Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.215376508_215376534delCA2586965569FN1c.5858_5884del (p.Lys1953_Ile1961del)
c.5585_5611del (p.Lys1862_Ile1870del)
c.5315_5341del (p.Lys1772_Ile1780del)
c.5588_5614del (p.Lys1863_Ile1871del)
c.1736_1762del (p.Lys579_Ile587del)
n.943_969del
n.6995_7021del
n.132+2971_132+2997del
2g.215376519C>ACA350471169FN1c.5866G>T (p.Val1956Phe)
c.5593G>T (p.Val1865Phe)
c.5323G>T (p.Val1775Phe)
c.5596G>T (p.Val1866Phe)
c.1744G>T (p.Val582Phe)
n.951G>T
n.7003G>T
n.132+2982C>A
2g.215376519C>GCA350471171FN1c.5866G>C (p.Val1956Leu)
c.5593G>C (p.Val1865Leu)
c.5323G>C (p.Val1775Leu)
c.5596G>C (p.Val1866Leu)
c.1744G>C (p.Val582Leu)
n.951G>C
n.7003G>C
n.132+2982C>G
2g.215376519C>TCA350471172FN1c.5866G>A (p.Val1956Ile)
c.5593G>A (p.Val1865Ile)
c.5323G>A (p.Val1775Ile)
c.5596G>A (p.Val1866Ile)
c.1744G>A (p.Val582Ile)
n.951G>A
n.7003G>A
n.132+2982C>T
2g.215376520A>CCA350471174FN1c.5865T>G (p.Asp1955Glu)
c.5592T>G (p.Asp1864Glu)
c.5322T>G (p.Asp1774Glu)
c.5595T>G (p.Asp1865Glu)
c.1743T>G (p.Asp581Glu)
n.950T>G
n.7002T>G
n.132+2983A>C
2g.215376520A>GCA431154951FN1c.5865T>C (p.Asp1955=)
c.5592T>C (p.Asp1864=)
c.5322T>C (p.Asp1774=)
c.5595T>C (p.Asp1865=)
c.1743T>C (p.Asp581=)
n.950T>C
n.7002T>C
n.132+2983A>G
2g.215376520A>TCA350471175FN1c.5865T>A (p.Asp1955Glu)
c.5592T>A (p.Asp1864Glu)
c.5322T>A (p.Asp1774Glu)
c.5595T>A (p.Asp1865Glu)
c.1743T>A (p.Asp581Glu)
n.950T>A
n.7002T>A
n.132+2983A>T
2g.215376521T>ACA350471176FN1c.5864A>T (p.Asp1955Val)
c.5591A>T (p.Asp1864Val)
c.5321A>T (p.Asp1774Val)
c.5594A>T (p.Asp1865Val)
c.1742A>T (p.Asp581Val)
n.949A>T
n.7001A>T
n.132+2984T>A
2g.215376521T>CCA350471178FN1c.5864A>G (p.Asp1955Gly)
c.5591A>G (p.Asp1864Gly)
c.5321A>G (p.Asp1774Gly)
c.5594A>G (p.Asp1865Gly)
c.1742A>G (p.Asp581Gly)
n.949A>G
n.7001A>G
n.132+2984T>C
2g.215376521T>GCA350471181FN1c.5864A>C (p.Asp1955Ala)
c.5591A>C (p.Asp1864Ala)
c.5321A>C (p.Asp1774Ala)
c.5594A>C (p.Asp1865Ala)
c.1742A>C (p.Asp581Ala)
n.949A>C
n.7001A>C
n.132+2984T>G
2g.215376522C>ACA350471183FN1c.5863G>T (p.Asp1955Tyr)
c.5590G>T (p.Asp1864Tyr)
c.5320G>T (p.Asp1774Tyr)
c.5593G>T (p.Asp1865Tyr)
c.1741G>T (p.Asp581Tyr)
n.948G>T
n.7000G>T
n.132+2985C>A
2g.215376522C>GCA350471185FN1c.5863G>C (p.Asp1955His)
c.5590G>C (p.Asp1864His)
c.5320G>C (p.Asp1774His)
c.5593G>C (p.Asp1865His)
c.1741G>C (p.Asp581His)
n.948G>C
n.7000G>C
n.132+2985C>G
2g.215376522C>TCA350471186FN1c.5863G>A (p.Asp1955Asn)
c.5590G>A (p.Asp1864Asn)
c.5320G>A (p.Asp1774Asn)
c.5593G>A (p.Asp1865Asn)
c.1741G>A (p.Asp581Asn)
n.948G>A
n.7000G>A
n.132+2985C>T
2g.215376523T>ACA431154952FN1c.5862A>T (p.Pro1954=)
c.5589A>T (p.Pro1863=)
c.5319A>T (p.Pro1773=)
c.5592A>T (p.Pro1864=)
c.1740A>T (p.Pro580=)
n.947A>T
n.6999A>T
n.132+2986T>A
2g.215376523T>CCA431154953FN1c.5862A>G (p.Pro1954=)
c.5589A>G (p.Pro1863=)
c.5319A>G (p.Pro1773=)
c.5592A>G (p.Pro1864=)
c.1740A>G (p.Pro580=)
n.947A>G
n.6999A>G
n.132+2986T>C
2g.215376523T>GCA431154954FN1c.5862A>C (p.Pro1954=)
c.5589A>C (p.Pro1863=)
c.5319A>C (p.Pro1773=)
c.5592A>C (p.Pro1864=)
c.1740A>C (p.Pro580=)
n.947A>C
n.6999A>C
n.132+2986T>G
2g.215376524G>ACA350471188FN1c.5861C>T (p.Pro1954Leu)
c.5588C>T (p.Pro1863Leu)
c.5318C>T (p.Pro1773Leu)
c.5591C>T (p.Pro1864Leu)
c.1739C>T (p.Pro580Leu)
n.946C>T
n.6998C>T
n.132+2987G>A
 gnomAD v4
2g.215376524G>CCA350471190FN1c.5861C>G (p.Pro1954Arg)
c.5588C>G (p.Pro1863Arg)
c.5318C>G (p.Pro1773Arg)
c.5591C>G (p.Pro1864Arg)
c.1739C>G (p.Pro580Arg)
n.946C>G
n.6998C>G
n.132+2987G>C
2g.215376524G=CA1327346852FN1c.5861C= (p.Pro1954=)
c.5588C= (p.Pro1863=)
c.5318C= (p.Pro1773=)
c.5591C= (p.Pro1864=)
c.1739C= (p.Pro580=)
n.946C=
n.6998C=
n.132+2987G=
2g.215376524G>TCA350471192FN1c.5861C>A (p.Pro1954Gln)
c.5588C>A (p.Pro1863Gln)
c.5318C>A (p.Pro1773Gln)
c.5591C>A (p.Pro1864Gln)
c.1739C>A (p.Pro580Gln)
n.946C>A
n.6998C>A
n.132+2987G>T
 dbSNP gnomAD v4
2g.215376525G>ACA350471193FN1c.5860C>T (p.Pro1954Ser)
c.5587C>T (p.Pro1863Ser)
c.5317C>T (p.Pro1773Ser)
c.5590C>T (p.Pro1864Ser)
c.1738C>T (p.Pro580Ser)
n.945C>T
n.6997C>T
n.132+2988G>A
2g.215376525G>CCA2094021FN1c.5860C>G (p.Pro1954Ala)
c.5587C>G (p.Pro1863Ala)
c.5317C>G (p.Pro1773Ala)
c.5590C>G (p.Pro1864Ala)
c.1738C>G (p.Pro580Ala)
n.945C>G
n.6997C>G
n.132+2988G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215376525G=CA1327346853FN1c.5860C= (p.Pro1954=)
c.5587C= (p.Pro1863=)
c.5317C= (p.Pro1773=)
c.5590C= (p.Pro1864=)
c.1738C= (p.Pro580=)
n.945C=
n.6997C=
n.132+2988G=
2g.215376525G>TCA350471196FN1c.5860C>A (p.Pro1954Thr)
c.5587C>A (p.Pro1863Thr)
c.5317C>A (p.Pro1773Thr)
c.5590C>A (p.Pro1864Thr)
c.1738C>A (p.Pro580Thr)
n.945C>A
n.6997C>A
n.132+2988G>T
2g.215376526C>ACA350471198FN1c.5859G>T (p.Lys1953Asn)
c.5586G>T (p.Lys1862Asn)
c.5316G>T (p.Lys1772Asn)
c.5589G>T (p.Lys1863Asn)
c.1737G>T (p.Lys579Asn)
n.944G>T
n.6996G>T
n.132+2989C>A
2g.215376526C>GCA350471200FN1c.5859G>C (p.Lys1953Asn)
c.5586G>C (p.Lys1862Asn)
c.5316G>C (p.Lys1772Asn)
c.5589G>C (p.Lys1863Asn)
c.1737G>C (p.Lys579Asn)
n.944G>C
n.6996G>C
n.132+2989C>G
2g.215376526C>TCA431154955FN1c.5859G>A (p.Lys1953=)
c.5586G>A (p.Lys1862=)
c.5316G>A (p.Lys1772=)
c.5589G>A (p.Lys1863=)
c.1737G>A (p.Lys579=)
n.944G>A
n.6996G>A
n.132+2989C>T
2g.215376527T>ACA350471203FN1c.5858A>T (p.Lys1953Met)
c.5585A>T (p.Lys1862Met)
c.5315A>T (p.Lys1772Met)
c.5588A>T (p.Lys1863Met)
c.1736A>T (p.Lys579Met)
n.943A>T
n.6995A>T
n.132+2990T>A
 ClinVar
2g.215376527T>CCA350471205FN1c.5858A>G (p.Lys1953Arg)
c.5585A>G (p.Lys1862Arg)
c.5315A>G (p.Lys1772Arg)
c.5588A>G (p.Lys1863Arg)
c.1736A>G (p.Lys579Arg)
n.943A>G
n.6995A>G
n.132+2990T>C
2g.215376527T>GCA350471207FN1c.5858A>C (p.Lys1953Thr)
c.5585A>C (p.Lys1862Thr)
c.5315A>C (p.Lys1772Thr)
c.5588A>C (p.Lys1863Thr)
c.1736A>C (p.Lys579Thr)
n.943A>C
n.6995A>C
n.132+2990T>G
2g.215376528T>ACA350471209FN1c.5857A>T (p.Lys1953Ter)
c.5584A>T (p.Lys1862Ter)
c.5314A>T (p.Lys1772Ter)
c.5587A>T (p.Lys1863Ter)
c.1735A>T (p.Lys579Ter)
n.942A>T
n.6994A>T
n.132+2991T>A
2g.215376528T>CCA2094022FN1c.5857A>G (p.Lys1953Glu)
c.5584A>G (p.Lys1862Glu)
c.5314A>G (p.Lys1772Glu)
c.5587A>G (p.Lys1863Glu)
c.1735A>G (p.Lys579Glu)
n.942A>G
n.6994A>G
n.132+2991T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215376528T>GCA350471211FN1c.5857A>C (p.Lys1953Gln)
c.5584A>C (p.Lys1862Gln)
c.5314A>C (p.Lys1772Gln)
c.5587A>C (p.Lys1863Gln)
c.1735A>C (p.Lys579Gln)
n.942A>C
n.6994A>C
n.132+2991T>G
2g.215376528T=CA1327346854FN1c.5857A= (p.Lys1953=)
c.5584A= (p.Lys1862=)
c.5314A= (p.Lys1772=)
c.5587A= (p.Lys1863=)
c.1735A= (p.Lys579=)
n.942A=
n.6994A=
n.132+2991T=
2g.215376529G>ACA431154957FN1c.5856C>T (p.Ile1952=)
c.5583C>T (p.Ile1861=)
c.5313C>T (p.Ile1771=)
c.5586C>T (p.Ile1862=)
c.1734C>T (p.Ile578=)
n.941C>T
n.6993C>T
n.132+2992G>A
 gnomAD v4
2g.215376529G>CCA350471213FN1c.5856C>G (p.Ile1952Met)
c.5583C>G (p.Ile1861Met)
c.5313C>G (p.Ile1771Met)
c.5586C>G (p.Ile1862Met)
c.1734C>G (p.Ile578Met)
n.941C>G
n.6993C>G
n.132+2992G>C
 gnomAD v4
2g.215376529G>TCA431154956FN1c.5856C>A (p.Ile1952=)
c.5583C>A (p.Ile1861=)
c.5313C>A (p.Ile1771=)
c.5586C>A (p.Ile1862=)
c.1734C>A (p.Ile578=)
n.941C>A
n.6993C>A
n.132+2992G>T
2g.215376530A=CA1327346855FN1c.5855T= (p.Ile1952=)
c.5582T= (p.Ile1861=)
c.5312T= (p.Ile1771=)
c.5585T= (p.Ile1862=)
c.1733T= (p.Ile578=)
n.940T=
n.6992T=
n.132+2993A=
2g.215376530A>CCA350471215FN1c.5855T>G (p.Ile1952Ser)
c.5582T>G (p.Ile1861Ser)
c.5312T>G (p.Ile1771Ser)
c.5585T>G (p.Ile1862Ser)
c.1733T>G (p.Ile578Ser)
n.940T>G
n.6992T>G
n.132+2993A>C
 gnomAD v4
2g.215376530A>GCA64849958FN1c.5855T>C (p.Ile1952Thr)
c.5582T>C (p.Ile1861Thr)
c.5312T>C (p.Ile1771Thr)
c.5585T>C (p.Ile1862Thr)
