Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33174541G>ACA3750918COL11A2c.989C>T
c.2416C>T (p.Arg806Cys)
c.2095C>T (p.Arg699Cys)
c.2158C>T (p.Arg720Cys)
n.272+2468C>T
c.1570C>T (p.Arg524Cys)
c.1702C>T (p.Arg568Cys)
c.1522C>T (p.Arg508Cys)
c.1459C>T (p.Arg487Cys)
c.1303C>T (p.Arg435Cys)
c.1234C>T (p.Arg412Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33174541G>CCA363644197COL11A2c.989C>G
c.2416C>G (p.Arg806Gly)
c.2095C>G (p.Arg699Gly)
c.2158C>G (p.Arg720Gly)
n.272+2468C>G
c.1570C>G (p.Arg524Gly)
c.1702C>G (p.Arg568Gly)
c.1522C>G (p.Arg508Gly)
c.1459C>G (p.Arg487Gly)
c.1303C>G (p.Arg435Gly)
c.1234C>G (p.Arg412Gly)
6g.33174541G=CA1619898439COL11A2c.989C=
c.2416C= (p.Arg806=)
c.2095C= (p.Arg699=)
c.2158C= (p.Arg720=)
n.272+2468C=
c.1570C= (p.Arg524=)
c.1702C= (p.Arg568=)
c.1522C= (p.Arg508=)
c.1459C= (p.Arg487=)
c.1303C= (p.Arg435=)
c.1234C= (p.Arg412=)
6g.33174541G>TCA363644194COL11A2c.989C>A
c.2416C>A (p.Arg806Ser)
c.2095C>A (p.Arg699Ser)
c.2158C>A (p.Arg720Ser)
n.272+2468C>A
c.1570C>A (p.Arg524Ser)
c.1702C>A (p.Arg568Ser)
c.1522C>A (p.Arg508Ser)
c.1459C>A (p.Arg487Ser)
c.1303C>A (p.Arg435Ser)
c.1234C>A (p.Arg412Ser)
 gnomAD v4
6g.33174542T>ACA449881431COL11A2c.988A>T
c.2415A>T (p.Gly805=)
c.2094A>T (p.Gly698=)
c.2157A>T (p.Gly719=)
n.272+2467A>T
c.1569A>T (p.Gly523=)
c.1701A>T (p.Gly567=)
c.1521A>T (p.Gly507=)
c.1458A>T (p.Gly486=)
c.1302A>T (p.Gly434=)
c.1233A>T (p.Gly411=)
6g.33174542T>CCA449881432COL11A2c.988A>G
c.2415A>G (p.Gly805=)
c.2094A>G (p.Gly698=)
c.2157A>G (p.Gly719=)
n.272+2467A>G
c.1569A>G (p.Gly523=)
c.1701A>G (p.Gly567=)
c.1521A>G (p.Gly507=)
c.1458A>G (p.Gly486=)
c.1302A>G (p.Gly434=)
c.1233A>G (p.Gly411=)
 ClinVar dbSNP
6g.33174542T>GCA449881433COL11A2c.988A>C
c.2415A>C (p.Gly805=)
c.2094A>C (p.Gly698=)
c.2157A>C (p.Gly719=)
n.272+2467A>C
c.1569A>C (p.Gly523=)
c.1701A>C (p.Gly567=)
c.1521A>C (p.Gly507=)
c.1458A>C (p.Gly486=)
c.1302A>C (p.Gly434=)
c.1233A>C (p.Gly411=)
6g.33174543C>ACA363644201COL11A2c.987G>T
c.2414G>T (p.Gly805Val)
c.2093G>T (p.Gly698Val)
c.2156G>T (p.Gly719Val)
n.272+2466G>T
c.1568G>T (p.Gly523Val)
c.1700G>T (p.Gly567Val)
c.1520G>T (p.Gly507Val)
c.1457G>T (p.Gly486Val)
c.1301G>T (p.Gly434Val)
c.1232G>T (p.Gly411Val)
 gnomAD v4
6g.33174543C>GCA363644203COL11A2c.987G>C
c.2414G>C (p.Gly805Ala)
c.2093G>C (p.Gly698Ala)
