Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.230177562T>A	CA431539796	SP110	c.957A>T (p.Gly319=) c.1566A>T (p.Gly522=) c.1416A>T (p.Gly472=) n.288A>T n.2382A>T c.1584A>T (p.Gly528=) c.1560A>T (p.Gly520=) n.220A>T c.1434A>T (p.Gly478=)
2	g.230177562T>C	CA431539797	SP110	c.957A>G (p.Gly319=) c.1566A>G (p.Gly522=) c.1416A>G (p.Gly472=) n.288A>G n.2382A>G c.1584A>G (p.Gly528=) c.1560A>G (p.Gly520=) n.220A>G c.1434A>G (p.Gly478=)
2	g.230177562T>G	CA431539798	SP110	c.957A>C (p.Gly319=) c.1566A>C (p.Gly522=) c.1416A>C (p.Gly472=) n.288A>C n.2382A>C c.1584A>C (p.Gly528=) c.1560A>C (p.Gly520=) n.220A>C c.1434A>C (p.Gly478=)
2	g.230177563C>A	CA350903132	SP110	c.956G>T (p.Gly319Val) c.1565G>T (p.Gly522Val) c.1415G>T (p.Gly472Val) n.287G>T n.2381G>T c.1583G>T (p.Gly528Val) c.1559G>T (p.Gly520Val) n.219G>T c.1433G>T (p.Gly478Val)
2	g.230177563C=	CA1334207167	SP110	c.956G= (p.Gly319=) c.1565G= (p.Gly522=) c.1415G= (p.Gly472=) n.287G= n.2381G= c.1583G= (p.Gly528=) c.1559G= (p.Gly520=) n.219G= c.1433G= (p.Gly478=)
2	g.230177563C>G	CA2154464	SP110	c.956G>C (p.Gly319Ala) c.1565G>C (p.Gly522Ala) c.1415G>C (p.Gly472Ala) n.287G>C n.2381G>C c.1583G>C (p.Gly528Ala) c.1559G>C (p.Gly520Ala) n.219G>C c.1433G>C (p.Gly478Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.230177563C>T	CA350903131	SP110	c.956G>A (p.Gly319Glu) c.1565G>A (p.Gly522Glu) c.1415G>A (p.Gly472Glu) n.287G>A n.2381G>A c.1583G>A (p.Gly528Glu) c.1559G>A (p.Gly520Glu) n.219G>A c.1433G>A (p.Gly478Glu)
2	g.230177564C>A	CA350903133	SP110	c.955G>T (p.Gly319Ter) c.1564G>T (p.Gly522Ter) c.1414G>T (p.Gly472Ter) n.286G>T n.2380G>T c.1582G>T (p.Gly528Ter) c.1558G>T (p.Gly520Ter) n.218G>T c.1432G>T (p.Gly478Ter)
2	g.230177564C>G	CA350903134	SP110	c.955G>C (p.Gly319Arg) c.1564G>C (p.Gly522Arg) c.1414G>C (p.Gly472Arg) n.286G>C n.2380G>C c.1582G>C (p.Gly528Arg) c.1558G>C (p.Gly520Arg) n.218G>C c.1432G>C (p.Gly478Arg)
2	g.230177564C>T	CA350903135	SP110	c.955G>A (p.Gly319Arg) c.1564G>A (p.Gly522Arg) c.1414G>A (p.Gly472Arg) n.286G>A n.2380G>A c.1582G>A (p.Gly528Arg) c.1558G>A (p.Gly520Arg) n.218G>A c.1432G>A (p.Gly478Arg)
2	g.230177565T>A	CA350903136	SP110	c.954A>T (p.Glu318Asp) c.1563A>T (p.Glu521Asp) c.1413A>T (p.Glu471Asp) n.285A>T n.2379A>T c.1581A>T (p.Glu527Asp) c.1557A>T (p.Glu519Asp) n.217A>T c.1431A>T (p.Glu477Asp)
2	g.230177565T>C	CA431539803	SP110	c.954A>G (p.Glu318=) c.1563A>G (p.Glu521=) c.1413A>G (p.Glu471=) n.285A>G n.2379A>G c.1581A>G (p.Glu527=) c.1557A>G (p.Glu519=) n.217A>G c.1431A>G (p.Glu477=)	COSMIC COSMIC
2	g.230177565T>G	CA350903137	SP110	c.954A>C (p.Glu318Asp) c.1563A>C (p.Glu521Asp) c.1413A>C (p.Glu471Asp) n.285A>C n.2379A>C c.1581A>C (p.Glu527Asp) c.1557A>C (p.Glu519Asp) n.217A>C c.1431A>C (p.Glu477Asp)
2	g.230177566T>A	CA350903138	SP110	c.953A>T (p.Glu318Val) c.1562A>T (p.Glu521Val) c.1412A>T (p.Glu471Val) n.284A>T n.2378A>T c.1580A>T (p.Glu527Val) c.1556A>T (p.Glu519Val) n.216A>T c.1430A>T (p.Glu477Val)
2	g.230177566T>C	CA350903139	SP110	c.953A>G (p.Glu318Gly) c.1562A>G (p.Glu521Gly) c.1412A>G (p.Glu471Gly) n.284A>G n.2378A>G c.1580A>G (p.Glu527Gly) c.1556A>G (p.Glu519Gly) n.216A>G c.1430A>G (p.Glu477Gly)
2	g.230177566T>G	CA350903140	SP110	c.953A>C (p.Glu318Ala) c.1562A>C (p.Glu521Ala) c.1412A>C (p.Glu471Ala) n.284A>C n.2378A>C c.1580A>C (p.Glu527Ala) c.1556A>C (p.Glu519Ala) n.216A>C c.1430A>C (p.Glu477Ala)
2	g.230177567C>A	CA350903141	SP110	c.952G>T (p.Glu318Ter) c.1561G>T (p.Glu521Ter) c.1411G>T (p.Glu471Ter) n.283G>T n.2377G>T c.1579G>T (p.Glu527Ter) c.1555G>T (p.Glu519Ter) n.215G>T c.1429G>T (p.Glu477Ter)
2	g.230177567C>G	CA350903142	SP110	c.952G>C (p.Glu318Gln) c.1561G>C (p.Glu521Gln) c.1411G>C (p.Glu471Gln) n.283G>C n.2377G>C c.1579G>C (p.Glu527Gln) c.1555G>C (p.Glu519Gln) n.215G>C c.1429G>C (p.Glu477Gln)
2	g.230177567C>T	CA350903143	SP110	c.952G>A (p.Glu318Lys) c.1561G>A (p.Glu521Lys) c.1411G>A (p.Glu471Lys) n.283G>A n.2377G>A c.1579G>A (p.Glu527Lys) c.1555G>A (p.Glu519Lys) n.215G>A c.1429G>A (p.Glu477Lys)
2	g.230177568A>C	CA350903144	SP110	c.951T>G (p.Cys317Trp) c.1560T>G (p.Cys520Trp) c.1410T>G (p.Cys470Trp) n.282T>G n.2376T>G c.1578T>G (p.Cys526Trp) c.1554T>G (p.Cys518Trp) n.214T>G c.1428T>G (p.Cys476Trp)
2	g.230177568A>G	CA431539804	SP110	c.951T>C (p.Cys317=) c.1560T>C (p.Cys520=) c.1410T>C (p.Cys470=) n.282T>C n.2376T>C c.1578T>C (p.Cys526=) c.1554T>C (p.Cys518=) n.214T>C c.1428T>C (p.Cys476=)
2	g.230177568A>T	CA350903145	SP110	c.951T>A (p.Cys317Ter) c.1560T>A (p.Cys520Ter) c.1410T>A (p.Cys470Ter) n.282T>A n.2376T>A c.1578T>A (p.Cys526Ter) c.1554T>A (p.Cys518Ter) n.214T>A c.1428T>A (p.Cys476Ter)
2	g.230177569C>A	CA350903146	SP110	c.950G>T (p.Cys317Phe) c.1559G>T (p.Cys520Phe) c.1409G>T (p.Cys470Phe) n.281G>T n.2375G>T c.1577G>T (p.Cys526Phe) c.1553G>T (p.Cys518Phe) n.213G>T c.1427G>T (p.Cys476Phe)
2	g.230177569C=	CA1334207168	SP110	c.950G= (p.Cys317=) c.1559G= (p.Cys520=) c.1409G= (p.Cys470=) n.281G= n.2375G= c.1577G= (p.Cys526=) c.1553G= (p.Cys518=) n.213G= c.1427G= (p.Cys476=)
2	g.230177569C>G	CA350903147	SP110	c.950G>C (p.Cys317Ser) c.1559G>C (p.Cys520Ser) c.1409G>C (p.Cys470Ser) n.281G>C n.2375G>C c.1577G>C (p.Cys526Ser) c.1553G>C (p.Cys518Ser) n.213G>C c.1427G>C (p.Cys476Ser)
2	g.230177569C>T	CA350903148	SP110	c.950G>A (p.Cys317Tyr) c.1559G>A (p.Cys520Tyr) c.1409G>A (p.Cys470Tyr) n.281G>A n.2375G>A c.1577G>A (p.Cys526Tyr) c.1553G>A (p.Cys518Tyr) n.213G>A c.1427G>A (p.Cys476Tyr)	dbSNP
2	g.230177570A>C	CA350903149	SP110	c.949T>G (p.Cys317Gly) c.1558T>G (p.Cys520Gly) c.1408T>G (p.Cys470Gly) n.280T>G n.2374T>G c.1576T>G (p.Cys526Gly) c.1552T>G (p.Cys518Gly) n.212T>G c.1426T>G (p.Cys476Gly)
2	g.230177570A>G	CA350903150	SP110	c.949T>C (p.Cys317Arg) c.1558T>C (p.Cys520Arg) c.1408T>C (p.Cys470Arg) n.280T>C n.2374T>C c.1576T>C (p.Cys526Arg) c.1552T>C (p.Cys518Arg) n.212T>C c.1426T>C (p.Cys476Arg)
2	g.230177570A>T	CA350903151	SP110	c.949T>A (p.Cys317Ser) c.1558T>A (p.Cys520Ser) c.1408T>A (p.Cys470Ser) n.280T>A n.2374T>A c.1576T>A (p.Cys526Ser) c.1552T>A (p.Cys518Ser) n.212T>A c.1426T>A (p.Cys476Ser)
2	g.230177571A>C	CA431539806	SP110	c.948T>G (p.Arg316=) c.1557T>G (p.Arg519=) c.1407T>G (p.Arg469=) n.279T>G n.2373T>G c.1575T>G (p.Arg525=) c.1551T>G (p.Arg517=) n.211T>G c.1425T>G (p.Arg475=)
2	g.230177571A>G	CA431539808	SP110	c.948T>C (p.Arg316=) c.1557T>C (p.Arg519=) c.1407T>C (p.Arg469=) n.279T>C n.2373T>C c.1575T>C (p.Arg525=) c.1551T>C (p.Arg517=) n.211T>C c.1425T>C (p.Arg475=)
2	g.230177571A>T	CA431539807	SP110	c.948T>A (p.Arg316=) c.1557T>A (p.Arg519=) c.1407T>A (p.Arg469=) n.279T>A n.2373T>A c.1575T>A (p.Arg525=) c.1551T>A (p.Arg517=) n.211T>A c.1425T>A (p.Arg475=)
2	g.230177572C>A	CA350903152	SP110	c.947G>T (p.Arg316Leu) c.1556G>T (p.Arg519Leu) c.1406G>T (p.Arg469Leu) n.278G>T n.2372G>T c.1574G>T (p.Arg525Leu) c.1550G>T (p.Arg517Leu) n.210G>T c.1424G>T (p.Arg475Leu)
2	g.230177572C=	CA1334207169	SP110	c.947G= (p.Arg316=) c.1556G= (p.Arg519=) c.1406G= (p.Arg469=) n.278G= n.2372G= c.1574G= (p.Arg525=) c.1550G= (p.Arg517=) n.210G= c.1424G= (p.Arg475=)
2	g.230177572C>G	CA350903153	SP110	c.947G>C (p.Arg316Pro) c.1556G>C (p.Arg519Pro) c.1406G>C (p.Arg469Pro) n.278G>C n.2372G>C c.1574G>C (p.Arg525Pro) c.1550G>C (p.Arg517Pro) n.210G>C c.1424G>C (p.Arg475Pro)
2	g.230177572C>T	CA2154465	SP110	c.947G>A (p.Arg316His) c.1556G>A (p.Arg519His) c.1406G>A (p.Arg469His) n.278G>A n.2372G>A c.1574G>A (p.Arg525His) c.1550G>A (p.Arg517His) n.210G>A c.1424G>A (p.Arg475His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2	g.230177573G>A	CA2154466	SP110	c.946C>T (p.Arg316Cys) c.1555C>T (p.Arg519Cys) c.1405C>T (p.Arg469Cys) n.277C>T n.2371C>T c.1573C>T (p.Arg525Cys) c.1549C>T (p.Arg517Cys) n.209C>T c.1423C>T (p.Arg475Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2	g.230177573G>C	CA350903154	SP110	c.946C>G (p.Arg316Gly) c.1555C>G (p.Arg519Gly) c.1405C>G (p.Arg469Gly) n.277C>G n.2371C>G c.1573C>G (p.Arg525Gly) c.1549C>G (p.Arg517Gly) n.209C>G c.1423C>G (p.Arg475Gly)	dbSNP gnomAD v2 gnomAD v4
2	g.230177573G=	CA1334207170	SP110	c.946C= (p.Arg316=) c.1555C= (p.Arg519=) c.1405C= (p.Arg469=) n.277C= n.2371C= c.1573C= (p.Arg525=) c.1549C= (p.Arg517=) n.209C= c.1423C= (p.Arg475=)
2	g.230177573G>T	CA66735093	SP110	c.946C>A (p.Arg316Ser) c.1555C>A (p.Arg519Ser) c.1405C>A (p.Arg469Ser) n.277C>A n.2371C>A c.1573C>A (p.Arg525Ser) c.1549C>A (p.Arg517Ser) n.209C>A c.1423C>A (p.Arg475Ser)	dbSNP gnomAD v3 gnomAD v4
2	g.230177574T>A	CA431539810	SP110	c.945A>T (p.Ile315=) c.1554A>T (p.Ile518=) c.1404A>T (p.Ile468=) n.276A>T n.2370A>T c.1572A>T (p.Ile524=) c.1548A>T (p.Ile516=) n.208A>T c.1422A>T (p.Ile474=)
2	g.230177574T>C	CA350903155	SP110	c.945A>G (p.Ile315Met) c.1554A>G (p.Ile518Met) c.1404A>G (p.Ile468Met) n.276A>G n.2370A>G c.1572A>G (p.Ile524Met) c.1548A>G (p.Ile516Met) n.208A>G c.1422A>G (p.Ile474Met)
2	g.230177574T>G	CA431539811	SP110	c.945A>C (p.Ile315=) c.1554A>C (p.Ile518=) c.1404A>C (p.Ile468=) n.276A>C n.2370A>C c.1572A>C (p.Ile524=) c.1548A>C (p.Ile516=) n.208A>C c.1422A>C (p.Ile474=)
2	g.230177575A=	CA1334207171	SP110	c.944T= (p.Ile315=) c.1553T= (p.Ile518=) c.1403T= (p.Ile468=) n.275T= n.2369T= c.1571T= (p.Ile524=) c.1547T= (p.Ile516=) n.207T= c.1421T= (p.Ile474=)
