Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.128617711A>CCA375076236SPTAN1c.5465A>C (p.Lys1822Thr)
c.5429A>C (p.Lys1810Thr)
c.4892A>C (p.Lys1631Thr)
c.3052A>C
c.1039A>C
n.657A>C
c.5354A>C (p.Lys1785Thr)
c.5414A>C (p.Lys1805Thr)
c.5369A>C (p.Lys1790Thr)
c.5450A>C (p.Lys1817Thr)
c.5405A>C (p.Lys1802Thr)
c.5390A>C (p.Lys1797Thr)
9g.128617711A>GCA375076232SPTAN1c.5465A>G (p.Lys1822Arg)
c.5429A>G (p.Lys1810Arg)
c.4892A>G (p.Lys1631Arg)
c.3052A>G
c.1039A>G
n.657A>G
c.5354A>G (p.Lys1785Arg)
c.5414A>G (p.Lys1805Arg)
c.5369A>G (p.Lys1790Arg)
c.5450A>G (p.Lys1817Arg)
c.5405A>G (p.Lys1802Arg)
c.5390A>G (p.Lys1797Arg)
9g.128617711A>TCA375076233SPTAN1c.5465A>T (p.Lys1822Met)
c.5429A>T (p.Lys1810Met)
c.4892A>T (p.Lys1631Met)
c.3052A>T
c.1039A>T
n.657A>T
c.5354A>T (p.Lys1785Met)
c.5414A>T (p.Lys1805Met)
c.5369A>T (p.Lys1790Met)
c.5450A>T (p.Lys1817Met)
c.5405A>T (p.Lys1802Met)
c.5390A>T (p.Lys1797Met)
9g.128617712G>ACA467303782SPTAN1c.5466G>A (p.Lys1822=)
c.5430G>A (p.Lys1810=)
c.4893G>A (p.Lys1631=)
c.3053G>A
c.1040G>A
n.658G>A
c.5355G>A (p.Lys1785=)
c.5415G>A (p.Lys1805=)
c.5370G>A (p.Lys1790=)
c.5451G>A (p.Lys1817=)
c.5406G>A (p.Lys1802=)
c.5391G>A (p.Lys1797=)
9g.128617712G>CCA375076240SPTAN1c.5466G>C (p.Lys1822Asn)
c.5430G>C (p.Lys1810Asn)
c.4893G>C (p.Lys1631Asn)
c.3053G>C
c.1040G>C
n.658G>C
c.5355G>C (p.Lys1785Asn)
c.5415G>C (p.Lys1805Asn)
c.5370G>C (p.Lys1790Asn)
c.5451G>C (p.Lys1817Asn)
c.5406G>C (p.Lys1802Asn)
c.5391G>C (p.Lys1797Asn)
9g.128617712G>TCA375076243SPTAN1c.5466G>T (p.Lys1822Asn)
c.5430G>T (p.Lys1810Asn)
c.4893G>T (p.Lys1631Asn)
c.3053G>T
c.1040G>T
n.658G>T
c.5355G>T (p.Lys1785Asn)
c.5415G>T (p.Lys1805Asn)
c.5370G>T (p.Lys1790Asn)
c.5451G>T (p.Lys1817Asn)
c.5406G>T (p.Lys1802Asn)
c.5391G>T (p.Lys1797Asn)
9g.128617713C>ACA375076249SPTAN1c.5467C>A (p.His1823Asn)
c.5431C>A (p.His1811Asn)
c.4894C>A (p.His1632Asn)
c.3054C>A
c.1041C>A
n.659C>A
c.5356C>A (p.His1786Asn)
c.5416C>A (p.His1806Asn)
c.5371C>A (p.His1791Asn)
c.5452C>A (p.His1818Asn)
c.5407C>A (p.His1803Asn)
c.5392C>A (p.His1798Asn)
9g.128617713C>GCA375076254SPTAN1c.5467C>G (p.His1823Asp)
c.5431C>G (p.His1811Asp)
c.4894C>G (p.His1632Asp)
c.3054C>G
c.1041C>G
n.659C>G
c.5356C>G (p.His1786Asp)
c.5416C>G (p.His1806Asp)
c.5371C>G (p.His1791Asp)
c.5452C>G (p.His1818Asp)
c.5407C>G (p.His1803Asp)
c.5392C>G (p.His1798Asp)
9g.128617713C>TCA375076256SPTAN1c.5467C>T (p.His1823Tyr)
c.5431C>T (p.His1811Tyr)
c.4894C>T (p.His1632Tyr)
c.3054C>T
c.1041C>T
n.659C>T
c.5356C>T (p.His1786Tyr)
c.5416C>T (p.His1806Tyr)
c.5371C>T (p.His1791Tyr)
c.5452C>T (p.His1818Tyr)
c.5407C>T (p.His1803Tyr)
c.5392C>T (p.His1798Tyr)
 ClinVar
9g.128617714A>CCA375076261SPTAN1c.5468A>C (p.His1823Pro)
c.5432A>C (p.His1811Pro)
c.4895A>C (p.His1632Pro)
c.3055A>C
c.1042A>C
n.660A>C
c.5357A>C (p.His1786Pro)
c.5417A>C (p.His1806Pro)
c.5372A>C (p.His1791Pro)
c.5453A>C (p.His1818Pro)
c.5408A>C (p.His1803Pro)
c.5393A>C (p.His1798Pro)
9g.128617714A>GCA375076262SPTAN1c.5468A>G (p.His1823Arg)
c.5432A>G (p.His1811Arg)
c.4895A>G (p.His1632Arg)
c.3055A>G
c.1042A>G
n.660A>G
c.5357A>G (p.His1786Arg)
c.5417A>G (p.His1806Arg)
c.5372A>G (p.His1791Arg)
c.5453A>G (p.His1818Arg)
c.5408A>G (p.His1803Arg)
c.5393A>G (p.His1798Arg)
9g.128617714A>TCA375076265SPTAN1c.5468A>T (p.His1823Leu)
c.5432A>T (p.His1811Leu)
c.4895A>T (p.His1632Leu)
c.3055A>T
c.1042A>T
n.660A>T
c.5357A>T (p.His1786Leu)
c.5417A>T (p.His1806Leu)
c.5372A>T (p.His1791Leu)
c.5453A>T (p.His1818Leu)
c.5408A>T (p.His1803Leu)
c.5393A>T (p.His1798Leu)
9g.128617715C>ACA375076268SPTAN1c.5469C>A (p.His1823Gln)
c.5433C>A (p.His1811Gln)
c.4896C>A (p.His1632Gln)
c.3056C>A
c.1043C>A
n.661C>A
c.5358C>A (p.His1786Gln)
c.5418C>A (p.His1806Gln)
c.5373C>A (p.His1791Gln)
c.5454C>A (p.His1818Gln)
c.5409C>A (p.His1803Gln)
c.5394C>A (p.His1798Gln)
 dbSNP
9g.128617715C=CA1880364189SPTAN1c.5469C= (p.His1823=)
c.5433C= (p.His1811=)
c.4896C= (p.His1632=)
c.3056C=
c.1043C=
n.661C=
c.5358C= (p.His1786=)
c.5418C= (p.His1806=)
c.5373C= (p.His1791=)
c.5454C= (p.His1818=)
c.5409C= (p.His1803=)
c.5394C= (p.His1798=)
9g.128617715C>GCA375076269SPTAN1c.5469C>G (p.His1823Gln)
c.5433C>G (p.His1811Gln)
c.4896C>G (p.His1632Gln)
c.3056C>G
c.1043C>G
n.661C>G
c.5358C>G (p.His1786Gln)
c.5418C>G (p.His1806Gln)
c.5373C>G (p.His1791Gln)
c.5454C>G (p.His1818Gln)
c.5409C>G (p.His1803Gln)
c.5394C>G (p.His1798Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.128617715C>TCA5265454SPTAN1c.5469C>T (p.His1823=)
c.5433C>T (p.His1811=)
c.4896C>T (p.His1632=)
c.3056C>T
c.1043C>T
n.661C>T
c.5358C>T (p.His1786=)
c.5418C>T (p.His1806=)
c.5373C>T (p.His1791=)
c.5454C>T (p.His1818=)
c.5409C>T (p.His1803=)
c.5394C>T (p.His1798=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.128617716A>CCA375076287SPTAN1c.5470A>C (p.Lys1824Gln)
c.5434A>C (p.Lys1812Gln)
c.4897A>C (p.Lys1633Gln)
c.3057A>C
c.1044A>C
n.662A>C
c.5359A>C (p.Lys1787Gln)
c.5419A>C (p.Lys1807Gln)
c.5374A>C (p.Lys1792Gln)
c.5455A>C (p.Lys1819Gln)
c.5410A>C (p.Lys1804Gln)
c.5395A>C (p.Lys1799Gln)
9g.128617716A>GCA375076275SPTAN1c.5470A>G (p.Lys1824Glu)
c.5434A>G (p.Lys1812Glu)
c.4897A>G (p.Lys1633Glu)
c.3057A>G
c.1044A>G
n.662A>G
c.5359A>G (p.Lys1787Glu)
c.5419A>G (p.Lys1807Glu)
c.5374A>G (p.Lys1792Glu)
c.5455A>G (p.Lys1819Glu)
c.5410A>G (p.Lys1804Glu)
c.5395A>G (p.Lys1799Glu)
9g.128617716A>TCA375076285SPTAN1c.5470A>T (p.Lys1824Ter)
c.5434A>T (p.Lys1812Ter)
c.4897A>T (p.Lys1633Ter)
c.3057A>T
c.1044A>T
n.662A>T
c.5359A>T (p.Lys1787Ter)
c.5419A>T (p.Lys1807Ter)
c.5374A>T (p.Lys1792Ter)
c.5455A>T (p.Lys1819Ter)
c.5410A>T (p.Lys1804Ter)
c.5395A>T (p.Lys1799Ter)
9g.128617717A>CCA375076291SPTAN1c.5471A>C (p.Lys1824Thr)
c.5435A>C (p.Lys1812Thr)
c.4898A>C (p.Lys1633Thr)
c.3058A>C
c.1045A>C
n.663A>C
c.5360A>C (p.Lys1787Thr)
c.5420A>C (p.Lys1807Thr)
c.5375A>C (p.Lys1792Thr)
c.5456A>C (p.Lys1819Thr)
c.5411A>C (p.Lys1804Thr)
c.5396A>C (p.Lys1799Thr)
9g.128617717A>GCA375076293SPTAN1c.5471A>G (p.Lys1824Arg)
c.5435A>G (p.Lys1812Arg)
c.4898A>G (p.Lys1633Arg)
c.3058A>G
c.1045A>G
n.663A>G
c.5360A>G (p.Lys1787Arg)
c.5420A>G (p.Lys1807Arg)
c.5375A>G (p.Lys1792Arg)
c.5456A>G (p.Lys1819Arg)
c.5411A>G (p.Lys1804Arg)
c.5396A>G (p.Lys1799Arg)
9g.128617717A>TCA375076296SPTAN1c.5471A>T (p.Lys1824Met)
c.5435A>T (p.Lys1812Met)
c.4898A>T (p.Lys1633Met)
c.3058A>T
c.1045A>T
n.663A>T
c.5360A>T (p.Lys1787Met)
c.5420A>T (p.Lys1807Met)
c.5375A>T (p.Lys1792Met)
c.5456A>T (p.Lys1819Met)
c.5411A>T (p.Lys1804Met)
c.5396A>T (p.Lys1799Met)
9g.128617718G>ACA467303783SPTAN1c.5472G>A (p.Lys1824=)
c.5436G>A (p.Lys1812=)
c.4899G>A (p.Lys1633=)
c.3059G>A
c.1046G>A
n.664G>A
c.5361G>A (p.Lys1787=)
c.5421G>A (p.Lys1807=)
c.5376G>A (p.Lys1792=)
c.5457G>A (p.Lys1819=)
c.5412G>A (p.Lys1804=)
c.5397G>A (p.Lys1799=)
9g.128617718G>CCA375076299SPTAN1c.5472G>C (p.Lys1824Asn)
c.5436G>C (p.Lys1812Asn)
c.4899G>C (p.Lys1633Asn)
c.3059G>C
c.1046G>C
n.664G>C
c.5361G>C (p.Lys1787Asn)
c.5421G>C (p.Lys1807Asn)
c.5376G>C (p.Lys1792Asn)
c.5457G>C (p.Lys1819Asn)
c.5412G>C (p.Lys1804Asn)
c.5397G>C (p.Lys1799Asn)
9g.128617718G>TCA375076302SPTAN1c.5472G>T (p.Lys1824Asn)
c.5436G>T (p.Lys1812Asn)
c.4899G>T (p.Lys1633Asn)
c.3059G>T
c.1046G>T
n.664G>T
c.5361G>T (p.Lys1787Asn)
c.5421G>T (p.Lys1807Asn)
c.5376G>T (p.Lys1792Asn)
c.5457G>T (p.Lys1819Asn)
c.5412G>T (p.Lys1804Asn)
c.5397G>T (p.Lys1799Asn)
9g.128617719C>ACA173578SPTAN1c.5473C>A (p.Arg1825=)
c.5437C>A (p.Arg1813=)
c.4900C>A (p.Arg1634=)
c.3060C>A
c.1047C>A
n.665C>A
c.5362C>A (p.Arg1788=)
c.5422C>A (p.Arg1808=)
c.5377C>A (p.Arg1793=)
c.5458C>A (p.Arg1820=)
c.5413C>A (p.Arg1805=)
c.5398C>A (p.Arg1800=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128617719C=CA1880364190SPTAN1c.5473C= (p.Arg1825=)
c.5437C= (p.Arg1813=)
c.4900C= (p.Arg1634=)
c.3060C=
c.1047C=
n.665C=
c.5362C= (p.Arg1788=)
c.5422C= (p.Arg1808=)
c.5377C= (p.Arg1793=)
c.5458C= (p.Arg1820=)
c.5413C= (p.Arg1805=)
c.5398C= (p.Arg1800=)
9g.128617719C>GCA375076307SPTAN1c.5473C>G (p.Arg1825Gly)
c.5437C>G (p.Arg1813Gly)
c.4900C>G (p.Arg1634Gly)
c.3060C>G
c.1047C>G
n.665C>G
c.5362C>G (p.Arg1788Gly)
c.5422C>G (p.Arg1808Gly)
c.5377C>G (p.Arg1793Gly)
c.5458C>G (p.Arg1820Gly)
c.5413C>G (p.Arg1805Gly)
c.5398C>G (p.Arg1800Gly)
9g.128617719C>TCA375076321SPTAN1c.5473C>T (p.Arg1825Trp)
c.5437C>T (p.Arg1813Trp)
c.4900C>T (p.Arg1634Trp)
c.3060C>T
c.1047C>T
n.665C>T
c.5362C>T (p.Arg1788Trp)
c.5422C>T (p.Arg1808Trp)
c.5377C>T (p.Arg1793Trp)
c.5458C>T (p.Arg1820Trp)
c.5413C>T (p.Arg1805Trp)
c.5398C>T (p.Arg1800Trp)
 ClinVar dbSNP gnomAD v4
9g.128617720G>ACA5265455SPTAN1c.5474G>A (p.Arg1825Gln)
c.5438G>A (p.Arg1813Gln)
c.4901G>A (p.Arg1634Gln)
c.3061G>A
c.1048G>A
n.666G>A
c.5363G>A (p.Arg1788Gln)
c.5423G>A (p.Arg1808Gln)
c.5378G>A (p.Arg1793Gln)
c.5459G>A (p.Arg1820Gln)
c.5414G>A (p.Arg1805Gln)
c.5399G>A (p.Arg1800Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.128617720G>CCA375076328SPTAN1c.5474G>C (p.Arg1825Pro)
c.5438G>C (p.Arg1813Pro)
c.4901G>C (p.Arg1634Pro)
c.3061G>C
c.1048G>C
n.666G>C
c.5363G>C (p.Arg1788Pro)
c.5423G>C (p.Arg1808Pro)
c.5378G>C (p.Arg1793Pro)
c.5459G>C (p.Arg1820Pro)
c.5414G>C (p.Arg1805Pro)
c.5399G>C (p.Arg1800Pro)
9g.128617720G=CA1880364191SPTAN1c.5474G= (p.Arg1825=)
c.5438G= (p.Arg1813=)
c.4901G= (p.Arg1634=)
c.3061G=
c.1048G=
n.666G=
c.5363G= (p.Arg1788=)
c.5423G= (p.Arg1808=)
c.5378G= (p.Arg1793=)
c.5459G= (p.Arg1820=)
c.5414G= (p.Arg1805=)
c.5399G= (p.Arg1800=)