c.1733T>C (p.Ile578Thr)
n.940T>C
n.6992T>C
n.132+2993A>G
 dbSNP gnomAD v3 gnomAD v4
2g.215376530A>TCA350471216FN1c.5855T>A (p.Ile1952Asn)
c.5582T>A (p.Ile1861Asn)
c.5312T>A (p.Ile1771Asn)
c.5585T>A (p.Ile1862Asn)
c.1733T>A (p.Ile578Asn)
n.940T>A
n.6992T>A
n.132+2993A>T
 COSMIC COSMIC
2g.215376531T>ACA350471218FN1c.5854A>T (p.Ile1952Phe)
c.5581A>T (p.Ile1861Phe)
c.5311A>T (p.Ile1771Phe)
c.5584A>T (p.Ile1862Phe)
c.1732A>T (p.Ile578Phe)
n.939A>T
n.6991A>T
n.132+2994T>A
2g.215376531T>CCA350471222FN1c.5854A>G (p.Ile1952Val)
c.5581A>G (p.Ile1861Val)
c.5311A>G (p.Ile1771Val)
c.5584A>G (p.Ile1862Val)
c.1732A>G (p.Ile578Val)
n.939A>G
n.6991A>G
n.132+2994T>C
 dbSNP gnomAD v4
2g.215376531T>GCA350471224FN1c.5854A>C (p.Ile1952Leu)
c.5581A>C (p.Ile1861Leu)
c.5311A>C (p.Ile1771Leu)
c.5584A>C (p.Ile1862Leu)
c.1732A>C (p.Ile578Leu)
n.939A>C
n.6991A>C
n.132+2994T>G
 dbSNP
2g.215376531T=CA1327346856FN1c.5854A= (p.Ile1952=)
c.5581A= (p.Ile1861=)
c.5311A= (p.Ile1771=)
c.5584A= (p.Ile1862=)
c.1732A= (p.Ile578=)
n.939A=
n.6991A=
n.132+2994T=
2g.215376532G>ACA431154958FN1c.5853C>T (p.Thr1951=)
c.5580C>T (p.Thr1860=)
c.5310C>T (p.Thr1770=)
c.5583C>T (p.Thr1861=)
c.1731C>T (p.Thr577=)
n.938C>T
n.6990C>T
n.132+2995G>A
2g.215376532G>CCA431154960FN1c.5853C>G (p.Thr1951=)
c.5580C>G (p.Thr1860=)
c.5310C>G (p.Thr1770=)
c.5583C>G (p.Thr1861=)
c.1731C>G (p.Thr577=)
n.938C>G
n.6990C>G
n.132+2995G>C
2g.215376532G>TCA431154959FN1c.5853C>A (p.Thr1951=)
c.5580C>A (p.Thr1860=)
c.5310C>A (p.Thr1770=)
c.5583C>A (p.Thr1861=)
c.1731C>A (p.Thr577=)
n.938C>A
n.6990C>A
n.132+2995G>T
2g.215376533G>ACA350471229FN1c.5852C>T (p.Thr1951Ile)
c.5579C>T (p.Thr1860Ile)
c.5309C>T (p.Thr1770Ile)
c.5582C>T (p.Thr1861Ile)
c.1730C>T (p.Thr577Ile)
n.937C>T
n.6989C>T
n.132+2996G>A
 gnomAD v4
2g.215376533G>CCA350471226FN1c.5852C>G (p.Thr1951Ser)
c.5579C>G (p.Thr1860Ser)
c.5309C>G (p.Thr1770Ser)
c.5582C>G (p.Thr1861Ser)
c.1730C>G (p.Thr577Ser)
n.937C>G
n.6989C>G
n.132+2996G>C
 gnomAD v4
2g.215376533G>TCA350471227FN1c.5852C>A (p.Thr1951Asn)
c.5579C>A (p.Thr1860Asn)
c.5309C>A (p.Thr1770Asn)
c.5582C>A (p.Thr1861Asn)
c.1730C>A (p.Thr577Asn)
n.937C>A
n.6989C>A
n.132+2996G>T
2g.215376534T>ACA350471231FN1c.5851A>T (p.Thr1951Ser)
c.5578A>T (p.Thr1860Ser)
c.5308A>T (p.Thr1770Ser)
c.5581A>T (p.Thr1861Ser)
c.1729A>T (p.Thr577Ser)
n.936A>T
n.6988A>T
n.132+2997T>A
2g.215376534T>CCA350471232FN1c.5851A>G (p.Thr1951Ala)
c.5578A>G (p.Thr1860Ala)
c.5308A>G (p.Thr1770Ala)
c.5581A>G (p.Thr1861Ala)
c.1729A>G (p.Thr577Ala)
n.936A>G
n.6988A>G
n.132+2997T>C
 gnomAD v4
2g.215376534T>GCA350471235FN1c.5851A>C (p.Thr1951Pro)
c.5578A>C (p.Thr1860Pro)
c.5308A>C (p.Thr1770Pro)
c.5581A>C (p.Thr1861Pro)
c.1729A>C (p.Thr577Pro)
n.936A>C
n.6988A>C
n.132+2997T>G
2g.215376535T>ACA350471237FN1c.5850A>T (p.Arg1950Ser)
c.5577A>T (p.Arg1859Ser)
c.5307A>T (p.Arg1769Ser)
c.5580A>T (p.Arg1860Ser)
c.1728A>T (p.Arg576Ser)
n.935A>T
n.6987A>T
n.132+2998T>A
2g.215376535T>CCA431154961FN1c.5850A>G (p.Arg1950=)
c.5577A>G (p.Arg1859=)
c.5307A>G (p.Arg1769=)
c.5580A>G (p.Arg1860=)
c.1728A>G (p.Arg576=)
n.935A>G
n.6987A>G
n.132+2998T>C
2g.215376535T>GCA350471238FN1c.5850A>C (p.Arg1950Ser)
c.5577A>C (p.Arg1859Ser)
c.5307A>C (p.Arg1769Ser)
c.5580A>C (p.Arg1860Ser)
c.1728A>C (p.Arg576Ser)
n.935A>C
n.6987A>C
n.132+2998T>G
2g.215376536C>ACA350471241FN1c.5849G>T (p.Arg1950Ile)
c.5576G>T (p.Arg1859Ile)
c.5306G>T (p.Arg1769Ile)
c.5579G>T (p.Arg1860Ile)
c.1727G>T (p.Arg576Ile)
n.934G>T
n.6986G>T
n.132+2999C>A
2g.215376536C>GCA350471242FN1c.5849G>C (p.Arg1950Thr)
c.5576G>C (p.Arg1859Thr)
c.5306G>C (p.Arg1769Thr)
c.5579G>C (p.Arg1860Thr)
c.1727G>C (p.Arg576Thr)
n.934G>C
n.6986G>C
n.132+2999C>G
 gnomAD v4
2g.215376536C>TCA350471249FN1c.5849G>A (p.Arg1950Lys)
c.5576G>A (p.Arg1859Lys)
c.5306G>A (p.Arg1769Lys)
c.5579G>A (p.Arg1860Lys)
c.1727G>A (p.Arg576Lys)
n.934G>A
n.6986G>A
n.132+2999C>T
 gnomAD v4
2g.215376537T>ACA350471250FN1c.5848A>T (p.Arg1950Ter)
c.5575A>T (p.Arg1859Ter)
c.5305A>T (p.Arg1769Ter)
c.5578A>T (p.Arg1860Ter)
c.1726A>T (p.Arg576Ter)
n.933A>T
n.6985A>T
n.132+3000T>A
2g.215376537T>CCA350471251FN1c.5848A>G (p.Arg1950Gly)
c.5575A>G (p.Arg1859Gly)
c.5305A>G (p.Arg1769Gly)
c.5578A>G (p.Arg1860Gly)
c.1726A>G (p.Arg576Gly)
n.933A>G
n.6985A>G
n.132+3000T>C
2g.215376537T>GCA431154962FN1c.5848A>C (p.Arg1950=)
c.5575A>C (p.Arg1859=)
c.5305A>C (p.Arg1769=)
c.5578A>C (p.Arg1860=)
c.1726A>C (p.Arg576=)
n.933A>C
n.6985A>C
n.132+3000T>G
2g.215376538C>ACA350471253FN1c.5847G>T (p.Gln1949His)
c.5574G>T (p.Gln1858His)
c.5304G>T (p.Gln1768His)
c.5577G>T (p.Gln1859His)
c.1725G>T (p.Gln575His)
n.932G>T
n.6984G>T
n.132+3001C>A
2g.215376538C=CA1327346857FN1c.5847G= (p.Gln1949=)
c.5574G= (p.Gln1858=)
c.5304G= (p.Gln1768=)
c.5577G= (p.Gln1859=)
c.1725G= (p.Gln575=)
n.932G=
n.6984G=
n.132+3001C=
2g.215376538C>GCA350471255FN1c.5847G>C (p.Gln1949His)
c.5574G>C (p.Gln1858His)
c.5304G>C (p.Gln1768His)
c.5577G>C (p.Gln1859His)
c.1725G>C (p.Gln575His)
n.932G>C
n.6984G>C
n.132+3001C>G
2g.215376538C>TCA431154963FN1c.5847G>A (p.Gln1949=)
c.5574G>A (p.Gln1858=)
c.5304G>A (p.Gln1768=)
c.5577G>A (p.Gln1859=)
c.1725G>A (p.Gln575=)
n.932G>A
n.6984G>A
n.132+3001C>T
 dbSNP gnomAD v3 gnomAD v4
2g.215376539T>ACA350471257FN1c.5846A>T (p.Gln1949Leu)
c.5573A>T (p.Gln1858Leu)
c.5303A>T (p.Gln1768Leu)
c.5576A>T (p.Gln1859Leu)
c.1724A>T (p.Gln575Leu)
n.931A>T
n.6983A>T
n.132+3002T>A
2g.215376539T>CCA350471258FN1c.5846A>G (p.Gln1949Arg)
c.5573A>G (p.Gln1858Arg)
c.5303A>G (p.Gln1768Arg)
c.5576A>G (p.Gln1859Arg)
c.1724A>G (p.Gln575Arg)
n.931A>G
n.6983A>G
n.132+3002T>C
2g.215376539T>GCA350471256FN1c.5846A>C (p.Gln1949Pro)
c.5573A>C (p.Gln1858Pro)
c.5303A>C (p.Gln1768Pro)
c.5576A>C (p.Gln1859Pro)
c.1724A>C (p.Gln575Pro)
n.931A>C
n.6983A>C
n.132+3002T>G
2g.215376540G>ACA350471259FN1c.5845C>T (p.Gln1949Ter)
c.5572C>T (p.Gln1858Ter)
c.5302C>T (p.Gln1768Ter)
c.5575C>T (p.Gln1859Ter)
c.1723C>T (p.Gln575Ter)
n.930C>T
n.6982C>T
n.132+3003G>A
2g.215376540G>CCA350471261FN1c.5845C>G (p.Gln1949Glu)
c.5572C>G (p.Gln1858Glu)
c.5302C>G (p.Gln1768Glu)
c.5575C>G (p.Gln1859Glu)
c.1723C>G (p.Gln575Glu)
n.930C>G
n.6982C>G
n.132+3003G>C
2g.215376540G>TCA350471263FN1c.5845C>A (p.Gln1949Lys)
c.5572C>A (p.Gln1858Lys)
c.5302C>A (p.Gln1768Lys)
c.5575C>A (p.Gln1859Lys)
c.1723C>A (p.Gln575Lys)
n.930C>A
n.6982C>A
n.132+3003G>T
2g.215376541G>ACA431154964FN1c.5844C>T (p.Ile1948=)
c.5571C>T (p.Ile1857=)
c.5301C>T (p.Ile1767=)
c.5574C>T (p.Ile1858=)
c.1722C>T (p.Ile574=)
n.929C>T
n.6981C>T
n.132+3004G>A
2g.215376541G>CCA350471265FN1c.5844C>G (p.Ile1948Met)
c.5571C>G (p.Ile1857Met)
c.5301C>G (p.Ile1767Met)
c.5574C>G (p.Ile1858Met)
c.1722C>G (p.Ile574Met)
n.929C>G
n.6981C>G
n.132+3004G>C
2g.215376541G>TCA431154965FN1c.5844C>A (p.Ile1948=)
c.5571C>A (p.Ile1857=)
c.5301C>A (p.Ile1767=)
c.5574C>A (p.Ile1858=)
c.1722C>A (p.Ile574=)
n.929C>A
n.6981C>A
n.132+3004G>T
2g.215376542A>CCA350471267FN1c.5843T>G (p.Ile1948Ser)
c.5570T>G (p.Ile1857Ser)
c.5300T>G (p.Ile1767Ser)
c.5573T>G (p.Ile1858Ser)
c.1721T>G (p.Ile574Ser)
n.928T>G
n.6980T>G
n.132+3005A>C
2g.215376542A>GCA350471269FN1c.5843T>C (p.Ile1948Thr)
c.5570T>C (p.Ile1857Thr)
c.5300T>C (p.Ile1767Thr)
c.5573T>C (p.Ile1858Thr)
c.1721T>C (p.Ile574Thr)
n.928T>C
n.6980T>C
n.132+3005A>G
2g.215376542A>TCA350471276FN1c.5843T>A (p.Ile1948Asn)
c.5570T>A (p.Ile1857Asn)
c.5300T>A (p.Ile1767Asn)
c.5573T>A (p.Ile1858Asn)
c.1721T>A (p.Ile574Asn)
n.928T>A
n.6980T>A
n.132+3005A>T
2g.215376543T>ACA350471278FN1c.5842A>T (p.Ile1948Phe)
c.5569A>T (p.Ile1857Phe)
c.5299A>T (p.Ile1767Phe)
c.5572A>T (p.Ile1858Phe)
c.1720A>T (p.Ile574Phe)
n.927A>T
n.6979A>T
n.132+3006T>A
