Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.23338407G>ACA483162053SACSc.5469C>T (p.Cys1823=)
c.2186-8923C>T (p.=)
c.2431+3038C>T (p.=)
c.3219C>T (p.Cys1073=)
n.1058-8923C>T (p.=)
n.2129+3038C>T
c.5028C>T (p.Cys1676=)
c.5496C>T (p.Cys1832=)
c.5520C>T (p.Cys1840=)
c.5487C>T (p.Cys1829=)
c.5460C>T (p.Cys1820=)
13g.23338407G>CCA387525600SACSc.5469C>G (p.Cys1823Trp)
c.2186-8923C>G (p.=)
c.2431+3038C>G (p.=)
c.3219C>G (p.Cys1073Trp)
n.1058-8923C>G (p.=)
n.2129+3038C>G
c.5028C>G (p.Cys1676Trp)
c.5496C>G (p.Cys1832Trp)
c.5520C>G (p.Cys1840Trp)
c.5487C>G (p.Cys1829Trp)
c.5460C>G (p.Cys1820Trp)
13g.23338407G=CA2078629266SACSc.5469C= (p.Cys1823=)
c.2186-8923C= (p.=)
c.2431+3038C= (p.=)
c.3219C= (p.Cys1073=)
n.1058-8923C= (p.=)
n.2129+3038C=
c.5028C= (p.Cys1676=)
c.5496C= (p.Cys1832=)
c.5520C= (p.Cys1840=)
c.5487C= (p.Cys1829=)
c.5460C= (p.Cys1820=)
13g.23338407G>TCA16041631SACSc.5469C>A (p.Cys1823Ter)
c.2186-8923C>A (p.=)
c.2431+3038C>A (p.=)
c.3219C>A (p.Cys1073Ter)
n.1058-8923C>A (p.=)
n.2129+3038C>A
c.5028C>A (p.Cys1676Ter)
c.5496C>A (p.Cys1832Ter)
c.5520C>A (p.Cys1840Ter)
c.5487C>A (p.Cys1829Ter)
c.5460C>A (p.Cys1820Ter)
ClinVar dbSNP
13g.23338408C>ACA246659103SACSc.5468G>T (p.Cys1823Phe)
c.2186-8924G>T (p.=)
c.2431+3037G>T (p.=)
c.3218G>T (p.Cys1073Phe)
n.1058-8924G>T (p.=)
n.2129+3037G>T
c.5027G>T (p.Cys1676Phe)
c.5495G>T (p.Cys1832Phe)
c.5519G>T (p.Cys1840Phe)
c.5486G>T (p.Cys1829Phe)
c.5459G>T (p.Cys1820Phe)
dbSNP
13g.23338408C=CA2078629274SACSc.5468G= (p.Cys1823=)
c.2186-8924G= (p.=)
c.2431+3037G= (p.=)
c.3218G= (p.Cys1073=)
n.1058-8924G= (p.=)
n.2129+3037G=
c.5027G= (p.Cys1676=)
c.5495G= (p.Cys1832=)
c.5519G= (p.Cys1840=)
c.5486G= (p.Cys1829=)
c.5459G= (p.Cys1820=)
13g.23338408C>GCA387525601SACSc.5468G>C (p.Cys1823Ser)
c.2186-8924G>C (p.=)
c.2431+3037G>C (p.=)
c.3218G>C (p.Cys1073Ser)
n.1058-8924G>C (p.=)
n.2129+3037G>C
c.5027G>C (p.Cys1676Ser)
c.5495G>C (p.Cys1832Ser)
c.5519G>C (p.Cys1840Ser)
c.5486G>C (p.Cys1829Ser)
c.5459G>C (p.Cys1820Ser)
13g.23338408C>TCA387525602SACSc.5468G>A (p.Cys1823Tyr)
c.2186-8924G>A (p.=)
c.2431+3037G>A (p.=)
c.3218G>A (p.Cys1073Tyr)
n.1058-8924G>A (p.=)
n.2129+3037G>A
c.5027G>A (p.Cys1676Tyr)
c.5495G>A (p.Cys1832Tyr)
c.5519G>A (p.Cys1840Tyr)
c.5486G>A (p.Cys1829Tyr)
c.5459G>A (p.Cys1820Tyr)
13g.23338409A>CCA387525604SACSc.5467T>G (p.Cys1823Gly)