2	g.230177575A>C	CA350903156	SP110	c.944T>G (p.Ile315Arg) c.1553T>G (p.Ile518Arg) c.1403T>G (p.Ile468Arg) n.275T>G n.2369T>G c.1571T>G (p.Ile524Arg) c.1547T>G (p.Ile516Arg) n.207T>G c.1421T>G (p.Ile474Arg)
2	g.230177575A>G	CA2154467	SP110	c.944T>C (p.Ile315Thr) c.1553T>C (p.Ile518Thr) c.1403T>C (p.Ile468Thr) n.275T>C n.2369T>C c.1571T>C (p.Ile524Thr) c.1547T>C (p.Ile516Thr) n.207T>C c.1421T>C (p.Ile474Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.230177575A>T	CA2154468	SP110	c.944T>A (p.Ile315Lys) c.1553T>A (p.Ile518Lys) c.1403T>A (p.Ile468Lys) n.275T>A n.2369T>A c.1571T>A (p.Ile524Lys) c.1547T>A (p.Ile516Lys) n.207T>A c.1421T>A (p.Ile474Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.230177576T>A	CA350903157	SP110	c.943A>T (p.Ile315Leu) c.1552A>T (p.Ile518Leu) c.1402A>T (p.Ile468Leu) n.274A>T n.2368A>T c.1570A>T (p.Ile524Leu) c.1546A>T (p.Ile516Leu) n.206A>T c.1420A>T (p.Ile474Leu)
2	g.230177576T>C	CA350903158	SP110	c.943A>G (p.Ile315Val) c.1552A>G (p.Ile518Val) c.1402A>G (p.Ile468Val) n.274A>G n.2368A>G c.1570A>G (p.Ile524Val) c.1546A>G (p.Ile516Val) n.206A>G c.1420A>G (p.Ile474Val)	COSMIC COSMIC
2	g.230177576T>G	CA350903159	SP110	c.943A>C (p.Ile315Leu) c.1552A>C (p.Ile518Leu) c.1402A>C (p.Ile468Leu) n.274A>C n.2368A>C c.1570A>C (p.Ile524Leu) c.1546A>C (p.Ile516Leu) n.206A>C c.1420A>C (p.Ile474Leu)
2	g.230177577A=	CA1334207172	SP110	c.942T= (p.Asn314=) c.1551T= (p.Asn517=) c.1401T= (p.Asn467=) n.273T= n.2367T= c.1569T= (p.Asn523=) c.1545T= (p.Asn515=) n.205T= c.1419T= (p.Asn473=)
2	g.230177577A>C	CA350903160	SP110	c.942T>G (p.Asn314Lys) c.1551T>G (p.Asn517Lys) c.1401T>G (p.Asn467Lys) n.273T>G n.2367T>G c.1569T>G (p.Asn523Lys) c.1545T>G (p.Asn515Lys) n.205T>G c.1419T>G (p.Asn473Lys)
2	g.230177577A>G	CA431539813	SP110	c.942T>C (p.Asn314=) c.1551T>C (p.Asn517=) c.1401T>C (p.Asn467=) n.273T>C n.2367T>C c.1569T>C (p.Asn523=) c.1545T>C (p.Asn515=) n.205T>C c.1419T>C (p.Asn473=)	dbSNP gnomAD v3 gnomAD v4
2	g.230177577A>T	CA350903161	SP110	c.942T>A (p.Asn314Lys) c.1551T>A (p.Asn517Lys) c.1401T>A (p.Asn467Lys) n.273T>A n.2367T>A c.1569T>A (p.Asn523Lys) c.1545T>A (p.Asn515Lys) n.205T>A c.1419T>A (p.Asn473Lys)
2	g.230177578T>A	CA350903162	SP110	c.941A>T (p.Asn314Ile) c.1550A>T (p.Asn517Ile) c.1400A>T (p.Asn467Ile) n.272A>T n.2366A>T c.1568A>T (p.Asn523Ile) c.1544A>T (p.Asn515Ile) n.204A>T c.1418A>T (p.Asn473Ile)
2	g.230177578T>C	CA350903163	SP110	c.941A>G (p.Asn314Ser) c.1550A>G (p.Asn517Ser) c.1400A>G (p.Asn467Ser) n.272A>G n.2366A>G c.1568A>G (p.Asn523Ser) c.1544A>G (p.Asn515Ser) n.204A>G c.1418A>G (p.Asn473Ser)	COSMIC COSMIC
2	g.230177578T>G	CA350903164	SP110	c.941A>C (p.Asn314Thr) c.1550A>C (p.Asn517Thr) c.1400A>C (p.Asn467Thr) n.272A>C n.2366A>C c.1568A>C (p.Asn523Thr) c.1544A>C (p.Asn515Thr) n.204A>C c.1418A>C (p.Asn473Thr)
2	g.230177579T>A	CA350903165	SP110	c.940A>T (p.Asn314Tyr) c.1549A>T (p.Asn517Tyr) c.1399A>T (p.Asn467Tyr) n.271A>T n.2365A>T c.1567A>T (p.Asn523Tyr) c.1543A>T (p.Asn515Tyr) n.203A>T c.1417A>T (p.Asn473Tyr)
2	g.230177579T>C	CA66735101	SP110	c.940A>G (p.Asn314Asp) c.1549A>G (p.Asn517Asp) c.1399A>G (p.Asn467Asp) n.271A>G n.2365A>G c.1567A>G (p.Asn523Asp) c.1543A>G (p.Asn515Asp) n.203A>G c.1417A>G (p.Asn473Asp)	dbSNP
2	g.230177579T>G	CA350903166	SP110	c.940A>C (p.Asn314His) c.1549A>C (p.Asn517His) c.1399A>C (p.Asn467His) n.271A>C n.2365A>C c.1567A>C (p.Asn523His) c.1543A>C (p.Asn515His) n.203A>C c.1417A>C (p.Asn473His)
2	g.230177579T=	CA1334207173	SP110	c.940A= (p.Asn314=) c.1549A= (p.Asn517=) c.1399A= (p.Asn467=) n.271A= n.2365A= c.1567A= (p.Asn523=) c.1543A= (p.Asn515=) n.203A= c.1417A= (p.Asn473=)
2	g.230177580C>A	CA431539815	SP110	c.939G>T (p.Arg313=) c.1548G>T (p.Arg516=) c.1398G>T (p.Arg466=) n.270G>T n.2364G>T c.1566G>T (p.Arg522=) c.1542G>T (p.Arg514=) n.202G>T c.1416G>T (p.Arg472=)
2	g.230177580C>G	CA431539817	SP110	c.939G>C (p.Arg313=) c.1548G>C (p.Arg516=) c.1398G>C (p.Arg466=) n.270G>C n.2364G>C c.1566G>C (p.Arg522=) c.1542G>C (p.Arg514=) n.202G>C c.1416G>C (p.Arg472=)
2	g.230177580C>T	CA431539818	SP110	c.939G>A (p.Arg313=) c.1548G>A (p.Arg516=) c.1398G>A (p.Arg466=) n.270G>A n.2364G>A c.1566G>A (p.Arg522=) c.1542G>A (p.Arg514=) n.202G>A c.1416G>A (p.Arg472=)
2	g.230177581C>A	CA350903167	SP110	c.938G>T (p.Arg313Leu) c.1547G>T (p.Arg516Leu) c.1397G>T (p.Arg466Leu) n.269G>T n.2363G>T c.1565G>T (p.Arg522Leu) c.1541G>T (p.Arg514Leu) n.201G>T c.1415G>T (p.Arg472Leu)
2	g.230177581C=	CA1334207174	SP110	c.938G= (p.Arg313=) c.1547G= (p.Arg516=) c.1397G= (p.Arg466=) n.269G= n.2363G= c.1565G= (p.Arg522=) c.1541G= (p.Arg514=) n.201G= c.1415G= (p.Arg472=)
2	g.230177581C>G	CA350903168	SP110	c.938G>C (p.Arg313Pro) c.1547G>C (p.Arg516Pro) c.1397G>C (p.Arg466Pro) n.269G>C n.2363G>C c.1565G>C (p.Arg522Pro) c.1541G>C (p.Arg514Pro) n.201G>C c.1415G>C (p.Arg472Pro)
2	g.230177581C>T	CA2154469	SP110	c.938G>A (p.Arg313Gln) c.1547G>A (p.Arg516Gln) c.1397G>A (p.Arg466Gln) n.269G>A n.2363G>A c.1565G>A (p.Arg522Gln) c.1541G>A (p.Arg514Gln) n.201G>A c.1415G>A (p.Arg472Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2	g.230177582G>A	CA2154470	SP110	c.937C>T (p.Arg313Trp) c.1546C>T (p.Arg516Trp) c.1396C>T (p.Arg466Trp) n.268C>T n.2362C>T c.1564C>T (p.Arg522Trp) c.1540C>T (p.Arg514Trp) n.200C>T c.1414C>T (p.Arg472Trp)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2	g.230177582G>C	CA350903169	SP110	c.937C>G (p.Arg313Gly) c.1546C>G (p.Arg516Gly) c.1396C>G (p.Arg466Gly) n.268C>G n.2362C>G c.1564C>G (p.Arg522Gly) c.1540C>G (p.Arg514Gly) n.200C>G c.1414C>G (p.Arg472Gly)
2	g.230177582G=	CA1334207175	SP110	c.937C= (p.Arg313=) c.1546C= (p.Arg516=) c.1396C= (p.Arg466=) n.268C= n.2362C= c.1564C= (p.Arg522=) c.1540C= (p.Arg514=) n.200C= c.1414C= (p.Arg472=)
2	g.230177582G>T	CA431539819	SP110	c.937C>A (p.Arg313=) c.1546C>A (p.Arg516=) c.1396C>A (p.Arg466=) n.268C>A n.2362C>A c.1564C>A (p.Arg522=) c.1540C>A (p.Arg514=) n.200C>A c.1414C>A (p.Arg472=)	dbSNP
2	g.230177583T>A	CA350903170	SP110	c.936A>T (p.Lys312Asn) c.1545A>T (p.Lys515Asn) c.1395A>T (p.Lys465Asn) n.267A>T n.2361A>T c.1563A>T (p.Lys521Asn) c.1539A>T (p.Lys513Asn) n.199A>T c.1413A>T (p.Lys471Asn)
2	g.230177583T>C	CA431539820	SP110	c.936A>G (p.Lys312=) c.1545A>G (p.Lys515=) c.1395A>G (p.Lys465=) n.267A>G n.2361A>G c.1563A>G (p.Lys521=) c.1539A>G (p.Lys513=) n.199A>G c.1413A>G (p.Lys471=)
2	g.230177583T>G	CA350903171	SP110	c.936A>C (p.Lys312Asn) c.1545A>C (p.Lys515Asn) c.1395A>C (p.Lys465Asn) n.267A>C n.2361A>C c.1563A>C (p.Lys521Asn) c.1539A>C (p.Lys513Asn) n.199A>C c.1413A>C (p.Lys471Asn)
2	g.230177584T>A	CA350903172	SP110	c.935A>T (p.Lys312Ile) c.1544A>T (p.Lys515Ile) c.1394A>T (p.Lys465Ile) n.266A>T n.2360A>T c.1562A>T (p.Lys521Ile) c.1538A>T (p.Lys513Ile) n.198A>T c.1412A>T (p.Lys471Ile)
2	g.230177584T>C	CA350903173	SP110	c.935A>G (p.Lys312Arg) c.1544A>G (p.Lys515Arg) c.1394A>G (p.Lys465Arg) n.266A>G n.2360A>G c.1562A>G (p.Lys521Arg) c.1538A>G (p.Lys513Arg) n.198A>G c.1412A>G (p.Lys471Arg)
2	g.230177584T>G	CA350903174	SP110	c.935A>C (p.Lys312Thr) c.1544A>C (p.Lys515Thr) c.1394A>C (p.Lys465Thr) n.266A>C n.2360A>C c.1562A>C (p.Lys521Thr) c.1538A>C (p.Lys513Thr) n.198A>C c.1412A>C (p.Lys471Thr)
2	g.230177585T>A	CA350903175	SP110	c.934A>T (p.Lys312Ter) c.1543A>T (p.Lys515Ter) c.1393A>T (p.Lys465Ter) n.265A>T n.2359A>T c.1561A>T (p.Lys521Ter) c.1537A>T (p.Lys513Ter) n.197A>T c.1411A>T (p.Lys471Ter)
2	g.230177585T>C	CA350903176	SP110	c.934A>G (p.Lys312Glu) c.1543A>G (p.Lys515Glu) c.1393A>G (p.Lys465Glu) n.265A>G n.2359A>G c.1561A>G (p.Lys521Glu) c.1537A>G (p.Lys513Glu) n.197A>G c.1411A>G (p.Lys471Glu)
2	g.230177585T>G	CA350903177	SP110	c.934A>C (p.Lys312Gln) c.1543A>C (p.Lys515Gln) c.1393A>C (p.Lys465Gln) n.265A>C n.2359A>C c.1561A>C (p.Lys521Gln) c.1537A>C (p.Lys513Gln) n.197A>C c.1411A>C (p.Lys471Gln)
2	g.230177585_230177586delinsTC	CA1334207176	SP110	c.933_934delinsGA (p.Trp311=) c.1542_1543delinsGA (p.Trp514=) c.1392_1393delinsGA (p.Trp464=) n.264_265delinsGA n.2358_2359delinsGA c.1560_1561delinsGA (p.Trp520=) c.1536_1537delinsGA (p.Trp512=) n.196_197delinsGA c.1410_1411delinsGA (p.Trp470=)
2	g.230177586C>A	CA350903178	SP110	c.933G>T (p.Trp311Cys) c.1542G>T (p.Trp514Cys) c.1392G>T (p.Trp464Cys) n.264G>T n.2358G>T c.1560G>T (p.Trp520Cys) c.1536G>T (p.Trp512Cys) n.196G>T c.1410G>T (p.Trp470Cys)
2	g.230177586C>G	CA350903179	SP110	c.933G>C (p.Trp311Cys) c.1542G>C (p.Trp514Cys) c.1392G>C (p.Trp464Cys) n.264G>C n.2358G>C c.1560G>C (p.Trp520Cys) c.1536G>C (p.Trp512Cys) n.196G>C c.1410G>C (p.Trp470Cys)
2	g.230177586C>T	CA350903180	SP110	c.933G>A (p.Trp311Ter) c.1542G>A (p.Trp514Ter) c.1392G>A (p.Trp464Ter) n.264G>A n.2358G>A c.1560G>A (p.Trp520Ter) c.1536G>A (p.Trp512Ter) n.196G>A c.1410G>A (p.Trp470Ter)
2	g.230177587del	CA539929914	SP110	c.933del (p.Trp311Ter) c.1542del (p.Trp514Ter) c.1392del (p.Trp464Ter) n.264del n.2358del c.1560del (p.Trp520Ter) c.1536del (p.Trp512Ter) n.196del c.1410del (p.Trp470Ter)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.230177587C>A	CA2154471	SP110	c.932G>T (p.Trp311Leu) c.1541G>T (p.Trp514Leu) c.1391G>T (p.Trp464Leu) n.263G>T n.2357G>T c.1559G>T (p.Trp520Leu) c.1535G>T (p.Trp512Leu) n.195G>T c.1409G>T (p.Trp470Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.230177587C=	CA1334207177	SP110	c.932G= (p.Trp311=) c.1541G= (p.Trp514=) c.1391G= (p.Trp464=) n.263G= n.2357G= c.1559G= (p.Trp520=) c.1535G= (p.Trp512=) n.195G= c.1409G= (p.Trp470=)