2g.215376543T>CCA64849968FN1c.5842A>G (p.Ile1948Val)
c.5569A>G (p.Ile1857Val)
c.5299A>G (p.Ile1767Val)
c.5572A>G (p.Ile1858Val)
c.1720A>G (p.Ile574Val)
n.927A>G
n.6979A>G
n.132+3006T>C
 ClinVar dbSNP gnomAD v4
2g.215376543T>GCA350471279FN1c.5842A>C (p.Ile1948Leu)
c.5569A>C (p.Ile1857Leu)
c.5299A>C (p.Ile1767Leu)
c.5572A>C (p.Ile1858Leu)
c.1720A>C (p.Ile574Leu)
n.927A>C
n.6979A>C
n.132+3006T>G
2g.215376543T=CA1327346858FN1c.5842A= (p.Ile1948=)
c.5569A= (p.Ile1857=)
c.5299A= (p.Ile1767=)
c.5572A= (p.Ile1858=)
c.1720A= (p.Ile574=)
n.927A=
n.6979A=
n.132+3006T=
2g.215376544T>ACA431154966FN1c.5841A>T (p.Pro1947=)
c.5568A>T (p.Pro1856=)
c.5298A>T (p.Pro1766=)
c.5571A>T (p.Pro1857=)
c.1719A>T (p.Pro573=)
n.926A>T
n.6978A>T
n.132+3007T>A
2g.215376544T>CCA431154967FN1c.5841A>G (p.Pro1947=)
c.5568A>G (p.Pro1856=)
c.5298A>G (p.Pro1766=)
c.5571A>G (p.Pro1857=)
c.1719A>G (p.Pro573=)
n.926A>G
n.6978A>G
n.132+3007T>C
2g.215376544T>GCA2094023FN1c.5841A>C (p.Pro1947=)
c.5568A>C (p.Pro1856=)
c.5298A>C (p.Pro1766=)
c.5571A>C (p.Pro1857=)
c.1719A>C (p.Pro573=)
n.926A>C
n.6978A>C
n.132+3007T>G
 dbSNP ExAC gnomAD v2
2g.215376544T=CA1327346859FN1c.5841A= (p.Pro1947=)
c.5568A= (p.Pro1856=)
c.5298A= (p.Pro1766=)
c.5571A= (p.Pro1857=)
c.1719A= (p.Pro573=)
n.926A=
n.6978A=
n.132+3007T=
2g.215376545G>ACA350471281FN1c.5840C>T (p.Pro1947Leu)
c.5567C>T (p.Pro1856Leu)
c.5297C>T (p.Pro1766Leu)
c.5570C>T (p.Pro1857Leu)
c.1718C>T (p.Pro573Leu)
n.925C>T
n.6977C>T
n.132+3008G>A
2g.215376545G>CCA350471282FN1c.5840C>G (p.Pro1947Arg)
c.5567C>G (p.Pro1856Arg)
c.5297C>G (p.Pro1766Arg)
c.5570C>G (p.Pro1857Arg)
c.1718C>G (p.Pro573Arg)
n.925C>G
n.6977C>G
n.132+3008G>C
2g.215376545G>TCA350471283FN1c.5840C>A (p.Pro1947Gln)
c.5567C>A (p.Pro1856Gln)
c.5297C>A (p.Pro1766Gln)
c.5570C>A (p.Pro1857Gln)
c.1718C>A (p.Pro573Gln)
n.925C>A
n.6977C>A
n.132+3008G>T
2g.215376546dupCA539838035FN1c.5840dup (p.Ile1948AsnfsTer22)
c.5567dup (p.Ile1857AsnfsTer22)
c.5297dup (p.Ile1767AsnfsTer22)
c.5570dup (p.Ile1858AsnfsTer22)
c.1718dup (p.Ile574AsnfsTer22)
n.925dup
n.6977dup
n.132+3009dup
 dbSNP gnomAD v2 gnomAD v4
2g.215376546G>ACA350471287FN1c.5839C>T (p.Pro1947Ser)
c.5566C>T (p.Pro1856Ser)
c.5296C>T (p.Pro1766Ser)
c.5569C>T (p.Pro1857Ser)
c.1717C>T (p.Pro573Ser)
n.924C>T
n.6976C>T
n.132+3009G>A
2g.215376546G>CCA350471284FN1c.5839C>G (p.Pro1947Ala)
c.5566C>G (p.Pro1856Ala)
c.5296C>G (p.Pro1766Ala)
c.5569C>G (p.Pro1857Ala)
c.1717C>G (p.Pro573Ala)
n.924C>G
n.6976C>G
n.132+3009G>C
2g.215376546G>TCA350471285FN1c.5839C>A (p.Pro1947Thr)
c.5566C>A (p.Pro1856Thr)
c.5296C>A (p.Pro1766Thr)
c.5569C>A (p.Pro1857Thr)
c.1717C>A (p.Pro573Thr)
n.924C>A
n.6976C>A
n.132+3009G>T
2g.215376547A>CCA431154970FN1c.5838T>G (p.Thr1946=)
c.5565T>G (p.Thr1855=)
c.5295T>G (p.Thr1765=)
c.5568T>G (p.Thr1856=)
c.1716T>G (p.Thr572=)
n.923T>G
n.6975T>G
n.132+3010A>C
2g.215376547A>GCA431154969FN1c.5838T>C (p.Thr1946=)
c.5565T>C (p.Thr1855=)
c.5295T>C (p.Thr1765=)
c.5568T>C (p.Thr1856=)
c.1716T>C (p.Thr572=)
n.923T>C
n.6975T>C
n.132+3010A>G
 gnomAD v4
2g.215376547A>TCA431154968FN1c.5838T>A (p.Thr1946=)
c.5565T>A (p.Thr1855=)
c.5295T>A (p.Thr1765=)
c.5568T>A (p.Thr1856=)
c.1716T>A (p.Thr572=)
n.923T>A
n.6975T>A
n.132+3010A>T
2g.215376548G>ACA2094024FN1c.5837C>T (p.Thr1946Ile)
c.5564C>T (p.Thr1855Ile)
c.5294C>T (p.Thr1765Ile)
c.5567C>T (p.Thr1856Ile)
c.1715C>T (p.Thr572Ile)
n.922C>T
n.6974C>T
n.132+3011G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215376548G>CCA350471290FN1c.5837C>G (p.Thr1946Ser)
c.5564C>G (p.Thr1855Ser)
c.5294C>G (p.Thr1765Ser)
c.5567C>G (p.Thr1856Ser)
c.1715C>G (p.Thr572Ser)
n.922C>G
n.6974C>G
n.132+3011G>C
2g.215376548G=CA1327346860FN1c.5837C= (p.Thr1946=)
c.5564C= (p.Thr1855=)
c.5294C= (p.Thr1765=)
c.5567C= (p.Thr1856=)
c.1715C= (p.Thr572=)
n.922C=
n.6974C=
n.132+3011G=
2g.215376548G>TCA350471292FN1c.5837C>A (p.Thr1946Asn)
c.5564C>A (p.Thr1855Asn)
c.5294C>A (p.Thr1765Asn)
c.5567C>A (p.Thr1856Asn)
c.1715C>A (p.Thr572Asn)
n.922C>A
n.6974C>A
n.132+3011G>T
2g.215376549T>ACA350471293FN1c.5836A>T (p.Thr1946Ser)
c.5563A>T (p.Thr1855Ser)
c.5293A>T (p.Thr1765Ser)
c.5566A>T (p.Thr1856Ser)
c.1714A>T (p.Thr572Ser)
n.921A>T
n.6973A>T
n.132+3012T>A
2g.215376549T>CCA350471295FN1c.5836A>G (p.Thr1946Ala)
c.5563A>G (p.Thr1855Ala)
c.5293A>G (p.Thr1765Ala)
c.5566A>G (p.Thr1856Ala)
c.1714A>G (p.Thr572Ala)
n.921A>G
n.6973A>G
n.132+3012T>C
2g.215376549T>GCA350471296FN1c.5836A>C (p.Thr1946Pro)
c.5563A>C (p.Thr1855Pro)
c.5293A>C (p.Thr1765Pro)
c.5566A>C (p.Thr1856Pro)
c.1714A>C (p.Thr572Pro)
n.921A>C
n.6973A>C
n.132+3012T>G
2g.215376550C>ACA350471300FN1c.5835G>T (p.Gln1945His)
c.5562G>T (p.Gln1854His)
c.5292G>T (p.Gln1764His)
c.5565G>T (p.Gln1855His)
c.1713G>T (p.Gln571His)
n.920G>T
n.6972G>T
n.132+3013C>A
2g.215376550C>GCA350471298FN1c.5835G>C (p.Gln1945His)
c.5562G>C (p.Gln1854His)
c.5292G>C (p.Gln1764His)
c.5565G>C (p.Gln1855His)
c.1713G>C (p.Gln571His)
n.920G>C
n.6972G>C
n.132+3013C>G
2g.215376550C>TCA431154971FN1c.5835G>A (p.Gln1945=)
c.5562G>A (p.Gln1854=)
c.5292G>A (p.Gln1764=)
c.5565G>A (p.Gln1855=)
c.1713G>A (p.Gln571=)
n.920G>A
n.6972G>A
n.132+3013C>T
2g.215376551T>ACA350471302FN1c.5834A>T (p.Gln1945Leu)
c.5561A>T (p.Gln1854Leu)
c.5291A>T (p.Gln1764Leu)
c.5564A>T (p.Gln1855Leu)
c.1712A>T (p.Gln571Leu)
n.919A>T
n.6971A>T
n.132+3014T>A
2g.215376551T>CCA350471304FN1c.5834A>G (p.Gln1945Arg)
c.5561A>G (p.Gln1854Arg)
c.5291A>G (p.Gln1764Arg)
c.5564A>G (p.Gln1855Arg)
c.1712A>G (p.Gln571Arg)
n.919A>G
n.6971A>G
n.132+3014T>C
 gnomAD v4
2g.215376551T>GCA350471306FN1c.5834A>C (p.Gln1945Pro)
c.5561A>C (p.Gln1854Pro)
c.5291A>C (p.Gln1764Pro)
c.5564A>C (p.Gln1855Pro)
c.1712A>C (p.Gln571Pro)
n.919A>C
n.6971A>C
n.132+3014T>G
2g.215376552G>ACA350471308FN1c.5833C>T (p.Gln1945Ter)
c.5560C>T (p.Gln1854Ter)
c.5290C>T (p.Gln1764Ter)
c.5563C>T (p.Gln1855Ter)
c.1711C>T (p.Gln571Ter)
n.918C>T
n.6970C>T
n.132+3015G>A
2g.215376552G>CCA350471310FN1c.5833C>G (p.Gln1945Glu)
c.5560C>G (p.Gln1854Glu)
c.5290C>G (p.Gln1764Glu)
c.5563C>G (p.Gln1855Glu)
c.1711C>G (p.Gln571Glu)
n.918C>G
n.6970C>G
n.132+3015G>C
2g.215376552G>TCA350471311FN1c.5833C>A (p.Gln1945Lys)
c.5560C>A (p.Gln1854Lys)
c.5290C>A (p.Gln1764Lys)
c.5563C>A (p.Gln1855Lys)
c.1711C>A (p.Gln571Lys)
n.918C>A
n.6970C>A
n.132+3015G>T
2g.215376553G>ACA431154972FN1c.5832C>T (p.Gly1944=)
c.5559C>T (p.Gly1853=)
c.5289C>T (p.Gly1763=)
c.5562C>T (p.Gly1854=)
c.1710C>T (p.Gly570=)
n.917C>T
n.6969C>T
n.132+3016G>A
 gnomAD v4
2g.215376553G>CCA431154974FN1c.5832C>G (p.Gly1944=)
c.5559C>G (p.Gly1853=)
c.5289C>G (p.Gly1763=)
c.5562C>G (p.Gly1854=)
c.1710C>G (p.Gly570=)
n.917C>G
n.6969C>G
n.132+3016G>C
2g.215376553G>TCA431154973FN1c.5832C>A (p.Gly1944=)
c.5559C>A (p.Gly1853=)
c.5289C>A (p.Gly1763=)
c.5562C>A (p.Gly1854=)
c.1710C>A (p.Gly570=)
n.917C>A
n.6969C>A
n.132+3016G>T
2g.215376554C>ACA350471313FN1c.5831G>T (p.Gly1944Val)
c.5558G>T (p.Gly1853Val)
c.5288G>T (p.Gly1763Val)
c.5561G>T (p.Gly1854Val)
c.1709G>T (p.Gly570Val)
n.916G>T
n.6968G>T
n.132+3017C>A
2g.215376554C>GCA350471316FN1c.5831G>C (p.Gly1944Ala)
c.5558G>C (p.Gly1853Ala)
c.5288G>C (p.Gly1763Ala)
c.5561G>C (p.Gly1854Ala)
c.1709G>C (p.Gly570Ala)
n.916G>C
n.6968G>C
n.132+3017C>G
2g.215376554C>TCA350471314FN1c.5831G>A (p.Gly1944Asp)
c.5558G>A (p.Gly1853Asp)
c.5288G>A (p.Gly1763Asp)
c.5561G>A (p.Gly1854Asp)
c.1709G>A (p.Gly570Asp)
n.916G>A
n.6968G>A
n.132+3017C>T
2g.215376555C>ACA350471317FN1c.5830G>T (p.Gly1944Cys)
c.5557G>T (p.Gly1853Cys)
c.5287G>T (p.Gly1763Cys)
c.5560G>T (p.Gly1854Cys)
c.1708G>T (p.Gly570Cys)
n.915G>T
n.6967G>T
n.132+3018C>A
2g.215376555C>GCA350471318FN1c.5830G>C (p.Gly1944Arg)