c.2186-8925T>G (p.=)
c.2431+3036T>G (p.=)
c.3217T>G (p.Cys1073Gly)
n.1058-8925T>G (p.=)
n.2129+3036T>G
c.5026T>G (p.Cys1676Gly)
c.5494T>G (p.Cys1832Gly)
c.5518T>G (p.Cys1840Gly)
c.5485T>G (p.Cys1829Gly)
c.5458T>G (p.Cys1820Gly)
13g.23338409A>GCA387525605SACSc.5467T>C (p.Cys1823Arg)
c.2186-8925T>C (p.=)
c.2431+3036T>C (p.=)
c.3217T>C (p.Cys1073Arg)
n.1058-8925T>C (p.=)
n.2129+3036T>C
c.5026T>C (p.Cys1676Arg)
c.5494T>C (p.Cys1832Arg)
c.5518T>C (p.Cys1840Arg)
c.5485T>C (p.Cys1829Arg)
c.5458T>C (p.Cys1820Arg)
13g.23338409A>TCA387525603SACSc.5467T>A (p.Cys1823Ser)
c.2186-8925T>A (p.=)
c.2431+3036T>A (p.=)
c.3217T>A (p.Cys1073Ser)
n.1058-8925T>A (p.=)
n.2129+3036T>A
c.5026T>A (p.Cys1676Ser)
c.5494T>A (p.Cys1832Ser)
c.5518T>A (p.Cys1840Ser)
c.5485T>A (p.Cys1829Ser)
c.5458T>A (p.Cys1820Ser)
13g.23338410A=CA2078629279SACSc.5466T= (p.Thr1822=)
c.2186-8926T= (p.=)
c.2431+3035T= (p.=)
c.3216T= (p.Thr1072=)
n.1058-8926T= (p.=)
n.2129+3035T=
c.5025T= (p.Thr1675=)
c.5493T= (p.Thr1831=)
c.5517T= (p.Thr1839=)
c.5484T= (p.Thr1828=)
c.5457T= (p.Thr1819=)
13g.23338410A>CCA483162056SACSc.5466T>G (p.Thr1822=)
c.2186-8926T>G (p.=)
c.2431+3035T>G (p.=)
c.3216T>G (p.Thr1072=)
n.1058-8926T>G (p.=)
n.2129+3035T>G
c.5025T>G (p.Thr1675=)
c.5493T>G (p.Thr1831=)
c.5517T>G (p.Thr1839=)
c.5484T>G (p.Thr1828=)
c.5457T>G (p.Thr1819=)
13g.23338410A>GCA6911245SACSc.5466T>C (p.Thr1822=)
c.2186-8926T>C (p.=)
c.2431+3035T>C (p.=)
c.3216T>C (p.Thr1072=)
n.1058-8926T>C (p.=)
n.2129+3035T>C
c.5025T>C (p.Thr1675=)
c.5493T>C (p.Thr1831=)
c.5517T>C (p.Thr1839=)
c.5484T>C (p.Thr1828=)
c.5457T>C (p.Thr1819=)
ClinVar dbSNP ExAC gnomAD
13g.23338410A>TCA483162057SACSc.5466T>A (p.Thr1822=)
c.2186-8926T>A (p.=)
c.2431+3035T>A (p.=)
c.3216T>A (p.Thr1072=)
n.1058-8926T>A (p.=)
n.2129+3035T>A
c.5025T>A (p.Thr1675=)
c.5493T>A (p.Thr1831=)
c.5517T>A (p.Thr1839=)
c.5484T>A (p.Thr1828=)
c.5457T>A (p.Thr1819=)
13g.23338411G>ACA387525606SACSc.5465C>T (p.Thr1822Ile)
c.2186-8927C>T (p.=)
c.2431+3034C>T (p.=)
c.3215C>T (p.Thr1072Ile)
n.1058-8927C>T (p.=)
n.2129+3034C>T
c.5024C>T (p.Thr1675Ile)
c.5492C>T (p.Thr1831Ile)
c.5516C>T (p.Thr1839Ile)
c.5483C>T (p.Thr1828Ile)
c.5456C>T (p.Thr1819Ile)
13g.23338411G>CCA387525607SACSc.5465C>G (p.Thr1822Ser)
c.2186-8927C>G (p.=)
c.2431+3034C>G (p.=)
c.3215C>G (p.Thr1072Ser)
n.1058-8927C>G (p.=)
n.2129+3034C>G