2	g.230177587C>G	CA350903182	SP110	c.932G>C (p.Trp311Ser) c.1541G>C (p.Trp514Ser) c.1391G>C (p.Trp464Ser) n.263G>C n.2357G>C c.1559G>C (p.Trp520Ser) c.1535G>C (p.Trp512Ser) n.195G>C c.1409G>C (p.Trp470Ser)
2	g.230177587C>T	CA350903181	SP110	c.932G>A (p.Trp311Ter) c.1541G>A (p.Trp514Ter) c.1391G>A (p.Trp464Ter) n.263G>A n.2357G>A c.1559G>A (p.Trp520Ter) c.1535G>A (p.Trp512Ter) n.195G>A c.1409G>A (p.Trp470Ter)	dbSNP gnomAD v2 gnomAD v4
2	g.230177588A=	CA1334207178	SP110	c.931T= (p.Trp311=) c.1540T= (p.Trp514=) c.1390T= (p.Trp464=) n.262T= n.2356T= c.1558T= (p.Trp520=) c.1534T= (p.Trp512=) n.194T= c.1408T= (p.Trp470=)
2	g.230177588A>C	CA350903183	SP110	c.931T>G (p.Trp311Gly) c.1540T>G (p.Trp514Gly) c.1390T>G (p.Trp464Gly) n.262T>G n.2356T>G c.1558T>G (p.Trp520Gly) c.1534T>G (p.Trp512Gly) n.194T>G c.1408T>G (p.Trp470Gly)
2	g.230177588A>G	CA350903184	SP110	c.931T>C (p.Trp311Arg) c.1540T>C (p.Trp514Arg) c.1390T>C (p.Trp464Arg) n.262T>C n.2356T>C c.1558T>C (p.Trp520Arg) c.1534T>C (p.Trp512Arg) n.194T>C c.1408T>C (p.Trp470Arg)	dbSNP gnomAD v2
2	g.230177588A>T	CA350903185	SP110	c.931T>A (p.Trp311Arg) c.1540T>A (p.Trp514Arg) c.1390T>A (p.Trp464Arg) n.262T>A n.2356T>A c.1558T>A (p.Trp520Arg) c.1534T>A (p.Trp512Arg) n.194T>A c.1408T>A (p.Trp470Arg)
2	g.230177589G>A	CA431539823	SP110	c.930C>T (p.Asn310=) c.1539C>T (p.Asn513=) c.1389C>T (p.Asn463=) n.261C>T n.2355C>T c.1557C>T (p.Asn519=) c.1533C>T (p.Asn511=) n.193C>T c.1407C>T (p.Asn469=)	gnomAD v4
2	g.230177589G>C	CA350903186	SP110	c.930C>G (p.Asn310Lys) c.1539C>G (p.Asn513Lys) c.1389C>G (p.Asn463Lys) n.261C>G n.2355C>G c.1557C>G (p.Asn519Lys) c.1533C>G (p.Asn511Lys) n.193C>G c.1407C>G (p.Asn469Lys)
2	g.230177589G>T	CA350903187	SP110	c.930C>A (p.Asn310Lys) c.1539C>A (p.Asn513Lys) c.1389C>A (p.Asn463Lys) n.261C>A n.2355C>A c.1557C>A (p.Asn519Lys) c.1533C>A (p.Asn511Lys) n.193C>A c.1407C>A (p.Asn469Lys)
2	g.230177590T>A	CA350903190	SP110	c.929A>T (p.Asn310Ile) c.1538A>T (p.Asn513Ile) c.1388A>T (p.Asn463Ile) n.260A>T n.2354A>T c.1556A>T (p.Asn519Ile) c.1532A>T (p.Asn511Ile) n.192A>T c.1406A>T (p.Asn469Ile)
2	g.230177590T>C	CA350903188	SP110	c.929A>G (p.Asn310Ser) c.1538A>G (p.Asn513Ser) c.1388A>G (p.Asn463Ser) n.260A>G n.2354A>G c.1556A>G (p.Asn519Ser) c.1532A>G (p.Asn511Ser) n.192A>G c.1406A>G (p.Asn469Ser)	gnomAD v4
2	g.230177590T>G	CA350903189	SP110	c.929A>C (p.Asn310Thr) c.1538A>C (p.Asn513Thr) c.1388A>C (p.Asn463Thr) n.260A>C n.2354A>C c.1556A>C (p.Asn519Thr) c.1532A>C (p.Asn511Thr) n.192A>C c.1406A>C (p.Asn469Thr)
2	g.230177591T>A	CA350903191	SP110	c.928A>T (p.Asn310Tyr) c.1537A>T (p.Asn513Tyr) c.1387A>T (p.Asn463Tyr) n.259A>T n.2353A>T c.1555A>T (p.Asn519Tyr) c.1531A>T (p.Asn511Tyr) n.191A>T c.1405A>T (p.Asn469Tyr)
2	g.230177591T>C	CA350903192	SP110	c.928A>G (p.Asn310Asp) c.1537A>G (p.Asn513Asp) c.1387A>G (p.Asn463Asp) n.259A>G n.2353A>G c.1555A>G (p.Asn519Asp) c.1531A>G (p.Asn511Asp) n.191A>G c.1405A>G (p.Asn469Asp)
2	g.230177591T>G	CA350903193	SP110	c.928A>C (p.Asn310His) c.1537A>C (p.Asn513His) c.1387A>C (p.Asn463His) n.259A>C n.2353A>C c.1555A>C (p.Asn519His) c.1531A>C (p.Asn511His) n.191A>C c.1405A>C (p.Asn469His)
2	g.230177592del	CA2701864485	SP110	c.927del (p.Asn310ThrfsTer11) c.1536del (p.Asn513ThrfsTer11) c.1386del (p.Asn463ThrfsTer11) n.258del n.2352del c.1554del (p.Asn519ThrfsTer11) c.1530del (p.Asn511ThrfsTer11) n.190del c.1404del (p.Asn469ThrfsTer11)	dbSNP
2	g.230177592C>A	CA350903194	SP110	c.927G>T (p.Lys309Asn) c.1536G>T (p.Lys512Asn) c.1386G>T (p.Lys462Asn) n.258G>T n.2352G>T c.1554G>T (p.Lys518Asn) c.1530G>T (p.Lys510Asn) n.190G>T c.1404G>T (p.Lys468Asn)	COSMIC
2	g.230177592C>G	CA350903195	SP110	c.927G>C (p.Lys309Asn) c.1536G>C (p.Lys512Asn) c.1386G>C (p.Lys462Asn) n.258G>C n.2352G>C c.1554G>C (p.Lys518Asn) c.1530G>C (p.Lys510Asn) n.190G>C c.1404G>C (p.Lys468Asn)	gnomAD v4 COSMIC COSMIC
2	g.230177592C>T	CA431539824	SP110	c.927G>A (p.Lys309=) c.1536G>A (p.Lys512=) c.1386G>A (p.Lys462=) n.258G>A n.2352G>A c.1554G>A (p.Lys518=) c.1530G>A (p.Lys510=) n.190G>A c.1404G>A (p.Lys468=)
2	g.230177593T>A	CA2154472	SP110	c.926A>T (p.Lys309Met) c.1535A>T (p.Lys512Met) c.1385A>T (p.Lys462Met) n.257A>T n.2351A>T c.1553A>T (p.Lys518Met) c.1529A>T (p.Lys510Met) n.189A>T c.1403A>T (p.Lys468Met)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.230177593T>C	CA350903197	SP110	c.926A>G (p.Lys309Arg) c.1535A>G (p.Lys512Arg) c.1385A>G (p.Lys462Arg) n.257A>G n.2351A>G c.1553A>G (p.Lys518Arg) c.1529A>G (p.Lys510Arg) n.189A>G c.1403A>G (p.Lys468Arg)
2	g.230177593T>G	CA350903196	SP110	c.926A>C (p.Lys309Thr) c.1535A>C (p.Lys512Thr) c.1385A>C (p.Lys462Thr) n.257A>C n.2351A>C c.1553A>C (p.Lys518Thr) c.1529A>C (p.Lys510Thr) n.189A>C c.1403A>C (p.Lys468Thr)
2	g.230177593T=	CA1334207179	SP110	c.926A= (p.Lys309=) c.1535A= (p.Lys512=) c.1385A= (p.Lys462=) n.257A= n.2351A= c.1553A= (p.Lys518=) c.1529A= (p.Lys510=) n.189A= c.1403A= (p.Lys468=)
2	g.230177594T>A	CA350903198	SP110	c.925A>T (p.Lys309Ter) c.1534A>T (p.Lys512Ter) c.1384A>T (p.Lys462Ter) n.256A>T n.2350A>T c.1552A>T (p.Lys518Ter) c.1528A>T (p.Lys510Ter) n.188A>T c.1402A>T (p.Lys468Ter)
2	g.230177594T>C	CA350903199	SP110	c.925A>G (p.Lys309Glu) c.1534A>G (p.Lys512Glu) c.1384A>G (p.Lys462Glu) n.256A>G n.2350A>G c.1552A>G (p.Lys518Glu) c.1528A>G (p.Lys510Glu) n.188A>G c.1402A>G (p.Lys468Glu)
2	g.230177594T>G	CA350903200	SP110	c.925A>C (p.Lys309Gln) c.1534A>C (p.Lys512Gln) c.1384A>C (p.Lys462Gln) n.256A>C n.2350A>C c.1552A>C (p.Lys518Gln) c.1528A>C (p.Lys510Gln) n.188A>C c.1402A>C (p.Lys468Gln)
2	g.230177595T>A	CA431539827	SP110	c.924A>T (p.Ala308=) c.1533A>T (p.Ala511=) c.1383A>T (p.Ala461=) n.255A>T n.2349A>T c.1551A>T (p.Ala517=) c.1527A>T (p.Ala509=) n.187A>T c.1401A>T (p.Ala467=)
2	g.230177595T>C	CA431539828	SP110	c.924A>G (p.Ala308=) c.1533A>G (p.Ala511=) c.1383A>G (p.Ala461=) n.255A>G n.2349A>G c.1551A>G (p.Ala517=) c.1527A>G (p.Ala509=) n.187A>G c.1401A>G (p.Ala467=)	ClinVar dbSNP
2	g.230177595T>G	CA431539829	SP110	c.924A>C (p.Ala308=) c.1533A>C (p.Ala511=) c.1383A>C (p.Ala461=) n.255A>C n.2349A>C c.1551A>C (p.Ala517=) c.1527A>C (p.Ala509=) n.187A>C c.1401A>C (p.Ala467=)
2	g.230177596G>A	CA350903201	SP110	c.923C>T (p.Ala308Val) c.1532C>T (p.Ala511Val) c.1382C>T (p.Ala461Val) n.254C>T n.2348C>T c.1550C>T (p.Ala517Val) c.1526C>T (p.Ala509Val) n.186C>T c.1400C>T (p.Ala467Val)
2	g.230177596G>C	CA350903202	SP110	c.923C>G (p.Ala308Gly) c.1532C>G (p.Ala511Gly) c.1382C>G (p.Ala461Gly) n.254C>G n.2348C>G c.1550C>G (p.Ala517Gly) c.1526C>G (p.Ala509Gly) n.186C>G c.1400C>G (p.Ala467Gly)
2	g.230177596G>T	CA350903203	SP110	c.923C>A (p.Ala308Glu) c.1532C>A (p.Ala511Glu) c.1382C>A (p.Ala461Glu) n.254C>A n.2348C>A c.1550C>A (p.Ala517Glu) c.1526C>A (p.Ala509Glu) n.186C>A c.1400C>A (p.Ala467Glu)
2	g.230177597del	CA2663486803	SP110	c.922del (p.Ala308GlnfsTer13) c.1531del (p.Ala511GlnfsTer13) c.1381del (p.Ala461GlnfsTer13) n.253del n.2347del c.1549del (p.Ala517GlnfsTer13) c.1525del (p.Ala509GlnfsTer13) n.185del c.1399del (p.Ala467GlnfsTer13)	gnomAD v4
2	g.230177597C>A	CA350903204	SP110	c.922G>T (p.Ala308Ser) c.1531G>T (p.Ala511Ser) c.1381G>T (p.Ala461Ser) n.253G>T n.2347G>T c.1549G>T (p.Ala517Ser) c.1525G>T (p.Ala509Ser) n.185G>T c.1399G>T (p.Ala467Ser)	COSMIC COSMIC
2	g.230177597C=	CA1334207180	SP110	c.922G= (p.Ala308=) c.1531G= (p.Ala511=) c.1381G= (p.Ala461=) n.253G= n.2347G= c.1549G= (p.Ala517=) c.1525G= (p.Ala509=) n.185G= c.1399G= (p.Ala467=)
2	g.230177597C>G	CA350903205	SP110	c.922G>C (p.Ala308Pro) c.1531G>C (p.Ala511Pro) c.1381G>C (p.Ala461Pro) n.253G>C n.2347G>C c.1549G>C (p.Ala517Pro) c.1525G>C (p.Ala509Pro) n.185G>C c.1399G>C (p.Ala467Pro)
2	g.230177597C>T	CA2154473	SP110	c.922G>A (p.Ala308Thr) c.1531G>A (p.Ala511Thr) c.1381G>A (p.Ala461Thr) n.253G>A n.2347G>A c.1549G>A (p.Ala517Thr) c.1525G>A (p.Ala509Thr) n.185G>A c.1399G>A (p.Ala467Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2	g.230177598G>A	CA2154474	SP110	c.921C>T (p.Asn307=) c.1530C>T (p.Asn510=) c.1380C>T (p.Asn460=) n.252C>T n.2346C>T c.1548C>T (p.Asn516=) c.1524C>T (p.Asn508=) n.184C>T c.1398C>T (p.Asn466=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2	g.230177598G>C	CA350903206	SP110	c.921C>G (p.Asn307Lys) c.1530C>G (p.Asn510Lys) c.1380C>G (p.Asn460Lys) n.252C>G n.2346C>G c.1548C>G (p.Asn516Lys) c.1524C>G (p.Asn508Lys) n.184C>G c.1398C>G (p.Asn466Lys)
2	g.230177598G=	CA1334207181	SP110	c.921C= (p.Asn307=) c.1530C= (p.Asn510=) c.1380C= (p.Asn460=) n.252C= n.2346C= c.1548C= (p.Asn516=) c.1524C= (p.Asn508=) n.184C= c.1398C= (p.Asn466=)
2	g.230177598G>T	CA350903207	SP110	c.921C>A (p.Asn307Lys) c.1530C>A (p.Asn510Lys) c.1380C>A (p.Asn460Lys) n.252C>A n.2346C>A c.1548C>A (p.Asn516Lys) c.1524C>A (p.Asn508Lys) n.184C>A c.1398C>A (p.Asn466Lys)
2	g.230177599T>A	CA350903209	SP110	c.920A>T (p.Asn307Ile) c.1529A>T (p.Asn510Ile) c.1379A>T (p.Asn460Ile) n.251A>T n.2345A>T c.1547A>T (p.Asn516Ile) c.1523A>T (p.Asn508Ile) n.183A>T c.1397A>T (p.Asn466Ile)