9g.128617720G>TCA375076331SPTAN1c.5474G>T (p.Arg1825Leu)
c.5438G>T (p.Arg1813Leu)
c.4901G>T (p.Arg1634Leu)
c.3061G>T
c.1048G>T
n.666G>T
c.5363G>T (p.Arg1788Leu)
c.5423G>T (p.Arg1808Leu)
c.5378G>T (p.Arg1793Leu)
c.5459G>T (p.Arg1820Leu)
c.5414G>T (p.Arg1805Leu)
c.5399G>T (p.Arg1800Leu)
9g.128617721G>ACA467303784SPTAN1c.5475G>A (p.Arg1825=)
c.5439G>A (p.Arg1813=)
c.4902G>A (p.Arg1634=)
c.3062G>A
c.1049G>A
n.667G>A
c.5364G>A (p.Arg1788=)
c.5424G>A (p.Arg1808=)
c.5379G>A (p.Arg1793=)
c.5460G>A (p.Arg1820=)
c.5415G>A (p.Arg1805=)
c.5400G>A (p.Arg1800=)
 dbSNP
9g.128617721G>CCA467303785SPTAN1c.5475G>C (p.Arg1825=)
c.5439G>C (p.Arg1813=)
c.4902G>C (p.Arg1634=)
c.3062G>C
c.1049G>C
n.667G>C
c.5364G>C (p.Arg1788=)
c.5424G>C (p.Arg1808=)
c.5379G>C (p.Arg1793=)
c.5460G>C (p.Arg1820=)
c.5415G>C (p.Arg1805=)
c.5400G>C (p.Arg1800=)
 dbSNP
9g.128617721G=CA1880364192SPTAN1c.5475G= (p.Arg1825=)
c.5439G= (p.Arg1813=)
c.4902G= (p.Arg1634=)
c.3062G=
c.1049G=
n.667G=
c.5364G= (p.Arg1788=)
c.5424G= (p.Arg1808=)
c.5379G= (p.Arg1793=)
c.5460G= (p.Arg1820=)
c.5415G= (p.Arg1805=)
c.5400G= (p.Arg1800=)
9g.128617721G>TCA5265456SPTAN1c.5475G>T (p.Arg1825=)
c.5439G>T (p.Arg1813=)
c.4902G>T (p.Arg1634=)
c.3062G>T
c.1049G>T
n.667G>T
c.5364G>T (p.Arg1788=)
c.5424G>T (p.Arg1808=)
c.5379G>T (p.Arg1793=)
c.5460G>T (p.Arg1820=)
c.5415G>T (p.Arg1805=)
c.5400G>T (p.Arg1800=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128617722C>ACA375076339SPTAN1c.5476C>A (p.Leu1826Met)
c.5440C>A (p.Leu1814Met)
c.4903C>A (p.Leu1635Met)
c.3063C>A
c.1050C>A
n.668C>A
c.5365C>A (p.Leu1789Met)
c.5425C>A (p.Leu1809Met)
c.5380C>A (p.Leu1794Met)
c.5461C>A (p.Leu1821Met)
c.5416C>A (p.Leu1806Met)
c.5401C>A (p.Leu1801Met)
9g.128617722C>GCA375076356SPTAN1c.5476C>G (p.Leu1826Val)
c.5440C>G (p.Leu1814Val)
c.4903C>G (p.Leu1635Val)
c.3063C>G
c.1050C>G
n.668C>G
c.5365C>G (p.Leu1789Val)
c.5425C>G (p.Leu1809Val)
c.5380C>G (p.Leu1794Val)
c.5461C>G (p.Leu1821Val)
c.5416C>G (p.Leu1806Val)
c.5401C>G (p.Leu1801Val)
9g.128617722C>TCA467303786SPTAN1c.5476C>T (p.Leu1826=)
c.5440C>T (p.Leu1814=)
c.4903C>T (p.Leu1635=)
c.3063C>T
c.1050C>T
n.668C>T
c.5365C>T (p.Leu1789=)
c.5425C>T (p.Leu1809=)
c.5380C>T (p.Leu1794=)
c.5461C>T (p.Leu1821=)
c.5416C>T (p.Leu1806=)
c.5401C>T (p.Leu1801=)
 gnomAD v4
9g.128617723T>ACA375076374SPTAN1c.5477T>A (p.Leu1826Gln)
c.5441T>A (p.Leu1814Gln)
c.4904T>A (p.Leu1635Gln)
c.3064T>A
c.1051T>A
n.669T>A
c.5366T>A (p.Leu1789Gln)
c.5426T>A (p.Leu1809Gln)
c.5381T>A (p.Leu1794Gln)
c.5462T>A (p.Leu1821Gln)
c.5417T>A (p.Leu1806Gln)
c.5402T>A (p.Leu1801Gln)
9g.128617723T>CCA375076379SPTAN1c.5477T>C (p.Leu1826Pro)
c.5441T>C (p.Leu1814Pro)
c.4904T>C (p.Leu1635Pro)
c.3064T>C
c.1051T>C
n.669T>C
c.5366T>C (p.Leu1789Pro)
c.5426T>C (p.Leu1809Pro)
c.5381T>C (p.Leu1794Pro)
c.5462T>C (p.Leu1821Pro)
c.5417T>C (p.Leu1806Pro)
c.5402T>C (p.Leu1801Pro)
9g.128617723T>GCA375076383SPTAN1c.5477T>G (p.Leu1826Arg)
c.5441T>G (p.Leu1814Arg)
c.4904T>G (p.Leu1635Arg)
c.3064T>G
c.1051T>G
n.669T>G
c.5366T>G (p.Leu1789Arg)
c.5426T>G (p.Leu1809Arg)
c.5381T>G (p.Leu1794Arg)
c.5462T>G (p.Leu1821Arg)
c.5417T>G (p.Leu1806Arg)
c.5402T>G (p.Leu1801Arg)
9g.128617724G>ACA467303788SPTAN1c.5478G>A (p.Leu1826=)
c.5442G>A (p.Leu1814=)
c.4905G>A (p.Leu1635=)
c.3065G>A
c.1052G>A
n.670G>A
c.5367G>A (p.Leu1789=)
c.5427G>A (p.Leu1809=)
c.5382G>A (p.Leu1794=)
c.5463G>A (p.Leu1821=)
c.5418G>A (p.Leu1806=)
c.5403G>A (p.Leu1801=)
 gnomAD v4
9g.128617724G>CCA467303789SPTAN1c.5478G>C (p.Leu1826=)
c.5442G>C (p.Leu1814=)
c.4905G>C (p.Leu1635=)
c.3065G>C
c.1052G>C
n.670G>C
c.5367G>C (p.Leu1789=)
c.5427G>C (p.Leu1809=)
c.5382G>C (p.Leu1794=)
c.5463G>C (p.Leu1821=)
c.5418G>C (p.Leu1806=)
c.5403G>C (p.Leu1801=)
9g.128617724G>TCA467303787SPTAN1c.5478G>T (p.Leu1826=)
c.5442G>T (p.Leu1814=)
c.4905G>T (p.Leu1635=)
c.3065G>T
c.1052G>T
n.670G>T
c.5367G>T (p.Leu1789=)
c.5427G>T (p.Leu1809=)
c.5382G>T (p.Leu1794=)
c.5463G>T (p.Leu1821=)
c.5418G>T (p.Leu1806=)
c.5403G>T (p.Leu1801=)
9g.128617725G>ACA375076386SPTAN1c.5479G>A (p.Glu1827Lys)
c.5443G>A (p.Glu1815Lys)
c.4906G>A (p.Glu1636Lys)
c.3066G>A
c.1053G>A
n.671G>A
c.5368G>A (p.Glu1790Lys)
c.5428G>A (p.Glu1810Lys)
c.5383G>A (p.Glu1795Lys)
c.5464G>A (p.Glu1822Lys)
c.5419G>A (p.Glu1807Lys)
c.5404G>A (p.Glu1802Lys)
9g.128617725G>CCA375076389SPTAN1c.5479G>C (p.Glu1827Gln)
c.5443G>C (p.Glu1815Gln)
c.4906G>C (p.Glu1636Gln)
c.3066G>C
c.1053G>C
n.671G>C
c.5368G>C (p.Glu1790Gln)
c.5428G>C (p.Glu1810Gln)
c.5383G>C (p.Glu1795Gln)
c.5464G>C (p.Glu1822Gln)
c.5419G>C (p.Glu1807Gln)
c.5404G>C (p.Glu1802Gln)
9g.128617725G>TCA375076392SPTAN1c.5479G>T (p.Glu1827Ter)
c.5443G>T (p.Glu1815Ter)
c.4906G>T (p.Glu1636Ter)
c.3066G>T
c.1053G>T
n.671G>T
c.5368G>T (p.Glu1790Ter)
c.5428G>T (p.Glu1810Ter)
c.5383G>T (p.Glu1795Ter)
c.5464G>T (p.Glu1822Ter)
c.5419G>T (p.Glu1807Ter)
c.5404G>T (p.Glu1802Ter)
9g.128617726A=CA1880364193SPTAN1c.5480A= (p.Glu1827=)
c.5444A= (p.Glu1815=)
c.4907A= (p.Glu1636=)
c.3067A=
c.1054A=
n.672A=
c.5369A= (p.Glu1790=)
c.5429A= (p.Glu1810=)
c.5384A= (p.Glu1795=)
c.5465A= (p.Glu1822=)
c.5420A= (p.Glu1807=)
c.5405A= (p.Glu1802=)
9g.128617726A>CCA375076401SPTAN1c.5480A>C (p.Glu1827Ala)
c.5444A>C (p.Glu1815Ala)
c.4907A>C (p.Glu1636Ala)
c.3067A>C
c.1054A>C
n.672A>C
c.5369A>C (p.Glu1790Ala)
c.5429A>C (p.Glu1810Ala)
c.5384A>C (p.Glu1795Ala)
c.5465A>C (p.Glu1822Ala)
c.5420A>C (p.Glu1807Ala)
c.5405A>C (p.Glu1802Ala)
9g.128617726A>GCA375076396SPTAN1c.5480A>G (p.Glu1827Gly)
c.5444A>G (p.Glu1815Gly)
c.4907A>G (p.Glu1636Gly)
c.3067A>G
c.1054A>G
n.672A>G
c.5369A>G (p.Glu1790Gly)
c.5429A>G (p.Glu1810Gly)
c.5384A>G (p.Glu1795Gly)
c.5465A>G (p.Glu1822Gly)
c.5420A>G (p.Glu1807Gly)
c.5405A>G (p.Glu1802Gly)
 dbSNP
9g.128617726A>TCA375076400SPTAN1c.5480A>T (p.Glu1827Val)
c.5444A>T (p.Glu1815Val)
c.4907A>T (p.Glu1636Val)
c.3067A>T
c.1054A>T
n.672A>T
c.5369A>T (p.Glu1790Val)
c.5429A>T (p.Glu1810Val)
c.5384A>T (p.Glu1795Val)
c.5465A>T (p.Glu1822Val)
c.5420A>T (p.Glu1807Val)
c.5405A>T (p.Glu1802Val)
9g.128617727A>CCA375076405SPTAN1c.5481A>C (p.Glu1827Asp)
c.5445A>C (p.Glu1815Asp)
c.4908A>C (p.Glu1636Asp)
c.3068A>C
c.1055A>C
n.673A>C
c.5370A>C (p.Glu1790Asp)
c.5430A>C (p.Glu1810Asp)
c.5385A>C (p.Glu1795Asp)
c.5466A>C (p.Glu1822Asp)
c.5421A>C (p.Glu1807Asp)
c.5406A>C (p.Glu1802Asp)
9g.128617727A>GCA467303790SPTAN1c.5481A>G (p.Glu1827=)
c.5445A>G (p.Glu1815=)
c.4908A>G (p.Glu1636=)
c.3068A>G
c.1055A>G
n.673A>G
c.5370A>G (p.Glu1790=)
c.5430A>G (p.Glu1810=)
c.5385A>G (p.Glu1795=)
c.5466A>G (p.Glu1822=)
c.5421A>G (p.Glu1807=)
c.5406A>G (p.Glu1802=)
9g.128617727A>TCA375076409SPTAN1c.5481A>T (p.Glu1827Asp)
c.5445A>T (p.Glu1815Asp)
c.4908A>T (p.Glu1636Asp)
c.3068A>T
c.1055A>T
n.673A>T
c.5370A>T (p.Glu1790Asp)
c.5430A>T (p.Glu1810Asp)
c.5385A>T (p.Glu1795Asp)
c.5466A>T (p.Glu1822Asp)
c.5421A>T (p.Glu1807Asp)
c.5406A>T (p.Glu1802Asp)
9g.128617728G>ACA375076417SPTAN1c.5482G>A (p.Ala1828Thr)
c.5446G>A (p.Ala1816Thr)
c.4909G>A (p.Ala1637Thr)
c.3069G>A
c.1056G>A
n.674G>A
c.5371G>A (p.Ala1791Thr)
c.5431G>A (p.Ala1811Thr)
c.5386G>A (p.Ala1796Thr)
c.5467G>A (p.Ala1823Thr)
c.5422G>A (p.Ala1808Thr)
c.5407G>A (p.Ala1803Thr)
9g.128617728G>CCA375076419SPTAN1c.5482G>C (p.Ala1828Pro)
c.5446G>C (p.Ala1816Pro)
c.4909G>C (p.Ala1637Pro)
c.3069G>C
c.1056G>C
n.674G>C
c.5371G>C (p.Ala1791Pro)
c.5431G>C (p.Ala1811Pro)
c.5386G>C (p.Ala1796Pro)
c.5467G>C (p.Ala1823Pro)
c.5422G>C (p.Ala1808Pro)
c.5407G>C (p.Ala1803Pro)
9g.128617728G>TCA375076426SPTAN1c.5482G>T (p.Ala1828Ser)
c.5446G>T (p.Ala1816Ser)
c.4909G>T (p.Ala1637Ser)
c.3069G>T
c.1056G>T
n.674G>T
c.5371G>T (p.Ala1791Ser)
c.5431G>T (p.Ala1811Ser)
c.5386G>T (p.Ala1796Ser)
c.5467G>T (p.Ala1823Ser)
c.5422G>T (p.Ala1808Ser)
c.5407G>T (p.Ala1803Ser)
 COSMIC COSMIC
9g.128617729C>ACA375076432SPTAN1c.5483C>A (p.Ala1828Glu)
c.5447C>A (p.Ala1816Glu)
c.4910C>A (p.Ala1637Glu)
c.3070C>A
c.1057C>A
n.675C>A
c.5372C>A (p.Ala1791Glu)
c.5432C>A (p.Ala1811Glu)
c.5387C>A (p.Ala1796Glu)
c.5468C>A (p.Ala1823Glu)
c.5423C>A (p.Ala1808Glu)
c.5408C>A (p.Ala1803Glu)
9g.128617729C>GCA375076437SPTAN1c.5483C>G (p.Ala1828Gly)
c.5447C>G (p.Ala1816Gly)
c.4910C>G (p.Ala1637Gly)
c.3070C>G
c.1057C>G
n.675C>G
c.5372C>G (p.Ala1791Gly)
c.5432C>G (p.Ala1811Gly)
c.5387C>G (p.Ala1796Gly)
c.5468C>G (p.Ala1823Gly)
c.5423C>G (p.Ala1808Gly)
c.5408C>G (p.Ala1803Gly)
9g.128617729C>TCA375076436SPTAN1c.5483C>T (p.Ala1828Val)
c.5447C>T (p.Ala1816Val)
c.4910C>T (p.Ala1637Val)
c.3070C>T
c.1057C>T
n.675C>T
c.5372C>T (p.Ala1791Val)
c.5432C>T (p.Ala1811Val)
c.5387C>T (p.Ala1796Val)
c.5468C>T (p.Ala1823Val)
c.5423C>T (p.Ala1808Val)
c.5408C>T (p.Ala1803Val)
9g.128617730A=CA1880364194SPTAN1c.5484A= (p.Ala1828=)
c.5448A= (p.Ala1816=)
c.4911A= (p.Ala1637=)
c.3071A=
c.1058A=
n.676A=
c.5373A= (p.Ala1791=)
c.5433A= (p.Ala1811=)
c.5388A= (p.Ala1796=)
c.5469A= (p.Ala1823=)
c.5424A= (p.Ala1808=)
c.5409A= (p.Ala1803=)
9g.128617730A>CCA467303791SPTAN1c.5484A>C (p.Ala1828=)
c.5448A>C (p.Ala1816=)
c.4911A>C (p.Ala1637=)
c.3071A>C
c.1058A>C
n.676A>C
c.5373A>C (p.Ala1791=)
c.5433A>C (p.Ala1811=)
c.5388A>C (p.Ala1796=)
c.5469A>C (p.Ala1823=)
c.5424A>C (p.Ala1808=)
c.5409A>C (p.Ala1803=)
9g.128617730A>GCA467303792SPTAN1c.5484A>G (p.Ala1828=)
c.5448A>G (p.Ala1816=)
c.4911A>G (p.Ala1637=)
c.3071A>G
c.1058A>G
n.676A>G
c.5373A>G (p.Ala1791=)
c.5433A>G (p.Ala1811=)
c.5388A>G (p.Ala1796=)
c.5469A>G (p.Ala1823=)
c.5424A>G (p.Ala1808=)