c.5024C>G (p.Thr1675Ser)
c.5492C>G (p.Thr1831Ser)
c.5516C>G (p.Thr1839Ser)
c.5483C>G (p.Thr1828Ser)
c.5456C>G (p.Thr1819Ser)
13g.23338411G>TCA387525608SACSc.5465C>A (p.Thr1822Asn)
c.2186-8927C>A (p.=)
c.2431+3034C>A (p.=)
c.3215C>A (p.Thr1072Asn)
n.1058-8927C>A (p.=)
n.2129+3034C>A
c.5024C>A (p.Thr1675Asn)
c.5492C>A (p.Thr1831Asn)
c.5516C>A (p.Thr1839Asn)
c.5483C>A (p.Thr1828Asn)
c.5456C>A (p.Thr1819Asn)
13g.23338412T>ACA387525609SACSc.5464A>T (p.Thr1822Ser)
c.2186-8928A>T (p.=)
c.2431+3033A>T (p.=)
c.3214A>T (p.Thr1072Ser)
n.1058-8928A>T (p.=)
n.2129+3033A>T
c.5023A>T (p.Thr1675Ser)
c.5491A>T (p.Thr1831Ser)
c.5515A>T (p.Thr1839Ser)
c.5482A>T (p.Thr1828Ser)
c.5455A>T (p.Thr1819Ser)
13g.23338412T>CCA387525610SACSc.5464A>G (p.Thr1822Ala)
c.2186-8928A>G (p.=)
c.2431+3033A>G (p.=)
c.3214A>G (p.Thr1072Ala)
n.1058-8928A>G (p.=)
n.2129+3033A>G
c.5023A>G (p.Thr1675Ala)
c.5491A>G (p.Thr1831Ala)
c.5515A>G (p.Thr1839Ala)
c.5482A>G (p.Thr1828Ala)
c.5455A>G (p.Thr1819Ala)
COSMIC COSMIC
13g.23338412T>GCA387525611SACSc.5464A>C (p.Thr1822Pro)
c.2186-8928A>C (p.=)
c.2431+3033A>C (p.=)
c.3214A>C (p.Thr1072Pro)
n.1058-8928A>C (p.=)
n.2129+3033A>C
c.5023A>C (p.Thr1675Pro)
c.5491A>C (p.Thr1831Pro)
c.5515A>C (p.Thr1839Pro)
c.5482A>C (p.Thr1828Pro)
c.5455A>C (p.Thr1819Pro)
13g.23338412T=CA2078629285SACSc.5464A= (p.Thr1822=)
c.2186-8928A= (p.=)
c.2431+3033A= (p.=)
c.3214A= (p.Thr1072=)
n.1058-8928A= (p.=)
n.2129+3033A=
c.5023A= (p.Thr1675=)
c.5491A= (p.Thr1831=)
c.5515A= (p.Thr1839=)
c.5482A= (p.Thr1828=)
c.5455A= (p.Thr1819=)
13g.23338413A>CCA387525612SACSc.5463T>G (p.Cys1821Trp)
c.2186-8929T>G (p.=)
c.2431+3032T>G (p.=)
c.3213T>G (p.Cys1071Trp)
n.1058-8929T>G (p.=)
n.2129+3032T>G
c.5022T>G (p.Cys1674Trp)
c.5490T>G (p.Cys1830Trp)
c.5514T>G (p.Cys1838Trp)
c.5481T>G (p.Cys1827Trp)
c.5454T>G (p.Cys1818Trp)
13g.23338413A>GCA483162060SACSc.5463T>C (p.Cys1821=)
c.2186-8929T>C (p.=)
c.2431+3032T>C (p.=)
c.3213T>C (p.Cys1071=)
n.1058-8929T>C (p.=)
n.2129+3032T>C
c.5022T>C (p.Cys1674=)
c.5490T>C (p.Cys1830=)
c.5514T>C (p.Cys1838=)
c.5481T>C (p.Cys1827=)
c.5454T>C (p.Cys1818=)
13g.23338413A>TCA387525613SACSc.5463T>A (p.Cys1821Ter)
c.2186-8929T>A (p.=)
c.2431+3032T>A (p.=)
c.3213T>A (p.Cys1071Ter)
n.1058-8929T>A (p.=)
n.2129+3032T>A
c.5022T>A (p.Cys1674Ter)
c.5490T>A (p.Cys1830Ter)
c.5514T>A (p.Cys1838Ter)
c.5481T>A (p.Cys1827Ter)