c.5557G>C (p.Gly1853Arg)
c.5287G>C (p.Gly1763Arg)
c.5560G>C (p.Gly1854Arg)
c.1708G>C (p.Gly570Arg)
n.915G>C
n.6967G>C
n.132+3018C>G
2g.215376555C>TCA350471320FN1c.5830G>A (p.Gly1944Ser)
c.5557G>A (p.Gly1853Ser)
c.5287G>A (p.Gly1763Ser)
c.5560G>A (p.Gly1854Ser)
c.1708G>A (p.Gly570Ser)
n.915G>A
n.6967G>A
n.132+3018C>T
2g.215376556A=CA1327346861FN1c.5829T= (p.Asn1943=)
c.5556T= (p.Asn1852=)
c.5286T= (p.Asn1762=)
c.5559T= (p.Asn1853=)
c.1707T= (p.Asn569=)
n.914T=
n.6966T=
n.132+3019A=
2g.215376556A>CCA350471321FN1c.5829T>G (p.Asn1943Lys)
c.5556T>G (p.Asn1852Lys)
c.5286T>G (p.Asn1762Lys)
c.5559T>G (p.Asn1853Lys)
c.1707T>G (p.Asn569Lys)
n.914T>G
n.6966T>G
n.132+3019A>C
2g.215376556A>GCA431154975FN1c.5829T>C (p.Asn1943=)
c.5556T>C (p.Asn1852=)
c.5286T>C (p.Asn1762=)
c.5559T>C (p.Asn1853=)
c.1707T>C (p.Asn569=)
n.914T>C
n.6966T>C
n.132+3019A>G
 dbSNP gnomAD v3 gnomAD v4
2g.215376556A>TCA350471323FN1c.5829T>A (p.Asn1943Lys)
c.5556T>A (p.Asn1852Lys)
c.5286T>A (p.Asn1762Lys)
c.5559T>A (p.Asn1853Lys)
c.1707T>A (p.Asn569Lys)
n.914T>A
n.6966T>A
n.132+3019A>T
 gnomAD v4
2g.215376557T>ACA350471330FN1c.5828A>T (p.Asn1943Ile)
c.5555A>T (p.Asn1852Ile)
c.5285A>T (p.Asn1762Ile)
c.5558A>T (p.Asn1853Ile)
c.1706A>T (p.Asn569Ile)
n.913A>T
n.6965A>T
n.132+3020T>A
2g.215376557T>CCA2094025FN1c.5828A>G (p.Asn1943Ser)
c.5555A>G (p.Asn1852Ser)
c.5285A>G (p.Asn1762Ser)
c.5558A>G (p.Asn1853Ser)
c.1706A>G (p.Asn569Ser)
n.913A>G
n.6965A>G
n.132+3020T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215376557T>GCA350471327FN1c.5828A>C (p.Asn1943Thr)
c.5555A>C (p.Asn1852Thr)
c.5285A>C (p.Asn1762Thr)
c.5558A>C (p.Asn1853Thr)
c.1706A>C (p.Asn569Thr)
n.913A>C
n.6965A>C
n.132+3020T>G
2g.215376557T=CA1327346862FN1c.5828A= (p.Asn1943=)
c.5555A= (p.Asn1852=)
c.5285A= (p.Asn1762=)
c.5558A= (p.Asn1853=)
c.1706A= (p.Asn569=)
n.913A=
n.6965A=
n.132+3020T=
2g.215376558T>ACA350471332FN1c.5827A>T (p.Asn1943Tyr)
c.5554A>T (p.Asn1852Tyr)
c.5284A>T (p.Asn1762Tyr)
c.5557A>T (p.Asn1853Tyr)
c.1705A>T (p.Asn569Tyr)
n.912A>T
n.6964A>T
n.132+3021T>A
2g.215376558T>CCA350471334FN1c.5827A>G (p.Asn1943Asp)
c.5554A>G (p.Asn1852Asp)
c.5284A>G (p.Asn1762Asp)
c.5557A>G (p.Asn1853Asp)
c.1705A>G (p.Asn569Asp)
n.912A>G
n.6964A>G
n.132+3021T>C
2g.215376558T>GCA350471335FN1c.5827A>C (p.Asn1943His)
c.5554A>C (p.Asn1852His)
c.5284A>C (p.Asn1762His)
c.5557A>C (p.Asn1853His)
c.1705A>C (p.Asn569His)
n.912A>C
n.6964A>C
n.132+3021T>G
2g.215376559G>ACA431154976FN1c.5826C>T (p.Ala1942=)
c.5553C>T (p.Ala1851=)
c.5283C>T (p.Ala1761=)
c.5556C>T (p.Ala1852=)
c.1704C>T (p.Ala568=)
n.911C>T
n.6963C>T
n.132+3022G>A
2g.215376559G>CCA431154977FN1c.5826C>G (p.Ala1942=)
c.5553C>G (p.Ala1851=)
c.5283C>G (p.Ala1761=)
c.5556C>G (p.Ala1852=)
c.1704C>G (p.Ala568=)
n.911C>G
n.6963C>G
n.132+3022G>C
2g.215376559G>TCA431154978FN1c.5826C>A (p.Ala1942=)
c.5553C>A (p.Ala1851=)
c.5283C>A (p.Ala1761=)
c.5556C>A (p.Ala1852=)
c.1704C>A (p.Ala568=)
n.911C>A
n.6963C>A
n.132+3022G>T
2g.215376560G>ACA350471337FN1c.5825C>T (p.Ala1942Val)
c.5552C>T (p.Ala1851Val)
c.5282C>T (p.Ala1761Val)
c.5555C>T (p.Ala1852Val)
c.1703C>T (p.Ala568Val)
n.910C>T
n.6962C>T
n.132+3023G>A
 gnomAD v4
2g.215376560G>CCA350471339FN1c.5825C>G (p.Ala1942Gly)
c.5552C>G (p.Ala1851Gly)
c.5282C>G (p.Ala1761Gly)
c.5555C>G (p.Ala1852Gly)
c.1703C>G (p.Ala568Gly)
n.910C>G
n.6962C>G
n.132+3023G>C
2g.215376560G>TCA350471344FN1c.5825C>A (p.Ala1942Asp)
c.5552C>A (p.Ala1851Asp)
c.5282C>A (p.Ala1761Asp)
c.5555C>A (p.Ala1852Asp)
c.1703C>A (p.Ala568Asp)
n.910C>A
n.6962C>A
n.132+3023G>T
2g.215376561C>ACA350471346FN1c.5824G>T (p.Ala1942Ser)
c.5551G>T (p.Ala1851Ser)
c.5281G>T (p.Ala1761Ser)
c.5554G>T (p.Ala1852Ser)
c.1702G>T (p.Ala568Ser)
n.909G>T
n.6961G>T
n.132+3024C>A
2g.215376561C>GCA350471350FN1c.5824G>C (p.Ala1942Pro)
c.5551G>C (p.Ala1851Pro)
c.5281G>C (p.Ala1761Pro)
c.5554G>C (p.Ala1852Pro)
c.1702G>C (p.Ala568Pro)
n.909G>C
n.6961G>C
n.132+3024C>G
2g.215376561C>TCA350471348FN1c.5824G>A (p.Ala1942Thr)
c.5551G>A (p.Ala1851Thr)
c.5281G>A (p.Ala1761Thr)
c.5554G>A (p.Ala1852Thr)
c.1702G>A (p.Ala568Thr)
n.909G>A
n.6961G>A
n.132+3024C>T
2g.215376561_215376562insGCA645527918FN1c.5823_5824insC (p.Ala1942ArgfsTer28)
c.5550_5551insC (p.Ala1851ArgfsTer28)
c.5280_5281insC (p.Ala1761ArgfsTer28)
c.5553_5554insC (p.Ala1852ArgfsTer28)
c.1701_1702insC (p.Ala568ArgfsTer28)
n.908_909insC
n.6960_6961insC
n.132+3024_132+3025insG
 COSMIC COSMIC
2g.215376562T>ACA431154980FN1c.5823A>T (p.Pro1941=)
c.5550A>T (p.Pro1850=)
c.5280A>T (p.Pro1760=)
c.5553A>T (p.Pro1851=)
c.1701A>T (p.Pro567=)
n.908A>T
n.6960A>T
n.132+3025T>A
2g.215376562T>CCA431154979FN1c.5823A>G (p.Pro1941=)
c.5550A>G (p.Pro1850=)
c.5280A>G (p.Pro1760=)
c.5553A>G (p.Pro1851=)
c.1701A>G (p.Pro567=)
n.908A>G
n.6960A>G
n.132+3025T>C
2g.215376562T>GCA2094026FN1c.5823A>C (p.Pro1941=)
c.5550A>C (p.Pro1850=)
c.5280A>C (p.Pro1760=)
c.5553A>C (p.Pro1851=)
c.1701A>C (p.Pro567=)
n.908A>C
n.6960A>C
n.132+3025T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215376562T=CA1327346863FN1c.5823A= (p.Pro1941=)
c.5550A= (p.Pro1850=)
c.5280A= (p.Pro1760=)
c.5553A= (p.Pro1851=)
c.1701A= (p.Pro567=)
n.908A=
n.6960A=
n.132+3025T=
2g.215376563G>ACA350471353FN1c.5822C>T (p.Pro1941Leu)
c.5549C>T (p.Pro1850Leu)
c.5279C>T (p.Pro1760Leu)
c.5552C>T (p.Pro1851Leu)
c.1700C>T (p.Pro567Leu)
n.907C>T
n.6959C>T
n.132+3026G>A
2g.215376563G>CCA350471355FN1c.5822C>G (p.Pro1941Arg)
c.5549C>G (p.Pro1850Arg)
c.5279C>G (p.Pro1760Arg)
c.5552C>G (p.Pro1851Arg)
c.1700C>G (p.Pro567Arg)
n.907C>G
n.6959C>G
n.132+3026G>C
2g.215376563G=CA1327346864FN1c.5822C= (p.Pro1941=)
c.5549C= (p.Pro1850=)
c.5279C= (p.Pro1760=)
c.5552C= (p.Pro1851=)
c.1700C= (p.Pro567=)
n.907C=
n.6959C=
n.132+3026G=
2g.215376563G>TCA350471357FN1c.5822C>A (p.Pro1941Gln)
c.5549C>A (p.Pro1850Gln)
c.5279C>A (p.Pro1760Gln)
c.5552C>A (p.Pro1851Gln)
c.1700C>A (p.Pro567Gln)
n.907C>A
n.6959C>A
n.132+3026G>T
2g.215376564G>ACA350471360FN1c.5821C>T (p.Pro1941Ser)
c.5548C>T (p.Pro1850Ser)
c.5278C>T (p.Pro1760Ser)
c.5551C>T (p.Pro1851Ser)
c.1699C>T (p.Pro567Ser)
n.906C>T
n.6958C>T
n.132+3027G>A
 ClinVar
2g.215376564G>CCA350471361FN1c.5821C>G (p.Pro1941Ala)
c.5548C>G (p.Pro1850Ala)
c.5278C>G (p.Pro1760Ala)
c.5551C>G (p.Pro1851Ala)
c.1699C>G (p.Pro567Ala)
n.906C>G
n.6958C>G
n.132+3027G>C
2g.215376564G>TCA350471363FN1c.5821C>A (p.Pro1941Thr)
c.5548C>A (p.Pro1850Thr)
c.5278C>A (p.Pro1760Thr)
c.5551C>A (p.Pro1851Thr)
c.1699C>A (p.Pro567Thr)
n.906C>A
n.6958C>A
n.132+3027G>T
2g.215376565_215376579dupCA1327346865FN1c.5807_5821dup (p.Val1940_Pro1941insGlnValAspAlaVal)
c.5534_5548dup (p.Val1849_Pro1850insGlnValAspAlaVal)
c.5264_5278dup (p.Val1759_Pro1760insGlnValAspAlaVal)
c.5537_5551dup (p.Val1850_Pro1851insGlnValAspAlaVal)
c.1685_1699dup (p.Val566_Pro567insGlnValAspAlaVal)
n.892_906dup
n.6944_6958dup
n.132+3028_132+3042dup
 dbSNP
2g.215376565A=CA1327346866FN1c.5820T= (p.Val1940=)
c.5547T= (p.Val1849=)
c.5277T= (p.Val1759=)
c.5550T= (p.Val1850=)
c.1698T= (p.Val566=)
n.905T=
n.6957T=
n.132+3028A=
2g.215376565A>CCA431154981FN1c.5820T>G (p.Val1940=)
c.5547T>G (p.Val1849=)
c.5277T>G (p.Val1759=)
c.5550T>G (p.Val1850=)
c.1698T>G (p.Val566=)
n.905T>G
n.6957T>G
n.132+3028A>C
2g.215376565A>GCA2094027FN1c.5820T>C (p.Val1940=)
c.5547T>C (p.Val1849=)
c.5277T>C (p.Val1759=)
c.5550T>C (p.Val1850=)
c.1698T>C (p.Val566=)
n.905T>C
n.6957T>C
n.132+3028A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.215376565A>TCA431154982FN1c.5820T>A (p.Val1940=)
c.5547T>A (p.Val1849=)
c.5277T>A (p.Val1759=)
c.5550T>A (p.Val1850=)
c.1698T>A (p.Val566=)
n.905T>A
n.6957T>A
n.132+3028A>T
2g.215376566A>CCA350471367FN1c.5819T>G (p.Val1940Gly)