2	g.230177599T>C	CA350903210	SP110	c.920A>G (p.Asn307Ser) c.1529A>G (p.Asn510Ser) c.1379A>G (p.Asn460Ser) n.251A>G n.2345A>G c.1547A>G (p.Asn516Ser) c.1523A>G (p.Asn508Ser) n.183A>G c.1397A>G (p.Asn466Ser)	ClinVar
2	g.230177599T>G	CA350903208	SP110	c.920A>C (p.Asn307Thr) c.1529A>C (p.Asn510Thr) c.1379A>C (p.Asn460Thr) n.251A>C n.2345A>C c.1547A>C (p.Asn516Thr) c.1523A>C (p.Asn508Thr) n.183A>C c.1397A>C (p.Asn466Thr)
2	g.230177600T>A	CA350903211	SP110	c.919A>T (p.Asn307Tyr) c.1528A>T (p.Asn510Tyr) c.1378A>T (p.Asn460Tyr) n.250A>T n.2344A>T c.1546A>T (p.Asn516Tyr) c.1522A>T (p.Asn508Tyr) n.182A>T c.1396A>T (p.Asn466Tyr)
2	g.230177600T>C	CA350903212	SP110	c.919A>G (p.Asn307Asp) c.1528A>G (p.Asn510Asp) c.1378A>G (p.Asn460Asp) n.250A>G n.2344A>G c.1546A>G (p.Asn516Asp) c.1522A>G (p.Asn508Asp) n.182A>G c.1396A>G (p.Asn466Asp)	COSMIC COSMIC
2	g.230177600T>G	CA350903213	SP110	c.919A>C (p.Asn307His) c.1528A>C (p.Asn510His) c.1378A>C (p.Asn460His) n.250A>C n.2344A>C c.1546A>C (p.Asn516His) c.1522A>C (p.Asn508His) n.182A>C c.1396A>C (p.Asn466His)
2	g.230177601C>A	CA350903214	SP110	c.918G>T (p.Arg306Ser) c.1527G>T (p.Arg509Ser) c.1377G>T (p.Arg459Ser) n.249G>T n.2343G>T c.1545G>T (p.Arg515Ser) c.1521G>T (p.Arg507Ser) n.181G>T c.1395G>T (p.Arg465Ser)
2	g.230177601C>G	CA350903215	SP110	c.918G>C (p.Arg306Ser) c.1527G>C (p.Arg509Ser) c.1377G>C (p.Arg459Ser) n.249G>C n.2343G>C c.1545G>C (p.Arg515Ser) c.1521G>C (p.Arg507Ser) n.181G>C c.1395G>C (p.Arg465Ser)
2	g.230177601C>T	CA431539834	SP110	c.918G>A (p.Arg306=) c.1527G>A (p.Arg509=) c.1377G>A (p.Arg459=) n.249G>A n.2343G>A c.1545G>A (p.Arg515=) c.1521G>A (p.Arg507=) n.181G>A c.1395G>A (p.Arg465=)	dbSNP
2	g.230177602C>A	CA350903218	SP110	c.917G>T (p.Arg306Met) c.1526G>T (p.Arg509Met) c.1376G>T (p.Arg459Met) n.248G>T n.2342G>T c.1544G>T (p.Arg515Met) c.1520G>T (p.Arg507Met) n.180G>T c.1394G>T (p.Arg465Met)	COSMIC COSMIC
2	g.230177602C>G	CA350903216	SP110	c.917G>C (p.Arg306Thr) c.1526G>C (p.Arg509Thr) c.1376G>C (p.Arg459Thr) n.248G>C n.2342G>C c.1544G>C (p.Arg515Thr) c.1520G>C (p.Arg507Thr) n.180G>C c.1394G>C (p.Arg465Thr)
2	g.230177602C>T	CA350903217	SP110	c.917G>A (p.Arg306Lys) c.1526G>A (p.Arg509Lys) c.1376G>A (p.Arg459Lys) n.248G>A n.2342G>A c.1544G>A (p.Arg515Lys) c.1520G>A (p.Arg507Lys) n.180G>A c.1394G>A (p.Arg465Lys)	gnomAD v4
2	g.230177603T>A	CA350903219	SP110	c.916A>T (p.Arg306Trp) c.1525A>T (p.Arg509Trp) c.1375A>T (p.Arg459Trp) n.247A>T n.2341A>T c.1543A>T (p.Arg515Trp) c.1519A>T (p.Arg507Trp) n.179A>T c.1393A>T (p.Arg465Trp)
2	g.230177603T>C	CA350903220	SP110	c.916A>G (p.Arg306Gly) c.1525A>G (p.Arg509Gly) c.1375A>G (p.Arg459Gly) n.247A>G n.2341A>G c.1543A>G (p.Arg515Gly) c.1519A>G (p.Arg507Gly) n.179A>G c.1393A>G (p.Arg465Gly)
2	g.230177603T>G	CA2154475	SP110	c.916A>C (p.Arg306=) c.1525A>C (p.Arg509=) c.1375A>C (p.Arg459=) n.247A>C n.2341A>C c.1543A>C (p.Arg515=) c.1519A>C (p.Arg507=) n.179A>C c.1393A>C (p.Arg465=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.230177603T=	CA1334207182	SP110	c.916A= (p.Arg306=) c.1525A= (p.Arg509=) c.1375A= (p.Arg459=) n.247A= n.2341A= c.1543A= (p.Arg515=) c.1519A= (p.Arg507=) n.179A= c.1393A= (p.Arg465=)
2	g.230177609_230177614del	CA2577269641	SP110	c.911_916del (p.Lys304_Gly305del) c.1520_1525del (p.Lys507_Gly508del) c.1370_1375del (p.Lys457_Gly458del) n.242_247del n.2336_2341del c.1538_1543del (p.Lys513_Gly514del) c.1514_1519del (p.Lys505_Gly506del) n.174_179del c.1388_1393del (p.Lys463_Gly464del)	ClinVar gnomAD v4
2	g.230177604T>A	CA431539835	SP110	c.915A>T (p.Gly305=) c.1524A>T (p.Gly508=) c.1374A>T (p.Gly458=) n.246A>T n.2340A>T c.1542A>T (p.Gly514=) c.1518A>T (p.Gly506=) n.178A>T c.1392A>T (p.Gly464=)
2	g.230177604T>C	CA431539837	SP110	c.915A>G (p.Gly305=) c.1524A>G (p.Gly508=) c.1374A>G (p.Gly458=) n.246A>G n.2340A>G c.1542A>G (p.Gly514=) c.1518A>G (p.Gly506=) n.178A>G c.1392A>G (p.Gly464=)
2	g.230177604T>G	CA431539839	SP110	c.915A>C (p.Gly305=) c.1524A>C (p.Gly508=) c.1374A>C (p.Gly458=) n.246A>C n.2340A>C c.1542A>C (p.Gly514=) c.1518A>C (p.Gly506=) n.178A>C c.1392A>C (p.Gly464=)
2	g.230177605C>A	CA350903221	SP110	c.914G>T (p.Gly305Val) c.1523G>T (p.Gly508Val) c.1373G>T (p.Gly458Val) n.245G>T n.2339G>T c.1541G>T (p.Gly514Val) c.1517G>T (p.Gly506Val) n.177G>T c.1391G>T (p.Gly464Val)	dbSNP
2	g.230177605C=	CA1334207183	SP110	c.914G= (p.Gly305=) c.1523G= (p.Gly508=) c.1373G= (p.Gly458=) n.245G= n.2339G= c.1541G= (p.Gly514=) c.1517G= (p.Gly506=) n.177G= c.1391G= (p.Gly464=)
2	g.230177605C>G	CA350903222	SP110	c.914G>C (p.Gly305Ala) c.1523G>C (p.Gly508Ala) c.1373G>C (p.Gly458Ala) n.245G>C n.2339G>C c.1541G>C (p.Gly514Ala) c.1517G>C (p.Gly506Ala) n.177G>C c.1391G>C (p.Gly464Ala)
2	g.230177605C>T	CA350903223	SP110	c.914G>A (p.Gly305Glu) c.1523G>A (p.Gly508Glu) c.1373G>A (p.Gly458Glu) n.245G>A n.2339G>A c.1541G>A (p.Gly514Glu) c.1517G>A (p.Gly506Glu) n.177G>A c.1391G>A (p.Gly464Glu)
2	g.230177605_230177617delinsCCTTTTCCTTCGA	CA1334207184	SP110	c.902_914delinsTCGAAGGAAAAGG (p.Val301=) c.1511_1523delinsTCGAAGGAAAAGG (p.Val504=) c.1361_1373delinsTCGAAGGAAAAGG (p.Val454=) n.233_245delinsTCGAAGGAAAAGG n.2327_2339delinsTCGAAGGAAAAGG c.1529_1541delinsTCGAAGGAAAAGG (p.Val510=) c.1505_1517delinsTCGAAGGAAAAGG (p.Val502=) n.165_177delinsTCGAAGGAAAAGG c.1379_1391delinsTCGAAGGAAAAGG (p.Val460=)
2	g.230177606C>A	CA350903225	SP110	c.913G>T (p.Gly305Ter) c.1522G>T (p.Gly508Ter) c.1372G>T (p.Gly458Ter) n.244G>T n.2338G>T c.1540G>T (p.Gly514Ter) c.1516G>T (p.Gly506Ter) n.176G>T c.1390G>T (p.Gly464Ter)
2	g.230177606C>G	CA350903226	SP110	c.913G>C (p.Gly305Arg) c.1522G>C (p.Gly508Arg) c.1372G>C (p.Gly458Arg) n.244G>C n.2338G>C c.1540G>C (p.Gly514Arg) c.1516G>C (p.Gly506Arg) n.176G>C c.1390G>C (p.Gly464Arg)
2	g.230177606C>T	CA350903224	SP110	c.913G>A (p.Gly305Arg) c.1522G>A (p.Gly508Arg) c.1372G>A (p.Gly458Arg) n.244G>A n.2338G>A c.1540G>A (p.Gly514Arg) c.1516G>A (p.Gly506Arg) n.176G>A c.1390G>A (p.Gly464Arg)
2	g.230177609_230177620del	CA1334207185	SP110	c.902_913del (p.Val301_Lys304del) c.1511_1522del (p.Val504_Lys507del) c.1361_1372del (p.Val454_Lys457del) n.233_244del n.2327_2338del c.1529_1540del (p.Val510_Lys513del) c.1505_1516del (p.Val502_Lys505del) n.165_176del c.1379_1390del (p.Val460_Lys463del)	dbSNP
2	g.230177607T>A	CA2154476	SP110	c.912A>T (p.Lys304Asn) c.1521A>T (p.Lys507Asn) c.1371A>T (p.Lys457Asn) n.243A>T n.2337A>T c.1539A>T (p.Lys513Asn) c.1515A>T (p.Lys505Asn) n.175A>T c.1389A>T (p.Lys463Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.230177607T>C	CA431539841	SP110	c.912A>G (p.Lys304=) c.1521A>G (p.Lys507=) c.1371A>G (p.Lys457=) n.243A>G n.2337A>G c.1539A>G (p.Lys513=) c.1515A>G (p.Lys505=) n.175A>G c.1389A>G (p.Lys463=)	COSMIC
2	g.230177607T>G	CA350903227	SP110	c.912A>C (p.Lys304Asn) c.1521A>C (p.Lys507Asn) c.1371A>C (p.Lys457Asn) n.243A>C n.2337A>C c.1539A>C (p.Lys513Asn) c.1515A>C (p.Lys505Asn) n.175A>C c.1389A>C (p.Lys463Asn)
2	g.230177607T=	CA1334207186	SP110	c.912A= (p.Lys304=) c.1521A= (p.Lys507=) c.1371A= (p.Lys457=) n.243A= n.2337A= c.1539A= (p.Lys513=) c.1515A= (p.Lys505=) n.175A= c.1389A= (p.Lys463=)
2	g.230177608T>A	CA350903228	SP110	c.911A>T (p.Lys304Ile) c.1520A>T (p.Lys507Ile) c.1370A>T (p.Lys457Ile) n.242A>T n.2336A>T c.1538A>T (p.Lys513Ile) c.1514A>T (p.Lys505Ile) n.174A>T c.1388A>T (p.Lys463Ile)
2	g.230177608T>C	CA350903230	SP110	c.911A>G (p.Lys304Arg) c.1520A>G (p.Lys507Arg) c.1370A>G (p.Lys457Arg) n.242A>G n.2336A>G c.1538A>G (p.Lys513Arg) c.1514A>G (p.Lys505Arg) n.174A>G c.1388A>G (p.Lys463Arg)
2	g.230177608T>G	CA350903229	SP110	c.911A>C (p.Lys304Thr) c.1520A>C (p.Lys507Thr) c.1370A>C (p.Lys457Thr) n.242A>C n.2336A>C c.1538A>C (p.Lys513Thr) c.1514A>C (p.Lys505Thr) n.174A>C c.1388A>C (p.Lys463Thr)
2	g.230177609T>A	CA350903231	SP110	c.910A>T (p.Lys304Ter) c.1519A>T (p.Lys507Ter) c.1369A>T (p.Lys457Ter) n.241A>T n.2335A>T c.1537A>T (p.Lys513Ter) c.1513A>T (p.Lys505Ter) n.173A>T c.1387A>T (p.Lys463Ter)
2	g.230177609T>C	CA2154477	SP110	c.910A>G (p.Lys304Glu) c.1519A>G (p.Lys507Glu) c.1369A>G (p.Lys457Glu) n.241A>G n.2335A>G c.1537A>G (p.Lys513Glu) c.1513A>G (p.Lys505Glu) n.173A>G c.1387A>G (p.Lys463Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.230177609T>G	CA350903232	SP110	c.910A>C (p.Lys304Gln) c.1519A>C (p.Lys507Gln) c.1369A>C (p.Lys457Gln) n.241A>C n.2335A>C c.1537A>C (p.Lys513Gln) c.1513A>C (p.Lys505Gln) n.173A>C c.1387A>C (p.Lys463Gln)
2	g.230177609T=	CA1334207187	SP110	c.910A= (p.Lys304=) c.1519A= (p.Lys507=) c.1369A= (p.Lys457=) n.241A= n.2335A= c.1537A= (p.Lys513=) c.1513A= (p.Lys505=) n.173A= c.1387A= (p.Lys463=)
2	g.230177610T>A	CA431539846	SP110	c.909A>T (p.Gly303=) c.1518A>T (p.Gly506=) c.1368A>T (p.Gly456=) n.240A>T n.2334A>T c.1536A>T (p.Gly512=) c.1512A>T (p.Gly504=) n.172A>T c.1386A>T (p.Gly462=)
2	g.230177610T>C	CA431539844	SP110	c.909A>G (p.Gly303=) c.1518A>G (p.Gly506=) c.1368A>G (p.Gly456=) n.240A>G n.2334A>G c.1536A>G (p.Gly512=) c.1512A>G (p.Gly504=) n.172A>G c.1386A>G (p.Gly462=)	dbSNP gnomAD v2 gnomAD v4
2	g.230177610T>G	CA431539845	SP110	c.909A>C (p.Gly303=) c.1518A>C (p.Gly506=) c.1368A>C (p.Gly456=) n.240A>C n.2334A>C c.1536A>C (p.Gly512=) c.1512A>C (p.Gly504=) n.172A>C c.1386A>C (p.Gly462=)
2	g.230177610T=	CA1334207188	SP110	c.909A= (p.Gly303=) c.1518A= (p.Gly506=) c.1368A= (p.Gly456=) n.240A= n.2334A= c.1536A= (p.Gly512=) c.1512A= (p.Gly504=) n.172A= c.1386A= (p.Gly462=)