c.2156G>C (p.Gly719Ala)
n.272+2466G>C
c.1568G>C (p.Gly523Ala)
c.1700G>C (p.Gly567Ala)
c.1520G>C (p.Gly507Ala)
c.1457G>C (p.Gly486Ala)
c.1301G>C (p.Gly434Ala)
c.1232G>C (p.Gly411Ala)
6g.33174543C>TCA363644204COL11A2c.987G>A
c.2414G>A (p.Gly805Glu)
c.2093G>A (p.Gly698Glu)
c.2156G>A (p.Gly719Glu)
n.272+2466G>A
c.1568G>A (p.Gly523Glu)
c.1700G>A (p.Gly567Glu)
c.1520G>A (p.Gly507Glu)
c.1457G>A (p.Gly486Glu)
c.1301G>A (p.Gly434Glu)
c.1232G>A (p.Gly411Glu)
6g.33174544C>ACA363644205COL11A2c.986G>T
c.2413G>T (p.Gly805Ter)
c.2092G>T (p.Gly698Ter)
c.2155G>T (p.Gly719Ter)
n.272+2465G>T
c.1567G>T (p.Gly523Ter)
c.1699G>T (p.Gly567Ter)
c.1519G>T (p.Gly507Ter)
c.1456G>T (p.Gly486Ter)
c.1300G>T (p.Gly434Ter)
c.1231G>T (p.Gly411Ter)
6g.33174544C>GCA363644207COL11A2c.986G>C
c.2413G>C (p.Gly805Arg)
c.2092G>C (p.Gly698Arg)
c.2155G>C (p.Gly719Arg)
n.272+2465G>C
c.1567G>C (p.Gly523Arg)
c.1699G>C (p.Gly567Arg)
c.1519G>C (p.Gly507Arg)
c.1456G>C (p.Gly486Arg)
c.1300G>C (p.Gly434Arg)
c.1231G>C (p.Gly411Arg)
6g.33174544C>TCA363644208COL11A2c.986G>A
c.2413G>A (p.Gly805Arg)
c.2092G>A (p.Gly698Arg)
c.2155G>A (p.Gly719Arg)
n.272+2465G>A
c.1567G>A (p.Gly523Arg)
c.1699G>A (p.Gly567Arg)
c.1519G>A (p.Gly507Arg)
c.1456G>A (p.Gly486Arg)
c.1300G>A (p.Gly434Arg)
c.1231G>A (p.Gly411Arg)
6g.33174545A=CA1619898440COL11A2c.985T=
c.2412T= (p.Pro804=)
c.2091T= (p.Pro697=)
c.2154T= (p.Pro718=)
n.272+2464T=
c.1566T= (p.Pro522=)
c.1698T= (p.Pro566=)
c.1518T= (p.Pro506=)
c.1455T= (p.Pro485=)
c.1299T= (p.Pro433=)
c.1230T= (p.Pro410=)
6g.33174545A>CCA449881434COL11A2c.985T>G
c.2412T>G (p.Pro804=)
c.2091T>G (p.Pro697=)
c.2154T>G (p.Pro718=)
n.272+2464T>G
c.1566T>G (p.Pro522=)
c.1698T>G (p.Pro566=)
c.1518T>G (p.Pro506=)
c.1455T>G (p.Pro485=)
c.1299T>G (p.Pro433=)
c.1230T>G (p.Pro410=)
6g.33174545A>GCA449881436COL11A2c.985T>C
c.2412T>C (p.Pro804=)
c.2091T>C (p.Pro697=)
c.2154T>C (p.Pro718=)
n.272+2464T>C
c.1566T>C (p.Pro522=)
c.1698T>C (p.Pro566=)
c.1518T>C (p.Pro506=)
c.1455T>C (p.Pro485=)
c.1299T>C (p.Pro433=)
c.1230T>C (p.Pro410=)
 ClinVar dbSNP gnomAD v4
6g.33174545A>TCA449881437COL11A2c.985T>A
c.2412T>A (p.Pro804=)
c.2091T>A (p.Pro697=)
c.2154T>A (p.Pro718=)
n.272+2464T>A
c.1566T>A (p.Pro522=)
c.1698T>A (p.Pro566=)
c.1518T>A (p.Pro506=)
c.1455T>A (p.Pro485=)
c.1299T>A (p.Pro433=)
c.1230T>A (p.Pro410=)