c.5546T>G (p.Val1849Gly)
c.5276T>G (p.Val1759Gly)
c.5549T>G (p.Val1850Gly)
c.1697T>G (p.Val566Gly)
n.904T>G
n.6956T>G
n.132+3029A>C
2g.215376566A>GCA350471368FN1c.5819T>C (p.Val1940Ala)
c.5546T>C (p.Val1849Ala)
c.5276T>C (p.Val1759Ala)
c.5549T>C (p.Val1850Ala)
c.1697T>C (p.Val566Ala)
n.904T>C
n.6956T>C
n.132+3029A>G
2g.215376566A>TCA350471370FN1c.5819T>A (p.Val1940Asp)
c.5546T>A (p.Val1849Asp)
c.5276T>A (p.Val1759Asp)
c.5549T>A (p.Val1850Asp)
c.1697T>A (p.Val566Asp)
n.904T>A
n.6956T>A
n.132+3029A>T
2g.215376567C>ACA2094028FN1c.5818G>T (p.Val1940Phe)
c.5545G>T (p.Val1849Phe)
c.5275G>T (p.Val1759Phe)
c.5548G>T (p.Val1850Phe)
c.1696G>T (p.Val566Phe)
n.903G>T
n.6955G>T
n.132+3030C>A
 dbSNP ExAC gnomAD v2
2g.215376567C=CA1327346867FN1c.5818G= (p.Val1940=)
c.5545G= (p.Val1849=)
c.5275G= (p.Val1759=)
c.5548G= (p.Val1850=)
c.1696G= (p.Val566=)
n.903G=
n.6955G=
n.132+3030C=
2g.215376567C>GCA350471372FN1c.5818G>C (p.Val1940Leu)
c.5545G>C (p.Val1849Leu)
c.5275G>C (p.Val1759Leu)
c.5548G>C (p.Val1850Leu)
c.1696G>C (p.Val566Leu)
n.903G>C
n.6955G>C
n.132+3030C>G
 gnomAD v4
2g.215376567C>TCA2094029FN1c.5818G>A (p.Val1940Ile)
c.5545G>A (p.Val1849Ile)
c.5275G>A (p.Val1759Ile)
c.5548G>A (p.Val1850Ile)
c.1696G>A (p.Val566Ile)
n.903G>A
n.6955G>A
n.132+3030C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215376568G>ACA64850040FN1c.5817C>T (p.Ala1939=)
c.5544C>T (p.Ala1848=)
c.5274C>T (p.Ala1758=)
c.5547C>T (p.Ala1849=)
c.1695C>T (p.Ala565=)
n.902C>T
n.6954C>T
n.132+3031G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.215376568G>CCA431154983FN1c.5817C>G (p.Ala1939=)
c.5544C>G (p.Ala1848=)
c.5274C>G (p.Ala1758=)
c.5547C>G (p.Ala1849=)
c.1695C>G (p.Ala565=)
n.902C>G
n.6954C>G
n.132+3031G>C
2g.215376568G=CA1327346868FN1c.5817C= (p.Ala1939=)
c.5544C= (p.Ala1848=)
c.5274C= (p.Ala1758=)
c.5547C= (p.Ala1849=)
c.1695C= (p.Ala565=)
n.902C=
n.6954C=
n.132+3031G=
2g.215376568G>TCA431154984FN1c.5817C>A (p.Ala1939=)
c.5544C>A (p.Ala1848=)
c.5274C>A (p.Ala1758=)
c.5547C>A (p.Ala1849=)
c.1695C>A (p.Ala565=)
n.902C>A
n.6954C>A
n.132+3031G>T
2g.215376569G>ACA350471380FN1c.5816C>T (p.Ala1939Val)
c.5543C>T (p.Ala1848Val)
c.5273C>T (p.Ala1758Val)
c.5546C>T (p.Ala1849Val)
c.1694C>T (p.Ala565Val)
n.901C>T
n.6953C>T
n.132+3032G>A
2g.215376569G>CCA350471382FN1c.5816C>G (p.Ala1939Gly)
c.5543C>G (p.Ala1848Gly)
c.5273C>G (p.Ala1758Gly)
c.5546C>G (p.Ala1849Gly)
c.1694C>G (p.Ala565Gly)
n.901C>G
n.6953C>G
n.132+3032G>C
2g.215376569G>TCA350471384FN1c.5816C>A (p.Ala1939Asp)
c.5543C>A (p.Ala1848Asp)
c.5273C>A (p.Ala1758Asp)
c.5546C>A (p.Ala1849Asp)
c.1694C>A (p.Ala565Asp)
n.901C>A
n.6953C>A
n.132+3032G>T
2g.215376570C>ACA350471386FN1c.5815G>T (p.Ala1939Ser)
c.5542G>T (p.Ala1848Ser)
c.5272G>T (p.Ala1758Ser)
c.5545G>T (p.Ala1849Ser)
c.1693G>T (p.Ala565Ser)
n.900G>T
n.6952G>T
n.132+3033C>A
2g.215376570C=CA1327346869FN1c.5815G= (p.Ala1939=)
c.5542G= (p.Ala1848=)
c.5272G= (p.Ala1758=)
c.5545G= (p.Ala1849=)
c.1693G= (p.Ala565=)
n.900G=
n.6952G=
n.132+3033C=
2g.215376570C>GCA350471387FN1c.5815G>C (p.Ala1939Pro)
c.5542G>C (p.Ala1848Pro)
c.5272G>C (p.Ala1758Pro)
c.5545G>C (p.Ala1849Pro)
c.1693G>C (p.Ala565Pro)
n.900G>C
n.6952G>C
n.132+3033C>G
2g.215376570C>TCA2094030FN1c.5815G>A (p.Ala1939Thr)
c.5542G>A (p.Ala1848Thr)
c.5272G>A (p.Ala1758Thr)
c.5545G>A (p.Ala1849Thr)
c.1693G>A (p.Ala565Thr)
n.900G>A
n.6952G>A
n.132+3033C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.215376571A=CA1327346870FN1c.5814T= (p.Asp1938=)
c.5541T= (p.Asp1847=)
c.5271T= (p.Asp1757=)
c.5544T= (p.Asp1848=)
c.1692T= (p.Asp564=)
n.899T=
n.6951T=
n.132+3034A=
2g.215376571A>CCA350471392FN1c.5814T>G (p.Asp1938Glu)
c.5541T>G (p.Asp1847Glu)
c.5271T>G (p.Asp1757Glu)
c.5544T>G (p.Asp1848Glu)
c.1692T>G (p.Asp564Glu)
n.899T>G
n.6951T>G
n.132+3034A>C
2g.215376571A>GCA64850043FN1c.5814T>C (p.Asp1938=)
c.5541T>C (p.Asp1847=)
c.5271T>C (p.Asp1757=)
c.5544T>C (p.Asp1848=)
c.1692T>C (p.Asp564=)
n.899T>C
n.6951T>C
n.132+3034A>G
 dbSNP gnomAD v4
2g.215376571A>TCA350471390FN1c.5814T>A (p.Asp1938Glu)
c.5541T>A (p.Asp1847Glu)
c.5271T>A (p.Asp1757Glu)
c.5544T>A (p.Asp1848Glu)
c.1692T>A (p.Asp564Glu)
n.899T>A
n.6951T>A
n.132+3034A>T
2g.215376572T>ACA350471393FN1c.5813A>T (p.Asp1938Val)
c.5540A>T (p.Asp1847Val)
c.5270A>T (p.Asp1757Val)
c.5543A>T (p.Asp1848Val)
c.1691A>T (p.Asp564Val)
n.898A>T
n.6950A>T
n.132+3035T>A
2g.215376572T>CCA350471397FN1c.5813A>G (p.Asp1938Gly)
c.5540A>G (p.Asp1847Gly)
c.5270A>G (p.Asp1757Gly)
c.5543A>G (p.Asp1848Gly)
c.1691A>G (p.Asp564Gly)
n.898A>G
n.6950A>G
n.132+3035T>C
2g.215376572T>GCA350471399FN1c.5813A>C (p.Asp1938Ala)
c.5540A>C (p.Asp1847Ala)
c.5270A>C (p.Asp1757Ala)
c.5543A>C (p.Asp1848Ala)
c.1691A>C (p.Asp564Ala)
n.898A>C
n.6950A>C
n.132+3035T>G
2g.215376573C>ACA350471402FN1c.5812G>T (p.Asp1938Tyr)
c.5539G>T (p.Asp1847Tyr)
c.5269G>T (p.Asp1757Tyr)
c.5542G>T (p.Asp1848Tyr)
c.1690G>T (p.Asp564Tyr)
n.897G>T
n.6949G>T
n.132+3036C>A
2g.215376573C=CA1327346871FN1c.5812G= (p.Asp1938=)
c.5539G= (p.Asp1847=)
c.5269G= (p.Asp1757=)
c.5542G= (p.Asp1848=)
c.1690G= (p.Asp564=)
n.897G=
n.6949G=
n.132+3036C=
2g.215376573C>GCA350471403FN1c.5812G>C (p.Asp1938His)
c.5539G>C (p.Asp1847His)
c.5269G>C (p.Asp1757His)
c.5542G>C (p.Asp1848His)
c.1690G>C (p.Asp564His)
n.897G>C
n.6949G>C
n.132+3036C>G
2g.215376573C>TCA350471406FN1c.5812G>A (p.Asp1938Asn)
c.5539G>A (p.Asp1847Asn)
c.5269G>A (p.Asp1757Asn)
c.5542G>A (p.Asp1848Asn)
c.1690G>A (p.Asp564Asn)
n.897G>A
n.6949G>A
n.132+3036C>T
 dbSNP gnomAD v2 gnomAD v4
2g.215376574A>CCA431154985FN1c.5811T>G (p.Val1937=)
c.5538T>G (p.Val1846=)
c.5268T>G (p.Val1756=)
c.5541T>G (p.Val1847=)
c.1689T>G (p.Val563=)
n.896T>G
n.6948T>G
n.132+3037A>C
 gnomAD v4
2g.215376574A>GCA431154986FN1c.5811T>C (p.Val1937=)
c.5538T>C (p.Val1846=)
c.5268T>C (p.Val1756=)
c.5541T>C (p.Val1847=)
c.1689T>C (p.Val563=)
n.896T>C
n.6948T>C
n.132+3037A>G
2g.215376574A>TCA431154987FN1c.5811T>A (p.Val1937=)
c.5538T>A (p.Val1846=)
c.5268T>A (p.Val1756=)
c.5541T>A (p.Val1847=)
c.1689T>A (p.Val563=)
n.896T>A
n.6948T>A
n.132+3037A>T
2g.215376575A=CA1327346872FN1c.5810T= (p.Val1937=)
c.5537T= (p.Val1846=)
c.5267T= (p.Val1756=)
c.5540T= (p.Val1847=)
c.1688T= (p.Val563=)
n.895T=
n.6947T=
n.132+3038A=
2g.215376575A>CCA350471414FN1c.5810T>G (p.Val1937Gly)
c.5537T>G (p.Val1846Gly)
c.5267T>G (p.Val1756Gly)
c.5540T>G (p.Val1847Gly)
c.1688T>G (p.Val563Gly)
n.895T>G
n.6947T>G
n.132+3038A>C
 dbSNP gnomAD v2 gnomAD v4
2g.215376575A>GCA350471411FN1c.5810T>C (p.Val1937Ala)
c.5537T>C (p.Val1846Ala)
c.5267T>C (p.Val1756Ala)
c.5540T>C (p.Val1847Ala)
c.1688T>C (p.Val563Ala)
n.895T>C
n.6947T>C
n.132+3038A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.215376575A>TCA350471413FN1c.5810T>A (p.Val1937Asp)
c.5537T>A (p.Val1846Asp)
c.5267T>A (p.Val1756Asp)
c.5540T>A (p.Val1847Asp)
c.1688T>A (p.Val563Asp)
n.895T>A
n.6947T>A
n.132+3038A>T
2g.215376576C>ACA350471416FN1c.5809G>T (p.Val1937Phe)
c.5536G>T (p.Val1846Phe)
c.5266G>T (p.Val1756Phe)
c.5539G>T (p.Val1847Phe)
c.1687G>T (p.Val563Phe)
n.894G>T
n.6946G>T
n.132+3039C>A
2g.215376576C>GCA350471418FN1c.5809G>C (p.Val1937Leu)
c.5536G>C (p.Val1846Leu)
c.5266G>C (p.Val1756Leu)
c.5539G>C (p.Val1847Leu)
c.1687G>C (p.Val563Leu)
n.894G>C
n.6946G>C
n.132+3039C>G
2g.215376576C>TCA350471422FN1c.5809G>A (p.Val1937Ile)
c.5536G>A (p.Val1846Ile)
c.5266G>A (p.Val1756Ile)
c.5539G>A (p.Val1847Ile)
c.1687G>A (p.Val563Ile)
n.894G>A
n.6946G>A
n.132+3039C>T
2g.215376581_215376605delCA2701531704FN1c.5785_5809del (p.Thr1929LeufsTer?)
c.5512_5536del (p.Thr1838LeufsTer?)
c.5242_5266del (p.Thr1748LeufsTer?)
c.5515_5539del (p.Thr1839LeufsTer?)
c.1663_1687del (p.Thr555LeufsTer?)