2	g.230177611C>A	CA350903233	SP110	c.908G>T (p.Gly303Val) c.1517G>T (p.Gly506Val) c.1367G>T (p.Gly456Val) n.239G>T n.2333G>T c.1535G>T (p.Gly512Val) c.1511G>T (p.Gly504Val) n.171G>T c.1385G>T (p.Gly462Val)
2	g.230177611C>G	CA350903235	SP110	c.908G>C (p.Gly303Ala) c.1517G>C (p.Gly506Ala) c.1367G>C (p.Gly456Ala) n.239G>C n.2333G>C c.1535G>C (p.Gly512Ala) c.1511G>C (p.Gly504Ala) n.171G>C c.1385G>C (p.Gly462Ala)
2	g.230177611C>T	CA350903234	SP110	c.908G>A (p.Gly303Glu) c.1517G>A (p.Gly506Glu) c.1367G>A (p.Gly456Glu) n.239G>A n.2333G>A c.1535G>A (p.Gly512Glu) c.1511G>A (p.Gly504Glu) n.171G>A c.1385G>A (p.Gly462Glu)
2	g.230177612C>A	CA350903236	SP110	c.907G>T (p.Gly303Ter) c.1516G>T (p.Gly506Ter) c.1366G>T (p.Gly456Ter) n.238G>T n.2332G>T c.1534G>T (p.Gly512Ter) c.1510G>T (p.Gly504Ter) n.170G>T c.1384G>T (p.Gly462Ter)
2	g.230177612C>G	CA350903237	SP110	c.907G>C (p.Gly303Arg) c.1516G>C (p.Gly506Arg) c.1366G>C (p.Gly456Arg) n.238G>C n.2332G>C c.1534G>C (p.Gly512Arg) c.1510G>C (p.Gly504Arg) n.170G>C c.1384G>C (p.Gly462Arg)
2	g.230177612C>T	CA350903238	SP110	c.907G>A (p.Gly303Arg) c.1516G>A (p.Gly506Arg) c.1366G>A (p.Gly456Arg) n.238G>A n.2332G>A c.1534G>A (p.Gly512Arg) c.1510G>A (p.Gly504Arg) n.170G>A c.1384G>A (p.Gly462Arg)
2	g.230177613T>A	CA350903239	SP110	c.906A>T (p.Glu302Asp) c.1515A>T (p.Glu505Asp) c.1365A>T (p.Glu455Asp) n.237A>T n.2331A>T c.1533A>T (p.Glu511Asp) c.1509A>T (p.Glu503Asp) n.169A>T c.1383A>T (p.Glu461Asp)
2	g.230177613T>C	CA431539847	SP110	c.906A>G (p.Glu302=) c.1515A>G (p.Glu505=) c.1365A>G (p.Glu455=) n.237A>G n.2331A>G c.1533A>G (p.Glu511=) c.1509A>G (p.Glu503=) n.169A>G c.1383A>G (p.Glu461=)
2	g.230177613T>G	CA350903240	SP110	c.906A>C (p.Glu302Asp) c.1515A>C (p.Glu505Asp) c.1365A>C (p.Glu455Asp) n.237A>C n.2331A>C c.1533A>C (p.Glu511Asp) c.1509A>C (p.Glu503Asp) n.169A>C c.1383A>C (p.Glu461Asp)
2	g.230177614T>A	CA350903241	SP110	c.905A>T (p.Glu302Val) c.1514A>T (p.Glu505Val) c.1364A>T (p.Glu455Val) n.236A>T n.2330A>T c.1532A>T (p.Glu511Val) c.1508A>T (p.Glu503Val) n.168A>T c.1382A>T (p.Glu461Val)
2	g.230177614T>C	CA350903242	SP110	c.905A>G (p.Glu302Gly) c.1514A>G (p.Glu505Gly) c.1364A>G (p.Glu455Gly) n.236A>G n.2330A>G c.1532A>G (p.Glu511Gly) c.1508A>G (p.Glu503Gly) n.168A>G c.1382A>G (p.Glu461Gly)
2	g.230177614T>G	CA350903243	SP110	c.905A>C (p.Glu302Ala) c.1514A>C (p.Glu505Ala) c.1364A>C (p.Glu455Ala) n.236A>C n.2330A>C c.1532A>C (p.Glu511Ala) c.1508A>C (p.Glu503Ala) n.168A>C c.1382A>C (p.Glu461Ala)
2	g.230177615C>A	CA350903244	SP110	c.904G>T (p.Glu302Ter) c.1513G>T (p.Glu505Ter) c.1363G>T (p.Glu455Ter) n.235G>T n.2329G>T c.1531G>T (p.Glu511Ter) c.1507G>T (p.Glu503Ter) n.167G>T c.1381G>T (p.Glu461Ter)
2	g.230177615C=	CA1334207189	SP110	c.904G= (p.Glu302=) c.1513G= (p.Glu505=) c.1363G= (p.Glu455=) n.235G= n.2329G= c.1531G= (p.Glu511=) c.1507G= (p.Glu503=) n.167G= c.1381G= (p.Glu461=)
2	g.230177615C>G	CA350903245	SP110	c.904G>C (p.Glu302Gln) c.1513G>C (p.Glu505Gln) c.1363G>C (p.Glu455Gln) n.235G>C n.2329G>C c.1531G>C (p.Glu511Gln) c.1507G>C (p.Glu503Gln) n.167G>C c.1381G>C (p.Glu461Gln)
2	g.230177615C>T	CA66735159	SP110	c.904G>A (p.Glu302Lys) c.1513G>A (p.Glu505Lys) c.1363G>A (p.Glu455Lys) n.235G>A n.2329G>A c.1531G>A (p.Glu511Lys) c.1507G>A (p.Glu503Lys) n.167G>A c.1381G>A (p.Glu461Lys)	dbSNP gnomAD v4
2	g.230177616G>A	CA2154478	SP110	c.903C>T (p.Val301=) c.1512C>T (p.Val504=) c.1362C>T (p.Val454=) n.234C>T n.2328C>T c.1530C>T (p.Val510=) c.1506C>T (p.Val502=) n.166C>T c.1380C>T (p.Val460=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2	g.230177616G>C	CA431539848	SP110	c.903C>G (p.Val301=) c.1512C>G (p.Val504=) c.1362C>G (p.Val454=) n.234C>G n.2328C>G c.1530C>G (p.Val510=) c.1506C>G (p.Val502=) n.166C>G c.1380C>G (p.Val460=)
2	g.230177616G=	CA1334207190	SP110	c.903C= (p.Val301=) c.1512C= (p.Val504=) c.1362C= (p.Val454=) n.234C= n.2328C= c.1530C= (p.Val510=) c.1506C= (p.Val502=) n.166C= c.1380C= (p.Val460=)
2	g.230177616G>T	CA431539849	SP110	c.903C>A (p.Val301=) c.1512C>A (p.Val504=) c.1362C>A (p.Val454=) n.234C>A n.2328C>A c.1530C>A (p.Val510=) c.1506C>A (p.Val502=) n.166C>A c.1380C>A (p.Val460=)
2	g.230177617A>C	CA350903248	SP110	c.902T>G (p.Val301Gly) c.1511T>G (p.Val504Gly) c.1361T>G (p.Val454Gly) n.233T>G n.2327T>G c.1529T>G (p.Val510Gly) c.1505T>G (p.Val502Gly) n.165T>G c.1379T>G (p.Val460Gly)
2	g.230177617A>G	CA350903246	SP110	c.902T>C (p.Val301Ala) c.1511T>C (p.Val504Ala) c.1361T>C (p.Val454Ala) n.233T>C n.2327T>C c.1529T>C (p.Val510Ala) c.1505T>C (p.Val502Ala) n.165T>C c.1379T>C (p.Val460Ala)
2	g.230177617A>T	CA350903247	SP110	c.902T>A (p.Val301Asp) c.1511T>A (p.Val504Asp) c.1361T>A (p.Val454Asp) n.233T>A n.2327T>A c.1529T>A (p.Val510Asp) c.1505T>A (p.Val502Asp) n.165T>A c.1379T>A (p.Val460Asp)
2	g.230177618C>A	CA350903249	SP110	c.901G>T (p.Val301Phe) c.1510G>T (p.Val504Phe) c.1360G>T (p.Val454Phe) n.232G>T n.2326G>T c.1528G>T (p.Val510Phe) c.1504G>T (p.Val502Phe) n.164G>T c.1378G>T (p.Val460Phe)
2	g.230177618C>G	CA350903250	SP110	c.901G>C (p.Val301Leu) c.1510G>C (p.Val504Leu) c.1360G>C (p.Val454Leu) n.232G>C n.2326G>C c.1528G>C (p.Val510Leu) c.1504G>C (p.Val502Leu) n.164G>C c.1378G>C (p.Val460Leu)
2	g.230177618C>T	CA350903251	SP110	c.901G>A (p.Val301Ile) c.1510G>A (p.Val504Ile) c.1360G>A (p.Val454Ile) n.232G>A n.2326G>A c.1528G>A (p.Val510Ile) c.1504G>A (p.Val502Ile) n.164G>A c.1378G>A (p.Val460Ile)
2	g.230177619T>A	CA350903252	SP110	c.900A>T (p.Glu300Asp) c.1509A>T (p.Glu503Asp) c.1359A>T (p.Glu453Asp) n.231A>T n.2325A>T c.1527A>T (p.Glu509Asp) c.1503A>T (p.Glu501Asp) n.163A>T c.1377A>T (p.Glu459Asp)	gnomAD v4
2	g.230177619T>C	CA431539850	SP110	c.900A>G (p.Glu300=) c.1509A>G (p.Glu503=) c.1359A>G (p.Glu453=) n.231A>G n.2325A>G c.1527A>G (p.Glu509=) c.1503A>G (p.Glu501=) n.163A>G c.1377A>G (p.Glu459=)
2	g.230177619T>G	CA350903253	SP110	c.900A>C (p.Glu300Asp) c.1509A>C (p.Glu503Asp) c.1359A>C (p.Glu453Asp) n.231A>C n.2325A>C c.1527A>C (p.Glu509Asp) c.1503A>C (p.Glu501Asp) n.163A>C c.1377A>C (p.Glu459Asp)
2	g.230177620T>A	CA350903254	SP110	c.899A>T (p.Glu300Val) c.1508A>T (p.Glu503Val) c.1358A>T (p.Glu453Val) n.230A>T n.2324A>T c.1526A>T (p.Glu509Val) c.1502A>T (p.Glu501Val) n.162A>T c.1376A>T (p.Glu459Val)
2	g.230177620T>C	CA350903255	SP110	c.899A>G (p.Glu300Gly) c.1508A>G (p.Glu503Gly) c.1358A>G (p.Glu453Gly) n.230A>G n.2324A>G c.1526A>G (p.Glu509Gly) c.1502A>G (p.Glu501Gly) n.162A>G c.1376A>G (p.Glu459Gly)	gnomAD v4
2	g.230177620T>G	CA350903256	SP110	c.899A>C (p.Glu300Ala) c.1508A>C (p.Glu503Ala) c.1358A>C (p.Glu453Ala) n.230A>C n.2324A>C c.1526A>C (p.Glu509Ala) c.1502A>C (p.Glu501Ala) n.162A>C c.1376A>C (p.Glu459Ala)
2	g.230177621C>A	CA350903257	SP110	c.898G>T (p.Glu300Ter) c.1507G>T (p.Glu503Ter) c.1357G>T (p.Glu453Ter) n.229G>T n.2323G>T c.1525G>T (p.Glu509Ter) c.1501G>T (p.Glu501Ter) n.161G>T c.1375G>T (p.Glu459Ter)
2	g.230177621C=	CA1334207191	SP110	c.898G= (p.Glu300=) c.1507G= (p.Glu503=) c.1357G= (p.Glu453=) n.229G= n.2323G= c.1525G= (p.Glu509=) c.1501G= (p.Glu501=) n.161G= c.1375G= (p.Glu459=)
2	g.230177621C>G	CA66735178	SP110	c.898G>C (p.Glu300Gln) c.1507G>C (p.Glu503Gln) c.1357G>C (p.Glu453Gln) n.229G>C n.2323G>C c.1525G>C (p.Glu509Gln) c.1501G>C (p.Glu501Gln) n.161G>C c.1375G>C (p.Glu459Gln)	dbSNP gnomAD v4
2	g.230177621C>T	CA350903258	SP110	c.898G>A (p.Glu300Lys) c.1507G>A (p.Glu503Lys) c.1357G>A (p.Glu453Lys) n.229G>A n.2323G>A c.1525G>A (p.Glu509Lys) c.1501G>A (p.Glu501Lys) n.161G>A c.1375G>A (p.Glu459Lys)
2	g.230177622A=	CA1334207192	SP110	c.897T= (p.Phe299=) c.1506T= (p.Phe502=) c.1356T= (p.Phe452=) n.228T= n.2322T= c.1524T= (p.Phe508=) c.1500T= (p.Phe500=) n.160T= c.1374T= (p.Phe458=)
2	g.230177622A>C	CA350903259	SP110	c.897T>G (p.Phe299Leu) c.1506T>G (p.Phe502Leu) c.1356T>G (p.Phe452Leu) n.228T>G n.2322T>G c.1524T>G (p.Phe508Leu) c.1500T>G (p.Phe500Leu) n.160T>G c.1374T>G (p.Phe458Leu)	dbSNP gnomAD v4
2	g.230177622A>G	CA431539851	SP110	c.897T>C (p.Phe299=) c.1506T>C (p.Phe502=) c.1356T>C (p.Phe452=) n.228T>C n.2322T>C c.1524T>C (p.Phe508=) c.1500T>C (p.Phe500=) n.160T>C c.1374T>C (p.Phe458=)
2	g.230177622A>T	CA350903260	SP110	c.897T>A (p.Phe299Leu) c.1506T>A (p.Phe502Leu) c.1356T>A (p.Phe452Leu) n.228T>A n.2322T>A c.1524T>A (p.Phe508Leu) c.1500T>A (p.Phe500Leu) n.160T>A c.1374T>A (p.Phe458Leu)
2	g.230177623A=	CA1334207193	SP110	c.896T= (p.Phe299=) c.1505T= (p.Phe502=) c.1355T= (p.Phe452=) n.227T= n.2321T= c.1523T= (p.Phe508=) c.1499T= (p.Phe500=) n.159T= c.1373T= (p.Phe458=)
2	g.230177623A>C	CA66735187	SP110	c.896T>G (p.Phe299Cys) c.1505T>G (p.Phe502Cys) c.1355T>G (p.Phe452Cys) n.227T>G n.2321T>G c.1523T>G (p.Phe508Cys) c.1499T>G (p.Phe500Cys) n.159T>G c.1373T>G (p.Phe458Cys)	dbSNP gnomAD v4
2	g.230177623A>G	CA350903261	SP110	c.896T>C (p.Phe299Ser) c.1505T>C (p.Phe502Ser) c.1355T>C (p.Phe452Ser) n.227T>C n.2321T>C c.1523T>C (p.Phe508Ser) c.1499T>C (p.Phe500Ser) n.159T>C c.1373T>C (p.Phe458Ser)	dbSNP gnomAD v3 gnomAD v4
2	g.230177623A>T	CA350903262	SP110	c.896T>A (p.Phe299Tyr) c.1505T>A (p.Phe502Tyr) c.1355T>A (p.Phe452Tyr) n.227T>A n.2321T>A c.1523T>A (p.Phe508Tyr) c.1499T>A (p.Phe500Tyr) n.159T>A c.1373T>A (p.Phe458Tyr)	gnomAD v4