c.5454T>A (p.Cys1818Ter)
13g.23338414C>ACA387525614SACSc.5462G>T (p.Cys1821Phe)
c.2186-8930G>T (p.=)
c.2431+3031G>T (p.=)
c.3212G>T (p.Cys1071Phe)
n.1058-8930G>T (p.=)
n.2129+3031G>T
c.5021G>T (p.Cys1674Phe)
c.5489G>T (p.Cys1830Phe)
c.5513G>T (p.Cys1838Phe)
c.5480G>T (p.Cys1827Phe)
c.5453G>T (p.Cys1818Phe)
13g.23338414C=CA2078629289SACSc.5462G= (p.Cys1821=)
c.2186-8930G= (p.=)
c.2431+3031G= (p.=)
c.3212G= (p.Cys1071=)
n.1058-8930G= (p.=)
n.2129+3031G=
c.5021G= (p.Cys1674=)
c.5489G= (p.Cys1830=)
c.5513G= (p.Cys1838=)
c.5480G= (p.Cys1827=)
c.5453G= (p.Cys1818=)
13g.23338414C>GCA387525615SACSc.5462G>C (p.Cys1821Ser)
c.2186-8930G>C (p.=)
c.2431+3031G>C (p.=)
c.3212G>C (p.Cys1071Ser)
n.1058-8930G>C (p.=)
n.2129+3031G>C
c.5021G>C (p.Cys1674Ser)
c.5489G>C (p.Cys1830Ser)
c.5513G>C (p.Cys1838Ser)
c.5480G>C (p.Cys1827Ser)
c.5453G>C (p.Cys1818Ser)
13g.23338414C>TCA6911246SACSc.5462G>A (p.Cys1821Tyr)
c.2186-8930G>A (p.=)
c.2431+3031G>A (p.=)
c.3212G>A (p.Cys1071Tyr)
n.1058-8930G>A (p.=)
n.2129+3031G>A
c.5021G>A (p.Cys1674Tyr)
c.5489G>A (p.Cys1830Tyr)
c.5513G>A (p.Cys1838Tyr)
c.5480G>A (p.Cys1827Tyr)
c.5453G>A (p.Cys1818Tyr)
dbSNP ExAC gnomAD
13g.23338415A=CA2078629294SACSc.5461T= (p.Cys1821=)
c.2186-8931T= (p.=)
c.2431+3030T= (p.=)
c.3211T= (p.Cys1071=)
n.1058-8931T= (p.=)
n.2129+3030T=
c.5020T= (p.Cys1674=)
c.5488T= (p.Cys1830=)
c.5512T= (p.Cys1838=)
c.5479T= (p.Cys1827=)
c.5452T= (p.Cys1818=)
13g.23338415A>CCA387525616SACSc.5461T>G (p.Cys1821Gly)
c.2186-8931T>G (p.=)
c.2431+3030T>G (p.=)
c.3211T>G (p.Cys1071Gly)
n.1058-8931T>G (p.=)
n.2129+3030T>G
c.5020T>G (p.Cys1674Gly)
c.5488T>G (p.Cys1830Gly)
c.5512T>G (p.Cys1838Gly)
c.5479T>G (p.Cys1827Gly)
c.5452T>G (p.Cys1818Gly)
13g.23338415A>GCA6911247SACSc.5461T>C (p.Cys1821Arg)
c.2186-8931T>C (p.=)
c.2431+3030T>C (p.=)
c.3211T>C (p.Cys1071Arg)
n.1058-8931T>C (p.=)
n.2129+3030T>C
c.5020T>C (p.Cys1674Arg)
c.5488T>C (p.Cys1830Arg)
c.5512T>C (p.Cys1838Arg)
c.5479T>C (p.Cys1827Arg)
c.5452T>C (p.Cys1818Arg)
ClinVar dbSNP ExAC gnomAD
13g.23338415A>TCA387525617SACSc.5461T>A (p.Cys1821Ser)
c.2186-8931T>A (p.=)
c.2431+3030T>A (p.=)
c.3211T>A (p.Cys1071Ser)
n.1058-8931T>A (p.=)
n.2129+3030T>A
c.5020T>A (p.Cys1674Ser)
c.5488T>A (p.Cys1830Ser)
c.5512T>A (p.Cys1838Ser)
c.5479T>A (p.Cys1827Ser)
c.5452T>A (p.Cys1818Ser)
13g.23338416C>ACA483162063SACSc.5460G>T (p.Leu1820=)
