Ile635Asn) c.1421T>A (p.Ile474Asn) c.1316T>A (p.Ile439Asn)
3	g.122283858T>C	CA354157914	CASR	c.1673T>C (p.Ile558Thr) c.1934T>C (p.Ile645Thr) c.1904T>C (p.Ile635Thr) c.1421T>C (p.Ile474Thr) c.1316T>C (p.Ile439Thr)
3	g.122283858T>G	CA354157916	CASR	c.1673T>G (p.Ile558Ser) c.1934T>G (p.Ile645Ser) c.1904T>G (p.Ile635Ser) c.1421T>G (p.Ile474Ser) c.1316T>G (p.Ile439Ser)
3	g.122283859C>A	CA435251963	CASR	c.1674C>A (p.Ile558=) c.1935C>A (p.Ile645=) c.1905C>A (p.Ile635=) c.1422C>A (p.Ile474=) c.1317C>A (p.Ile439=)
3	g.122283859C=	CA1397871120	CASR	c.1674C= (p.Ile558=) c.1935C= (p.Ile645=) c.1905C= (p.Ile635=) c.1422C= (p.Ile474=) c.1317C= (p.Ile439=)
3	g.122283859C>G	CA354157917	CASR	c.1674C>G (p.Ile558Met) c.1935C>G (p.Ile645Met) c.1905C>G (p.Ile635Met) c.1422C>G (p.Ile474Met) c.1317C>G (p.Ile439Met)	dbSNP gnomAD v2 gnomAD v4
3	g.122283859C>T	CA435251964	CASR	c.1674C>T (p.Ile558=) c.1935C>T (p.Ile645=) c.1905C>T (p.Ile635=) c.1422C>T (p.Ile474=) c.1317C>T (p.Ile439=)
3	g.122283860A=	CA1397871124	CASR	c.1675A= (p.Lys559=) c.1936A= (p.Lys646=) c.1906A= (p.Lys636=) c.1423A= (p.Lys475=) c.1318A= (p.Lys440=)
3	g.122283860A>C	CA354157919	CASR	c.1675A>C (p.Lys559Gln) c.1936A>C (p.Lys646Gln) c.1906A>C (p.Lys636Gln) c.1423A>C (p.Lys475Gln) c.1318A>C (p.Lys440Gln)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.122283860A>G	CA2569759	CASR	c.1675A>G (p.Lys559Glu) c.1936A>G (p.Lys646Glu) c.1906A>G (p.Lys636Glu) c.1423A>G (p.Lys475Glu) c.1318A>G (p.Lys440Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.122283860A>T	CA354157922	CASR	c.1675A>T (p.Lys559Ter) c.1936A>T (p.Lys646Ter) c.1906A>T (p.Lys636Ter) c.1423A>T (p.Lys475Ter) c.1318A>T (p.Lys440Ter)	ClinVar
3	g.122283861A>C	CA354157929	CASR	c.1676A>C (p.Lys559Thr) c.1937A>C (p.Lys646Thr) c.1907A>C (p.Lys636Thr) c.1424A>C (p.Lys475Thr) c.1319A>C (p.Lys440Thr)
3	g.122283861A>G	CA354157927	CASR	c.1676A>G (p.Lys559Arg) c.1937A>G (p.Lys646Arg) c.1907A>G (p.Lys636Arg) c.1424A>G (p.Lys475Arg) c.1319A>G (p.Lys440Arg)
3	g.122283861A>T	CA354157925	CASR	c.1676A>T (p.Lys559Met) c.1937A>T (p.Lys646Met) c.1907A>T (p.Lys636Met) c.1424A>T (p.Lys475Met) c.1319A>T (p.Lys440Met)
3	g.122283862G>A	CA435251966	CASR	c.1677G>A (p.Lys559=) c.1938G>A (p.Lys646=) c.1908G>A (p.Lys636=) c.1425G>A (p.Lys475=) c.1320G>A (p.Lys440=)	ClinVar gnomAD v4
3	g.122283862G>C	CA354157931	CASR	c.1677G>C (p.Lys559Asn) c.1938G>C (p.Lys646Asn) c.1908G>C (p.Lys636Asn) c.1425G>C (p.Lys475Asn) c.1320G>C (p.Lys440Asn)	ClinVar
3	g.122283862G>T	CA354157933	CASR	c.1677G>T (p.Lys559Asn) c.1938G>T (p.Lys646Asn) c.1908G>T (p.Lys636Asn) c.1425G>T (p.Lys475Asn) c.1320G>T (p.Lys440Asn)
3	g.122283863T>A	CA354157935	CASR	c.1678T>A (p.Phe560Ile) c.1939T>A (p.Phe647Ile) c.1909T>A (p.Phe637Ile) c.1426T>A (p.Phe476Ile) c.1321T>A (p.Phe441Ile)
3	g.122283863T>C	CA354157937	CASR	c.1678T>C (p.Phe560Leu) c.1939T>C (p.Phe647Leu) c.1909T>C (p.Phe637Leu) c.1426T>C (p.Phe476Leu) c.1321T>C (p.Phe441Leu)
3	g.122283863T>G	CA354157938	CASR	c.1678T>G (p.Phe560Val) c.1939T>G (p.Phe647Val) c.1909T>G (p.Phe637Val) c.1426T>G (p.Phe476Val) c.1321T>G (p.Phe441Val)
3	g.122283864T>A	CA354157940	CASR	c.1679T>A (p.Phe560Tyr) c.1940T>A (p.Phe647Tyr) c.1910T>A (p.Phe637Tyr) c.1427T>A (p.Phe476Tyr) c.1322T>A (p.Phe441Tyr)
3	g.122283864T>C	CA354157941	CASR	c.1679T>C (p.Phe560Ser) c.1940T>C (p.Phe647Ser) c.1910T>C (p.Phe637Ser) c.1427T>C (p.Phe476Ser) c.1322T>C (p.Phe441Ser)	gnomAD v4
3	g.122283864T>G	CA354157942	CASR	c.1679T>G (p.Phe560Cys) c.1940T>G (p.Phe647Cys) c.1910T>G (p.Phe637Cys) c.1427T>G (p.Phe476Cys) c.1322T>G (p.Phe441Cys)

Number of alleles fetched