2	g.230177624A=	CA1334207194	SP110	c.895T= (p.Phe299=) c.1504T= (p.Phe502=) c.1354T= (p.Phe452=) n.226T= n.2320T= c.1522T= (p.Phe508=) c.1498T= (p.Phe500=) n.158T= c.1372T= (p.Phe458=)
2	g.230177624A>C	CA350903263	SP110	c.895T>G (p.Phe299Val) c.1504T>G (p.Phe502Val) c.1354T>G (p.Phe452Val) n.226T>G n.2320T>G c.1522T>G (p.Phe508Val) c.1498T>G (p.Phe500Val) n.158T>G c.1372T>G (p.Phe458Val)	dbSNP gnomAD v3 gnomAD v4
2	g.230177624A>G	CA350903264	SP110	c.895T>C (p.Phe299Leu) c.1504T>C (p.Phe502Leu) c.1354T>C (p.Phe452Leu) n.226T>C n.2320T>C c.1522T>C (p.Phe508Leu) c.1498T>C (p.Phe500Leu) n.158T>C c.1372T>C (p.Phe458Leu)
2	g.230177624A>T	CA350903265	SP110	c.895T>A (p.Phe299Ile) c.1504T>A (p.Phe502Ile) c.1354T>A (p.Phe452Ile) n.226T>A n.2320T>A c.1522T>A (p.Phe508Ile) c.1498T>A (p.Phe500Ile) n.158T>A c.1372T>A (p.Phe458Ile)
2	g.230177625T>A	CA350903266	SP110	c.894A>T (p.Glu298Asp) c.1503A>T (p.Glu501Asp) c.1353A>T (p.Glu451Asp) n.225A>T n.2319A>T c.1521A>T (p.Glu507Asp) c.1497A>T (p.Glu499Asp) n.157A>T c.1371A>T (p.Glu457Asp)
2	g.230177625T>C	CA431539852	SP110	c.894A>G (p.Glu298=) c.1503A>G (p.Glu501=) c.1353A>G (p.Glu451=) n.225A>G n.2319A>G c.1521A>G (p.Glu507=) c.1497A>G (p.Glu499=) n.157A>G c.1371A>G (p.Glu457=)
2	g.230177625T>G	CA350903267	SP110	c.894A>C (p.Glu298Asp) c.1503A>C (p.Glu501Asp) c.1353A>C (p.Glu451Asp) n.225A>C n.2319A>C c.1521A>C (p.Glu507Asp) c.1497A>C (p.Glu499Asp) n.157A>C c.1371A>C (p.Glu457Asp)
2	g.230177626T>A	CA350903268	SP110	c.893A>T (p.Glu298Val) c.1502A>T (p.Glu501Val) c.1352A>T (p.Glu451Val) n.224A>T n.2318A>T c.1520A>T (p.Glu507Val) c.1496A>T (p.Glu499Val) n.156A>T c.1370A>T (p.Glu457Val)
2	g.230177626T>C	CA350903269	SP110	c.893A>G (p.Glu298Gly) c.1502A>G (p.Glu501Gly) c.1352A>G (p.Glu451Gly) n.224A>G n.2318A>G c.1520A>G (p.Glu507Gly) c.1496A>G (p.Glu499Gly) n.156A>G c.1370A>G (p.Glu457Gly)	ClinVar dbSNP gnomAD v4
2	g.230177626T>G	CA350903270	SP110	c.893A>C (p.Glu298Ala) c.1502A>C (p.Glu501Ala) c.1352A>C (p.Glu451Ala) n.224A>C n.2318A>C c.1520A>C (p.Glu507Ala) c.1496A>C (p.Glu499Ala) n.156A>C c.1370A>C (p.Glu457Ala)
2	g.230177626T=	CA1334207195	SP110	c.893A= (p.Glu298=) c.1502A= (p.Glu501=) c.1352A= (p.Glu451=) n.224A= n.2318A= c.1520A= (p.Glu507=) c.1496A= (p.Glu499=) n.156A= c.1370A= (p.Glu457=)
2	g.230177627C>A	CA350903271	SP110	c.892G>T (p.Glu298Ter) c.1501G>T (p.Glu501Ter) c.1351G>T (p.Glu451Ter) n.223G>T n.2317G>T c.1519G>T (p.Glu507Ter) c.1495G>T (p.Glu499Ter) n.155G>T c.1369G>T (p.Glu457Ter)
2	g.230177627C>G	CA350903272	SP110	c.892G>C (p.Glu298Gln) c.1501G>C (p.Glu501Gln) c.1351G>C (p.Glu451Gln) n.223G>C n.2317G>C c.1519G>C (p.Glu507Gln) c.1495G>C (p.Glu499Gln) n.155G>C c.1369G>C (p.Glu457Gln)
2	g.230177627C>T	CA350903273	SP110	c.892G>A (p.Glu298Lys) c.1501G>A (p.Glu501Lys) c.1351G>A (p.Glu451Lys) n.223G>A n.2317G>A c.1519G>A (p.Glu507Lys) c.1495G>A (p.Glu499Lys) n.155G>A c.1369G>A (p.Glu457Lys)
2	g.230177628A>C	CA350903274	SP110	c.891T>G (p.Asn297Lys) c.1500T>G (p.Asn500Lys) c.1350T>G (p.Asn450Lys) n.222T>G n.2316T>G c.1518T>G (p.Asn506Lys) c.1494T>G (p.Asn498Lys) n.154T>G c.1368T>G (p.Asn456Lys)
2	g.230177628A>G	CA431539854	SP110	c.891T>C (p.Asn297=) c.1500T>C (p.Asn500=) c.1350T>C (p.Asn450=) n.222T>C n.2316T>C c.1518T>C (p.Asn506=) c.1494T>C (p.Asn498=) n.154T>C c.1368T>C (p.Asn456=)	dbSNP
2	g.230177628A>T	CA350903275	SP110	c.891T>A (p.Asn297Lys) c.1500T>A (p.Asn500Lys) c.1350T>A (p.Asn450Lys) n.222T>A n.2316T>A c.1518T>A (p.Asn506Lys) c.1494T>A (p.Asn498Lys) n.154T>A c.1368T>A (p.Asn456Lys)
2	g.230177629T>A	CA350903276	SP110	c.890A>T (p.Asn297Ile) c.1499A>T (p.Asn500Ile) c.1349A>T (p.Asn450Ile) n.221A>T n.2315A>T c.1517A>T (p.Asn506Ile) c.1493A>T (p.Asn498Ile) n.153A>T c.1367A>T (p.Asn456Ile)
2	g.230177629T>C	CA350903277	SP110	c.890A>G (p.Asn297Ser) c.1499A>G (p.Asn500Ser) c.1349A>G (p.Asn450Ser) n.221A>G n.2315A>G c.1517A>G (p.Asn506Ser) c.1493A>G (p.Asn498Ser) n.153A>G c.1367A>G (p.Asn456Ser)
2	g.230177629T>G	CA350903278	SP110	c.890A>C (p.Asn297Thr) c.1499A>C (p.Asn500Thr) c.1349A>C (p.Asn450Thr) n.221A>C n.2315A>C c.1517A>C (p.Asn506Thr) c.1493A>C (p.Asn498Thr) n.153A>C c.1367A>C (p.Asn456Thr)
2	g.230177630T>A	CA350903279	SP110	c.889A>T (p.Asn297Tyr) c.1498A>T (p.Asn500Tyr) c.1348A>T (p.Asn450Tyr) n.220A>T n.2314A>T c.1516A>T (p.Asn506Tyr) c.1492A>T (p.Asn498Tyr) n.152A>T c.1366A>T (p.Asn456Tyr)
2	g.230177630T>C	CA350903280	SP110	c.889A>G (p.Asn297Asp) c.1498A>G (p.Asn500Asp) c.1348A>G (p.Asn450Asp) n.220A>G n.2314A>G c.1516A>G (p.Asn506Asp) c.1492A>G (p.Asn498Asp) n.152A>G c.1366A>G (p.Asn456Asp)	dbSNP
2	g.230177630T>G	CA2154479	SP110	c.889A>C (p.Asn297His) c.1498A>C (p.Asn500His) c.1348A>C (p.Asn450His) n.220A>C n.2314A>C c.1516A>C (p.Asn506His) c.1492A>C (p.Asn498His) n.152A>C c.1366A>C (p.Asn456His)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.230177630T=	CA1334207196	SP110	c.889A= (p.Asn297=) c.1498A= (p.Asn500=) c.1348A= (p.Asn450=) n.220A= n.2314A= c.1516A= (p.Asn506=) c.1492A= (p.Asn498=) n.152A= c.1366A= (p.Asn456=)
2	g.230177631T>A	CA431539856	SP110	c.888A>T (p.Pro296=) c.1497A>T (p.Pro499=) c.1347A>T (p.Pro449=) n.219A>T n.2313A>T c.1515A>T (p.Pro505=) c.1491A>T (p.Pro497=) n.151A>T c.1365A>T (p.Pro455=)
2	g.230177631T>C	CA431539857	SP110	c.888A>G (p.Pro296=) c.1497A>G (p.Pro499=) c.1347A>G (p.Pro449=) n.219A>G n.2313A>G c.1515A>G (p.Pro505=) c.1491A>G (p.Pro497=) n.151A>G c.1365A>G (p.Pro455=)
2	g.230177631T>G	CA431539858	SP110	c.888A>C (p.Pro296=) c.1497A>C (p.Pro499=) c.1347A>C (p.Pro449=) n.219A>C n.2313A>C c.1515A>C (p.Pro505=) c.1491A>C (p.Pro497=) n.151A>C c.1365A>C (p.Pro455=)
2	g.230177632G>A	CA350903281	SP110	c.887C>T (p.Pro296Leu) c.1496C>T (p.Pro499Leu) c.1346C>T (p.Pro449Leu) n.218C>T n.2312C>T c.1514C>T (p.Pro505Leu) c.1490C>T (p.Pro497Leu) n.150C>T c.1364C>T (p.Pro455Leu)
2	g.230177632G>C	CA350903282	SP110	c.887C>G (p.Pro296Arg) c.1496C>G (p.Pro499Arg) c.1346C>G (p.Pro449Arg) n.218C>G n.2312C>G c.1514C>G (p.Pro505Arg) c.1490C>G (p.Pro497Arg) n.150C>G c.1364C>G (p.Pro455Arg)
2	g.230177632G>T	CA350903283	SP110	c.887C>A (p.Pro296Gln) c.1496C>A (p.Pro499Gln) c.1346C>A (p.Pro449Gln) n.218C>A n.2312C>A c.1514C>A (p.Pro505Gln) c.1490C>A (p.Pro497Gln) n.150C>A c.1364C>A (p.Pro455Gln)
2	g.230177633G>A	CA350903284	SP110	c.886C>T (p.Pro296Ser) c.1495C>T (p.Pro499Ser) c.1345C>T (p.Pro449Ser) n.217C>T n.2311C>T c.1513C>T (p.Pro505Ser) c.1489C>T (p.Pro497Ser) n.149C>T c.1363C>T (p.Pro455Ser)
2	g.230177633G>C	CA350903285	SP110	c.886C>G (p.Pro296Ala) c.1495C>G (p.Pro499Ala) c.1345C>G (p.Pro449Ala) n.217C>G n.2311C>G c.1513C>G (p.Pro505Ala) c.1489C>G (p.Pro497Ala) n.149C>G c.1363C>G (p.Pro455Ala)
2	g.230177633G>T	CA350903286	SP110	c.886C>A (p.Pro296Thr) c.1495C>A (p.Pro499Thr) c.1345C>A (p.Pro449Thr) n.217C>A n.2311C>A c.1513C>A (p.Pro505Thr) c.1489C>A (p.Pro497Thr) n.149C>A c.1363C>A (p.Pro455Thr)
2	g.230177634T>A	CA431539859	SP110	c.885A>T (p.Thr295=) c.1494A>T (p.Thr498=) c.1344A>T (p.Thr448=) n.216A>T n.2310A>T c.1512A>T (p.Thr504=) c.1488A>T (p.Thr496=) n.148A>T c.1362A>T (p.Thr454=)
2	g.230177634T>C	CA431539860	SP110	c.885A>G (p.Thr295=) c.1494A>G (p.Thr498=) c.1344A>G (p.Thr448=) n.216A>G n.2310A>G c.1512A>G (p.Thr504=) c.1488A>G (p.Thr496=) n.148A>G c.1362A>G (p.Thr454=)
2	g.230177634T>G	CA431539861	SP110	c.885A>C (p.Thr295=) c.1494A>C (p.Thr498=) c.1344A>C (p.Thr448=) n.216A>C n.2310A>C c.1512A>C (p.Thr504=) c.1488A>C (p.Thr496=) n.148A>C c.1362A>C (p.Thr454=)
2	g.230177635G>A	CA350903289	SP110	c.884C>T (p.Thr295Ile) c.1493C>T (p.Thr498Ile) c.1343C>T (p.Thr448Ile) n.215C>T n.2309C>T c.1511C>T (p.Thr504Ile) c.1487C>T (p.Thr496Ile) n.147C>T c.1361C>T (p.Thr454Ile)
2	g.230177635G>C	CA350903288	SP110	c.884C>G (p.Thr295Arg) c.1493C>G (p.Thr498Arg) c.1343C>G (p.Thr448Arg) n.215C>G n.2309C>G c.1511C>G (p.Thr504Arg) c.1487C>G (p.Thr496Arg) n.147C>G c.1361C>G (p.Thr454Arg)
2	g.230177635G>T	CA350903287	SP110	c.884C>A (p.Thr295Lys) c.1493C>A (p.Thr498Lys) c.1343C>A (p.Thr448Lys) n.215C>A n.2309C>A c.1511C>A (p.Thr504Lys) c.1487C>A (p.Thr496Lys) n.147C>A c.1361C>A (p.Thr454Lys)	gnomAD v4
2	g.230177637_230177638insGGTT	CA2663486857	SP110	c.884_885insCAAC (p.Pro296AsnfsTer4) c.1493_1494insCAAC (p.Pro499AsnfsTer4) c.1343_1344insCAAC (p.Pro449AsnfsTer4) n.215_216insCAAC n.2309_2310insCAAC c.1511_1512insCAAC (p.Pro505AsnfsTer4) c.1487_1488insCAAC (p.Pro497AsnfsTer4) n.147_148insCAAC c.1361_1362insCAAC (p.Pro455AsnfsTer4)	gnomAD v4
2	g.230177636T>A	CA350903291	SP110	c.883A>T (p.Thr295Ser) c.1492A>T (p.Thr498Ser) c.1342A>T (p.Thr448Ser) n.214A>T n.2308A>T c.1510A>T (p.Thr504Ser) c.1486A>T (p.Thr496Ser) n.146A>T c.1360A>T (p.Thr454Ser)
2	g.230177636T>C	CA350903290	SP110	c.883A>G (p.Thr295Ala) c.1492A>G (p.Thr498Ala) c.1342A>G (p.Thr448Ala) n.214A>G n.2308A>G c.1510A>G (p.Thr504Ala) c.1486A>G (p.Thr496Ala) n.146A>G c.1360A>G (p.Thr454Ala)	gnomAD v4
2	g.230177636T>G	CA350903292	SP110	c.883A>C (p.Thr295Pro) c.1492A>C (p.Thr498Pro) c.1342A>C (p.Thr448Pro) n.214A>C n.2308A>C c.1510A>C (p.Thr504Pro) c.1486A>C (p.Thr496Pro) n.146A>C c.1360A>C (p.Thr454Pro)
2	g.230177637T>A	CA350903293	SP110	c.882A>T (p.Leu294Phe) c.1491A>T (p.Leu497Phe) c.1341A>T (p.Leu447Phe) n.213A>T n.2307A>T c.1509A>T (p.Leu503Phe) c.1485A>T (p.Leu495Phe) n.145A>T c.1359A>T (p.Leu453Phe)