c.2186-8932G>T (p.=)
c.2431+3029G>T (p.=)
c.3210G>T (p.Leu1070=)
n.1058-8932G>T (p.=)
n.2129+3029G>T
c.5019G>T (p.Leu1673=)
c.5487G>T (p.Leu1829=)
c.5511G>T (p.Leu1837=)
c.5478G>T (p.Leu1826=)
c.5451G>T (p.Leu1817=)
13g.23338416C=CA2078629301SACSc.5460G= (p.Leu1820=)
c.2186-8932G= (p.=)
c.2431+3029G= (p.=)
c.3210G= (p.Leu1070=)
n.1058-8932G= (p.=)
n.2129+3029G=
c.5019G= (p.Leu1673=)
c.5487G= (p.Leu1829=)
c.5511G= (p.Leu1837=)
c.5478G= (p.Leu1826=)
c.5451G= (p.Leu1817=)
13g.23338416C>GCA483162064SACSc.5460G>C (p.Leu1820=)
c.2186-8932G>C (p.=)
c.2431+3029G>C (p.=)
c.3210G>C (p.Leu1070=)
n.1058-8932G>C (p.=)
n.2129+3029G>C
c.5019G>C (p.Leu1673=)
c.5487G>C (p.Leu1829=)
c.5511G>C (p.Leu1837=)
c.5478G>C (p.Leu1826=)
c.5451G>C (p.Leu1817=)
gnomAD
13g.23338416C>TCA483162065SACSc.5460G>A (p.Leu1820=)
c.2186-8932G>A (p.=)
c.2431+3029G>A (p.=)
c.3210G>A (p.Leu1070=)
n.1058-8932G>A (p.=)
n.2129+3029G>A
c.5019G>A (p.Leu1673=)
c.5487G>A (p.Leu1829=)
c.5511G>A (p.Leu1837=)
c.5478G>A (p.Leu1826=)
c.5451G>A (p.Leu1817=)
13g.23338417A>CCA387525618SACSc.5459T>G (p.Leu1820Arg)
c.2186-8933T>G (p.=)
c.2431+3028T>G (p.=)
c.3209T>G (p.Leu1070Arg)
n.1058-8933T>G (p.=)
n.2129+3028T>G
c.5018T>G (p.Leu1673Arg)
c.5486T>G (p.Leu1829Arg)
c.5510T>G (p.Leu1837Arg)
c.5477T>G (p.Leu1826Arg)
c.5450T>G (p.Leu1817Arg)
13g.23338417A>GCA387525620SACSc.5459T>C (p.Leu1820Pro)
c.2186-8933T>C (p.=)
c.2431+3028T>C (p.=)
c.3209T>C (p.Leu1070Pro)
n.1058-8933T>C (p.=)
n.2129+3028T>C
c.5018T>C (p.Leu1673Pro)
c.5486T>C (p.Leu1829Pro)
c.5510T>C (p.Leu1837Pro)
c.5477T>C (p.Leu1826Pro)
c.5450T>C (p.Leu1817Pro)
13g.23338417A>TCA387525619SACSc.5459T>A (p.Leu1820Gln)
c.2186-8933T>A (p.=)
c.2431+3028T>A (p.=)
c.3209T>A (p.Leu1070Gln)
n.1058-8933T>A (p.=)
n.2129+3028T>A
c.5018T>A (p.Leu1673Gln)
c.5486T>A (p.Leu1829Gln)
c.5510T>A (p.Leu1837Gln)
c.5477T>A (p.Leu1826Gln)
c.5450T>A (p.Leu1817Gln)
13g.23338418G>ACA6911248SACSc.5458C>T (p.Leu1820=)
c.2186-8934C>T (p.=)
c.2431+3027C>T (p.=)
c.3208C>T (p.Leu1070=)
n.1058-8934C>T (p.=)
n.2129+3027C>T
c.5017C>T (p.Leu1673=)
c.5485C>T (p.Leu1829=)
c.5509C>T (p.Leu1837=)
c.5476C>T (p.Leu1826=)
c.5449C>T (p.Leu1817=)
dbSNP ExAC gnomAD
13g.23338418G>CCA387525621SACSc.5458C>G (p.Leu1820Val)
c.2186-8934C>G (p.=)
c.2431+3027C>G (p.=)
c.3208C>G (p.Leu1070Val)
n.1058-8934C>G (p.=)
n.2129+3027C>G
c.5017C>G (p.Leu1673Val)