c.5409A>G (p.Ala1803=)
9g.128617730A>TCA467303793SPTAN1c.5484A>T (p.Ala1828=)
c.5448A>T (p.Ala1816=)
c.4911A>T (p.Ala1637=)
c.3071A>T
c.1058A>T
n.676A>T
c.5373A>T (p.Ala1791=)
c.5433A>T (p.Ala1811=)
c.5388A>T (p.Ala1796=)
c.5469A>T (p.Ala1823=)
c.5424A>T (p.Ala1808=)
c.5409A>T (p.Ala1803=)
9g.128617730_128617731insTCACTATGTTGGCCAGGCTAGTCTCCA5265457SPTAN1c.5484_5485insTCACTATGTTGGCCAGGCTAGTCTC (p.Glu1829SerfsTer7)
c.5448_5449insTCACTATGTTGGCCAGGCTAGTCTC (p.Glu1817SerfsTer7)
c.4911_4912insTCACTATGTTGGCCAGGCTAGTCTC (p.Glu1638SerfsTer7)
c.3071_3072insTCACTATGTTGGCCAGGCTAGTCTC
c.1058_1059insTCACTATGTTGGCCAGGCTAGTCTC
n.676_677insTCACTATGTTGGCCAGGCTAGTCTC
c.5373_5374insTCACTATGTTGGCCAGGCTAGTCTC (p.Glu1792SerfsTer7)
c.5433_5434insTCACTATGTTGGCCAGGCTAGTCTC (p.Glu1812SerfsTer7)
c.5388_5389insTCACTATGTTGGCCAGGCTAGTCTC (p.Glu1797SerfsTer7)
c.5469_5470insTCACTATGTTGGCCAGGCTAGTCTC (p.Glu1824SerfsTer7)
c.5424_5425insTCACTATGTTGGCCAGGCTAGTCTC (p.Glu1809SerfsTer7)
c.5409_5410insTCACTATGTTGGCCAGGCTAGTCTC (p.Glu1804SerfsTer7)
 dbSNP ExAC
9g.128617731G>ACA375076446SPTAN1c.5485G>A (p.Glu1829Lys)
c.5449G>A (p.Glu1817Lys)
c.4912G>A (p.Glu1638Lys)
c.3072G>A
c.1059G>A
n.677G>A
c.5374G>A (p.Glu1792Lys)
c.5434G>A (p.Glu1812Lys)
c.5389G>A (p.Glu1797Lys)
c.5470G>A (p.Glu1824Lys)
c.5425G>A (p.Glu1809Lys)
c.5410G>A (p.Glu1804Lys)
9g.128617731G>CCA375076450SPTAN1c.5485G>C (p.Glu1829Gln)
c.5449G>C (p.Glu1817Gln)
c.4912G>C (p.Glu1638Gln)
c.3072G>C
c.1059G>C
n.677G>C
c.5374G>C (p.Glu1792Gln)
c.5434G>C (p.Glu1812Gln)
c.5389G>C (p.Glu1797Gln)
c.5470G>C (p.Glu1824Gln)
c.5425G>C (p.Glu1809Gln)
c.5410G>C (p.Glu1804Gln)
9g.128617731G>TCA375076451SPTAN1c.5485G>T (p.Glu1829Ter)
c.5449G>T (p.Glu1817Ter)
c.4912G>T (p.Glu1638Ter)
c.3072G>T
c.1059G>T
n.677G>T
c.5374G>T (p.Glu1792Ter)
c.5434G>T (p.Glu1812Ter)
c.5389G>T (p.Glu1797Ter)
c.5470G>T (p.Glu1824Ter)
c.5425G>T (p.Glu1809Ter)
c.5410G>T (p.Glu1804Ter)
9g.128617732A>CCA375076452SPTAN1c.5486A>C (p.Glu1829Ala)
c.5450A>C (p.Glu1817Ala)
c.4913A>C (p.Glu1638Ala)
c.3073A>C
c.1060A>C
n.678A>C
c.5375A>C (p.Glu1792Ala)
c.5435A>C (p.Glu1812Ala)
c.5390A>C (p.Glu1797Ala)
c.5471A>C (p.Glu1824Ala)
c.5426A>C (p.Glu1809Ala)
c.5411A>C (p.Glu1804Ala)
9g.128617732A>GCA375076453SPTAN1c.5486A>G (p.Glu1829Gly)
c.5450A>G (p.Glu1817Gly)
c.4913A>G (p.Glu1638Gly)
c.3073A>G
c.1060A>G
n.678A>G
c.5375A>G (p.Glu1792Gly)
c.5435A>G (p.Glu1812Gly)
c.5390A>G (p.Glu1797Gly)
c.5471A>G (p.Glu1824Gly)
c.5426A>G (p.Glu1809Gly)
c.5411A>G (p.Glu1804Gly)
9g.128617732A>TCA375076456SPTAN1c.5486A>T (p.Glu1829Val)
c.5450A>T (p.Glu1817Val)
c.4913A>T (p.Glu1638Val)
c.3073A>T
c.1060A>T
n.678A>T
c.5375A>T (p.Glu1792Val)
c.5435A>T (p.Glu1812Val)
c.5390A>T (p.Glu1797Val)
c.5471A>T (p.Glu1824Val)
c.5426A>T (p.Glu1809Val)
c.5411A>T (p.Glu1804Val)
9g.128617733A>CCA375076460SPTAN1c.5487A>C (p.Glu1829Asp)
c.5451A>C (p.Glu1817Asp)
c.4914A>C (p.Glu1638Asp)
c.3074A>C
c.1061A>C
n.679A>C
c.5376A>C (p.Glu1792Asp)
c.5436A>C (p.Glu1812Asp)
c.5391A>C (p.Glu1797Asp)
c.5472A>C (p.Glu1824Asp)
c.5427A>C (p.Glu1809Asp)
c.5412A>C (p.Glu1804Asp)
9g.128617733A>GCA467303794SPTAN1c.5487A>G (p.Glu1829=)
c.5451A>G (p.Glu1817=)
c.4914A>G (p.Glu1638=)
c.3074A>G
c.1061A>G
n.679A>G
c.5376A>G (p.Glu1792=)
c.5436A>G (p.Glu1812=)
c.5391A>G (p.Glu1797=)
c.5472A>G (p.Glu1824=)
c.5427A>G (p.Glu1809=)
c.5412A>G (p.Glu1804=)
9g.128617733A>TCA375076463SPTAN1c.5487A>T (p.Glu1829Asp)
c.5451A>T (p.Glu1817Asp)
c.4914A>T (p.Glu1638Asp)
c.3074A>T
c.1061A>T
n.679A>T
c.5376A>T (p.Glu1792Asp)
c.5436A>T (p.Glu1812Asp)
c.5391A>T (p.Glu1797Asp)
c.5472A>T (p.Glu1824Asp)
c.5427A>T (p.Glu1809Asp)
c.5412A>T (p.Glu1804Asp)
9g.128617734C>ACA375076467SPTAN1c.5488C>A (p.Leu1830Met)
c.5452C>A (p.Leu1818Met)
c.4915C>A (p.Leu1639Met)
c.3075C>A
c.1062C>A
n.680C>A
c.5377C>A (p.Leu1793Met)
c.5437C>A (p.Leu1813Met)
c.5392C>A (p.Leu1798Met)
c.5473C>A (p.Leu1825Met)
c.5428C>A (p.Leu1810Met)
c.5413C>A (p.Leu1805Met)
9g.128617734C>GCA375076471SPTAN1c.5488C>G (p.Leu1830Val)
c.5452C>G (p.Leu1818Val)
c.4915C>G (p.Leu1639Val)
c.3075C>G
c.1062C>G
n.680C>G
c.5377C>G (p.Leu1793Val)
c.5437C>G (p.Leu1813Val)
c.5392C>G (p.Leu1798Val)
c.5473C>G (p.Leu1825Val)
c.5428C>G (p.Leu1810Val)
c.5413C>G (p.Leu1805Val)
 ClinVar dbSNP
9g.128617734C>TCA467303795SPTAN1c.5488C>T (p.Leu1830=)
c.5452C>T (p.Leu1818=)
c.4915C>T (p.Leu1639=)
c.3075C>T
c.1062C>T
n.680C>T
c.5377C>T (p.Leu1793=)
c.5437C>T (p.Leu1813=)
c.5392C>T (p.Leu1798=)
c.5473C>T (p.Leu1825=)
c.5428C>T (p.Leu1810=)
c.5413C>T (p.Leu1805=)
9g.128617735T>ACA375076485SPTAN1c.5489T>A (p.Leu1830Gln)
c.5453T>A (p.Leu1818Gln)
c.4916T>A (p.Leu1639Gln)
c.3076T>A
c.1063T>A
n.681T>A
c.5378T>A (p.Leu1793Gln)
c.5438T>A (p.Leu1813Gln)
c.5393T>A (p.Leu1798Gln)
c.5474T>A (p.Leu1825Gln)
c.5429T>A (p.Leu1810Gln)
c.5414T>A (p.Leu1805Gln)
 ClinVar
9g.128617735T>CCA375076483SPTAN1c.5489T>C (p.Leu1830Pro)
c.5453T>C (p.Leu1818Pro)
c.4916T>C (p.Leu1639Pro)
c.3076T>C
c.1063T>C
n.681T>C
c.5378T>C (p.Leu1793Pro)
c.5438T>C (p.Leu1813Pro)
c.5393T>C (p.Leu1798Pro)
c.5474T>C (p.Leu1825Pro)
c.5429T>C (p.Leu1810Pro)
c.5414T>C (p.Leu1805Pro)
9g.128617735T>GCA375076475SPTAN1c.5489T>G (p.Leu1830Arg)
c.5453T>G (p.Leu1818Arg)
c.4916T>G (p.Leu1639Arg)
c.3076T>G
c.1063T>G
n.681T>G
c.5378T>G (p.Leu1793Arg)
c.5438T>G (p.Leu1813Arg)
c.5393T>G (p.Leu1798Arg)
c.5474T>G (p.Leu1825Arg)
c.5429T>G (p.Leu1810Arg)
c.5414T>G (p.Leu1805Arg)
9g.128617736G>ACA467303796SPTAN1c.5490G>A (p.Leu1830=)
c.5454G>A (p.Leu1818=)
c.4917G>A (p.Leu1639=)
c.3077G>A
c.1064G>A
n.682G>A
c.5379G>A (p.Leu1793=)
c.5439G>A (p.Leu1813=)
c.5394G>A (p.Leu1798=)
c.5475G>A (p.Leu1825=)
c.5430G>A (p.Leu1810=)
c.5415G>A (p.Leu1805=)
 dbSNP gnomAD v3 gnomAD v4
9g.128617736G>CCA467303797SPTAN1c.5490G>C (p.Leu1830=)
c.5454G>C (p.Leu1818=)
c.4917G>C (p.Leu1639=)
c.3077G>C
c.1064G>C
n.682G>C
c.5379G>C (p.Leu1793=)
c.5439G>C (p.Leu1813=)
c.5394G>C (p.Leu1798=)
c.5475G>C (p.Leu1825=)
c.5430G>C (p.Leu1810=)
c.5415G>C (p.Leu1805=)
9g.128617736G=CA1880364195SPTAN1c.5490G= (p.Leu1830=)
c.5454G= (p.Leu1818=)
c.4917G= (p.Leu1639=)
c.3077G=
c.1064G=
n.682G=
c.5379G= (p.Leu1793=)
c.5439G= (p.Leu1813=)
c.5394G= (p.Leu1798=)
c.5475G= (p.Leu1825=)
c.5430G= (p.Leu1810=)
c.5415G= (p.Leu1805=)
9g.128617736G>TCA467303798SPTAN1c.5490G>T (p.Leu1830=)
c.5454G>T (p.Leu1818=)
c.4917G>T (p.Leu1639=)
c.3077G>T
c.1064G>T
n.682G>T
c.5379G>T (p.Leu1793=)
c.5439G>T (p.Leu1813=)
c.5394G>T (p.Leu1798=)
c.5475G>T (p.Leu1825=)
c.5430G>T (p.Leu1810=)
c.5415G>T (p.Leu1805=)
9g.128617737G>ACA375076489SPTAN1c.5491G>A (p.Ala1831Thr)
c.5455G>A (p.Ala1819Thr)
c.4918G>A (p.Ala1640Thr)
c.3078G>A
c.1065G>A
n.683G>A
c.5380G>A (p.Ala1794Thr)
c.5440G>A (p.Ala1814Thr)
c.5395G>A (p.Ala1799Thr)
c.5476G>A (p.Ala1826Thr)
c.5431G>A (p.Ala1811Thr)
c.5416G>A (p.Ala1806Thr)
9g.128617737G>CCA5265458SPTAN1c.5491G>C (p.Ala1831Pro)
c.5455G>C (p.Ala1819Pro)
c.4918G>C (p.Ala1640Pro)
c.3078G>C
c.1065G>C
n.683G>C
c.5380G>C (p.Ala1794Pro)
c.5440G>C (p.Ala1814Pro)
c.5395G>C (p.Ala1799Pro)
c.5476G>C (p.Ala1826Pro)
c.5431G>C (p.Ala1811Pro)
c.5416G>C (p.Ala1806Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.128617737G=CA1880364196SPTAN1c.5491G= (p.Ala1831=)
c.5455G= (p.Ala1819=)
c.4918G= (p.Ala1640=)
c.3078G=
c.1065G=
n.683G=
c.5380G= (p.Ala1794=)
c.5440G= (p.Ala1814=)
c.5395G= (p.Ala1799=)
c.5476G= (p.Ala1826=)
c.5431G= (p.Ala1811=)
c.5416G= (p.Ala1806=)
9g.128617737G>TCA375076496SPTAN1c.5491G>T (p.Ala1831Ser)
c.5455G>T (p.Ala1819Ser)
c.4918G>T (p.Ala1640Ser)
c.3078G>T
c.1065G>T
n.683G>T
c.5380G>T (p.Ala1794Ser)
c.5440G>T (p.Ala1814Ser)
c.5395G>T (p.Ala1799Ser)
c.5476G>T (p.Ala1826Ser)
c.5431G>T (p.Ala1811Ser)
c.5416G>T (p.Ala1806Ser)
9g.128617738C>ACA375076500SPTAN1c.5492C>A (p.Ala1831Asp)
c.5456C>A (p.Ala1819Asp)
c.4919C>A (p.Ala1640Asp)
c.3079C>A
c.1066C>A
n.684C>A
c.5381C>A (p.Ala1794Asp)
c.5441C>A (p.Ala1814Asp)
c.5396C>A (p.Ala1799Asp)
c.5477C>A (p.Ala1826Asp)
c.5432C>A (p.Ala1811Asp)
c.5417C>A (p.Ala1806Asp)
9g.128617738C>GCA375076502SPTAN1c.5492C>G (p.Ala1831Gly)
c.5456C>G (p.Ala1819Gly)
c.4919C>G (p.Ala1640Gly)
c.3079C>G
c.1066C>G
n.684C>G
c.5381C>G (p.Ala1794Gly)
c.5441C>G (p.Ala1814Gly)
c.5396C>G (p.Ala1799Gly)
c.5477C>G (p.Ala1826Gly)
c.5432C>G (p.Ala1811Gly)
c.5417C>G (p.Ala1806Gly)
9g.128617738C>TCA375076501SPTAN1c.5492C>T (p.Ala1831Val)
c.5456C>T (p.Ala1819Val)
c.4919C>T (p.Ala1640Val)
c.3079C>T
c.1066C>T
n.684C>T
c.5381C>T (p.Ala1794Val)
c.5441C>T (p.Ala1814Val)
c.5396C>T (p.Ala1799Val)
c.5477C>T (p.Ala1826Val)
c.5432C>T (p.Ala1811Val)
c.5417C>T (p.Ala1806Val)
9g.128617739T>ACA467303799SPTAN1c.5493T>A (p.Ala1831=)
c.5457T>A (p.Ala1819=)
c.4920T>A (p.Ala1640=)
c.3080T>A
c.1067T>A
n.685T>A
c.5382T>A (p.Ala1794=)
c.5442T>A (p.Ala1814=)
c.5397T>A (p.Ala1799=)
c.5478T>A (p.Ala1826=)
c.5433T>A (p.Ala1811=)
c.5418T>A (p.Ala1806=)
9g.128617739T>CCA467303800SPTAN1c.5493T>C (p.Ala1831=)
c.5457T>C (p.Ala1819=)
c.4920T>C (p.Ala1640=)
c.3080T>C
c.1067T>C
n.685T>C
c.5382T>C (p.Ala1794=)
c.5442T>C (p.Ala1814=)
c.5397T>C (p.Ala1799=)
c.5478T>C (p.Ala1826=)
c.5433T>C (p.Ala1811=)
c.5418T>C (p.Ala1806=)
9g.128617739T>GCA467303801SPTAN1c.5493T>G (p.Ala1831=)
c.5457T>G (p.Ala1819=)
c.4920T>G (p.Ala1640=)
c.3080T>G
c.1067T>G
n.685T>G
c.5382T>G (p.Ala1794=)
c.5442T>G (p.Ala1814=)
c.5397T>G (p.Ala1799=)
c.5478T>G (p.Ala1826=)
c.5433T>G (p.Ala1811=)
c.5418T>G (p.Ala1806=)