n.870_894del
n.6922_6946del
n.132+3044_132+3068del
 dbSNP
2g.215376577T>ACA350471424FN1c.5808A>T (p.Gln1936His)
c.5535A>T (p.Gln1845His)
c.5265A>T (p.Gln1755His)
c.5538A>T (p.Gln1846His)
c.1686A>T (p.Gln562His)
n.893A>T
n.6945A>T
n.132+3040T>A
2g.215376577T>CCA431154988FN1c.5808A>G (p.Gln1936=)
c.5535A>G (p.Gln1845=)
c.5265A>G (p.Gln1755=)
c.5538A>G (p.Gln1846=)
c.1686A>G (p.Gln562=)
n.893A>G
n.6945A>G
n.132+3040T>C
2g.215376577T>GCA350471425FN1c.5808A>C (p.Gln1936His)
c.5535A>C (p.Gln1845His)
c.5265A>C (p.Gln1755His)
c.5538A>C (p.Gln1846His)
c.1686A>C (p.Gln562His)
n.893A>C
n.6945A>C
n.132+3040T>G
2g.215376578T>ACA350471427FN1c.5807A>T (p.Gln1936Leu)
c.5534A>T (p.Gln1845Leu)
c.5264A>T (p.Gln1755Leu)
c.5537A>T (p.Gln1846Leu)
c.1685A>T (p.Gln562Leu)
n.892A>T
n.6944A>T
n.132+3041T>A
2g.215376578T>CCA350471429FN1c.5807A>G (p.Gln1936Arg)
c.5534A>G (p.Gln1845Arg)
c.5264A>G (p.Gln1755Arg)
c.5537A>G (p.Gln1846Arg)
c.1685A>G (p.Gln562Arg)
n.892A>G
n.6944A>G
n.132+3041T>C
2g.215376578T>GCA350471430FN1c.5807A>C (p.Gln1936Pro)
c.5534A>C (p.Gln1845Pro)
c.5264A>C (p.Gln1755Pro)
c.5537A>C (p.Gln1846Pro)
c.1685A>C (p.Gln562Pro)
n.892A>C
n.6944A>C
n.132+3041T>G
2g.215376579G>ACA350471432FN1c.5806C>T (p.Gln1936Ter)
c.5533C>T (p.Gln1845Ter)
c.5263C>T (p.Gln1755Ter)
c.5536C>T (p.Gln1846Ter)
c.1684C>T (p.Gln562Ter)
n.891C>T
n.6943C>T
n.132+3042G>A
2g.215376579G>CCA350471434FN1c.5806C>G (p.Gln1936Glu)
c.5533C>G (p.Gln1845Glu)
c.5263C>G (p.Gln1755Glu)
c.5536C>G (p.Gln1846Glu)
c.1684C>G (p.Gln562Glu)
n.891C>G
n.6943C>G
n.132+3042G>C
2g.215376579G>TCA350471436FN1c.5806C>A (p.Gln1936Lys)
c.5533C>A (p.Gln1845Lys)
c.5263C>A (p.Gln1755Lys)
c.5536C>A (p.Gln1846Lys)
c.1684C>A (p.Gln562Lys)
n.891C>A
n.6943C>A
n.132+3042G>T
2g.215376580G>ACA431154989FN1c.5805C>T (p.Phe1935=)
c.5532C>T (p.Phe1844=)
c.5262C>T (p.Phe1754=)
c.5535C>T (p.Phe1845=)
c.1683C>T (p.Phe561=)
n.890C>T
n.6942C>T
n.132+3043G>A
2g.215376580G>CCA350471437FN1c.5805C>G (p.Phe1935Leu)
c.5532C>G (p.Phe1844Leu)
c.5262C>G (p.Phe1754Leu)
c.5535C>G (p.Phe1845Leu)
c.1683C>G (p.Phe561Leu)
n.890C>G
n.6942C>G
n.132+3043G>C
2g.215376580G>TCA350471440FN1c.5805C>A (p.Phe1935Leu)
c.5532C>A (p.Phe1844Leu)
c.5262C>A (p.Phe1754Leu)
c.5535C>A (p.Phe1845Leu)
c.1683C>A (p.Phe561Leu)
n.890C>A
n.6942C>A
n.132+3043G>T
2g.215376581A>CCA350471442FN1c.5804T>G (p.Phe1935Cys)
c.5531T>G (p.Phe1844Cys)
c.5261T>G (p.Phe1754Cys)
c.5534T>G (p.Phe1845Cys)
c.1682T>G (p.Phe561Cys)
n.889T>G
n.6941T>G
n.132+3044A>C
2g.215376581A>GCA350471446FN1c.5804T>C (p.Phe1935Ser)
c.5531T>C (p.Phe1844Ser)
c.5261T>C (p.Phe1754Ser)
c.5534T>C (p.Phe1845Ser)
c.1682T>C (p.Phe561Ser)
n.889T>C
n.6941T>C
n.132+3044A>G
2g.215376581A>TCA350471443FN1c.5804T>A (p.Phe1935Tyr)
c.5531T>A (p.Phe1844Tyr)
c.5261T>A (p.Phe1754Tyr)
c.5534T>A (p.Phe1845Tyr)
c.1682T>A (p.Phe561Tyr)
n.889T>A
n.6941T>A
n.132+3044A>T
2g.215376582A>CCA350471449FN1c.5803T>G (p.Phe1935Val)
c.5530T>G (p.Phe1844Val)
c.5260T>G (p.Phe1754Val)
c.5533T>G (p.Phe1845Val)
c.1681T>G (p.Phe561Val)
n.888T>G
n.6940T>G
n.132+3045A>C
2g.215376582A>GCA350471451FN1c.5803T>C (p.Phe1935Leu)
c.5530T>C (p.Phe1844Leu)
c.5260T>C (p.Phe1754Leu)
c.5533T>C (p.Phe1845Leu)
c.1681T>C (p.Phe561Leu)
n.888T>C
n.6940T>C
n.132+3045A>G
2g.215376582A>TCA350471453FN1c.5803T>A (p.Phe1935Ile)
c.5530T>A (p.Phe1844Ile)
c.5260T>A (p.Phe1754Ile)
c.5533T>A (p.Phe1845Ile)
c.1681T>A (p.Phe561Ile)
n.888T>A
n.6940T>A
n.132+3045A>T
2g.215376583G>ACA431154990FN1c.5802C>T (p.Gly1934=)
c.5529C>T (p.Gly1843=)
c.5259C>T (p.Gly1753=)
c.5532C>T (p.Gly1844=)
c.1680C>T (p.Gly560=)
n.887C>T
n.6939C>T
n.132+3046G>A
2g.215376583G>CCA431154992FN1c.5802C>G (p.Gly1934=)
c.5529C>G (p.Gly1843=)
c.5259C>G (p.Gly1753=)
c.5532C>G (p.Gly1844=)
c.1680C>G (p.Gly560=)
n.887C>G
n.6939C>G
n.132+3046G>C
2g.215376583G>TCA431154991FN1c.5802C>A (p.Gly1934=)
c.5529C>A (p.Gly1843=)
c.5259C>A (p.Gly1753=)
c.5532C>A (p.Gly1844=)
c.1680C>A (p.Gly560=)
n.887C>A
n.6939C>A
n.132+3046G>T
2g.215376584C>ACA350471455FN1c.5801G>T (p.Gly1934Val)
c.5528G>T (p.Gly1843Val)
c.5258G>T (p.Gly1753Val)
c.5531G>T (p.Gly1844Val)
c.1679G>T (p.Gly560Val)
n.886G>T
n.6938G>T
n.132+3047C>A
2g.215376584C=CA1327346873FN1c.5801G= (p.Gly1934=)
c.5528G= (p.Gly1843=)
c.5258G= (p.Gly1753=)
c.5531G= (p.Gly1844=)
c.1679G= (p.Gly560=)
n.886G=
n.6938G=
n.132+3047C=
2g.215376584C>GCA350471457FN1c.5801G>C (p.Gly1934Ala)
c.5528G>C (p.Gly1843Ala)
c.5258G>C (p.Gly1753Ala)
c.5531G>C (p.Gly1844Ala)
c.1679G>C (p.Gly560Ala)
n.886G>C
n.6938G>C
n.132+3047C>G
2g.215376584C>TCA350471458FN1c.5801G>A (p.Gly1934Asp)
c.5528G>A (p.Gly1843Asp)
c.5258G>A (p.Gly1753Asp)
c.5531G>A (p.Gly1844Asp)
c.1679G>A (p.Gly560Asp)
n.886G>A
n.6938G>A
n.132+3047C>T
 dbSNP
2g.215376585C>ACA350471461FN1c.5800G>T (p.Gly1934Cys)
c.5527G>T (p.Gly1843Cys)
c.5257G>T (p.Gly1753Cys)
c.5530G>T (p.Gly1844Cys)
c.1678G>T (p.Gly560Cys)
n.885G>T
n.6937G>T
n.132+3048C>A
2g.215376585C>GCA350471463FN1c.5800G>C (p.Gly1934Arg)
c.5527G>C (p.Gly1843Arg)
c.5257G>C (p.Gly1753Arg)
c.5530G>C (p.Gly1844Arg)
c.1678G>C (p.Gly560Arg)
n.885G>C
n.6937G>C
n.132+3048C>G
2g.215376585C>TCA350471466FN1c.5800G>A (p.Gly1934Ser)
c.5527G>A (p.Gly1843Ser)
c.5257G>A (p.Gly1753Ser)
c.5530G>A (p.Gly1844Ser)
c.1678G>A (p.Gly560Ser)
n.885G>A
n.6937G>A
n.132+3048C>T
2g.215376586A=CA1327346874FN1c.5799T= (p.Thr1933=)
c.5526T= (p.Thr1842=)
c.5256T= (p.Thr1752=)
c.5529T= (p.Thr1843=)
c.1677T= (p.Thr559=)
n.884T=
n.6936T=
n.132+3049A=
2g.215376586A>CCA431154993FN1c.5799T>G (p.Thr1933=)
c.5526T>G (p.Thr1842=)
c.5256T>G (p.Thr1752=)
c.5529T>G (p.Thr1843=)
c.1677T>G (p.Thr559=)
n.884T>G
n.6936T>G
n.132+3049A>C
 dbSNP
2g.215376586A>GCA431154994FN1c.5799T>C (p.Thr1933=)
c.5526T>C (p.Thr1842=)
c.5256T>C (p.Thr1752=)
c.5529T>C (p.Thr1843=)
c.1677T>C (p.Thr559=)
n.884T>C
n.6936T>C
n.132+3049A>G
 gnomAD v4
2g.215376586A>TCA431154995FN1c.5799T>A (p.Thr1933=)
c.5526T>A (p.Thr1842=)
c.5256T>A (p.Thr1752=)
c.5529T>A (p.Thr1843=)
c.1677T>A (p.Thr559=)
n.884T>A
n.6936T>A
n.132+3049A>T
2g.215376587G>ACA350471468FN1c.5798C>T (p.Thr1933Ile)
c.5525C>T (p.Thr1842Ile)
c.5255C>T (p.Thr1752Ile)
c.5528C>T (p.Thr1843Ile)
c.1676C>T (p.Thr559Ile)
n.883C>T
n.6935C>T
n.132+3050G>A
 gnomAD v4
2g.215376587G>CCA350471472FN1c.5798C>G (p.Thr1933Ser)
c.5525C>G (p.Thr1842Ser)
c.5255C>G (p.Thr1752Ser)
c.5528C>G (p.Thr1843Ser)
c.1676C>G (p.Thr559Ser)
n.883C>G
n.6935C>G
n.132+3050G>C
 ClinVar gnomAD v4
2g.215376587G>TCA350471478FN1c.5798C>A (p.Thr1933Asn)
c.5525C>A (p.Thr1842Asn)
c.5255C>A (p.Thr1752Asn)
c.5528C>A (p.Thr1843Asn)
c.1676C>A (p.Thr559Asn)
n.883C>A
n.6935C>A
n.132+3050G>T
2g.215376588T>ACA350471484FN1c.5797A>T (p.Thr1933Ser)
c.5524A>T (p.Thr1842Ser)
c.5254A>T (p.Thr1752Ser)
c.5527A>T (p.Thr1843Ser)
c.1675A>T (p.Thr559Ser)
n.882A>T
n.6934A>T
n.132+3051T>A
2g.215376588T>CCA350471482FN1c.5797A>G (p.Thr1933Ala)
c.5524A>G (p.Thr1842Ala)
c.5254A>G (p.Thr1752Ala)
c.5527A>G (p.Thr1843Ala)
c.1675A>G (p.Thr559Ala)
n.882A>G
n.6934A>G
n.132+3051T>C
2g.215376588T>GCA350471480FN1c.5797A>C (p.Thr1933Pro)
c.5524A>C (p.Thr1842Pro)
c.5254A>C (p.Thr1752Pro)
c.5527A>C (p.Thr1843Pro)
c.1675A>C (p.Thr559Pro)
n.882A>C
n.6934A>C
n.132+3051T>G
2g.215376589G>ACA431154996FN1c.5796C>T (p.Ile1932=)
c.5523C>T (p.Ile1841=)
c.5253C>T (p.Ile1751=)
c.5526C>T (p.Ile1842=)
c.1674C>T (p.Ile558=)
n.881C>T
n.6933C>T
n.132+3052G>A
 gnomAD v4
2g.215376589G>CCA350471485FN1c.5796C>G (p.Ile1932Met)
c.5523C>G (p.Ile1841Met)
c.5253C>G (p.Ile1751Met)
c.5526C>G (p.Ile1842Met)
c.1674C>G (p.Ile558Met)
n.881C>G
n.6933C>G
n.132+3052G>C
2g.215376589G=CA1327346875FN1c.5796C= (p.Ile1932=)
c.5523C= (p.Ile1841=)
c.5253C= (p.Ile1751=)
c.5526C= (p.Ile1842=)
c.1674C= (p.Ile558=)
n.881C=
n.6933C=
n.132+3052G=
2g.215376589G>TCA2094031FN1c.5796C>A (p.Ile1932=)
c.5523C>A (p.Ile1841=)
c.5253C>A (p.Ile1751=)
c.5526C>A (p.Ile1842=)