6g.33174546G>ACA363644211COL11A2c.984C>T
c.2411C>T (p.Pro804Leu)
c.2090C>T (p.Pro697Leu)
c.2153C>T (p.Pro718Leu)
n.272+2463C>T
c.1565C>T (p.Pro522Leu)
c.1697C>T (p.Pro566Leu)
c.1517C>T (p.Pro506Leu)
c.1454C>T (p.Pro485Leu)
c.1298C>T (p.Pro433Leu)
c.1229C>T (p.Pro410Leu)
 ClinVar gnomAD v4
6g.33174546G>CCA363644215COL11A2c.984C>G
c.2411C>G (p.Pro804Arg)
c.2090C>G (p.Pro697Arg)
c.2153C>G (p.Pro718Arg)
n.272+2463C>G
c.1565C>G (p.Pro522Arg)
c.1697C>G (p.Pro566Arg)
c.1517C>G (p.Pro506Arg)
c.1454C>G (p.Pro485Arg)
c.1298C>G (p.Pro433Arg)
c.1229C>G (p.Pro410Arg)
6g.33174546G>TCA363644218COL11A2c.984C>A
c.2411C>A (p.Pro804His)
c.2090C>A (p.Pro697His)
c.2153C>A (p.Pro718His)
n.272+2463C>A
c.1565C>A (p.Pro522His)
c.1697C>A (p.Pro566His)
c.1517C>A (p.Pro506His)
c.1454C>A (p.Pro485His)
c.1298C>A (p.Pro433His)
c.1229C>A (p.Pro410His)
6g.33174547G>ACA363644222COL11A2c.983C>T
c.2410C>T (p.Pro804Ser)
c.2089C>T (p.Pro697Ser)
c.2152C>T (p.Pro718Ser)
n.272+2462C>T
c.1564C>T (p.Pro522Ser)
c.1696C>T (p.Pro566Ser)
c.1516C>T (p.Pro506Ser)
c.1453C>T (p.Pro485Ser)
c.1297C>T (p.Pro433Ser)
c.1228C>T (p.Pro410Ser)
6g.33174547G>CCA363644224COL11A2c.983C>G
c.2410C>G (p.Pro804Ala)
c.2089C>G (p.Pro697Ala)
c.2152C>G (p.Pro718Ala)
n.272+2462C>G
c.1564C>G (p.Pro522Ala)
c.1696C>G (p.Pro566Ala)
c.1516C>G (p.Pro506Ala)
c.1453C>G (p.Pro485Ala)
c.1297C>G (p.Pro433Ala)
c.1228C>G (p.Pro410Ala)
6g.33174547G>TCA363644227COL11A2c.983C>A
c.2410C>A (p.Pro804Thr)
c.2089C>A (p.Pro697Thr)
c.2152C>A (p.Pro718Thr)
n.272+2462C>A
c.1564C>A (p.Pro522Thr)
c.1696C>A (p.Pro566Thr)
c.1516C>A (p.Pro506Thr)
c.1453C>A (p.Pro485Thr)
c.1297C>A (p.Pro433Thr)
c.1228C>A (p.Pro410Thr)
 gnomAD v4
6g.33174548A>CCA363644230COL11A2c.982T>G
c.2409T>G (p.Tyr803Ter)
c.2088T>G (p.Tyr696Ter)
c.2151T>G (p.Tyr717Ter)
n.272+2461T>G
c.1563T>G (p.Tyr521Ter)
c.1695T>G (p.Tyr565Ter)
c.1515T>G (p.Tyr505Ter)
c.1452T>G (p.Tyr484Ter)
c.1296T>G (p.Tyr432Ter)
c.1227T>G (p.Tyr409Ter)
6g.33174548A>GCA449881440COL11A2c.982T>C
c.2409T>C (p.Tyr803=)
c.2088T>C (p.Tyr696=)
c.2151T>C (p.Tyr717=)
n.272+2461T>C
c.1563T>C (p.Tyr521=)
c.1695T>C (p.Tyr565=)
c.1515T>C (p.Tyr505=)
c.1452T>C (p.Tyr484=)
c.1296T>C (p.Tyr432=)
c.1227T>C (p.Tyr409=)
 ClinVar
6g.33174548A>TCA363644233COL11A2c.982T>A
c.2409T>A (p.Tyr803Ter)
c.2088T>A (p.Tyr696Ter)
c.2151T>A (p.Tyr717Ter)