9g.128617740G>ACA375076503SPTAN1c.5494G>A (p.Ala1832Thr)
c.5458G>A (p.Ala1820Thr)
c.4921G>A (p.Ala1641Thr)
c.3081G>A
c.1068G>A
n.686G>A
c.5383G>A (p.Ala1795Thr)
c.5443G>A (p.Ala1815Thr)
c.5398G>A (p.Ala1800Thr)
c.5479G>A (p.Ala1827Thr)
c.5434G>A (p.Ala1812Thr)
c.5419G>A (p.Ala1807Thr)
 gnomAD v4
9g.128617740G>CCA375076506SPTAN1c.5494G>C (p.Ala1832Pro)
c.5458G>C (p.Ala1820Pro)
c.4921G>C (p.Ala1641Pro)
c.3081G>C
c.1068G>C
n.686G>C
c.5383G>C (p.Ala1795Pro)
c.5443G>C (p.Ala1815Pro)
c.5398G>C (p.Ala1800Pro)
c.5479G>C (p.Ala1827Pro)
c.5434G>C (p.Ala1812Pro)
c.5419G>C (p.Ala1807Pro)
9g.128617740G>TCA375076508SPTAN1c.5494G>T (p.Ala1832Ser)
c.5458G>T (p.Ala1820Ser)
c.4921G>T (p.Ala1641Ser)
c.3081G>T
c.1068G>T
n.686G>T
c.5383G>T (p.Ala1795Ser)
c.5443G>T (p.Ala1815Ser)
c.5398G>T (p.Ala1800Ser)
c.5479G>T (p.Ala1827Ser)
c.5434G>T (p.Ala1812Ser)
c.5419G>T (p.Ala1807Ser)
9g.128617741C>ACA375076522SPTAN1c.5495C>A (p.Ala1832Glu)
c.5459C>A (p.Ala1820Glu)
c.4922C>A (p.Ala1641Glu)
c.3082C>A
c.1069C>A
n.687C>A
c.5384C>A (p.Ala1795Glu)
c.5444C>A (p.Ala1815Glu)
c.5399C>A (p.Ala1800Glu)
c.5480C>A (p.Ala1827Glu)
c.5435C>A (p.Ala1812Glu)
c.5420C>A (p.Ala1807Glu)
9g.128617741C>GCA375076526SPTAN1c.5495C>G (p.Ala1832Gly)
c.5459C>G (p.Ala1820Gly)
c.4922C>G (p.Ala1641Gly)
c.3082C>G
c.1069C>G
n.687C>G
c.5384C>G (p.Ala1795Gly)
c.5444C>G (p.Ala1815Gly)
c.5399C>G (p.Ala1800Gly)
c.5480C>G (p.Ala1827Gly)
c.5435C>G (p.Ala1812Gly)
c.5420C>G (p.Ala1807Gly)
9g.128617741C>TCA375076527SPTAN1c.5495C>T (p.Ala1832Val)
c.5459C>T (p.Ala1820Val)
c.4922C>T (p.Ala1641Val)
c.3082C>T
c.1069C>T
n.687C>T
c.5384C>T (p.Ala1795Val)
c.5444C>T (p.Ala1815Val)
c.5399C>T (p.Ala1800Val)
c.5480C>T (p.Ala1827Val)
c.5435C>T (p.Ala1812Val)
c.5420C>T (p.Ala1807Val)
 ClinVar gnomAD v4
9g.128617742G>ACA302996SPTAN1c.5496G>A (p.Ala1832=)
c.5460G>A (p.Ala1820=)
c.4923G>A (p.Ala1641=)
c.3083G>A
c.1070G>A
n.688G>A
c.5385G>A (p.Ala1795=)
c.5445G>A (p.Ala1815=)
c.5400G>A (p.Ala1800=)
c.5481G>A (p.Ala1827=)
c.5436G>A (p.Ala1812=)
c.5421G>A (p.Ala1807=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128617742G>CCA467303802SPTAN1c.5496G>C (p.Ala1832=)
c.5460G>C (p.Ala1820=)
c.4923G>C (p.Ala1641=)
c.3083G>C
c.1070G>C
n.688G>C
c.5385G>C (p.Ala1795=)
c.5445G>C (p.Ala1815=)
c.5400G>C (p.Ala1800=)
c.5481G>C (p.Ala1827=)
c.5436G>C (p.Ala1812=)
c.5421G>C (p.Ala1807=)
9g.128617742G=CA1880364197SPTAN1c.5496G= (p.Ala1832=)
c.5460G= (p.Ala1820=)
c.4923G= (p.Ala1641=)
c.3083G=
c.1070G=
n.688G=
c.5385G= (p.Ala1795=)
c.5445G= (p.Ala1815=)
c.5400G= (p.Ala1800=)
c.5481G= (p.Ala1827=)
c.5436G= (p.Ala1812=)
c.5421G= (p.Ala1807=)
9g.128617742G>TCA467303803SPTAN1c.5496G>T (p.Ala1832=)
c.5460G>T (p.Ala1820=)
c.4923G>T (p.Ala1641=)
c.3083G>T
c.1070G>T
n.688G>T
c.5385G>T (p.Ala1795=)
c.5445G>T (p.Ala1815=)
c.5400G>T (p.Ala1800=)
c.5481G>T (p.Ala1827=)
c.5436G>T (p.Ala1812=)
c.5421G>T (p.Ala1807=)
 gnomAD v4
9g.128617743C>ACA375076534SPTAN1c.5497C>A (p.His1833Asn)
c.5461C>A (p.His1821Asn)
c.4924C>A (p.His1642Asn)
c.3084C>A
c.1071C>A
n.689C>A
c.5386C>A (p.His1796Asn)
c.5446C>A (p.His1816Asn)
c.5401C>A (p.His1801Asn)
c.5482C>A (p.His1828Asn)
c.5437C>A (p.His1813Asn)
c.5422C>A (p.His1808Asn)
 gnomAD v4
9g.128617743C=CA1880364198SPTAN1c.5497C= (p.His1833=)
c.5461C= (p.His1821=)
c.4924C= (p.His1642=)
c.3084C=
c.1071C=
n.689C=
c.5386C= (p.His1796=)
c.5446C= (p.His1816=)
c.5401C= (p.His1801=)
c.5482C= (p.His1828=)
c.5437C= (p.His1813=)
c.5422C= (p.His1808=)
9g.128617743C>GCA375076538SPTAN1c.5497C>G (p.His1833Asp)
c.5461C>G (p.His1821Asp)
c.4924C>G (p.His1642Asp)
c.3084C>G
c.1071C>G
n.689C>G
c.5386C>G (p.His1796Asp)
c.5446C>G (p.His1816Asp)
c.5401C>G (p.His1801Asp)
c.5482C>G (p.His1828Asp)
c.5437C>G (p.His1813Asp)
c.5422C>G (p.His1808Asp)
9g.128617743C>TCA375076540SPTAN1c.5497C>T (p.His1833Tyr)
c.5461C>T (p.His1821Tyr)
c.4924C>T (p.His1642Tyr)
c.3084C>T
c.1071C>T
n.689C>T
c.5386C>T (p.His1796Tyr)
c.5446C>T (p.His1816Tyr)
c.5401C>T (p.His1801Tyr)
c.5482C>T (p.His1828Tyr)
c.5437C>T (p.His1813Tyr)
c.5422C>T (p.His1808Tyr)
 ClinVar dbSNP
9g.128617744A=CA1880364199SPTAN1c.5498A= (p.His1833=)
c.5462A= (p.His1821=)
c.4925A= (p.His1642=)
c.3085A=
c.1072A=
n.690A=
c.5387A= (p.His1796=)
c.5447A= (p.His1816=)
c.5402A= (p.His1801=)
c.5483A= (p.His1828=)
c.5438A= (p.His1813=)
c.5423A= (p.His1808=)
9g.128617744A>CCA375076549SPTAN1c.5498A>C (p.His1833Pro)
c.5462A>C (p.His1821Pro)
c.4925A>C (p.His1642Pro)
c.3085A>C
c.1072A>C
n.690A>C
c.5387A>C (p.His1796Pro)
c.5447A>C (p.His1816Pro)
c.5402A>C (p.His1801Pro)
c.5483A>C (p.His1828Pro)
c.5438A>C (p.His1813Pro)
c.5423A>C (p.His1808Pro)
 dbSNP gnomAD v3 gnomAD v4
9g.128617744A>GCA375076544SPTAN1c.5498A>G (p.His1833Arg)
c.5462A>G (p.His1821Arg)
c.4925A>G (p.His1642Arg)
c.3085A>G
c.1072A>G
n.690A>G
c.5387A>G (p.His1796Arg)
c.5447A>G (p.His1816Arg)
c.5402A>G (p.His1801Arg)
c.5483A>G (p.His1828Arg)
c.5438A>G (p.His1813Arg)
c.5423A>G (p.His1808Arg)
 dbSNP gnomAD v3 gnomAD v4
9g.128617744A>TCA375076547SPTAN1c.5498A>T (p.His1833Leu)
c.5462A>T (p.His1821Leu)
c.4925A>T (p.His1642Leu)
c.3085A>T
c.1072A>T
n.690A>T
c.5387A>T (p.His1796Leu)
c.5447A>T (p.His1816Leu)
c.5402A>T (p.His1801Leu)
c.5483A>T (p.His1828Leu)
c.5438A>T (p.His1813Leu)
c.5423A>T (p.His1808Leu)
9g.128617745T>ACA375076552SPTAN1c.5499T>A (p.His1833Gln)
c.5463T>A (p.His1821Gln)
c.4926T>A (p.His1642Gln)
c.3086T>A
c.1073T>A
n.691T>A
c.5388T>A (p.His1796Gln)
c.5448T>A (p.His1816Gln)
c.5403T>A (p.His1801Gln)
c.5484T>A (p.His1828Gln)
c.5439T>A (p.His1813Gln)
c.5424T>A (p.His1808Gln)
9g.128617745T>CCA467303804SPTAN1c.5499T>C (p.His1833=)
c.5463T>C (p.His1821=)
c.4926T>C (p.His1642=)
c.3086T>C
c.1073T>C
n.691T>C
c.5388T>C (p.His1796=)
c.5448T>C (p.His1816=)
c.5403T>C (p.His1801=)
c.5484T>C (p.His1828=)
c.5439T>C (p.His1813=)
c.5424T>C (p.His1808=)
 ClinVar dbSNP
9g.128617745T>GCA375076554SPTAN1c.5499T>G (p.His1833Gln)
c.5463T>G (p.His1821Gln)
c.4926T>G (p.His1642Gln)
c.3086T>G
c.1073T>G
n.691T>G
c.5388T>G (p.His1796Gln)
c.5448T>G (p.His1816Gln)
c.5403T>G (p.His1801Gln)
c.5484T>G (p.His1828Gln)
c.5439T>G (p.His1813Gln)
c.5424T>G (p.His1808Gln)
9g.128617745T=CA1880364200SPTAN1c.5499T= (p.His1833=)
c.5463T= (p.His1821=)
c.4926T= (p.His1642=)
c.3086T=
c.1073T=
n.691T=
c.5388T= (p.His1796=)
c.5448T= (p.His1816=)
c.5403T= (p.His1801=)
c.5484T= (p.His1828=)
c.5439T= (p.His1813=)
c.5424T= (p.His1808=)
9g.128617746G>ACA375076558SPTAN1c.5500G>A (p.Glu1834Lys)
c.5464G>A (p.Glu1822Lys)
c.4927G>A (p.Glu1643Lys)
c.3087G>A
c.1074G>A
n.692G>A
c.5389G>A (p.Glu1797Lys)
c.5449G>A (p.Glu1817Lys)
c.5404G>A (p.Glu1802Lys)
c.5485G>A (p.Glu1829Lys)
c.5440G>A (p.Glu1814Lys)
c.5425G>A (p.Glu1809Lys)
 gnomAD v4
9g.128617746G>CCA375076562SPTAN1c.5500G>C (p.Glu1834Gln)
c.5464G>C (p.Glu1822Gln)
c.4927G>C (p.Glu1643Gln)
c.3087G>C
c.1074G>C
n.692G>C
c.5389G>C (p.Glu1797Gln)
c.5449G>C (p.Glu1817Gln)
c.5404G>C (p.Glu1802Gln)
c.5485G>C (p.Glu1829Gln)
c.5440G>C (p.Glu1814Gln)
c.5425G>C (p.Glu1809Gln)
9g.128617746G>TCA375076564SPTAN1c.5500G>T (p.Glu1834Ter)
c.5464G>T (p.Glu1822Ter)
c.4927G>T (p.Glu1643Ter)
c.3087G>T
c.1074G>T
n.692G>T
c.5389G>T (p.Glu1797Ter)
c.5449G>T (p.Glu1817Ter)
c.5404G>T (p.Glu1802Ter)
c.5485G>T (p.Glu1829Ter)
c.5440G>T (p.Glu1814Ter)
c.5425G>T (p.Glu1809Ter)
9g.128617747A>CCA375076567SPTAN1c.5501A>C (p.Glu1834Ala)
c.5465A>C (p.Glu1822Ala)
c.4928A>C (p.Glu1643Ala)
c.3088A>C
c.1075A>C
n.693A>C
c.5390A>C (p.Glu1797Ala)
c.5450A>C (p.Glu1817Ala)
c.5405A>C (p.Glu1802Ala)
c.5486A>C (p.Glu1829Ala)
c.5441A>C (p.Glu1814Ala)
c.5426A>C (p.Glu1809Ala)
 gnomAD v4
9g.128617747A>GCA375076571SPTAN1c.5501A>G (p.Glu1834Gly)
c.5465A>G (p.Glu1822Gly)
c.4928A>G (p.Glu1643Gly)
c.3088A>G
c.1075A>G
n.693A>G
c.5390A>G (p.Glu1797Gly)
c.5450A>G (p.Glu1817Gly)
c.5405A>G (p.Glu1802Gly)
c.5486A>G (p.Glu1829Gly)
c.5441A>G (p.Glu1814Gly)
c.5426A>G (p.Glu1809Gly)
9g.128617747A>TCA375076573SPTAN1c.5501A>T (p.Glu1834Val)
c.5465A>T (p.Glu1822Val)
c.4928A>T (p.Glu1643Val)
c.3088A>T
c.1075A>T
n.693A>T
c.5390A>T (p.Glu1797Val)
c.5450A>T (p.Glu1817Val)
c.5405A>T (p.Glu1802Val)
c.5486A>T (p.Glu1829Val)
c.5441A>T (p.Glu1814Val)
c.5426A>T (p.Glu1809Val)
9g.128617748G>ACA467303805SPTAN1c.5502G>A (p.Glu1834=)
c.5466G>A (p.Glu1822=)
c.4929G>A (p.Glu1643=)
c.3089G>A
c.1076G>A
n.694G>A
c.5391G>A (p.Glu1797=)
c.5451G>A (p.Glu1817=)
c.5406G>A (p.Glu1802=)
c.5487G>A (p.Glu1829=)
c.5442G>A (p.Glu1814=)
c.5427G>A (p.Glu1809=)
 gnomAD v4
9g.128617748G>CCA375076576SPTAN1c.5502G>C (p.Glu1834Asp)
c.5466G>C (p.Glu1822Asp)
c.4929G>C (p.Glu1643Asp)
c.3089G>C
c.1076G>C
n.694G>C
c.5391G>C (p.Glu1797Asp)
c.5451G>C (p.Glu1817Asp)
c.5406G>C (p.Glu1802Asp)
c.5487G>C (p.Glu1829Asp)
c.5442G>C (p.Glu1814Asp)
c.5427G>C (p.Glu1809Asp)
9g.128617748G>TCA375076577SPTAN1c.5502G>T (p.Glu1834Asp)
c.5466G>T (p.Glu1822Asp)
c.4929G>T (p.Glu1643Asp)
c.3089G>T
c.1076G>T
n.694G>T
c.5391G>T (p.Glu1797Asp)
c.5451G>T (p.Glu1817Asp)
c.5406G>T (p.Glu1802Asp)
c.5487G>T (p.Glu1829Asp)
c.5442G>T (p.Glu1814Asp)
c.5427G>T (p.Glu1809Asp)
9g.128617750_128617753delCA2586963921SPTAN1c.5504_5507del (p.Pro1835LeufsTer?)
c.5468_5471del (p.Pro1823LeufsTer?)
c.4931_4934del (p.Pro1644LeufsTer?)
c.3091_3094del
c.1078_1081del
n.696_699del
c.5393_5396del (p.Pro1798LeufsTer?)
c.5453_5456del (p.Pro1818LeufsTer?)
c.5408_5411del (p.Pro1803LeufsTer?)
c.5489_5492del (p.Pro1830LeufsTer?)
c.5444_5447del (p.Pro1815LeufsTer?)
c.5429_5432del (p.Pro1810LeufsTer?)