c.1674C>A (p.Ile558=)
n.881C>A
n.6933C>A
n.132+3052G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.215376590A>CCA350471490FN1c.5795T>G (p.Ile1932Ser)
c.5522T>G (p.Ile1841Ser)
c.5252T>G (p.Ile1751Ser)
c.5525T>G (p.Ile1842Ser)
c.1673T>G (p.Ile558Ser)
n.880T>G
n.6932T>G
n.132+3053A>C
2g.215376590A>GCA350471492FN1c.5795T>C (p.Ile1932Thr)
c.5522T>C (p.Ile1841Thr)
c.5252T>C (p.Ile1751Thr)
c.5525T>C (p.Ile1842Thr)
c.1673T>C (p.Ile558Thr)
n.880T>C
n.6932T>C
n.132+3053A>G
2g.215376590A>TCA350471494FN1c.5795T>A (p.Ile1932Asn)
c.5522T>A (p.Ile1841Asn)
c.5252T>A (p.Ile1751Asn)
c.5525T>A (p.Ile1842Asn)
c.1673T>A (p.Ile558Asn)
n.880T>A
n.6932T>A
n.132+3053A>T
2g.215376591T>ACA350471496FN1c.5794A>T (p.Ile1932Phe)
c.5521A>T (p.Ile1841Phe)
c.5251A>T (p.Ile1751Phe)
c.5524A>T (p.Ile1842Phe)
c.1672A>T (p.Ile558Phe)
n.879A>T
n.6931A>T
n.132+3054T>A
2g.215376591T>CCA350471498FN1c.5794A>G (p.Ile1932Val)
c.5521A>G (p.Ile1841Val)
c.5251A>G (p.Ile1751Val)
c.5524A>G (p.Ile1842Val)
c.1672A>G (p.Ile558Val)
n.879A>G
n.6931A>G
n.132+3054T>C
2g.215376591T>GCA350471500FN1c.5794A>C (p.Ile1932Leu)
c.5521A>C (p.Ile1841Leu)
c.5251A>C (p.Ile1751Leu)
c.5524A>C (p.Ile1842Leu)
c.1672A>C (p.Ile558Leu)
n.879A>C
n.6931A>C
n.132+3054T>G
2g.215376592C>ACA431154997FN1c.5793G>T (p.Thr1931=)
c.5520G>T (p.Thr1840=)
c.5250G>T (p.Thr1750=)
c.5523G>T (p.Thr1841=)
c.1671G>T (p.Thr557=)
n.878G>T
n.6930G>T
n.132+3055C>A
2g.215376592C=CA1327346876FN1c.5793G= (p.Thr1931=)
c.5520G= (p.Thr1840=)
c.5250G= (p.Thr1750=)
c.5523G= (p.Thr1841=)
c.1671G= (p.Thr557=)
n.878G=
n.6930G=
n.132+3055C=
2g.215376592C>GCA431154998FN1c.5793G>C (p.Thr1931=)
c.5520G>C (p.Thr1840=)
c.5250G>C (p.Thr1750=)
c.5523G>C (p.Thr1841=)
c.1671G>C (p.Thr557=)
n.878G>C
n.6930G>C
n.132+3055C>G
 gnomAD v4
2g.215376592C>TCA2094032FN1c.5793G>A (p.Thr1931=)
c.5520G>A (p.Thr1840=)
c.5250G>A (p.Thr1750=)
c.5523G>A (p.Thr1841=)
c.1671G>A (p.Thr557=)
n.878G>A
n.6930G>A
n.132+3055C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215376593G>ACA2094033FN1c.5792C>T (p.Thr1931Met)
c.5519C>T (p.Thr1840Met)
c.5249C>T (p.Thr1750Met)
c.5522C>T (p.Thr1841Met)
c.1670C>T (p.Thr557Met)
n.877C>T
n.6929C>T
n.132+3056G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.215376593G>CCA350471505FN1c.5792C>G (p.Thr1931Arg)
c.5519C>G (p.Thr1840Arg)
c.5249C>G (p.Thr1750Arg)
c.5522C>G (p.Thr1841Arg)
c.1670C>G (p.Thr557Arg)
n.877C>G
n.6929C>G
n.132+3056G>C
2g.215376593G=CA1327346877FN1c.5792C= (p.Thr1931=)
c.5519C= (p.Thr1840=)
c.5249C= (p.Thr1750=)
c.5522C= (p.Thr1841=)
c.1670C= (p.Thr557=)
n.877C=
n.6929C=
n.132+3056G=
2g.215376593G>TCA350471507FN1c.5792C>A (p.Thr1931Lys)
c.5519C>A (p.Thr1840Lys)
c.5249C>A (p.Thr1750Lys)
c.5522C>A (p.Thr1841Lys)
c.1670C>A (p.Thr557Lys)
n.877C>A
n.6929C>A
n.132+3056G>T
2g.215376594T>ACA350471508FN1c.5791A>T (p.Thr1931Ser)
c.5518A>T (p.Thr1840Ser)
c.5248A>T (p.Thr1750Ser)
c.5521A>T (p.Thr1841Ser)
c.1669A>T (p.Thr557Ser)
n.876A>T
n.6928A>T
n.132+3057T>A
2g.215376594T>CCA350471510FN1c.5791A>G (p.Thr1931Ala)
c.5518A>G (p.Thr1840Ala)
c.5248A>G (p.Thr1750Ala)
c.5521A>G (p.Thr1841Ala)
c.1669A>G (p.Thr557Ala)
n.876A>G
n.6928A>G
n.132+3057T>C
2g.215376594T>GCA350471509FN1c.5791A>C (p.Thr1931Pro)
c.5518A>C (p.Thr1840Pro)
c.5248A>C (p.Thr1750Pro)
c.5521A>C (p.Thr1841Pro)
c.1669A>C (p.Thr557Pro)
n.876A>C
n.6928A>C
n.132+3057T>G
2g.215376595C>ACA350471511FN1c.5790G>T (p.Glu1930Asp)
c.5517G>T (p.Glu1839Asp)
c.5247G>T (p.Glu1749Asp)
c.5520G>T (p.Glu1840Asp)
c.1668G>T (p.Glu556Asp)
n.875G>T
n.6927G>T
n.132+3058C>A
2g.215376595C>GCA350471512FN1c.5790G>C (p.Glu1930Asp)
c.5517G>C (p.Glu1839Asp)
c.5247G>C (p.Glu1749Asp)
c.5520G>C (p.Glu1840Asp)
c.1668G>C (p.Glu556Asp)
n.875G>C
n.6927G>C
n.132+3058C>G
2g.215376595C>TCA431154999FN1c.5790G>A (p.Glu1930=)
c.5517G>A (p.Glu1839=)
c.5247G>A (p.Glu1749=)
c.5520G>A (p.Glu1840=)
c.1668G>A (p.Glu556=)
n.875G>A
n.6927G>A
n.132+3058C>T
2g.215376596T>ACA350471514FN1c.5789A>T (p.Glu1930Val)
c.5516A>T (p.Glu1839Val)
c.5246A>T (p.Glu1749Val)
c.5519A>T (p.Glu1840Val)
c.1667A>T (p.Glu556Val)
n.874A>T
n.6926A>T
n.132+3059T>A
2g.215376596T>CCA350471515FN1c.5789A>G (p.Glu1930Gly)
c.5516A>G (p.Glu1839Gly)
c.5246A>G (p.Glu1749Gly)
c.5519A>G (p.Glu1840Gly)
c.1667A>G (p.Glu556Gly)
n.874A>G
n.6926A>G
n.132+3059T>C
2g.215376596T>GCA350471517FN1c.5789A>C (p.Glu1930Ala)
c.5516A>C (p.Glu1839Ala)
c.5246A>C (p.Glu1749Ala)
c.5519A>C (p.Glu1840Ala)
c.1667A>C (p.Glu556Ala)
n.874A>C
n.6926A>C
n.132+3059T>G
2g.215376597C>ACA350471519FN1c.5788G>T (p.Glu1930Ter)
c.5515G>T (p.Glu1839Ter)
c.5245G>T (p.Glu1749Ter)
c.5518G>T (p.Glu1840Ter)
c.1666G>T (p.Glu556Ter)
n.873G>T
n.6925G>T
n.132+3060C>A
2g.215376597C>GCA350471520FN1c.5788G>C (p.Glu1930Gln)
c.5515G>C (p.Glu1839Gln)
c.5245G>C (p.Glu1749Gln)
c.5518G>C (p.Glu1840Gln)
c.1666G>C (p.Glu556Gln)
n.873G>C
n.6925G>C
n.132+3060C>G
2g.215376597C>TCA350471521FN1c.5788G>A (p.Glu1930Lys)
c.5515G>A (p.Glu1839Lys)
c.5245G>A (p.Glu1749Lys)
c.5518G>A (p.Glu1840Lys)
c.1666G>A (p.Glu556Lys)
n.873G>A
n.6925G>A
n.132+3060C>T
2g.215376598A=CA1327346878FN1c.5787T= (p.Thr1929=)
c.5514T= (p.Thr1838=)
c.5244T= (p.Thr1748=)
c.5517T= (p.Thr1839=)
c.1665T= (p.Thr555=)
n.872T=
n.6924T=
n.132+3061A=
2g.215376598A>CCA431155000FN1c.5787T>G (p.Thr1929=)
c.5514T>G (p.Thr1838=)
c.5244T>G (p.Thr1748=)
c.5517T>G (p.Thr1839=)
c.1665T>G (p.Thr555=)
n.872T>G
n.6924T>G
n.132+3061A>C
2g.215376598A>GCA64850069FN1c.5787T>C (p.Thr1929=)
c.5514T>C (p.Thr1838=)
c.5244T>C (p.Thr1748=)
c.5517T>C (p.Thr1839=)
c.1665T>C (p.Thr555=)
n.872T>C
n.6924T>C
n.132+3061A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.215376598A>TCA431155001FN1c.5787T>A (p.Thr1929=)
c.5514T>A (p.Thr1838=)
c.5244T>A (p.Thr1748=)
c.5517T>A (p.Thr1839=)
c.1665T>A (p.Thr555=)
n.872T>A
n.6924T>A
n.132+3061A>T
2g.215376599G>ACA350471527FN1c.5786C>T (p.Thr1929Ile)
c.5513C>T (p.Thr1838Ile)
c.5243C>T (p.Thr1748Ile)
c.5516C>T (p.Thr1839Ile)
c.1664C>T (p.Thr555Ile)
n.871C>T
n.6923C>T
n.132+3062G>A
2g.215376599G>CCA350471523FN1c.5786C>G (p.Thr1929Ser)
c.5513C>G (p.Thr1838Ser)
c.5243C>G (p.Thr1748Ser)
c.5516C>G (p.Thr1839Ser)
c.1664C>G (p.Thr555Ser)
n.871C>G
n.6923C>G
n.132+3062G>C
2g.215376599G>TCA350471524FN1c.5786C>A (p.Thr1929Asn)
c.5513C>A (p.Thr1838Asn)
c.5243C>A (p.Thr1748Asn)
c.5516C>A (p.Thr1839Asn)
c.1664C>A (p.Thr555Asn)
n.871C>A
n.6923C>A
n.132+3062G>T
2g.215376600T>ACA350471528FN1c.5785A>T (p.Thr1929Ser)
c.5512A>T (p.Thr1838Ser)
c.5242A>T (p.Thr1748Ser)
c.5515A>T (p.Thr1839Ser)
c.1663A>T (p.Thr555Ser)
n.870A>T
n.6922A>T
n.132+3063T>A
2g.215376600T>CCA350471530FN1c.5785A>G (p.Thr1929Ala)
c.5512A>G (p.Thr1838Ala)
c.5242A>G (p.Thr1748Ala)
c.5515A>G (p.Thr1839Ala)
c.1663A>G (p.Thr555Ala)
n.870A>G
n.6922A>G
n.132+3063T>C
2g.215376600T>GCA350471531FN1c.5785A>C (p.Thr1929Pro)
c.5512A>C (p.Thr1838Pro)
c.5242A>C (p.Thr1748Pro)
c.5515A>C (p.Thr1839Pro)
c.1663A>C (p.Thr555Pro)
n.870A>C
n.6922A>C
n.132+3063T>G
2g.215376601C>ACA350471533FN1c.5784G>T (p.Lys1928Asn)
c.5511G>T (p.Lys1837Asn)
c.5241G>T (p.Lys1747Asn)
c.5514G>T (p.Lys1838Asn)
c.1662G>T (p.Lys554Asn)
n.869G>T
n.6921G>T
n.132+3064C>A
2g.215376601C>GCA350471535FN1c.5784G>C (p.Lys1928Asn)
c.5511G>C (p.Lys1837Asn)
c.5241G>C (p.Lys1747Asn)
c.5514G>C (p.Lys1838Asn)
c.1662G>C (p.Lys554Asn)
n.869G>C
n.6921G>C
n.132+3064C>G
2g.215376601C>TCA431155002FN1c.5784G>A (p.Lys1928=)
c.5511G>A (p.Lys1837=)
c.5241G>A (p.Lys1747=)
c.5514G>A (p.Lys1838=)
c.1662G>A (p.Lys554=)
n.869G>A
n.6921G>A
n.132+3064C>T
 gnomAD v4
2g.215376602T>ACA350471537FN1c.5783A>T (p.Lys1928Met)
c.5510A>T (p.Lys1837Met)
c.5240A>T (p.Lys1747Met)
c.5513A>T (p.Lys1838Met)
c.1661A>T (p.Lys554Met)
n.868A>T
n.6920A>T
n.132+3065T>A
2g.215376602T>CCA350471542FN1c.5783A>G (p.Lys1928Arg)
c.5510A>G (p.Lys1837Arg)
c.5240A>G (p.Lys1747Arg)
c.5513A>G (p.Lys1838Arg)
c.1661A>G (p.Lys554Arg)