n.272+2461T>A
c.1563T>A (p.Tyr521Ter)
c.1695T>A (p.Tyr565Ter)
c.1515T>A (p.Tyr505Ter)
c.1452T>A (p.Tyr484Ter)
c.1296T>A (p.Tyr432Ter)
c.1227T>A (p.Tyr409Ter)
 gnomAD v4
6g.33174548_33174551delinsTGATGGGTCCA2695206145COL11A2c.979_982delinsGACCCATCA
c.2406_2409delinsGACCCATCA (p.Tyr803ThrfsTer13)
c.2085_2088delinsGACCCATCA (p.Tyr696ThrfsTer13)
c.2148_2151delinsGACCCATCA (p.Tyr717ThrfsTer13)
n.272+2458_272+2461delinsGACCCATCA
c.1560_1563delinsGACCCATCA (p.Tyr521ThrfsTer13)
c.1692_1695delinsGACCCATCA (p.Tyr565ThrfsTer13)
c.1512_1515delinsGACCCATCA (p.Tyr505ThrfsTer13)
c.1449_1452delinsGACCCATCA (p.Tyr484ThrfsTer13)
c.1293_1296delinsGACCCATCA (p.Tyr432ThrfsTer13)
c.1224_1227delinsGACCCATCA (p.Tyr409ThrfsTer13)
6g.33174549T>ACA363644236COL11A2c.981A>T
c.2408A>T (p.Tyr803Phe)
c.2087A>T (p.Tyr696Phe)
c.2150A>T (p.Tyr717Phe)
n.272+2460A>T
c.1562A>T (p.Tyr521Phe)
c.1694A>T (p.Tyr565Phe)
c.1514A>T (p.Tyr505Phe)
c.1451A>T (p.Tyr484Phe)
c.1295A>T (p.Tyr432Phe)
c.1226A>T (p.Tyr409Phe)
6g.33174549T>CCA363644237COL11A2c.981A>G
c.2408A>G (p.Tyr803Cys)
c.2087A>G (p.Tyr696Cys)
c.2150A>G (p.Tyr717Cys)
n.272+2460A>G
c.1562A>G (p.Tyr521Cys)
c.1694A>G (p.Tyr565Cys)
c.1514A>G (p.Tyr505Cys)
c.1451A>G (p.Tyr484Cys)
c.1295A>G (p.Tyr432Cys)
c.1226A>G (p.Tyr409Cys)
 ClinVar dbSNP gnomAD v4
6g.33174549T>GCA363644240COL11A2c.981A>C
c.2408A>C (p.Tyr803Ser)
c.2087A>C (p.Tyr696Ser)
c.2150A>C (p.Tyr717Ser)
n.272+2460A>C
c.1562A>C (p.Tyr521Ser)
c.1694A>C (p.Tyr565Ser)
c.1514A>C (p.Tyr505Ser)
c.1451A>C (p.Tyr484Ser)
c.1295A>C (p.Tyr432Ser)
c.1226A>C (p.Tyr409Ser)
6g.33174549T=CA1619898441COL11A2c.981A=
c.2408A= (p.Tyr803=)
c.2087A= (p.Tyr696=)
c.2150A= (p.Tyr717=)
n.272+2460A=
c.1562A= (p.Tyr521=)
c.1694A= (p.Tyr565=)
c.1514A= (p.Tyr505=)
c.1451A= (p.Tyr484=)
c.1295A= (p.Tyr432=)
c.1226A= (p.Tyr409=)
6g.33174550A>CCA363644245COL11A2c.980T>G
c.2407T>G (p.Tyr803Asp)
c.2086T>G (p.Tyr696Asp)
c.2149T>G (p.Tyr717Asp)
n.272+2459T>G
c.1561T>G (p.Tyr521Asp)
c.1693T>G (p.Tyr565Asp)
c.1513T>G (p.Tyr505Asp)
c.1450T>G (p.Tyr484Asp)
c.1294T>G (p.Tyr432Asp)
c.1225T>G (p.Tyr409Asp)
6g.33174550A>GCA363644248COL11A2c.980T>C
c.2407T>C (p.Tyr803His)
c.2086T>C (p.Tyr696His)
c.2149T>C (p.Tyr717His)
n.272+2459T>C
c.1561T>C (p.Tyr521His)
c.1693T>C (p.Tyr565His)
c.1513T>C (p.Tyr505His)
c.1450T>C (p.Tyr484His)