 ClinVar
9g.128617749C>ACA375076583SPTAN1c.5503C>A (p.Pro1835Thr)
c.5467C>A (p.Pro1823Thr)
c.4930C>A (p.Pro1644Thr)
c.3090C>A
c.1077C>A
n.695C>A
c.5392C>A (p.Pro1798Thr)
c.5452C>A (p.Pro1818Thr)
c.5407C>A (p.Pro1803Thr)
c.5488C>A (p.Pro1830Thr)
c.5443C>A (p.Pro1815Thr)
c.5428C>A (p.Pro1810Thr)
9g.128617749C>GCA375076585SPTAN1c.5503C>G (p.Pro1835Ala)
c.5467C>G (p.Pro1823Ala)
c.4930C>G (p.Pro1644Ala)
c.3090C>G
c.1077C>G
n.695C>G
c.5392C>G (p.Pro1798Ala)
c.5452C>G (p.Pro1818Ala)
c.5407C>G (p.Pro1803Ala)
c.5488C>G (p.Pro1830Ala)
c.5443C>G (p.Pro1815Ala)
c.5428C>G (p.Pro1810Ala)
9g.128617749C>TCA375076581SPTAN1c.5503C>T (p.Pro1835Ser)
c.5467C>T (p.Pro1823Ser)
c.4930C>T (p.Pro1644Ser)
c.3090C>T
c.1077C>T
n.695C>T
c.5392C>T (p.Pro1798Ser)
c.5452C>T (p.Pro1818Ser)
c.5407C>T (p.Pro1803Ser)
c.5488C>T (p.Pro1830Ser)
c.5443C>T (p.Pro1815Ser)
c.5428C>T (p.Pro1810Ser)
9g.128617750C>ACA375076588SPTAN1c.5504C>A (p.Pro1835Gln)
c.5468C>A (p.Pro1823Gln)
c.4931C>A (p.Pro1644Gln)
c.3091C>A
c.1078C>A
n.696C>A
c.5393C>A (p.Pro1798Gln)
c.5453C>A (p.Pro1818Gln)
c.5408C>A (p.Pro1803Gln)
c.5489C>A (p.Pro1830Gln)
c.5444C>A (p.Pro1815Gln)
c.5429C>A (p.Pro1810Gln)
9g.128617750C=CA1880364201SPTAN1c.5504C= (p.Pro1835=)
c.5468C= (p.Pro1823=)
c.4931C= (p.Pro1644=)
c.3091C=
c.1078C=
n.696C=
c.5393C= (p.Pro1798=)
c.5453C= (p.Pro1818=)
c.5408C= (p.Pro1803=)
c.5489C= (p.Pro1830=)
c.5444C= (p.Pro1815=)
c.5429C= (p.Pro1810=)
9g.128617750C>GCA375076592SPTAN1c.5504C>G (p.Pro1835Arg)
c.5468C>G (p.Pro1823Arg)
c.4931C>G (p.Pro1644Arg)
c.3091C>G
c.1078C>G
n.696C>G
c.5393C>G (p.Pro1798Arg)
c.5453C>G (p.Pro1818Arg)
c.5408C>G (p.Pro1803Arg)
c.5489C>G (p.Pro1830Arg)
c.5444C>G (p.Pro1815Arg)
c.5429C>G (p.Pro1810Arg)
9g.128617750C>TCA5265459SPTAN1c.5504C>T (p.Pro1835Leu)
c.5468C>T (p.Pro1823Leu)
c.4931C>T (p.Pro1644Leu)
c.3091C>T
c.1078C>T
n.696C>T
c.5393C>T (p.Pro1798Leu)
c.5453C>T (p.Pro1818Leu)
c.5408C>T (p.Pro1803Leu)
c.5489C>T (p.Pro1830Leu)
c.5444C>T (p.Pro1815Leu)
c.5429C>T (p.Pro1810Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.128617751G>ACA5265460SPTAN1c.5505G>A (p.Pro1835=)
c.5469G>A (p.Pro1823=)
c.4932G>A (p.Pro1644=)
c.3092G>A
c.1079G>A
n.697G>A
c.5394G>A (p.Pro1798=)
c.5454G>A (p.Pro1818=)
c.5409G>A (p.Pro1803=)
c.5490G>A (p.Pro1830=)
c.5445G>A (p.Pro1815=)
c.5430G>A (p.Pro1810=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128617751G>CCA467303807SPTAN1c.5505G>C (p.Pro1835=)
c.5469G>C (p.Pro1823=)
c.4932G>C (p.Pro1644=)
c.3092G>C
c.1079G>C
n.697G>C
c.5394G>C (p.Pro1798=)
c.5454G>C (p.Pro1818=)
c.5409G>C (p.Pro1803=)
c.5490G>C (p.Pro1830=)
c.5445G>C (p.Pro1815=)
c.5430G>C (p.Pro1810=)
9g.128617751G=CA1880364202SPTAN1c.5505G= (p.Pro1835=)
c.5469G= (p.Pro1823=)
c.4932G= (p.Pro1644=)
c.3092G=
c.1079G=
n.697G=
c.5394G= (p.Pro1798=)
c.5454G= (p.Pro1818=)
c.5409G= (p.Pro1803=)
c.5490G= (p.Pro1830=)
c.5445G= (p.Pro1815=)
c.5430G= (p.Pro1810=)
9g.128617751G>TCA467303806SPTAN1c.5505G>T (p.Pro1835=)
c.5469G>T (p.Pro1823=)
c.4932G>T (p.Pro1644=)
c.3092G>T
c.1079G>T
n.697G>T
c.5394G>T (p.Pro1798=)
c.5454G>T (p.Pro1818=)
c.5409G>T (p.Pro1803=)
c.5490G>T (p.Pro1830=)
c.5445G>T (p.Pro1815=)
c.5430G>T (p.Pro1810=)
9g.128617752G>ACA318718SPTAN1c.5506G>A (p.Ala1836Thr)
c.5470G>A (p.Ala1824Thr)
c.4933G>A (p.Ala1645Thr)
c.3093G>A
c.1080G>A
n.698G>A
c.5395G>A (p.Ala1799Thr)
c.5455G>A (p.Ala1819Thr)
c.5410G>A (p.Ala1804Thr)
c.5491G>A (p.Ala1831Thr)
c.5446G>A (p.Ala1816Thr)
c.5431G>A (p.Ala1811Thr)
 ClinVar dbSNP gnomAD v4
9g.128617752G>CCA375076600SPTAN1c.5506G>C (p.Ala1836Pro)
c.5470G>C (p.Ala1824Pro)
c.4933G>C (p.Ala1645Pro)
c.3093G>C
c.1080G>C
n.698G>C
c.5395G>C (p.Ala1799Pro)
c.5455G>C (p.Ala1819Pro)
c.5410G>C (p.Ala1804Pro)
c.5491G>C (p.Ala1831Pro)
c.5446G>C (p.Ala1816Pro)
c.5431G>C (p.Ala1811Pro)
 gnomAD v4
9g.128617752G=CA1880364203SPTAN1c.5506G= (p.Ala1836=)
c.5470G= (p.Ala1824=)
c.4933G= (p.Ala1645=)
c.3093G=
c.1080G=
n.698G=
c.5395G= (p.Ala1799=)
c.5455G= (p.Ala1819=)
c.5410G= (p.Ala1804=)
c.5491G= (p.Ala1831=)
c.5446G= (p.Ala1816=)
c.5431G= (p.Ala1811=)
9g.128617752G>TCA375076597SPTAN1c.5506G>T (p.Ala1836Ser)
c.5470G>T (p.Ala1824Ser)
c.4933G>T (p.Ala1645Ser)
c.3093G>T
c.1080G>T
n.698G>T
c.5395G>T (p.Ala1799Ser)
c.5455G>T (p.Ala1819Ser)
c.5410G>T (p.Ala1804Ser)
c.5491G>T (p.Ala1831Ser)
c.5446G>T (p.Ala1816Ser)
c.5431G>T (p.Ala1811Ser)
9g.128617753C>ACA375076604SPTAN1c.5507C>A (p.Ala1836Asp)
c.5471C>A (p.Ala1824Asp)
c.4934C>A (p.Ala1645Asp)
c.3094C>A
c.1081C>A
n.699C>A
c.5396C>A (p.Ala1799Asp)
c.5456C>A (p.Ala1819Asp)
c.5411C>A (p.Ala1804Asp)
c.5492C>A (p.Ala1831Asp)
c.5447C>A (p.Ala1816Asp)
c.5432C>A (p.Ala1811Asp)
9g.128617753C>GCA375076606SPTAN1c.5507C>G (p.Ala1836Gly)
c.5471C>G (p.Ala1824Gly)
c.4934C>G (p.Ala1645Gly)
c.3094C>G
c.1081C>G
n.699C>G
c.5396C>G (p.Ala1799Gly)
c.5456C>G (p.Ala1819Gly)
c.5411C>G (p.Ala1804Gly)
c.5492C>G (p.Ala1831Gly)
c.5447C>G (p.Ala1816Gly)
c.5432C>G (p.Ala1811Gly)
9g.128617753C>TCA375076610SPTAN1c.5507C>T (p.Ala1836Val)
c.5471C>T (p.Ala1824Val)
c.4934C>T (p.Ala1645Val)
c.3094C>T
c.1081C>T
n.699C>T
c.5396C>T (p.Ala1799Val)
c.5456C>T (p.Ala1819Val)
c.5411C>T (p.Ala1804Val)
c.5492C>T (p.Ala1831Val)
c.5447C>T (p.Ala1816Val)
c.5432C>T (p.Ala1811Val)
9g.128617754T>ACA467303808SPTAN1c.5508T>A (p.Ala1836=)
c.5472T>A (p.Ala1824=)
c.4935T>A (p.Ala1645=)
c.3095T>A
c.1082T>A
n.700T>A
c.5397T>A (p.Ala1799=)
c.5457T>A (p.Ala1819=)
c.5412T>A (p.Ala1804=)
c.5493T>A (p.Ala1831=)
c.5448T>A (p.Ala1816=)
c.5433T>A (p.Ala1811=)
 gnomAD v4
9g.128617754T>CCA467303809SPTAN1c.5508T>C (p.Ala1836=)
c.5472T>C (p.Ala1824=)
c.4935T>C (p.Ala1645=)
c.3095T>C
c.1082T>C
n.700T>C
c.5397T>C (p.Ala1799=)
c.5457T>C (p.Ala1819=)
c.5412T>C (p.Ala1804=)
c.5493T>C (p.Ala1831=)
c.5448T>C (p.Ala1816=)
c.5433T>C (p.Ala1811=)
9g.128617754T>GCA467303810SPTAN1c.5508T>G (p.Ala1836=)
c.5472T>G (p.Ala1824=)
c.4935T>G (p.Ala1645=)
c.3095T>G
c.1082T>G
n.700T>G
c.5397T>G (p.Ala1799=)
c.5457T>G (p.Ala1819=)
c.5412T>G (p.Ala1804=)
c.5493T>G (p.Ala1831=)
c.5448T>G (p.Ala1816=)
c.5433T>G (p.Ala1811=)
9g.128617755A=CA1880364204SPTAN1c.5509A= (p.Ile1837=)
c.5473A= (p.Ile1825=)
c.4936A= (p.Ile1646=)
c.3096A=
c.1083A=
n.701A=
c.5398A= (p.Ile1800=)
c.5458A= (p.Ile1820=)
c.5413A= (p.Ile1805=)
c.5494A= (p.Ile1832=)
c.5449A= (p.Ile1817=)
c.5434A= (p.Ile1812=)
9g.128617755A>CCA375076613SPTAN1c.5509A>C (p.Ile1837Leu)
c.5473A>C (p.Ile1825Leu)
c.4936A>C (p.Ile1646Leu)
c.3096A>C
c.1083A>C
n.701A>C
c.5398A>C (p.Ile1800Leu)
c.5458A>C (p.Ile1820Leu)
c.5413A>C (p.Ile1805Leu)
c.5494A>C (p.Ile1832Leu)
c.5449A>C (p.Ile1817Leu)
c.5434A>C (p.Ile1812Leu)
9g.128617755A>GCA200401646SPTAN1c.5509A>G (p.Ile1837Val)
c.5473A>G (p.Ile1825Val)
c.4936A>G (p.Ile1646Val)
c.3096A>G
c.1083A>G
n.701A>G
c.5398A>G (p.Ile1800Val)
c.5458A>G (p.Ile1820Val)
c.5413A>G (p.Ile1805Val)
c.5494A>G (p.Ile1832Val)
c.5449A>G (p.Ile1817Val)
c.5434A>G (p.Ile1812Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.128617755A>TCA375076617SPTAN1c.5509A>T (p.Ile1837Phe)
c.5473A>T (p.Ile1825Phe)
c.4936A>T (p.Ile1646Phe)
c.3096A>T
c.1083A>T
n.701A>T
c.5398A>T (p.Ile1800Phe)
c.5458A>T (p.Ile1820Phe)
c.5413A>T (p.Ile1805Phe)
c.5494A>T (p.Ile1832Phe)
c.5449A>T (p.Ile1817Phe)
c.5434A>T (p.Ile1812Phe)
9g.128617756T>ACA375076620SPTAN1c.5510T>A (p.Ile1837Asn)
c.5474T>A (p.Ile1825Asn)
c.4937T>A (p.Ile1646Asn)
c.3097T>A
c.1084T>A
n.702T>A
c.5399T>A (p.Ile1800Asn)
c.5459T>A (p.Ile1820Asn)
c.5414T>A (p.Ile1805Asn)
c.5495T>A (p.Ile1832Asn)
c.5450T>A (p.Ile1817Asn)
c.5435T>A (p.Ile1812Asn)
9g.128617756T>CCA375076626SPTAN1c.5510T>C (p.Ile1837Thr)
c.5474T>C (p.Ile1825Thr)
c.4937T>C (p.Ile1646Thr)
c.3097T>C
c.1084T>C
n.702T>C
c.5399T>C (p.Ile1800Thr)
c.5459T>C (p.Ile1820Thr)
c.5414T>C (p.Ile1805Thr)
c.5495T>C (p.Ile1832Thr)
c.5450T>C (p.Ile1817Thr)
c.5435T>C (p.Ile1812Thr)
 gnomAD v4
9g.128617756T>GCA375076623SPTAN1c.5510T>G (p.Ile1837Ser)
c.5474T>G (p.Ile1825Ser)
c.4937T>G (p.Ile1646Ser)
c.3097T>G
c.1084T>G
n.702T>G
c.5399T>G (p.Ile1800Ser)
c.5459T>G (p.Ile1820Ser)
c.5414T>G (p.Ile1805Ser)
c.5495T>G (p.Ile1832Ser)
c.5450T>G (p.Ile1817Ser)
c.5435T>G (p.Ile1812Ser)
9g.128617757T>ACA467303811SPTAN1c.5511T>A (p.Ile1837=)
c.5475T>A (p.Ile1825=)
c.4938T>A (p.Ile1646=)
c.3098T>A
c.1085T>A
n.703T>A
c.5400T>A (p.Ile1800=)
c.5460T>A (p.Ile1820=)
c.5415T>A (p.Ile1805=)
c.5496T>A (p.Ile1832=)
c.5451T>A (p.Ile1817=)
c.5436T>A (p.Ile1812=)
9g.128617757T>CCA467303812SPTAN1c.5511T>C (p.Ile1837=)
c.5475T>C (p.Ile1825=)
c.4938T>C (p.Ile1646=)
c.3098T>C
c.1085T>C
n.703T>C
c.5400T>C (p.Ile1800=)
c.5460T>C (p.Ile1820=)
c.5415T>C (p.Ile1805=)
c.5496T>C (p.Ile1832=)
c.5451T>C (p.Ile1817=)
c.5436T>C (p.Ile1812=)
9g.128617757T>GCA375076635SPTAN1c.5511T>G (p.Ile1837Met)
c.5475T>G (p.Ile1825Met)
c.4938T>G (p.Ile1646Met)
c.3098T>G
c.1085T>G
n.703T>G
c.5400T>G (p.Ile1800Met)
c.5460T>G (p.Ile1820Met)
c.5415T>G (p.Ile1805Met)
c.5496T>G (p.Ile1832Met)
c.5451T>G (p.Ile1817Met)
c.5436T>G (p.Ile1812Met)
9g.128617758C>ACA375076638SPTAN1c.5512C>A (p.Gln1838Lys)
c.5476C>A (p.Gln1826Lys)
c.4939C>A (p.Gln1647Lys)
c.3099C>A
c.1086C>A
n.704C>A
c.5401C>A (p.Gln1801Lys)
c.5461C>A (p.Gln1821Lys)
c.5416C>A (p.Gln1806Lys)