2	g.230177637T>C	CA66735192	SP110	c.882A>G (p.Leu294=) c.1491A>G (p.Leu497=) c.1341A>G (p.Leu447=) n.213A>G n.2307A>G c.1509A>G (p.Leu503=) c.1485A>G (p.Leu495=) n.145A>G c.1359A>G (p.Leu453=)	dbSNP
2	g.230177637T>G	CA350903294	SP110	c.882A>C (p.Leu294Phe) c.1491A>C (p.Leu497Phe) c.1341A>C (p.Leu447Phe) n.213A>C n.2307A>C c.1509A>C (p.Leu503Phe) c.1485A>C (p.Leu495Phe) n.145A>C c.1359A>C (p.Leu453Phe)
2	g.230177637T=	CA1334207197	SP110	c.882A= (p.Leu294=) c.1491A= (p.Leu497=) c.1341A= (p.Leu447=) n.213A= n.2307A= c.1509A= (p.Leu503=) c.1485A= (p.Leu495=) n.145A= c.1359A= (p.Leu453=)
2	g.230177638A>C	CA350903295	SP110	c.881T>G (p.Leu294Ter) c.1490T>G (p.Leu497Ter) c.1340T>G (p.Leu447Ter) n.212T>G n.2306T>G c.1508T>G (p.Leu503Ter) c.1484T>G (p.Leu495Ter) n.144T>G c.1358T>G (p.Leu453Ter)
2	g.230177638A>G	CA350903296	SP110	c.881T>C (p.Leu294Ser) c.1490T>C (p.Leu497Ser) c.1340T>C (p.Leu447Ser) n.212T>C n.2306T>C c.1508T>C (p.Leu503Ser) c.1484T>C (p.Leu495Ser) n.144T>C c.1358T>C (p.Leu453Ser)
2	g.230177638A>T	CA350903297	SP110	c.881T>A (p.Leu294Ter) c.1490T>A (p.Leu497Ter) c.1340T>A (p.Leu447Ter) n.212T>A n.2306T>A c.1508T>A (p.Leu503Ter) c.1484T>A (p.Leu495Ter) n.144T>A c.1358T>A (p.Leu453Ter)
2	g.230177640_230177643del	CA2663486860	SP110	c.878_881del (p.Trp293Ter) c.1487_1490del (p.Trp496Ter) c.1337_1340del (p.Trp446Ter) n.209_212del n.2303_2306del c.1505_1508del (p.Trp502Ter) c.1481_1484del (p.Trp494Ter) n.141_144del c.1355_1358del (p.Trp452Ter)	gnomAD v4
2	g.230177639A>C	CA350903298	SP110	c.880T>G (p.Leu294Val) c.1489T>G (p.Leu497Val) c.1339T>G (p.Leu447Val) n.211T>G n.2305T>G c.1507T>G (p.Leu503Val) c.1483T>G (p.Leu495Val) n.143T>G c.1357T>G (p.Leu453Val)
2	g.230177639A>G	CA431539865	SP110	c.880T>C (p.Leu294=) c.1489T>C (p.Leu497=) c.1339T>C (p.Leu447=) n.211T>C n.2305T>C c.1507T>C (p.Leu503=) c.1483T>C (p.Leu495=) n.143T>C c.1357T>C (p.Leu453=)
2	g.230177639A>T	CA350903299	SP110	c.880T>A (p.Leu294Ile) c.1489T>A (p.Leu497Ile) c.1339T>A (p.Leu447Ile) n.211T>A n.2305T>A c.1507T>A (p.Leu503Ile) c.1483T>A (p.Leu495Ile) n.143T>A c.1357T>A (p.Leu453Ile)
2	g.230177640C>A	CA350903300	SP110	c.879G>T (p.Trp293Cys) c.1488G>T (p.Trp496Cys) c.1338G>T (p.Trp446Cys) n.210G>T n.2304G>T c.1506G>T (p.Trp502Cys) c.1482G>T (p.Trp494Cys) n.142G>T c.1356G>T (p.Trp452Cys)
2	g.230177640C>G	CA350903301	SP110	c.879G>C (p.Trp293Cys) c.1488G>C (p.Trp496Cys) c.1338G>C (p.Trp446Cys) n.210G>C n.2304G>C c.1506G>C (p.Trp502Cys) c.1482G>C (p.Trp494Cys) n.142G>C c.1356G>C (p.Trp452Cys)
2	g.230177640C>T	CA350903302	SP110	c.879G>A (p.Trp293Ter) c.1488G>A (p.Trp496Ter) c.1338G>A (p.Trp446Ter) n.210G>A n.2304G>A c.1506G>A (p.Trp502Ter) c.1482G>A (p.Trp494Ter) n.142G>A c.1356G>A (p.Trp452Ter)	gnomAD v4
2	g.230177641C>A	CA350903303	SP110	c.878G>T (p.Trp293Leu) c.1487G>T (p.Trp496Leu) c.1337G>T (p.Trp446Leu) n.209G>T n.2303G>T c.1505G>T (p.Trp502Leu) c.1481G>T (p.Trp494Leu) n.141G>T c.1355G>T (p.Trp452Leu)
2	g.230177641C=	CA1334207198	SP110	c.878G= (p.Trp293=) c.1487G= (p.Trp496=) c.1337G= (p.Trp446=) n.209G= n.2303G= c.1505G= (p.Trp502=) c.1481G= (p.Trp494=) n.141G= c.1355G= (p.Trp452=)
2	g.230177641C>G	CA350903304	SP110	c.878G>C (p.Trp293Ser) c.1487G>C (p.Trp496Ser) c.1337G>C (p.Trp446Ser) n.209G>C n.2303G>C c.1505G>C (p.Trp502Ser) c.1481G>C (p.Trp494Ser) n.141G>C c.1355G>C (p.Trp452Ser)	dbSNP gnomAD v2 gnomAD v4
2	g.230177641C>T	CA350903306	SP110	c.878G>A (p.Trp293Ter) c.1487G>A (p.Trp496Ter) c.1337G>A (p.Trp446Ter) n.209G>A n.2303G>A c.1505G>A (p.Trp502Ter) c.1481G>A (p.Trp494Ter) n.141G>A c.1355G>A (p.Trp452Ter)
2	g.230177642A>C	CA350903310	SP110	c.877T>G (p.Trp293Gly) c.1486T>G (p.Trp496Gly) c.1336T>G (p.Trp446Gly) n.208T>G n.2302T>G c.1504T>G (p.Trp502Gly) c.1480T>G (p.Trp494Gly) n.140T>G c.1354T>G (p.Trp452Gly)
2	g.230177642A>G	CA350903308	SP110	c.877T>C (p.Trp293Arg) c.1486T>C (p.Trp496Arg) c.1336T>C (p.Trp446Arg) n.208T>C n.2302T>C c.1504T>C (p.Trp502Arg) c.1480T>C (p.Trp494Arg) n.140T>C c.1354T>C (p.Trp452Arg)
2	g.230177642A>T	CA350903309	SP110	c.877T>A (p.Trp293Arg) c.1486T>A (p.Trp496Arg) c.1336T>A (p.Trp446Arg) n.208T>A n.2302T>A c.1504T>A (p.Trp502Arg) c.1480T>A (p.Trp494Arg) n.140T>A c.1354T>A (p.Trp452Arg)
2	g.230177643A=	CA1334207199	SP110	c.876T= (p.Thr292=) c.1485T= (p.Thr495=) c.1335T= (p.Thr445=) n.207T= n.2301T= c.1503T= (p.Thr501=) c.1479T= (p.Thr493=) n.139T= c.1353T= (p.Thr451=)
2	g.230177643A>C	CA66735199	SP110	c.876T>G (p.Thr292=) c.1485T>G (p.Thr495=) c.1335T>G (p.Thr445=) n.207T>G n.2301T>G c.1503T>G (p.Thr501=) c.1479T>G (p.Thr493=) n.139T>G c.1353T>G (p.Thr451=)	ClinVar dbSNP gnomAD v4
2	g.230177643A>G	CA431539869	SP110	c.876T>C (p.Thr292=) c.1485T>C (p.Thr495=) c.1335T>C (p.Thr445=) n.207T>C n.2301T>C c.1503T>C (p.Thr501=) c.1479T>C (p.Thr493=) n.139T>C c.1353T>C (p.Thr451=)
2	g.230177643A>T	CA431539870	SP110	c.876T>A (p.Thr292=) c.1485T>A (p.Thr495=) c.1335T>A (p.Thr445=) n.207T>A n.2301T>A c.1503T>A (p.Thr501=) c.1479T>A (p.Thr493=) n.139T>A c.1353T>A (p.Thr451=)
2	g.230177644G>A	CA66735207	SP110	c.875C>T (p.Thr292Ile) c.1484C>T (p.Thr495Ile) c.1334C>T (p.Thr445Ile) n.206C>T n.2300C>T c.1502C>T (p.Thr501Ile) c.1478C>T (p.Thr493Ile) n.138C>T c.1352C>T (p.Thr451Ile)	dbSNP
2	g.230177644G>C	CA350903311	SP110	c.875C>G (p.Thr292Ser) c.1484C>G (p.Thr495Ser) c.1334C>G (p.Thr445Ser) n.206C>G n.2300C>G c.1502C>G (p.Thr501Ser) c.1478C>G (p.Thr493Ser) n.138C>G c.1352C>G (p.Thr451Ser)
2	g.230177644G=	CA1334207200	SP110	c.875C= (p.Thr292=) c.1484C= (p.Thr495=) c.1334C= (p.Thr445=) n.206C= n.2300C= c.1502C= (p.Thr501=) c.1478C= (p.Thr493=) n.138C= c.1352C= (p.Thr451=)
2	g.230177644G>T	CA350903312	SP110	c.875C>A (p.Thr292Asn) c.1484C>A (p.Thr495Asn) c.1334C>A (p.Thr445Asn) n.206C>A n.2300C>A c.1502C>A (p.Thr501Asn) c.1478C>A (p.Thr493Asn) n.138C>A c.1352C>A (p.Thr451Asn)
2	g.230177645T>A	CA350903314	SP110	c.874A>T (p.Thr292Ser) c.1483A>T (p.Thr495Ser) c.1333A>T (p.Thr445Ser) n.205A>T n.2299A>T c.1501A>T (p.Thr501Ser) c.1477A>T (p.Thr493Ser) n.137A>T c.1351A>T (p.Thr451Ser)
2	g.230177645T>C	CA350903316	SP110	c.874A>G (p.Thr292Ala) c.1483A>G (p.Thr495Ala) c.1333A>G (p.Thr445Ala) n.205A>G n.2299A>G c.1501A>G (p.Thr501Ala) c.1477A>G (p.Thr493Ala) n.137A>G c.1351A>G (p.Thr451Ala)
2	g.230177645T>G	CA2154480	SP110	c.874A>C (p.Thr292Pro) c.1483A>C (p.Thr495Pro) c.1333A>C (p.Thr445Pro) n.205A>C n.2299A>C c.1501A>C (p.Thr501Pro) c.1477A>C (p.Thr493Pro) n.137A>C c.1351A>C (p.Thr451Pro)	ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2	g.230177645T=	CA1334207201	SP110	c.874A= (p.Thr292=) c.1483A= (p.Thr495=) c.1333A= (p.Thr445=) n.205A= n.2299A= c.1501A= (p.Thr501=) c.1477A= (p.Thr493=) n.137A= c.1351A= (p.Thr451=)
2	g.230177646T>A	CA431539875	SP110	c.873A>T (p.Gly291=) c.1482A>T (p.Gly494=) c.1332A>T (p.Gly444=) n.204A>T n.2298A>T c.1500A>T (p.Gly500=) c.1476A>T (p.Gly492=) n.136A>T c.1350A>T (p.Gly450=)
2	g.230177646T>C	CA431539874	SP110	c.873A>G (p.Gly291=) c.1482A>G (p.Gly494=) c.1332A>G (p.Gly444=) n.204A>G n.2298A>G c.1500A>G (p.Gly500=) c.1476A>G (p.Gly492=) n.136A>G c.1350A>G (p.Gly450=)
2	g.230177646T>G	CA431539873	SP110	c.873A>C (p.Gly291=) c.1482A>C (p.Gly494=) c.1332A>C (p.Gly444=) n.204A>C n.2298A>C c.1500A>C (p.Gly500=) c.1476A>C (p.Gly492=) n.136A>C c.1350A>C (p.Gly450=)
2	g.230177647C>A	CA350903318	SP110	c.872G>T (p.Gly291Val) c.1481G>T (p.Gly494Val) c.1331G>T (p.Gly444Val) n.203G>T n.2297G>T c.1499G>T (p.Gly500Val) c.1475G>T (p.Gly492Val) n.135G>T c.1349G>T (p.Gly450Val)
2	g.230177647C>G	CA350903319	SP110	c.872G>C (p.Gly291Ala) c.1481G>C (p.Gly494Ala) c.1331G>C (p.Gly444Ala) n.203G>C n.2297G>C c.1499G>C (p.Gly500Ala) c.1475G>C (p.Gly492Ala) n.135G>C c.1349G>C (p.Gly450Ala)
2	g.230177647C>T	CA350903320	SP110	c.872G>A (p.Gly291Glu) c.1481G>A (p.Gly494Glu) c.1331G>A (p.Gly444Glu) n.203G>A n.2297G>A c.1499G>A (p.Gly500Glu) c.1475G>A (p.Gly492Glu) n.135G>A c.1349G>A (p.Gly450Glu)
2	g.230177648C>A	CA350903321	SP110	c.871G>T (p.Gly291Ter) c.1480G>T (p.Gly494Ter) c.1330G>T (p.Gly444Ter) n.202G>T n.2296G>T c.1498G>T (p.Gly500Ter) c.1474G>T (p.Gly492Ter) n.134G>T c.1348G>T (p.Gly450Ter)
2	g.230177648C=	CA1334207202	SP110	c.871G= (p.Gly291=) c.1480G= (p.Gly494=) c.1330G= (p.Gly444=) n.202G= n.2296G= c.1498G= (p.Gly500=) c.1474G= (p.Gly492=) n.134G= c.1348G= (p.Gly450=)
2	g.230177648C>G	CA350903323	SP110	c.871G>C (p.Gly291Arg) c.1480G>C (p.Gly494Arg) c.1330G>C (p.Gly444Arg) n.202G>C n.2296G>C c.1498G>C (p.Gly500Arg) c.1474G>C (p.Gly492Arg) n.134G>C c.1348G>C (p.Gly450Arg)
2	g.230177648C>T	CA2154481	SP110	c.871G>A (p.Gly291Arg) c.1480G>A (p.Gly494Arg) c.1330G>A (p.Gly444Arg) n.202G>A n.2296G>A c.1498G>A (p.Gly500Arg) c.1474G>A (p.Gly492Arg) n.134G>A c.1348G>A (p.Gly450Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.230177649A>C	CA350903325	SP110	c.870T>G (p.Asp290Glu) c.1479T>G (p.Asp493Glu) c.1329T>G (p.Asp443Glu) n.201T>G n.2295T>G c.1497T>G (p.Asp499Glu) c.1473T>G (p.Asp491Glu) n.133T>G c.1347T>G (p.Asp449Glu)
2	g.230177649A>G	CA431539877	SP110	c.870T>C (p.Asp290=) c.1479T>C (p.Asp493=) c.1329T>C (p.Asp443=) n.201T>C n.2295T>C c.1497T>C (p.Asp499=) c.1473T>C (p.Asp491=) n.133T>C c.1347T>C (p.Asp449=)