c.1294T>C (p.Tyr432His)
c.1225T>C (p.Tyr409His)
 COSMIC
6g.33174550A>TCA363644251COL11A2c.980T>A
c.2407T>A (p.Tyr803Asn)
c.2086T>A (p.Tyr696Asn)
c.2149T>A (p.Tyr717Asn)
n.272+2459T>A
c.1561T>A (p.Tyr521Asn)
c.1693T>A (p.Tyr565Asn)
c.1513T>A (p.Tyr505Asn)
c.1450T>A (p.Tyr484Asn)
c.1294T>A (p.Tyr432Asn)
c.1225T>A (p.Tyr409Asn)
6g.33174551G>ACA449881443COL11A2c.979C>T
c.2406C>T (p.Gly802=)
c.2085C>T (p.Gly695=)
c.2148C>T (p.Gly716=)
n.272+2458C>T
c.1560C>T (p.Gly520=)
c.1692C>T (p.Gly564=)
c.1512C>T (p.Gly504=)
c.1449C>T (p.Gly483=)
c.1293C>T (p.Gly431=)
c.1224C>T (p.Gly408=)
 gnomAD v4
6g.33174551G>CCA449881445COL11A2c.979C>G
c.2406C>G (p.Gly802=)
c.2085C>G (p.Gly695=)
c.2148C>G (p.Gly716=)
n.272+2458C>G
c.1560C>G (p.Gly520=)
c.1692C>G (p.Gly564=)
c.1512C>G (p.Gly504=)
c.1449C>G (p.Gly483=)
c.1293C>G (p.Gly431=)
c.1224C>G (p.Gly408=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33174551G=CA1619898442COL11A2c.979C=
c.2406C= (p.Gly802=)
c.2085C= (p.Gly695=)
c.2148C= (p.Gly716=)
n.272+2458C=
c.1560C= (p.Gly520=)
c.1692C= (p.Gly564=)
c.1512C= (p.Gly504=)
c.1449C= (p.Gly483=)
c.1293C= (p.Gly431=)
c.1224C= (p.Gly408=)
6g.33174551G>TCA449881446COL11A2c.979C>A
c.2406C>A (p.Gly802=)
c.2085C>A (p.Gly695=)
c.2148C>A (p.Gly716=)
n.272+2458C>A
c.1560C>A (p.Gly520=)
c.1692C>A (p.Gly564=)
c.1512C>A (p.Gly504=)
c.1449C>A (p.Gly483=)
c.1293C>A (p.Gly431=)
c.1224C>A (p.Gly408=)
6g.33174552C>ACA363644257COL11A2c.978G>T
c.2405G>T (p.Gly802Val)
c.2084G>T (p.Gly695Val)
c.2147G>T (p.Gly716Val)
n.272+2457G>T
c.1559G>T (p.Gly520Val)
c.1691G>T (p.Gly564Val)
c.1511G>T (p.Gly504Val)
c.1448G>T (p.Gly483Val)
c.1292G>T (p.Gly431Val)
c.1223G>T (p.Gly408Val)
6g.33174552C>GCA363644261COL11A2c.978G>C
c.2405G>C (p.Gly802Ala)
c.2084G>C (p.Gly695Ala)
c.2147G>C (p.Gly716Ala)
n.272+2457G>C
c.1559G>C (p.Gly520Ala)
c.1691G>C (p.Gly564Ala)
c.1511G>C (p.Gly504Ala)
c.1448G>C (p.Gly483Ala)
c.1292G>C (p.Gly431Ala)
c.1223G>C (p.Gly408Ala)
6g.33174552C>TCA363644270COL11A2c.978G>A
c.2405G>A (p.Gly802Asp)
c.2084G>A (p.Gly695Asp)
c.2147G>A (p.Gly716Asp)
n.272+2457G>A
c.1559G>A (p.Gly520Asp)
c.1691G>A (p.Gly564Asp)
c.1511G>A (p.Gly504Asp)
c.1448G>A (p.Gly483Asp)
c.1292G>A (p.Gly431Asp)
c.1223G>A (p.Gly408Asp)
6g.33174553C>ACA363644274COL11A2c.977G>T
c.2404G>T (p.Gly802Cys)
c.2083G>T (p.Gly695Cys)
c.2146G>T (p.Gly716Cys)