c.5497C>A (p.Gln1833Lys)
c.5452C>A (p.Gln1818Lys)
c.5437C>A (p.Gln1813Lys)
9g.128617758C>GCA375076642SPTAN1c.5512C>G (p.Gln1838Glu)
c.5476C>G (p.Gln1826Glu)
c.4939C>G (p.Gln1647Glu)
c.3099C>G
c.1086C>G
n.704C>G
c.5401C>G (p.Gln1801Glu)
c.5461C>G (p.Gln1821Glu)
c.5416C>G (p.Gln1806Glu)
c.5497C>G (p.Gln1833Glu)
c.5452C>G (p.Gln1818Glu)
c.5437C>G (p.Gln1813Glu)
9g.128617758C>TCA375076648SPTAN1c.5512C>T (p.Gln1838Ter)
c.5476C>T (p.Gln1826Ter)
c.4939C>T (p.Gln1647Ter)
c.3099C>T
c.1086C>T
n.704C>T
c.5401C>T (p.Gln1801Ter)
c.5461C>T (p.Gln1821Ter)
c.5416C>T (p.Gln1806Ter)
c.5497C>T (p.Gln1833Ter)
c.5452C>T (p.Gln1818Ter)
c.5437C>T (p.Gln1813Ter)
9g.128617759A>CCA375076650SPTAN1c.5513A>C (p.Gln1838Pro)
c.5477A>C (p.Gln1826Pro)
c.4940A>C (p.Gln1647Pro)
c.3100A>C
c.1087A>C
n.705A>C
c.5402A>C (p.Gln1801Pro)
c.5462A>C (p.Gln1821Pro)
c.5417A>C (p.Gln1806Pro)
c.5498A>C (p.Gln1833Pro)
c.5453A>C (p.Gln1818Pro)
c.5438A>C (p.Gln1813Pro)
9g.128617759A>GCA375076661SPTAN1c.5513A>G (p.Gln1838Arg)
c.5477A>G (p.Gln1826Arg)
c.4940A>G (p.Gln1647Arg)
c.3100A>G
c.1087A>G
n.705A>G
c.5402A>G (p.Gln1801Arg)
c.5462A>G (p.Gln1821Arg)
c.5417A>G (p.Gln1806Arg)
c.5498A>G (p.Gln1833Arg)
c.5453A>G (p.Gln1818Arg)
c.5438A>G (p.Gln1813Arg)
9g.128617759A>TCA375076664SPTAN1c.5513A>T (p.Gln1838Leu)
c.5477A>T (p.Gln1826Leu)
c.4940A>T (p.Gln1647Leu)
c.3100A>T
c.1087A>T
n.705A>T
c.5402A>T (p.Gln1801Leu)
c.5462A>T (p.Gln1821Leu)
c.5417A>T (p.Gln1806Leu)
c.5498A>T (p.Gln1833Leu)
c.5453A>T (p.Gln1818Leu)
c.5438A>T (p.Gln1813Leu)
9g.128617760G>ACA467303813SPTAN1c.5514G>A (p.Gln1838=)
c.5478G>A (p.Gln1826=)
c.4941G>A (p.Gln1647=)
c.3101G>A
c.1088G>A
n.706G>A
c.5403G>A (p.Gln1801=)
c.5463G>A (p.Gln1821=)
c.5418G>A (p.Gln1806=)
c.5499G>A (p.Gln1833=)
c.5454G>A (p.Gln1818=)
c.5439G>A (p.Gln1813=)
 dbSNP gnomAD v3 gnomAD v4
9g.128617760G>CCA375076667SPTAN1c.5514G>C (p.Gln1838His)
c.5478G>C (p.Gln1826His)
c.4941G>C (p.Gln1647His)
c.3101G>C
c.1088G>C
n.706G>C
c.5403G>C (p.Gln1801His)
c.5463G>C (p.Gln1821His)
c.5418G>C (p.Gln1806His)
c.5499G>C (p.Gln1833His)
c.5454G>C (p.Gln1818His)
c.5439G>C (p.Gln1813His)
9g.128617760G=CA1880364205SPTAN1c.5514G= (p.Gln1838=)
c.5478G= (p.Gln1826=)
c.4941G= (p.Gln1647=)
c.3101G=
c.1088G=
n.706G=
c.5403G= (p.Gln1801=)
c.5463G= (p.Gln1821=)
c.5418G= (p.Gln1806=)
c.5499G= (p.Gln1833=)
c.5454G= (p.Gln1818=)
c.5439G= (p.Gln1813=)
9g.128617760G>TCA375076670SPTAN1c.5514G>T (p.Gln1838His)
c.5478G>T (p.Gln1826His)
c.4941G>T (p.Gln1647His)
c.3101G>T
c.1088G>T
n.706G>T
c.5403G>T (p.Gln1801His)
c.5463G>T (p.Gln1821His)
c.5418G>T (p.Gln1806His)
c.5499G>T (p.Gln1833His)
c.5454G>T (p.Gln1818His)
c.5439G>T (p.Gln1813His)
9g.128617761G>ACA375076673SPTAN1c.5514+1G>A (n.5514+1G>A)
c.5478+1G>A (n.5478+1G>A)
c.4941+1G>A (n.4941+1G>A)
c.3101+1G>A
c.1088+1G>A
n.706+1G>A
c.5403+1G>A (n.5403+1G>A)
c.5463+1G>A (n.5463+1G>A)
c.5418+1G>A (n.5418+1G>A)
c.5499+1G>A (n.5499+1G>A)
c.5454+1G>A (n.5454+1G>A)
c.5439+1G>A (n.5439+1G>A)
9g.128617761G>CCA375076676SPTAN1c.5514+1G>C (n.5514+1G>C)
c.5478+1G>C (n.5478+1G>C)
c.4941+1G>C (n.4941+1G>C)
c.3101+1G>C
c.1088+1G>C
n.706+1G>C
c.5403+1G>C (n.5403+1G>C)
c.5463+1G>C (n.5463+1G>C)
c.5418+1G>C (n.5418+1G>C)
c.5499+1G>C (n.5499+1G>C)
c.5454+1G>C (n.5454+1G>C)
c.5439+1G>C (n.5439+1G>C)
9g.128617761G>TCA375076681SPTAN1c.5514+1G>T (n.5514+1G>T)
c.5478+1G>T (n.5478+1G>T)
c.4941+1G>T (n.4941+1G>T)
c.3101+1G>T
c.1088+1G>T
n.706+1G>T
c.5403+1G>T (n.5403+1G>T)
c.5463+1G>T (n.5463+1G>T)
c.5418+1G>T (n.5418+1G>T)
c.5499+1G>T (n.5499+1G>T)
c.5454+1G>T (n.5454+1G>T)
c.5439+1G>T (n.5439+1G>T)
9g.128617762T>ACA375076683SPTAN1c.5514+2T>A (n.5514+2T>A)
c.5478+2T>A (n.5478+2T>A)
c.4941+2T>A (n.4941+2T>A)
c.3101+2T>A
c.1088+2T>A
n.706+2T>A
c.5403+2T>A (n.5403+2T>A)
c.5463+2T>A (n.5463+2T>A)
c.5418+2T>A (n.5418+2T>A)
c.5499+2T>A (n.5499+2T>A)
c.5454+2T>A (n.5454+2T>A)
c.5439+2T>A (n.5439+2T>A)
 gnomAD v4
9g.128617762T>CCA375076684SPTAN1c.5514+2T>C (n.5514+2T>C)
c.5478+2T>C (n.5478+2T>C)
c.4941+2T>C (n.4941+2T>C)
c.3101+2T>C
c.1088+2T>C
n.706+2T>C
c.5403+2T>C (n.5403+2T>C)
c.5463+2T>C (n.5463+2T>C)
c.5418+2T>C (n.5418+2T>C)
c.5499+2T>C (n.5499+2T>C)
c.5454+2T>C (n.5454+2T>C)
c.5439+2T>C (n.5439+2T>C)
9g.128617762T>GCA375076682SPTAN1c.5514+2T>G (n.5514+2T>G)
c.5478+2T>G (n.5478+2T>G)
c.4941+2T>G (n.4941+2T>G)
c.3101+2T>G
c.1088+2T>G
n.706+2T>G
c.5403+2T>G (n.5403+2T>G)
c.5463+2T>G (n.5463+2T>G)
c.5418+2T>G (n.5418+2T>G)
c.5499+2T>G (n.5499+2T>G)
c.5454+2T>G (n.5454+2T>G)
c.5439+2T>G (n.5439+2T>G)
 dbSNP gnomAD v4
9g.128617762T=CA1880364206SPTAN1c.5514+2T= (n.5514+2T=)
c.5478+2T= (n.5478+2T=)
c.4941+2T= (n.4941+2T=)
c.3101+2T=
c.1088+2T=
n.706+2T=
c.5403+2T= (n.5403+2T=)
c.5463+2T= (n.5463+2T=)
c.5418+2T= (n.5418+2T=)
c.5499+2T= (n.5499+2T=)
c.5454+2T= (n.5454+2T=)
c.5439+2T= (n.5439+2T=)
9g.128617763A=CA1880364207SPTAN1c.5514+3A= (n.5514+3A=)
c.5478+3A= (n.5478+3A=)
c.4941+3A= (n.4941+3A=)
c.3101+3A=
c.1088+3A=
n.706+3A=
c.5403+3A= (n.5403+3A=)
c.5463+3A= (n.5463+3A=)
c.5418+3A= (n.5418+3A=)
c.5499+3A= (n.5499+3A=)
c.5454+3A= (n.5454+3A=)
c.5439+3A= (n.5439+3A=)
9g.128617763A>GCA860270243SPTAN1c.5514+3A>G (n.5514+3A>G)
c.5478+3A>G (n.5478+3A>G)
c.4941+3A>G (n.4941+3A>G)
c.3101+3A>G
c.1088+3A>G
n.706+3A>G
c.5403+3A>G (n.5403+3A>G)
c.5463+3A>G (n.5463+3A>G)
c.5418+3A>G (n.5418+3A>G)
c.5499+3A>G (n.5499+3A>G)
c.5454+3A>G (n.5454+3A>G)
c.5439+3A>G (n.5439+3A>G)
 dbSNP
9g.128617764A=CA1880364208SPTAN1c.5514+4A= (n.5514+4A=)
c.5478+4A= (n.5478+4A=)
c.4941+4A= (n.4941+4A=)
c.3101+4A=
c.1088+4A=
n.706+4A=
c.5403+4A= (n.5403+4A=)
c.5463+4A= (n.5463+4A=)
c.5418+4A= (n.5418+4A=)
c.5499+4A= (n.5499+4A=)
c.5454+4A= (n.5454+4A=)
c.5439+4A= (n.5439+4A=)
9g.128617764A>GCA590638558SPTAN1c.5514+4A>G (n.5514+4A>G)
c.5478+4A>G (n.5478+4A>G)
c.4941+4A>G (n.4941+4A>G)
c.3101+4A>G
c.1088+4A>G
n.706+4A>G
c.5403+4A>G (n.5403+4A>G)
c.5463+4A>G (n.5463+4A>G)
c.5418+4A>G (n.5418+4A>G)
c.5499+4A>G (n.5499+4A>G)
c.5454+4A>G (n.5454+4A>G)
c.5439+4A>G (n.5439+4A>G)
 dbSNP gnomAD v2 gnomAD v4
9g.128617766G>ACA2691935555SPTAN1c.5514+6G>A (n.5514+6G>A)
c.5478+6G>A (n.5478+6G>A)
c.4941+6G>A (n.4941+6G>A)
c.3101+6G>A
c.1088+6G>A
n.706+6G>A
c.5403+6G>A (n.5403+6G>A)
c.5463+6G>A (n.5463+6G>A)
c.5418+6G>A (n.5418+6G>A)
c.5499+6G>A (n.5499+6G>A)
c.5454+6G>A (n.5454+6G>A)
c.5439+6G>A (n.5439+6G>A)
 gnomAD v4
9g.128617767A=CA1880364209SPTAN1c.5514+7A= (n.5514+7A=)
c.5478+7A= (n.5478+7A=)
c.4941+7A= (n.4941+7A=)
c.3101+7A=
c.1088+7A=
n.706+7A=
c.5403+7A= (n.5403+7A=)
c.5463+7A= (n.5463+7A=)
c.5418+7A= (n.5418+7A=)
c.5499+7A= (n.5499+7A=)
c.5454+7A= (n.5454+7A=)
c.5439+7A= (n.5439+7A=)
9g.128617768G>ACA5265462SPTAN1c.5514+8G>A (n.5514+8G>A)
c.5478+8G>A (n.5478+8G>A)
c.4941+8G>A (n.4941+8G>A)
c.3101+8G>A
c.1088+8G>A
n.706+8G>A
c.5403+8G>A (n.5403+8G>A)
c.5463+8G>A (n.5463+8G>A)
c.5418+8G>A (n.5418+8G>A)
c.5499+8G>A (n.5499+8G>A)
c.5454+8G>A (n.5454+8G>A)
c.5439+8G>A (n.5439+8G>A)
 dbSNP ExAC gnomAD v2
9g.128617768G=CA1880364210SPTAN1c.5514+8G= (n.5514+8G=)
c.5478+8G= (n.5478+8G=)
c.4941+8G= (n.4941+8G=)
c.3101+8G=
c.1088+8G=
n.706+8G=
c.5403+8G= (n.5403+8G=)
c.5463+8G= (n.5463+8G=)
c.5418+8G= (n.5418+8G=)
c.5499+8G= (n.5499+8G=)
c.5454+8G= (n.5454+8G=)
c.5439+8G= (n.5439+8G=)
9g.128617769_128617772dupCA5265461SPTAN1c.5514+9_5514+12dup (n.5514+9_5514+12dup)
c.5478+9_5478+12dup (n.5478+9_5478+12dup)
c.4941+9_4941+12dup (n.4941+9_4941+12dup)
c.3101+9_3101+12dup
c.1088+9_1088+12dup
n.706+9_706+12dup
c.5403+9_5403+12dup (n.5403+9_5403+12dup)
c.5463+9_5463+12dup (n.5463+9_5463+12dup)
c.5418+9_5418+12dup (n.5418+9_5418+12dup)
c.5499+9_5499+12dup (n.5499+9_5499+12dup)
c.5454+9_5454+12dup (n.5454+9_5454+12dup)
c.5439+9_5439+12dup (n.5439+9_5439+12dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128617771C=CA1880364211SPTAN1c.5514+11C= (n.5514+11C=)
c.5478+11C= (n.5478+11C=)
c.4941+11C= (n.4941+11C=)
c.3101+11C=
c.1088+11C=
n.706+11C=
c.5403+11C= (n.5403+11C=)
c.5463+11C= (n.5463+11C=)
c.5418+11C= (n.5418+11C=)
c.5499+11C= (n.5499+11C=)
c.5454+11C= (n.5454+11C=)
c.5439+11C= (n.5439+11C=)
9g.128617771C>TCA200401653SPTAN1c.5514+11C>T (n.5514+11C>T)
c.5478+11C>T (n.5478+11C>T)
c.4941+11C>T (n.4941+11C>T)
c.3101+11C>T
c.1088+11C>T
n.706+11C>T
c.5403+11C>T (n.5403+11C>T)
c.5463+11C>T (n.5463+11C>T)
c.5418+11C>T (n.5418+11C>T)
c.5499+11C>T (n.5499+11C>T)
c.5454+11C>T (n.5454+11C>T)
c.5439+11C>T (n.5439+11C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.128617772G>ACA173580SPTAN1c.5514+12G>A (n.5514+12G>A)
c.5478+12G>A (n.5478+12G>A)
c.4941+12G>A (n.4941+12G>A)
c.3101+12G>A
c.1088+12G>A
n.706+12G>A
c.5403+12G>A (n.5403+12G>A)
c.5463+12G>A (n.5463+12G>A)
c.5418+12G>A (n.5418+12G>A)
c.5499+12G>A (n.5499+12G>A)
c.5454+12G>A (n.5454+12G>A)
c.5439+12G>A (n.5439+12G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128617772G=CA1880364212SPTAN1c.5514+12G= (n.5514+12G=)
c.5478+12G= (n.5478+12G=)
c.4941+12G= (n.4941+12G=)
c.3101+12G=
c.1088+12G=
n.706+12G=
c.5403+12G= (n.5403+12G=)
c.5463+12G= (n.5463+12G=)
c.5418+12G= (n.5418+12G=)
c.5499+12G= (n.5499+12G=)
c.5454+12G= (n.5454+12G=)
c.5439+12G= (n.5439+12G=)
9g.128617772G>TCA860270253SPTAN1c.5514+12G>T (n.5514+12G>T)