c.5485C>G (p.Leu1829Val)
c.5509C>G (p.Leu1837Val)
c.5476C>G (p.Leu1826Val)
c.5449C>G (p.Leu1817Val)
13g.23338418G=CA2078629305SACSc.5458C= (p.Leu1820=)
c.2186-8934C= (p.=)
c.2431+3027C= (p.=)
c.3208C= (p.Leu1070=)
n.1058-8934C= (p.=)
n.2129+3027C=
c.5017C= (p.Leu1673=)
c.5485C= (p.Leu1829=)
c.5509C= (p.Leu1837=)
c.5476C= (p.Leu1826=)
c.5449C= (p.Leu1817=)
13g.23338418G>TCA387525622SACSc.5458C>A (p.Leu1820Met)
c.2186-8934C>A (p.=)
c.2431+3027C>A (p.=)
c.3208C>A (p.Leu1070Met)
n.1058-8934C>A (p.=)
n.2129+3027C>A
c.5017C>A (p.Leu1673Met)
c.5485C>A (p.Leu1829Met)
c.5509C>A (p.Leu1837Met)
c.5476C>A (p.Leu1826Met)
c.5449C>A (p.Leu1817Met)
13g.23338419A>CCA483162066SACSc.5457T>G (p.Leu1819=)
c.2186-8935T>G (p.=)
c.2431+3026T>G (p.=)
c.3207T>G (p.Leu1069=)
n.1058-8935T>G (p.=)
n.2129+3026T>G
c.5016T>G (p.Leu1672=)
c.5484T>G (p.Leu1828=)
c.5508T>G (p.Leu1836=)
c.5475T>G (p.Leu1825=)
c.5448T>G (p.Leu1816=)
13g.23338419A>GCA483162068SACSc.5457T>C (p.Leu1819=)
c.2186-8935T>C (p.=)
c.2431+3026T>C (p.=)
c.3207T>C (p.Leu1069=)
n.1058-8935T>C (p.=)
n.2129+3026T>C
c.5016T>C (p.Leu1672=)
c.5484T>C (p.Leu1828=)
c.5508T>C (p.Leu1836=)
c.5475T>C (p.Leu1825=)
c.5448T>C (p.Leu1816=)
13g.23338419A>TCA483162067SACSc.5457T>A (p.Leu1819=)
c.2186-8935T>A (p.=)
c.2431+3026T>A (p.=)
c.3207T>A (p.Leu1069=)
n.1058-8935T>A (p.=)
n.2129+3026T>A
c.5016T>A (p.Leu1672=)
c.5484T>A (p.Leu1828=)
c.5508T>A (p.Leu1836=)
c.5475T>A (p.Leu1825=)
c.5448T>A (p.Leu1816=)
13g.23338420A>CCA387525623SACSc.5456T>G (p.Leu1819Arg)
c.2186-8936T>G (p.=)
c.2431+3025T>G (p.=)
c.3206T>G (p.Leu1069Arg)
n.1058-8936T>G (p.=)
n.2129+3025T>G
c.5015T>G (p.Leu1672Arg)
c.5483T>G (p.Leu1828Arg)
c.5507T>G (p.Leu1836Arg)
c.5474T>G (p.Leu1825Arg)
c.5447T>G (p.Leu1816Arg)
13g.23338420A>GCA387525624SACSc.5456T>C (p.Leu1819Pro)
c.2186-8936T>C (p.=)
c.2431+3025T>C (p.=)
c.3206T>C (p.Leu1069Pro)
n.1058-8936T>C (p.=)
n.2129+3025T>C
c.5015T>C (p.Leu1672Pro)
c.5483T>C (p.Leu1828Pro)
c.5507T>C (p.Leu1836Pro)
c.5474T>C (p.Leu1825Pro)
c.5447T>C (p.Leu1816Pro)
13g.23338420A>TCA387525625SACSc.5456T>A (p.Leu1819His)
c.2186-8936T>A (p.=)
c.2431+3025T>A (p.=)
c.3206T>A (p.Leu1069His)
n.1058-8936T>A (p.=)
n.2129+3025T>A
c.5015T>A (p.Leu1672His)
c.5483T>A (p.Leu1828His)
c.5507T>A (p.Leu1836His)
c.5474T>A (p.Leu1825His)
c.5447T>A (p.Leu1816His)

Number of alleles fetched