n.272+2456G>T
c.1558G>T (p.Gly520Cys)
c.1690G>T (p.Gly564Cys)
c.1510G>T (p.Gly504Cys)
c.1447G>T (p.Gly483Cys)
c.1291G>T (p.Gly431Cys)
c.1222G>T (p.Gly408Cys)
6g.33174553C>GCA363644278COL11A2c.977G>C
c.2404G>C (p.Gly802Arg)
c.2083G>C (p.Gly695Arg)
c.2146G>C (p.Gly716Arg)
n.272+2456G>C
c.1558G>C (p.Gly520Arg)
c.1690G>C (p.Gly564Arg)
c.1510G>C (p.Gly504Arg)
c.1447G>C (p.Gly483Arg)
c.1291G>C (p.Gly431Arg)
c.1222G>C (p.Gly408Arg)
6g.33174553C>TCA363644279COL11A2c.977G>A
c.2404G>A (p.Gly802Ser)
c.2083G>A (p.Gly695Ser)
c.2146G>A (p.Gly716Ser)
n.272+2456G>A
c.1558G>A (p.Gly520Ser)
c.1690G>A (p.Gly564Ser)
c.1510G>A (p.Gly504Ser)
c.1447G>A (p.Gly483Ser)
c.1291G>A (p.Gly431Ser)
c.1222G>A (p.Gly408Ser)
6g.33174554A=CA1619898443COL11A2c.976T=
c.2403T= (p.Pro801=)
c.2082T= (p.Pro694=)
c.2145T= (p.Pro715=)
n.272+2455T=
c.1557T= (p.Pro519=)
c.1689T= (p.Pro563=)
c.1509T= (p.Pro503=)
c.1446T= (p.Pro482=)
c.1290T= (p.Pro430=)
c.1221T= (p.Pro407=)
6g.33174554A>CCA449881448COL11A2c.976T>G
c.2403T>G (p.Pro801=)
c.2082T>G (p.Pro694=)
c.2145T>G (p.Pro715=)
n.272+2455T>G
c.1557T>G (p.Pro519=)
c.1689T>G (p.Pro563=)
c.1509T>G (p.Pro503=)
c.1446T>G (p.Pro482=)
c.1290T>G (p.Pro430=)
c.1221T>G (p.Pro407=)
6g.33174554A>GCA449881449COL11A2c.976T>C
c.2403T>C (p.Pro801=)
c.2082T>C (p.Pro694=)
c.2145T>C (p.Pro715=)
n.272+2455T>C
c.1557T>C (p.Pro519=)
c.1689T>C (p.Pro563=)
c.1509T>C (p.Pro503=)
c.1446T>C (p.Pro482=)
c.1290T>C (p.Pro430=)
c.1221T>C (p.Pro407=)
 dbSNP gnomAD v3 gnomAD v4
6g.33174554A>TCA449881450COL11A2c.976T>A
c.2403T>A (p.Pro801=)
c.2082T>A (p.Pro694=)
c.2145T>A (p.Pro715=)
n.272+2455T>A
c.1557T>A (p.Pro519=)
c.1689T>A (p.Pro563=)
c.1509T>A (p.Pro503=)
c.1446T>A (p.Pro482=)
c.1290T>A (p.Pro430=)
c.1221T>A (p.Pro407=)
6g.33174555G>ACA363644280COL11A2c.975C>T
c.2402C>T (p.Pro801Leu)
c.2081C>T (p.Pro694Leu)
c.2144C>T (p.Pro715Leu)
n.272+2454C>T
c.1556C>T (p.Pro519Leu)
c.1688C>T (p.Pro563Leu)
c.1508C>T (p.Pro503Leu)
c.1445C>T (p.Pro482Leu)
c.1289C>T (p.Pro430Leu)
c.1220C>T (p.Pro407Leu)
6g.33174555G>CCA363644285COL11A2c.975C>G
c.2402C>G (p.Pro801Arg)
c.2081C>G (p.Pro694Arg)
c.2144C>G (p.Pro715Arg)
n.272+2454C>G
c.1556C>G (p.Pro519Arg)
c.1688C>G (p.Pro563Arg)
c.1508C>G (p.Pro503Arg)
c.1445C>G (p.Pro482Arg)
c.1289C>G (p.Pro430Arg)
c.1220C>G (p.Pro407Arg)

Number of alleles fetched