c.5478+12G>T (n.5478+12G>T)
c.4941+12G>T (n.4941+12G>T)
c.3101+12G>T
c.1088+12G>T
n.706+12G>T
c.5403+12G>T (n.5403+12G>T)
c.5463+12G>T (n.5463+12G>T)
c.5418+12G>T (n.5418+12G>T)
c.5499+12G>T (n.5499+12G>T)
c.5454+12G>T (n.5454+12G>T)
c.5439+12G>T (n.5439+12G>T)
 dbSNP gnomAD v3 gnomAD v4
9g.128617773C=CA1880364213SPTAN1c.5514+13C= (n.5514+13C=)
c.5478+13C= (n.5478+13C=)
c.4941+13C= (n.4941+13C=)
c.3101+13C=
c.1088+13C=
n.706+13C=
c.5403+13C= (n.5403+13C=)
c.5463+13C= (n.5463+13C=)
c.5418+13C= (n.5418+13C=)
c.5499+13C= (n.5499+13C=)
c.5454+13C= (n.5454+13C=)
c.5439+13C= (n.5439+13C=)
9g.128617773C>TCA5265463SPTAN1c.5514+13C>T (n.5514+13C>T)
c.5478+13C>T (n.5478+13C>T)
c.4941+13C>T (n.4941+13C>T)
c.3101+13C>T
c.1088+13C>T
n.706+13C>T
c.5403+13C>T (n.5403+13C>T)
c.5463+13C>T (n.5463+13C>T)
c.5418+13C>T (n.5418+13C>T)
c.5499+13C>T (n.5499+13C>T)
c.5454+13C>T (n.5454+13C>T)
c.5439+13C>T (n.5439+13C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128617774C=CA1880364214SPTAN1c.5514+14C= (n.5514+14C=)
c.5478+14C= (n.5478+14C=)
c.4941+14C= (n.4941+14C=)
c.3101+14C=
c.1088+14C=
n.706+14C=
c.5403+14C= (n.5403+14C=)
c.5463+14C= (n.5463+14C=)
c.5418+14C= (n.5418+14C=)
c.5499+14C= (n.5499+14C=)
c.5454+14C= (n.5454+14C=)
c.5439+14C= (n.5439+14C=)
9g.128617774C>GCA2691935556SPTAN1c.5514+14C>G (n.5514+14C>G)
c.5478+14C>G (n.5478+14C>G)
c.4941+14C>G (n.4941+14C>G)
c.3101+14C>G
c.1088+14C>G
n.706+14C>G
c.5403+14C>G (n.5403+14C>G)
c.5463+14C>G (n.5463+14C>G)
c.5418+14C>G (n.5418+14C>G)
c.5499+14C>G (n.5499+14C>G)
c.5454+14C>G (n.5454+14C>G)
c.5439+14C>G (n.5439+14C>G)
 dbSNP gnomAD v4
9g.128617774C>TCA860270258SPTAN1c.5514+14C>T (n.5514+14C>T)
c.5478+14C>T (n.5478+14C>T)
c.4941+14C>T (n.4941+14C>T)
c.3101+14C>T
c.1088+14C>T
n.706+14C>T
c.5403+14C>T (n.5403+14C>T)
c.5463+14C>T (n.5463+14C>T)
c.5418+14C>T (n.5418+14C>T)
c.5499+14C>T (n.5499+14C>T)
c.5454+14C>T (n.5454+14C>T)
c.5439+14C>T (n.5439+14C>T)
 dbSNP gnomAD v3 gnomAD v4
9g.128617779G>ACA2691935557SPTAN1c.5514+19G>A (n.5514+19G>A)
c.5478+19G>A (n.5478+19G>A)
c.4941+19G>A (n.4941+19G>A)
c.3101+19G>A
c.1088+19G>A
n.706+19G>A
c.5403+19G>A (n.5403+19G>A)
c.5463+19G>A (n.5463+19G>A)
c.5418+19G>A (n.5418+19G>A)
c.5499+19G>A (n.5499+19G>A)
c.5454+19G>A (n.5454+19G>A)
c.5439+19G>A (n.5439+19G>A)
 gnomAD v4
9g.128617779G=CA1880364215SPTAN1c.5514+19G= (n.5514+19G=)
c.5478+19G= (n.5478+19G=)
c.4941+19G= (n.4941+19G=)
c.3101+19G=
c.1088+19G=
n.706+19G=
c.5403+19G= (n.5403+19G=)
c.5463+19G= (n.5463+19G=)
c.5418+19G= (n.5418+19G=)
c.5499+19G= (n.5499+19G=)
c.5454+19G= (n.5454+19G=)
c.5439+19G= (n.5439+19G=)
9g.128617779G>TCA1880364216SPTAN1c.5514+19G>T (n.5514+19G>T)
c.5478+19G>T (n.5478+19G>T)
c.4941+19G>T (n.4941+19G>T)
c.3101+19G>T
c.1088+19G>T
n.706+19G>T
c.5403+19G>T (n.5403+19G>T)
c.5463+19G>T (n.5463+19G>T)
c.5418+19G>T (n.5418+19G>T)
c.5499+19G>T (n.5499+19G>T)
c.5454+19G>T (n.5454+19G>T)
c.5439+19G>T (n.5439+19G>T)
 dbSNP
9g.128617780G>ACA200401658SPTAN1c.5514+20G>A (n.5514+20G>A)
c.5478+20G>A (n.5478+20G>A)
c.4941+20G>A (n.4941+20G>A)
c.3101+20G>A
c.1088+20G>A
n.706+20G>A
c.5403+20G>A (n.5403+20G>A)
c.5463+20G>A (n.5463+20G>A)
c.5418+20G>A (n.5418+20G>A)
c.5499+20G>A (n.5499+20G>A)
c.5454+20G>A (n.5454+20G>A)
c.5439+20G>A (n.5439+20G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.128617780G=CA1880364217SPTAN1c.5514+20G= (n.5514+20G=)
c.5478+20G= (n.5478+20G=)
c.4941+20G= (n.4941+20G=)
c.3101+20G=
c.1088+20G=
n.706+20G=
c.5403+20G= (n.5403+20G=)
c.5463+20G= (n.5463+20G=)
c.5418+20G= (n.5418+20G=)
c.5499+20G= (n.5499+20G=)
c.5454+20G= (n.5454+20G=)
c.5439+20G= (n.5439+20G=)
9g.128617781C>TCA2691935558SPTAN1c.5514+21C>T (n.5514+21C>T)
c.5478+21C>T (n.5478+21C>T)
c.4941+21C>T (n.4941+21C>T)
c.3101+21C>T
c.1088+21C>T
n.706+21C>T
c.5403+21C>T (n.5403+21C>T)
c.5463+21C>T (n.5463+21C>T)
c.5418+21C>T (n.5418+21C>T)
c.5499+21C>T (n.5499+21C>T)
c.5454+21C>T (n.5454+21C>T)
c.5439+21C>T (n.5439+21C>T)
 gnomAD v4
9g.128617787G>ACA5265464SPTAN1c.5514+27G>A (n.5514+27G>A)
c.5478+27G>A (n.5478+27G>A)
c.4941+27G>A (n.4941+27G>A)
c.3101+27G>A
c.1088+27G>A
n.706+27G>A
c.5403+27G>A (n.5403+27G>A)
c.5463+27G>A (n.5463+27G>A)
c.5418+27G>A (n.5418+27G>A)
c.5499+27G>A (n.5499+27G>A)
c.5454+27G>A (n.5454+27G>A)
c.5439+27G>A (n.5439+27G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.128617787G=CA1880364218SPTAN1c.5514+27G= (n.5514+27G=)
c.5478+27G= (n.5478+27G=)
c.4941+27G= (n.4941+27G=)
c.3101+27G=
c.1088+27G=
n.706+27G=
c.5403+27G= (n.5403+27G=)
c.5463+27G= (n.5463+27G=)
c.5418+27G= (n.5418+27G=)
c.5499+27G= (n.5499+27G=)
c.5454+27G= (n.5454+27G=)
c.5439+27G= (n.5439+27G=)
9g.128617788G>TCA653786014SPTAN1c.5514+28G>T (n.5514+28G>T)
c.5478+28G>T (n.5478+28G>T)
c.4941+28G>T (n.4941+28G>T)
c.3101+28G>T
c.1088+28G>T
n.706+28G>T
c.5403+28G>T (n.5403+28G>T)
c.5463+28G>T (n.5463+28G>T)
c.5418+28G>T (n.5418+28G>T)
c.5499+28G>T (n.5499+28G>T)
c.5454+28G>T (n.5454+28G>T)
c.5439+28G>T (n.5439+28G>T)
 COSMIC
9g.128617789G>ACA5265465SPTAN1c.5514+29G>A (n.5514+29G>A)
c.5478+29G>A (n.5478+29G>A)
c.4941+29G>A (n.4941+29G>A)
c.3101+29G>A
c.1088+29G>A
n.706+29G>A
c.5403+29G>A (n.5403+29G>A)
c.5463+29G>A (n.5463+29G>A)
c.5418+29G>A (n.5418+29G>A)
c.5499+29G>A (n.5499+29G>A)
c.5454+29G>A (n.5454+29G>A)
c.5439+29G>A (n.5439+29G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128617789G=CA1880364219SPTAN1c.5514+29G= (n.5514+29G=)
c.5478+29G= (n.5478+29G=)
c.4941+29G= (n.4941+29G=)
c.3101+29G=
c.1088+29G=
n.706+29G=
c.5403+29G= (n.5403+29G=)
c.5463+29G= (n.5463+29G=)
c.5418+29G= (n.5418+29G=)
c.5499+29G= (n.5499+29G=)
c.5454+29G= (n.5454+29G=)
c.5439+29G= (n.5439+29G=)
9g.128617790C>ACA590638564SPTAN1c.5514+30C>A (n.5514+30C>A)
c.5478+30C>A (n.5478+30C>A)
c.4941+30C>A (n.4941+30C>A)
c.3101+30C>A
c.1088+30C>A
n.706+30C>A
c.5403+30C>A (n.5403+30C>A)
c.5463+30C>A (n.5463+30C>A)
c.5418+30C>A (n.5418+30C>A)
c.5499+30C>A (n.5499+30C>A)
c.5454+30C>A (n.5454+30C>A)
c.5439+30C>A (n.5439+30C>A)
 dbSNP gnomAD v2 gnomAD v4
9g.128617790C=CA1880364220SPTAN1c.5514+30C= (n.5514+30C=)
c.5478+30C= (n.5478+30C=)
c.4941+30C= (n.4941+30C=)
c.3101+30C=
c.1088+30C=
n.706+30C=
c.5403+30C= (n.5403+30C=)
c.5463+30C= (n.5463+30C=)
c.5418+30C= (n.5418+30C=)
c.5499+30C= (n.5499+30C=)
c.5454+30C= (n.5454+30C=)
c.5439+30C= (n.5439+30C=)
9g.128617791_128617792delinsAGCA1880364221SPTAN1c.5514+31_5514+32delinsAG (n.5514+31_5514+32delinsAG)
c.5478+31_5478+32delinsAG (n.5478+31_5478+32delinsAG)
c.4941+31_4941+32delinsAG (n.4941+31_4941+32delinsAG)
c.3101+31_3101+32delinsAG
c.1088+31_1088+32delinsAG
n.706+31_706+32delinsAG
c.5403+31_5403+32delinsAG (n.5403+31_5403+32delinsAG)
c.5463+31_5463+32delinsAG (n.5463+31_5463+32delinsAG)
c.5418+31_5418+32delinsAG (n.5418+31_5418+32delinsAG)
c.5499+31_5499+32delinsAG (n.5499+31_5499+32delinsAG)
c.5454+31_5454+32delinsAG (n.5454+31_5454+32delinsAG)
c.5439+31_5439+32delinsAG (n.5439+31_5439+32delinsAG)
9g.128617792delCA918560842SPTAN1c.5514+32del (n.5514+32del)
c.5478+32del (n.5478+32del)
c.4941+32del (n.4941+32del)
c.3101+32del
c.1088+32del
n.706+32del
c.5403+32del (n.5403+32del)
c.5463+32del (n.5463+32del)
c.5418+32del (n.5418+32del)
c.5499+32del (n.5499+32del)
c.5454+32del (n.5454+32del)
c.5439+32del (n.5439+32del)
 dbSNP
9g.128617793_128617794delinsAGCA1880364222SPTAN1c.5514+33_5514+34delinsAG (n.5514+33_5514+34delinsAG)
c.5478+33_5478+34delinsAG (n.5478+33_5478+34delinsAG)
c.4941+33_4941+34delinsAG (n.4941+33_4941+34delinsAG)
c.3101+33_3101+34delinsAG
c.1088+33_1088+34delinsAG
n.706+33_706+34delinsAG
c.5403+33_5403+34delinsAG (n.5403+33_5403+34delinsAG)
c.5463+33_5463+34delinsAG (n.5463+33_5463+34delinsAG)
c.5418+33_5418+34delinsAG (n.5418+33_5418+34delinsAG)
c.5499+33_5499+34delinsAG (n.5499+33_5499+34delinsAG)
c.5454+33_5454+34delinsAG (n.5454+33_5454+34delinsAG)
c.5439+33_5439+34delinsAG (n.5439+33_5439+34delinsAG)
9g.128617794G>ACA590638565SPTAN1c.5514+34G>A (n.5514+34G>A)
c.5478+34G>A (n.5478+34G>A)
c.4941+34G>A (n.4941+34G>A)
c.3101+34G>A
c.1088+34G>A
n.706+34G>A
c.5403+34G>A (n.5403+34G>A)
c.5463+34G>A (n.5463+34G>A)
c.5418+34G>A (n.5418+34G>A)
c.5499+34G>A (n.5499+34G>A)
c.5454+34G>A (n.5454+34G>A)
c.5439+34G>A (n.5439+34G>A)
 dbSNP gnomAD v2 gnomAD v4
9g.128617794G=CA1880364223SPTAN1c.5514+34G= (n.5514+34G=)
c.5478+34G= (n.5478+34G=)
c.4941+34G= (n.4941+34G=)
c.3101+34G=
c.1088+34G=
n.706+34G=
c.5403+34G= (n.5403+34G=)
c.5463+34G= (n.5463+34G=)
c.5418+34G= (n.5418+34G=)
c.5499+34G= (n.5499+34G=)
c.5454+34G= (n.5454+34G=)
c.5439+34G= (n.5439+34G=)
9g.128617794G>TCA2691935559SPTAN1c.5514+34G>T (n.5514+34G>T)
c.5478+34G>T (n.5478+34G>T)
c.4941+34G>T (n.4941+34G>T)
c.3101+34G>T
c.1088+34G>T
n.706+34G>T
c.5403+34G>T (n.5403+34G>T)
c.5463+34G>T (n.5463+34G>T)
c.5418+34G>T (n.5418+34G>T)
c.5499+34G>T (n.5499+34G>T)
c.5454+34G>T (n.5454+34G>T)
c.5439+34G>T (n.5439+34G>T)
 gnomAD v4
9g.128617795delCA5265466SPTAN1c.5514+35del (n.5514+35del)
c.5478+35del (n.5478+35del)
c.4941+35del (n.4941+35del)
c.3101+35del
c.1088+35del
n.706+35del
c.5403+35del (n.5403+35del)
c.5463+35del (n.5463+35del)
c.5418+35del (n.5418+35del)