2	g.230177649A>T	CA350903327	SP110	c.870T>A (p.Asp290Glu) c.1479T>A (p.Asp493Glu) c.1329T>A (p.Asp443Glu) n.201T>A n.2295T>A c.1497T>A (p.Asp499Glu) c.1473T>A (p.Asp491Glu) n.133T>A c.1347T>A (p.Asp449Glu)	gnomAD v4
2	g.230177650T>A	CA350903329	SP110	c.869A>T (p.Asp290Val) c.1478A>T (p.Asp493Val) c.1328A>T (p.Asp443Val) n.200A>T n.2294A>T c.1496A>T (p.Asp499Val) c.1472A>T (p.Asp491Val) n.132A>T c.1346A>T (p.Asp449Val)	ClinVar dbSNP
2	g.230177650T>C	CA350903331	SP110	c.869A>G (p.Asp290Gly) c.1478A>G (p.Asp493Gly) c.1328A>G (p.Asp443Gly) n.200A>G n.2294A>G c.1496A>G (p.Asp499Gly) c.1472A>G (p.Asp491Gly) n.132A>G c.1346A>G (p.Asp449Gly)
2	g.230177650T>G	CA350903332	SP110	c.869A>C (p.Asp290Ala) c.1478A>C (p.Asp493Ala) c.1328A>C (p.Asp443Ala) n.200A>C n.2294A>C c.1496A>C (p.Asp499Ala) c.1472A>C (p.Asp491Ala) n.132A>C c.1346A>C (p.Asp449Ala)
2	g.230177651C>A	CA350903334	SP110	c.868G>T (p.Asp290Tyr) c.1477G>T (p.Asp493Tyr) c.1327G>T (p.Asp443Tyr) n.199G>T n.2293G>T c.1495G>T (p.Asp499Tyr) c.1471G>T (p.Asp491Tyr) n.131G>T c.1345G>T (p.Asp449Tyr)
2	g.230177651C>G	CA350903336	SP110	c.868G>C (p.Asp290His) c.1477G>C (p.Asp493His) c.1327G>C (p.Asp443His) n.199G>C n.2293G>C c.1495G>C (p.Asp499His) c.1471G>C (p.Asp491His) n.131G>C c.1345G>C (p.Asp449His)	gnomAD v4
2	g.230177651C>T	CA350903337	SP110	c.868G>A (p.Asp290Asn) c.1477G>A (p.Asp493Asn) c.1327G>A (p.Asp443Asn) n.199G>A n.2293G>A c.1495G>A (p.Asp499Asn) c.1471G>A (p.Asp491Asn) n.131G>A c.1345G>A (p.Asp449Asn)	gnomAD v4
2	g.230177652C>A	CA350903339	SP110	c.867G>T (p.Glu289Asp) c.1476G>T (p.Glu492Asp) c.1326G>T (p.Glu442Asp) n.198G>T n.2292G>T c.1494G>T (p.Glu498Asp) c.1470G>T (p.Glu490Asp) n.130G>T c.1344G>T (p.Glu448Asp)
2	g.230177652C=	CA1334207203	SP110	c.867G= (p.Glu289=) c.1476G= (p.Glu492=) c.1326G= (p.Glu442=) n.198G= n.2292G= c.1494G= (p.Glu498=) c.1470G= (p.Glu490=) n.130G= c.1344G= (p.Glu448=)
2	g.230177652C>G	CA350903341	SP110	c.867G>C (p.Glu289Asp) c.1476G>C (p.Glu492Asp) c.1326G>C (p.Glu442Asp) n.198G>C n.2292G>C c.1494G>C (p.Glu498Asp) c.1470G>C (p.Glu490Asp) n.130G>C c.1344G>C (p.Glu448Asp)
2	g.230177652C>T	CA431539881	SP110	c.867G>A (p.Glu289=) c.1476G>A (p.Glu492=) c.1326G>A (p.Glu442=) n.198G>A n.2292G>A c.1494G>A (p.Glu498=) c.1470G>A (p.Glu490=) n.130G>A c.1344G>A (p.Glu448=)	dbSNP
2	g.230177653T>A	CA350903343	SP110	c.866A>T (p.Glu289Val) c.1475A>T (p.Glu492Val) c.1325A>T (p.Glu442Val) n.197A>T n.2291A>T c.1493A>T (p.Glu498Val) c.1469A>T (p.Glu490Val) n.129A>T c.1343A>T (p.Glu448Val)
2	g.230177653T>C	CA350903345	SP110	c.866A>G (p.Glu289Gly) c.1475A>G (p.Glu492Gly) c.1325A>G (p.Glu442Gly) n.197A>G n.2291A>G c.1493A>G (p.Glu498Gly) c.1469A>G (p.Glu490Gly) n.129A>G c.1343A>G (p.Glu448Gly)	gnomAD v4
2	g.230177653T>G	CA350903347	SP110	c.866A>C (p.Glu289Ala) c.1475A>C (p.Glu492Ala) c.1325A>C (p.Glu442Ala) n.197A>C n.2291A>C c.1493A>C (p.Glu498Ala) c.1469A>C (p.Glu490Ala) n.129A>C c.1343A>C (p.Glu448Ala)
2	g.230177654C>A	CA350903349	SP110	c.865G>T (p.Glu289Ter) c.1474G>T (p.Glu492Ter) c.1324G>T (p.Glu442Ter) n.196G>T n.2290G>T c.1492G>T (p.Glu498Ter) c.1468G>T (p.Glu490Ter) n.128G>T c.1342G>T (p.Glu448Ter)
2	g.230177654C>G	CA350903350	SP110	c.865G>C (p.Glu289Gln) c.1474G>C (p.Glu492Gln) c.1324G>C (p.Glu442Gln) n.196G>C n.2290G>C c.1492G>C (p.Glu498Gln) c.1468G>C (p.Glu490Gln) n.128G>C c.1342G>C (p.Glu448Gln)
2	g.230177654C>T	CA350903352	SP110	c.865G>A (p.Glu289Lys) c.1474G>A (p.Glu492Lys) c.1324G>A (p.Glu442Lys) n.196G>A n.2290G>A c.1492G>A (p.Glu498Lys) c.1468G>A (p.Glu490Lys) n.128G>A c.1342G>A (p.Glu448Lys)	gnomAD v4
2	g.230177655A>C	CA350903354	SP110	c.864T>G (p.Asn288Lys) c.1473T>G (p.Asn491Lys) c.1323T>G (p.Asn441Lys) n.195T>G n.2289T>G c.1491T>G (p.Asn497Lys) c.1467T>G (p.Asn489Lys) n.127T>G c.1341T>G (p.Asn447Lys)
2	g.230177655A>G	CA431539882	SP110	c.864T>C (p.Asn288=) c.1473T>C (p.Asn491=) c.1323T>C (p.Asn441=) n.195T>C n.2289T>C c.1491T>C (p.Asn497=) c.1467T>C (p.Asn489=) n.127T>C c.1341T>C (p.Asn447=)
2	g.230177655A>T	CA350903356	SP110	c.864T>A (p.Asn288Lys) c.1473T>A (p.Asn491Lys) c.1323T>A (p.Asn441Lys) n.195T>A n.2289T>A c.1491T>A (p.Asn497Lys) c.1467T>A (p.Asn489Lys) n.127T>A c.1341T>A (p.Asn447Lys)
2	g.230177656T>A	CA350903357	SP110	c.863A>T (p.Asn288Ile) c.1472A>T (p.Asn491Ile) c.1322A>T (p.Asn441Ile) n.194A>T n.2288A>T c.1490A>T (p.Asn497Ile) c.1466A>T (p.Asn489Ile) n.126A>T c.1340A>T (p.Asn447Ile)
2	g.230177656T>C	CA350903359	SP110	c.863A>G (p.Asn288Ser) c.1472A>G (p.Asn491Ser) c.1322A>G (p.Asn441Ser) n.194A>G n.2288A>G c.1490A>G (p.Asn497Ser) c.1466A>G (p.Asn489Ser) n.126A>G c.1340A>G (p.Asn447Ser)	dbSNP gnomAD v3 gnomAD v4
2	g.230177656T>G	CA350903361	SP110	c.863A>C (p.Asn288Thr) c.1472A>C (p.Asn491Thr) c.1322A>C (p.Asn441Thr) n.194A>C n.2288A>C c.1490A>C (p.Asn497Thr) c.1466A>C (p.Asn489Thr) n.126A>C c.1340A>C (p.Asn447Thr)
2	g.230177656T=	CA1334207204	SP110	c.863A= (p.Asn288=) c.1472A= (p.Asn491=) c.1322A= (p.Asn441=) n.194A= n.2288A= c.1490A= (p.Asn497=) c.1466A= (p.Asn489=) n.126A= c.1340A= (p.Asn447=)
2	g.230177657T>A	CA350903362	SP110	c.862A>T (p.Asn288Tyr) c.1471A>T (p.Asn491Tyr) c.1321A>T (p.Asn441Tyr) n.193A>T n.2287A>T c.1489A>T (p.Asn497Tyr) c.1465A>T (p.Asn489Tyr) n.125A>T c.1339A>T (p.Asn447Tyr)
2	g.230177657T>C	CA350903364	SP110	c.862A>G (p.Asn288Asp) c.1471A>G (p.Asn491Asp) c.1321A>G (p.Asn441Asp) n.193A>G n.2287A>G c.1489A>G (p.Asn497Asp) c.1465A>G (p.Asn489Asp) n.125A>G c.1339A>G (p.Asn447Asp)
2	g.230177657T>G	CA350903366	SP110	c.862A>C (p.Asn288His) c.1471A>C (p.Asn491His) c.1321A>C (p.Asn441His) n.193A>C n.2287A>C c.1489A>C (p.Asn497His) c.1465A>C (p.Asn489His) n.125A>C c.1339A>C (p.Asn447His)
2	g.230177658C>A	CA431539886	SP110	c.861G>T (p.Arg287=) c.1470G>T (p.Arg490=) c.1320G>T (p.Arg440=) n.192G>T n.2286G>T c.1488G>T (p.Arg496=) c.1464G>T (p.Arg488=) n.124G>T c.1338G>T (p.Arg446=)
2	g.230177658C>G	CA431539887	SP110	c.861G>C (p.Arg287=) c.1470G>C (p.Arg490=) c.1320G>C (p.Arg440=) n.192G>C n.2286G>C c.1488G>C (p.Arg496=) c.1464G>C (p.Arg488=) n.124G>C c.1338G>C (p.Arg446=)
2	g.230177658C>T	CA431539888	SP110	c.861G>A (p.Arg287=) c.1470G>A (p.Arg490=) c.1320G>A (p.Arg440=) n.192G>A n.2286G>A c.1488G>A (p.Arg496=) c.1464G>A (p.Arg488=) n.124G>A c.1338G>A (p.Arg446=)
2	g.230177659C>A	CA350903368	SP110	c.860G>T (p.Arg287Leu) c.1469G>T (p.Arg490Leu) c.1319G>T (p.Arg440Leu) n.191G>T n.2285G>T c.1487G>T (p.Arg496Leu) c.1463G>T (p.Arg488Leu) n.123G>T c.1337G>T (p.Arg446Leu)
2	g.230177659C=	CA1334207205	SP110	c.860G= (p.Arg287=) c.1469G= (p.Arg490=) c.1319G= (p.Arg440=) n.191G= n.2285G= c.1487G= (p.Arg496=) c.1463G= (p.Arg488=) n.123G= c.1337G= (p.Arg446=)
2	g.230177659C>G	CA350903369	SP110	c.860G>C (p.Arg287Pro) c.1469G>C (p.Arg490Pro) c.1319G>C (p.Arg440Pro) n.191G>C n.2285G>C c.1487G>C (p.Arg496Pro) c.1463G>C (p.Arg488Pro) n.123G>C c.1337G>C (p.Arg446Pro)
2	g.230177659C>T	CA2154482	SP110	c.860G>A (p.Arg287Gln) c.1469G>A (p.Arg490Gln) c.1319G>A (p.Arg440Gln) n.191G>A n.2285G>A c.1487G>A (p.Arg496Gln) c.1463G>A (p.Arg488Gln) n.123G>A c.1337G>A (p.Arg446Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.230177660G>A	CA2154483	SP110	c.859C>T (p.Arg287Trp) c.1468C>T (p.Arg490Trp) c.1318C>T (p.Arg440Trp) n.190C>T n.2284C>T c.1486C>T (p.Arg496Trp) c.1462C>T (p.Arg488Trp) n.122C>T c.1336C>T (p.Arg446Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.230177660G>C	CA350903373	SP110	c.859C>G (p.Arg287Gly) c.1468C>G (p.Arg490Gly) c.1318C>G (p.Arg440Gly) n.190C>G n.2284C>G c.1486C>G (p.Arg496Gly) c.1462C>G (p.Arg488Gly) n.122C>G c.1336C>G (p.Arg446Gly)	dbSNP
2	g.230177660G=	CA1334207206	SP110	c.859C= (p.Arg287=) c.1468C= (p.Arg490=) c.1318C= (p.Arg440=) n.190C= n.2284C= c.1486C= (p.Arg496=) c.1462C= (p.Arg488=) n.122C= c.1336C= (p.Arg446=)
2	g.230177660G>T	CA66735277	SP110	c.859C>A (p.Arg287=) c.1468C>A (p.Arg490=) c.1318C>A (p.Arg440=) n.190C>A n.2284C>A c.1486C>A (p.Arg496=) c.1462C>A (p.Arg488=) n.122C>A c.1336C>A (p.Arg446=)	dbSNP
2	g.230177661A>C	CA350903374	SP110	c.858T>G (p.Ile286Met) c.1467T>G (p.Ile489Met) c.1317T>G (p.Ile439Met) n.189T>G n.2283T>G c.1485T>G (p.Ile495Met) c.1461T>G (p.Ile487Met) n.121T>G c.1335T>G (p.Ile445Met)
2	g.230177661A>G	CA431539892	SP110	c.858T>C (p.Ile286=) c.1467T>C (p.Ile489=) c.1317T>C (p.Ile439=) n.189T>C n.2283T>C c.1485T>C (p.Ile495=) c.1461T>C (p.Ile487=) n.121T>C c.1335T>C (p.Ile445=)	gnomAD v4
2	g.230177661A>T	CA431539891	SP110	c.858T>A (p.Ile286=) c.1467T>A (p.Ile489=) c.1317T>A (p.Ile439=) n.189T>A n.2283T>A c.1485T>A (p.Ile495=) c.1461T>A (p.Ile487=) n.121T>A c.1335T>A (p.Ile445=)
2	g.230177662A>C	CA350903379	SP110	c.857T>G (p.Ile286Ser) c.1466T>G (p.Ile489Ser) c.1316T>G (p.Ile439Ser) n.188T>G n.2282T>G c.1484T>G (p.Ile495Ser) c.1460T>G (p.Ile487Ser) n.120T>G c.1334T>G (p.Ile445Ser)
2	g.230177662A>G	CA350903382	SP110	c.857T>C (p.Ile286Thr) c.1466T>C (p.Ile489Thr) c.1316T>C (p.Ile439Thr) n.188T>C n.2282T>C c.1484T>C (p.Ile495Thr) c.1460T>C (p.Ile487Thr) n.120T>C c.1334T>C (p.Ile445Thr)	gnomAD v4
2	g.230177662A>T	CA350903377	SP110	c.857T>A (p.Ile286Asn) c.1466T>A (p.Ile489Asn) c.1316T>A (p.Ile439Asn) n.188T>A n.2282T>A c.1484T>A (p.Ile495Asn) c.1460T>A (p.Ile487Asn) n.120T>A c.1334T>A (p.Ile445Asn)

Number of alleles fetched