c.5499+35del (n.5499+35del)
c.5454+35del (n.5454+35del)
c.5439+35del (n.5439+35del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128617797G>ACA1880364225SPTAN1c.5514+37G>A (n.5514+37G>A)
c.5478+37G>A (n.5478+37G>A)
c.4941+37G>A (n.4941+37G>A)
c.3101+37G>A
c.1088+37G>A
n.706+37G>A
c.5403+37G>A (n.5403+37G>A)
c.5463+37G>A (n.5463+37G>A)
c.5418+37G>A (n.5418+37G>A)
c.5499+37G>A (n.5499+37G>A)
c.5454+37G>A (n.5454+37G>A)
c.5439+37G>A (n.5439+37G>A)
 dbSNP
9g.128617797G=CA1880364224SPTAN1c.5514+37G= (n.5514+37G=)
c.5478+37G= (n.5478+37G=)
c.4941+37G= (n.4941+37G=)
c.3101+37G=
c.1088+37G=
n.706+37G=
c.5403+37G= (n.5403+37G=)
c.5463+37G= (n.5463+37G=)
c.5418+37G= (n.5418+37G=)
c.5499+37G= (n.5499+37G=)
c.5454+37G= (n.5454+37G=)
c.5439+37G= (n.5439+37G=)
9g.128617798_128617799insCCA2786023051SPTAN1c.5514+38_5514+39insC (n.5514+38_5514+39insC)
c.5478+38_5478+39insC (n.5478+38_5478+39insC)
c.4941+38_4941+39insC (n.4941+38_4941+39insC)
c.3101+38_3101+39insC
c.1088+38_1088+39insC
n.706+38_706+39insC
c.5403+38_5403+39insC (n.5403+38_5403+39insC)
c.5463+38_5463+39insC (n.5463+38_5463+39insC)
c.5418+38_5418+39insC (n.5418+38_5418+39insC)
c.5499+38_5499+39insC (n.5499+38_5499+39insC)
c.5454+38_5454+39insC (n.5454+38_5454+39insC)
c.5439+38_5439+39insC (n.5439+38_5439+39insC)
9g.128617799T>ACA200401665SPTAN1c.5514+39T>A (n.5514+39T>A)
c.5478+39T>A (n.5478+39T>A)
c.4941+39T>A (n.4941+39T>A)
c.3101+39T>A
c.1088+39T>A
n.706+39T>A
c.5403+39T>A (n.5403+39T>A)
c.5463+39T>A (n.5463+39T>A)
c.5418+39T>A (n.5418+39T>A)
c.5499+39T>A (n.5499+39T>A)
c.5454+39T>A (n.5454+39T>A)
c.5439+39T>A (n.5439+39T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.128617799T=CA1880364226SPTAN1c.5514+39T= (n.5514+39T=)
c.5478+39T= (n.5478+39T=)
c.4941+39T= (n.4941+39T=)
c.3101+39T=
c.1088+39T=
n.706+39T=
c.5403+39T= (n.5403+39T=)
c.5463+39T= (n.5463+39T=)
c.5418+39T= (n.5418+39T=)
c.5499+39T= (n.5499+39T=)
c.5454+39T= (n.5454+39T=)
c.5439+39T= (n.5439+39T=)
9g.128617799_128617803delinsTTGAGCA1880364227SPTAN1c.5514+39_5514+43delinsTTGAG (n.5514+39_5514+43delinsTTGAG)
c.5478+39_5478+43delinsTTGAG (n.5478+39_5478+43delinsTTGAG)
c.4941+39_4941+43delinsTTGAG (n.4941+39_4941+43delinsTTGAG)
c.3101+39_3101+43delinsTTGAG
c.1088+39_1088+43delinsTTGAG
n.706+39_706+43delinsTTGAG
c.5403+39_5403+43delinsTTGAG (n.5403+39_5403+43delinsTTGAG)
c.5463+39_5463+43delinsTTGAG (n.5463+39_5463+43delinsTTGAG)
c.5418+39_5418+43delinsTTGAG (n.5418+39_5418+43delinsTTGAG)
c.5499+39_5499+43delinsTTGAG (n.5499+39_5499+43delinsTTGAG)
c.5454+39_5454+43delinsTTGAG (n.5454+39_5454+43delinsTTGAG)
c.5439+39_5439+43delinsTTGAG (n.5439+39_5439+43delinsTTGAG)
9g.128617802_128617805delCA1880364228SPTAN1c.5514+42_5514+45del (n.5514+42_5514+45del)
c.5478+42_5478+45del (n.5478+42_5478+45del)
c.4941+42_4941+45del (n.4941+42_4941+45del)
c.3101+42_3101+45del
c.1088+42_1088+45del
n.706+42_706+45del
c.5403+42_5403+45del (n.5403+42_5403+45del)
c.5463+42_5463+45del (n.5463+42_5463+45del)
c.5418+42_5418+45del (n.5418+42_5418+45del)
c.5499+42_5499+45del (n.5499+42_5499+45del)
c.5454+42_5454+45del (n.5454+42_5454+45del)
c.5439+42_5439+45del (n.5439+42_5439+45del)
 dbSNP gnomAD v4
9g.128617803G>ACA1880364230SPTAN1c.5514+43G>A (n.5514+43G>A)
c.5478+43G>A (n.5478+43G>A)
c.4941+43G>A (n.4941+43G>A)
c.3101+43G>A
c.1088+43G>A
n.706+43G>A
c.5403+43G>A (n.5403+43G>A)
c.5463+43G>A (n.5463+43G>A)
c.5418+43G>A (n.5418+43G>A)
c.5499+43G>A (n.5499+43G>A)
c.5454+43G>A (n.5454+43G>A)
c.5439+43G>A (n.5439+43G>A)
 dbSNP
9g.128617803G=CA1880364229SPTAN1c.5514+43G= (n.5514+43G=)
c.5478+43G= (n.5478+43G=)
c.4941+43G= (n.4941+43G=)
c.3101+43G=
c.1088+43G=
n.706+43G=
c.5403+43G= (n.5403+43G=)
c.5463+43G= (n.5463+43G=)
c.5418+43G= (n.5418+43G=)
c.5499+43G= (n.5499+43G=)
c.5454+43G= (n.5454+43G=)
c.5439+43G= (n.5439+43G=)
9g.128617805G>ACA5265467SPTAN1c.5514+45G>A (n.5514+45G>A)
c.5478+45G>A (n.5478+45G>A)
c.4941+45G>A (n.4941+45G>A)
c.3101+45G>A
c.1088+45G>A
n.706+45G>A
c.5403+45G>A (n.5403+45G>A)
c.5463+45G>A (n.5463+45G>A)
c.5418+45G>A (n.5418+45G>A)
c.5499+45G>A (n.5499+45G>A)
c.5454+45G>A (n.5454+45G>A)
c.5439+45G>A (n.5439+45G>A)
 dbSNP ExAC gnomAD v2
9g.128617805G=CA1880364231SPTAN1c.5514+45G= (n.5514+45G=)
c.5478+45G= (n.5478+45G=)
c.4941+45G= (n.4941+45G=)
c.3101+45G=
c.1088+45G=
n.706+45G=
c.5403+45G= (n.5403+45G=)
c.5463+45G= (n.5463+45G=)
c.5418+45G= (n.5418+45G=)
c.5499+45G= (n.5499+45G=)
c.5454+45G= (n.5454+45G=)
c.5439+45G= (n.5439+45G=)
9g.128617805G>TCA2533432272SPTAN1c.5514+45G>T (n.5514+45G>T)
c.5478+45G>T (n.5478+45G>T)
c.4941+45G>T (n.4941+45G>T)
c.3101+45G>T
c.1088+45G>T
n.706+45G>T
c.5403+45G>T (n.5403+45G>T)
c.5463+45G>T (n.5463+45G>T)
c.5418+45G>T (n.5418+45G>T)
c.5499+45G>T (n.5499+45G>T)
c.5454+45G>T (n.5454+45G>T)
c.5439+45G>T (n.5439+45G>T)
9g.128617806G>ACA590638568SPTAN1c.5514+46G>A (n.5514+46G>A)
c.5478+46G>A (n.5478+46G>A)
c.4941+46G>A (n.4941+46G>A)
c.3101+46G>A
c.1088+46G>A
n.706+46G>A
c.5403+46G>A (n.5403+46G>A)
c.5463+46G>A (n.5463+46G>A)
c.5418+46G>A (n.5418+46G>A)
c.5499+46G>A (n.5499+46G>A)
c.5454+46G>A (n.5454+46G>A)
c.5439+46G>A (n.5439+46G>A)
 dbSNP gnomAD v2
9g.128617806G>CCA2691935560SPTAN1c.5514+46G>C (n.5514+46G>C)
c.5478+46G>C (n.5478+46G>C)
c.4941+46G>C (n.4941+46G>C)
c.3101+46G>C
c.1088+46G>C
n.706+46G>C
c.5403+46G>C (n.5403+46G>C)
c.5463+46G>C (n.5463+46G>C)
c.5418+46G>C (n.5418+46G>C)
c.5499+46G>C (n.5499+46G>C)
c.5454+46G>C (n.5454+46G>C)
c.5439+46G>C (n.5439+46G>C)
 dbSNP gnomAD v4
9g.128617806G=CA1880364232SPTAN1c.5514+46G= (n.5514+46G=)
c.5478+46G= (n.5478+46G=)
c.4941+46G= (n.4941+46G=)
c.3101+46G=
c.1088+46G=
n.706+46G=
c.5403+46G= (n.5403+46G=)
c.5463+46G= (n.5463+46G=)
c.5418+46G= (n.5418+46G=)
c.5499+46G= (n.5499+46G=)
c.5454+46G= (n.5454+46G=)
c.5439+46G= (n.5439+46G=)
9g.128617807G=CA1880364233SPTAN1c.5514+47G= (n.5514+47G=)
c.5478+47G= (n.5478+47G=)
c.4941+47G= (n.4941+47G=)
c.3101+47G=
c.1088+47G=
n.706+47G=
c.5403+47G= (n.5403+47G=)
c.5463+47G= (n.5463+47G=)
c.5418+47G= (n.5418+47G=)
c.5499+47G= (n.5499+47G=)
c.5454+47G= (n.5454+47G=)
c.5439+47G= (n.5439+47G=)
9g.128617808C>ACA2691935561SPTAN1c.5514+48C>A (n.5514+48C>A)
c.5478+48C>A (n.5478+48C>A)
c.4941+48C>A (n.4941+48C>A)
c.3101+48C>A
c.1088+48C>A
n.706+48C>A
c.5403+48C>A (n.5403+48C>A)
c.5463+48C>A (n.5463+48C>A)
c.5418+48C>A (n.5418+48C>A)
c.5499+48C>A (n.5499+48C>A)
c.5454+48C>A (n.5454+48C>A)
c.5439+48C>A (n.5439+48C>A)
 gnomAD v4
9g.128617808C=CA1880364234SPTAN1c.5514+48C= (n.5514+48C=)
c.5478+48C= (n.5478+48C=)
c.4941+48C= (n.4941+48C=)
c.3101+48C=
c.1088+48C=
n.706+48C=
c.5403+48C= (n.5403+48C=)
c.5463+48C= (n.5463+48C=)
c.5418+48C= (n.5418+48C=)
c.5499+48C= (n.5499+48C=)
c.5454+48C= (n.5454+48C=)
c.5439+48C= (n.5439+48C=)
9g.128617808C>TCA5265468SPTAN1c.5514+48C>T (n.5514+48C>T)
c.5478+48C>T (n.5478+48C>T)
c.4941+48C>T (n.4941+48C>T)
c.3101+48C>T
c.1088+48C>T
n.706+48C>T
c.5403+48C>T (n.5403+48C>T)
c.5463+48C>T (n.5463+48C>T)
c.5418+48C>T (n.5418+48C>T)
c.5499+48C>T (n.5499+48C>T)
c.5454+48C>T (n.5454+48C>T)
c.5439+48C>T (n.5439+48C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128617811dupCA1129336727SPTAN1c.5514+51dup (n.5514+51dup)
c.5478+51dup (n.5478+51dup)
c.4941+51dup (n.4941+51dup)
c.3101+51dup
c.1088+51dup
n.706+51dup
c.5403+51dup (n.5403+51dup)
c.5463+51dup (n.5463+51dup)
c.5418+51dup (n.5418+51dup)
c.5499+51dup (n.5499+51dup)
c.5454+51dup (n.5454+51dup)
c.5439+51dup (n.5439+51dup)
 dbSNP gnomAD v3 gnomAD v4
9g.128617809C>ACA2579470240SPTAN1c.5514+49C>A (n.5514+49C>A)
c.5478+49C>A (n.5478+49C>A)
c.4941+49C>A (n.4941+49C>A)
c.3101+49C>A
c.1088+49C>A
n.706+49C>A
c.5403+49C>A (n.5403+49C>A)
c.5463+49C>A (n.5463+49C>A)
c.5418+49C>A (n.5418+49C>A)
c.5499+49C>A (n.5499+49C>A)
c.5454+49C>A (n.5454+49C>A)
c.5439+49C>A (n.5439+49C>A)
9g.128617810C=CA1880364235SPTAN1c.5514+50C= (n.5514+50C=)
c.5478+50C= (n.5478+50C=)
c.4941+50C= (n.4941+50C=)
c.3101+50C=
c.1088+50C=
n.706+50C=
c.5403+50C= (n.5403+50C=)
c.5463+50C= (n.5463+50C=)
c.5418+50C= (n.5418+50C=)
c.5499+50C= (n.5499+50C=)
c.5454+50C= (n.5454+50C=)
c.5439+50C= (n.5439+50C=)
9g.128617810C>TCA5265469SPTAN1c.5514+50C>T (n.5514+50C>T)
c.5478+50C>T (n.5478+50C>T)
c.4941+50C>T (n.4941+50C>T)
c.3101+50C>T
c.1088+50C>T
n.706+50C>T
c.5403+50C>T (n.5403+50C>T)
c.5463+50C>T (n.5463+50C>T)
c.5418+50C>T (n.5418+50C>T)
c.5499+50C>T (n.5499+50C>T)
c.5454+50C>T (n.5454+50C>T)
c.5439+50C>T (n.5439+50C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128617811C>ACA1880364237SPTAN1c.5514+51C>A (n.5514+51C>A)
c.5478+51C>A (n.5478+51C>A)
c.4941+51C>A (n.4941+51C>A)
c.3101+51C>A
c.1088+51C>A
n.706+51C>A
c.5403+51C>A (n.5403+51C>A)
c.5463+51C>A (n.5463+51C>A)
c.5418+51C>A (n.5418+51C>A)
c.5499+51C>A (n.5499+51C>A)
c.5454+51C>A (n.5454+51C>A)
c.5439+51C>A (n.5439+51C>A)
 dbSNP
9g.128617811C=CA1880364236SPTAN1c.5514+51C= (n.5514+51C=)
c.5478+51C= (n.5478+51C=)
c.4941+51C= (n.4941+51C=)
c.3101+51C=
c.1088+51C=
n.706+51C=
c.5403+51C= (n.5403+51C=)
c.5463+51C= (n.5463+51C=)
c.5418+51C= (n.5418+51C=)
c.5499+51C= (n.5499+51C=)
c.5454+51C= (n.5454+51C=)
c.5439+51C= (n.5439+51C=)

Number of alleles fetched