n.868A>G
n.6920A>G
n.132+3065T>C
2g.215376602T>GCA350471540FN1c.5783A>C (p.Lys1928Thr)
c.5510A>C (p.Lys1837Thr)
c.5240A>C (p.Lys1747Thr)
c.5513A>C (p.Lys1838Thr)
c.1661A>C (p.Lys554Thr)
n.868A>C
n.6920A>C
n.132+3065T>G
2g.215376603T>ACA350471543FN1c.5782A>T (p.Lys1928Ter)
c.5509A>T (p.Lys1837Ter)
c.5239A>T (p.Lys1747Ter)
c.5512A>T (p.Lys1838Ter)
c.1660A>T (p.Lys554Ter)
n.867A>T
n.6919A>T
n.132+3066T>A
2g.215376603T>CCA350471545FN1c.5782A>G (p.Lys1928Glu)
c.5509A>G (p.Lys1837Glu)
c.5239A>G (p.Lys1747Glu)
c.5512A>G (p.Lys1838Glu)
c.1660A>G (p.Lys554Glu)
n.867A>G
n.6919A>G
n.132+3066T>C
2g.215376603T>GCA350471547FN1c.5782A>C (p.Lys1928Gln)
c.5509A>C (p.Lys1837Gln)
c.5239A>C (p.Lys1747Gln)
c.5512A>C (p.Lys1838Gln)
c.1660A>C (p.Lys554Gln)
n.867A>C
n.6919A>C
n.132+3066T>G
2g.215376604G>ACA431155003FN1c.5781C>T (p.Thr1927=)
c.5508C>T (p.Thr1836=)
c.5238C>T (p.Thr1746=)
c.5511C>T (p.Thr1837=)
c.1659C>T (p.Thr553=)
n.866C>T
n.6918C>T
n.132+3067G>A
 dbSNP
2g.215376604G>CCA431155005FN1c.5781C>G (p.Thr1927=)
c.5508C>G (p.Thr1836=)
c.5238C>G (p.Thr1746=)
c.5511C>G (p.Thr1837=)
c.1659C>G (p.Thr553=)
n.866C>G
n.6918C>G
n.132+3067G>C
2g.215376604G=CA1327346879FN1c.5781C= (p.Thr1927=)
c.5508C= (p.Thr1836=)
c.5238C= (p.Thr1746=)
c.5511C= (p.Thr1837=)
c.1659C= (p.Thr553=)
n.866C=
n.6918C=
n.132+3067G=
2g.215376604G>TCA431155004FN1c.5781C>A (p.Thr1927=)
c.5508C>A (p.Thr1836=)
c.5238C>A (p.Thr1746=)
c.5511C>A (p.Thr1837=)
c.1659C>A (p.Thr553=)
n.866C>A
n.6918C>A
n.132+3067G>T
2g.215376605G>ACA350471549FN1c.5780C>T (p.Thr1927Ile)
c.5507C>T (p.Thr1836Ile)
c.5237C>T (p.Thr1746Ile)
c.5510C>T (p.Thr1837Ile)
c.1658C>T (p.Thr553Ile)
n.865C>T
n.6917C>T
n.132+3068G>A
 gnomAD v4
2g.215376605G>CCA350471551FN1c.5780C>G (p.Thr1927Ser)
c.5507C>G (p.Thr1836Ser)
c.5237C>G (p.Thr1746Ser)
c.5510C>G (p.Thr1837Ser)
c.1658C>G (p.Thr553Ser)
n.865C>G
n.6917C>G
n.132+3068G>C
2g.215376605G>TCA350471552FN1c.5780C>A (p.Thr1927Asn)
c.5507C>A (p.Thr1836Asn)
c.5237C>A (p.Thr1746Asn)
c.5510C>A (p.Thr1837Asn)
c.1658C>A (p.Thr553Asn)
n.865C>A
n.6917C>A
n.132+3068G>T
2g.215376606T>ACA350471553FN1c.5779A>T (p.Thr1927Ser)
c.5506A>T (p.Thr1836Ser)
c.5236A>T (p.Thr1746Ser)
c.5509A>T (p.Thr1837Ser)
c.1657A>T (p.Thr553Ser)
n.864A>T
n.6916A>T
n.132+3069T>A
2g.215376606T>CCA350471554FN1c.5779A>G (p.Thr1927Ala)
c.5506A>G (p.Thr1836Ala)
c.5236A>G (p.Thr1746Ala)
c.5509A>G (p.Thr1837Ala)
c.1657A>G (p.Thr553Ala)
n.864A>G
n.6916A>G
n.132+3069T>C
2g.215376606T>GCA350471555FN1c.5779A>C (p.Thr1927Pro)
c.5506A>C (p.Thr1836Pro)
c.5236A>C (p.Thr1746Pro)
c.5509A>C (p.Thr1837Pro)
c.1657A>C (p.Thr553Pro)
n.864A>C
n.6916A>C
n.132+3069T>G
2g.215376607T>ACA350471557FN1c.5778A>T (p.Arg1926Ser)
c.5505A>T (p.Arg1835Ser)
c.5235A>T (p.Arg1745Ser)
c.5508A>T (p.Arg1836Ser)
c.1656A>T (p.Arg552Ser)
n.863A>T
n.6915A>T
n.132+3070T>A
2g.215376607T>CCA431155006FN1c.5778A>G (p.Arg1926=)
c.5505A>G (p.Arg1835=)
c.5235A>G (p.Arg1745=)
c.5508A>G (p.Arg1836=)
c.1656A>G (p.Arg552=)
n.863A>G
n.6915A>G
n.132+3070T>C
2g.215376607T>GCA350471559FN1c.5778A>C (p.Arg1926Ser)
c.5505A>C (p.Arg1835Ser)
c.5235A>C (p.Arg1745Ser)
c.5508A>C (p.Arg1836Ser)
c.1656A>C (p.Arg552Ser)
n.863A>C
n.6915A>C
n.132+3070T>G
2g.215376608C>ACA350471561FN1c.5777G>T (p.Arg1926Ile)
c.5504G>T (p.Arg1835Ile)
c.5234G>T (p.Arg1745Ile)
c.5507G>T (p.Arg1836Ile)
c.1655G>T (p.Arg552Ile)
n.862G>T
n.6914G>T
n.132+3071C>A
2g.215376608C>GCA350471565FN1c.5777G>C (p.Arg1926Thr)
c.5504G>C (p.Arg1835Thr)
c.5234G>C (p.Arg1745Thr)
c.5507G>C (p.Arg1836Thr)
c.1655G>C (p.Arg552Thr)
n.862G>C
n.6914G>C
n.132+3071C>G
2g.215376608C>TCA350471563FN1c.5777G>A (p.Arg1926Lys)
c.5504G>A (p.Arg1835Lys)
c.5234G>A (p.Arg1745Lys)
c.5507G>A (p.Arg1836Lys)
c.1655G>A (p.Arg552Lys)
n.862G>A
n.6914G>A
n.132+3071C>T
2g.215376609T>ACA350471572FN1c.5776A>T (p.Arg1926Ter)
c.5503A>T (p.Arg1835Ter)
c.5233A>T (p.Arg1745Ter)
c.5506A>T (p.Arg1836Ter)
c.1654A>T (p.Arg552Ter)
n.861A>T
n.6913A>T
n.132+3072T>A
2g.215376609T>CCA350471574FN1c.5776A>G (p.Arg1926Gly)
c.5503A>G (p.Arg1835Gly)
c.5233A>G (p.Arg1745Gly)
c.5506A>G (p.Arg1836Gly)
c.1654A>G (p.Arg552Gly)
n.861A>G
n.6913A>G
n.132+3072T>C
2g.215376609T>GCA431155007FN1c.5776A>C (p.Arg1926=)
c.5503A>C (p.Arg1835=)
c.5233A>C (p.Arg1745=)
c.5506A>C (p.Arg1836=)
c.1654A>C (p.Arg552=)
n.861A>C
n.6913A>C
n.132+3072T>G
2g.215376610C>ACA350471577FN1c.5775G>T (p.Trp1925Cys)
c.5502G>T (p.Trp1834Cys)
c.5232G>T (p.Trp1744Cys)
c.5505G>T (p.Trp1835Cys)
c.1653G>T (p.Trp551Cys)
n.860G>T
n.6912G>T
n.132+3073C>A
2g.215376610C=CA1327346880FN1c.5775G= (p.Trp1925=)
c.5502G= (p.Trp1834=)
c.5232G= (p.Trp1744=)
c.5505G= (p.Trp1835=)
c.1653G= (p.Trp551=)
n.860G=
n.6912G=
n.132+3073C=
2g.215376610C>GCA352250FN1c.5775G>C (p.Trp1925Cys)
c.5502G>C (p.Trp1834Cys)
c.5232G>C (p.Trp1744Cys)
c.5505G>C (p.Trp1835Cys)
c.1653G>C (p.Trp551Cys)
n.860G>C
n.6912G>C
n.132+3073C>G
 ClinVar dbSNP gnomAD v4
2g.215376610C>TCA350471580FN1c.5775G>A (p.Trp1925Ter)
c.5502G>A (p.Trp1834Ter)
c.5232G>A (p.Trp1744Ter)
c.5505G>A (p.Trp1835Ter)
c.1653G>A (p.Trp551Ter)
n.860G>A
n.6912G>A
n.132+3073C>T
2g.215376611delCA2577236403FN1c.5775del (p.Trp1925Ter)
c.5502del (p.Trp1834Ter)
c.5232del (p.Trp1744Ter)
c.5505del (p.Trp1835Ter)
c.1653del (p.Trp551Ter)
n.860del
n.6912del
n.132+3074del
2g.215376611C>ACA350471582FN1c.5774G>T (p.Trp1925Leu)
c.5501G>T (p.Trp1834Leu)
c.5231G>T (p.Trp1744Leu)
c.5504G>T (p.Trp1835Leu)
c.1652G>T (p.Trp551Leu)
n.859G>T
n.6911G>T
n.132+3074C>A
2g.215376611C>GCA350471583FN1c.5774G>C (p.Trp1925Ser)
c.5501G>C (p.Trp1834Ser)
c.5231G>C (p.Trp1744Ser)
c.5504G>C (p.Trp1835Ser)
c.1652G>C (p.Trp551Ser)
n.859G>C
n.6911G>C
n.132+3074C>G
2g.215376611C>TCA350471584FN1c.5774G>A (p.Trp1925Ter)
c.5501G>A (p.Trp1834Ter)
c.5231G>A (p.Trp1744Ter)
c.5504G>A (p.Trp1835Ter)
c.1652G>A (p.Trp551Ter)
n.859G>A
n.6911G>A
n.132+3074C>T
 gnomAD v4
2g.215376612A=CA1327346881FN1c.5773T= (p.Trp1925=)
c.5500T= (p.Trp1834=)
c.5230T= (p.Trp1744=)
c.5503T= (p.Trp1835=)
c.1651T= (p.Trp551=)
n.858T=
n.6910T=
n.132+3075A=
2g.215376612A>CCA350471585FN1c.5773T>G (p.Trp1925Gly)
c.5500T>G (p.Trp1834Gly)
c.5230T>G (p.Trp1744Gly)
c.5503T>G (p.Trp1835Gly)
c.1651T>G (p.Trp551Gly)
n.858T>G
n.6910T>G
n.132+3075A>C
2g.215376612A>GCA350471586FN1c.5773T>C (p.Trp1925Arg)
c.5500T>C (p.Trp1834Arg)
c.5230T>C (p.Trp1744Arg)
c.5503T>C (p.Trp1835Arg)
c.1651T>C (p.Trp551Arg)
n.858T>C
n.6910T>C
n.132+3075A>G
 gnomAD v4
2g.215376612A>TCA126364FN1c.5773T>A (p.Trp1925Arg)
c.5500T>A (p.Trp1834Arg)
c.5230T>A (p.Trp1744Arg)
c.5503T>A (p.Trp1835Arg)
c.1651T>A (p.Trp551Arg)
n.858T>A
n.6910T>A
n.132+3075A>T
 ClinVar dbSNP
2g.215376613G>ACA431155008FN1c.5772C>T (p.Ser1924=)
c.5499C>T (p.Ser1833=)
c.5229C>T (p.Ser1743=)
c.5502C>T (p.Ser1834=)
c.1650C>T (p.Ser550=)
n.857C>T
n.6909C>T
n.132+3076G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.215376613G>CCA350471587FN1c.5772C>G (p.Ser1924Arg)
c.5499C>G (p.Ser1833Arg)
c.5229C>G (p.Ser1743Arg)
c.5502C>G (p.Ser1834Arg)
c.1650C>G (p.Ser550Arg)
n.857C>G
n.6909C>G
n.132+3076G>C
 gnomAD v4
2g.215376613G=CA1327346882FN1c.5772C= (p.Ser1924=)
c.5499C= (p.Ser1833=)
c.5229C= (p.Ser1743=)
c.5502C= (p.Ser1834=)
c.1650C= (p.Ser550=)
n.857C=
n.6909C=
n.132+3076G=
2g.215376613G>TCA350471589FN1c.5772C>A (p.Ser1924Arg)
c.5499C>A (p.Ser1833Arg)
c.5229C>A (p.Ser1743Arg)
c.5502C>A (p.Ser1834Arg)
c.1650C>A (p.Ser550Arg)
n.857C>A
n.6909C>A
n.132+3076G>T
2g.215376614C>ACA350471590FN1c.5771G>T (p.Ser1924Ile)
c.5498G>T (p.Ser1833Ile)
c.5228G>T (p.Ser1743Ile)
c.5501G>T (p.Ser1834Ile)
c.1649G>T (p.Ser550Ile)
n.856G>T
n.6908G>T
n.132+3077C>A
2g.215376614C>GCA350471593FN1c.5771G>C (p.Ser1924Thr)
c.5498G>C (p.Ser1833Thr)
c.5228G>C (p.Ser1743Thr)
c.5501G>C (p.Ser1834Thr)
c.1649G>C (p.Ser550Thr)
n.856G>C
n.6908G>C
n.132+3077C>G
2g.215376614C>TCA350471591FN1c.5771G>A (p.Ser1924Asn)
c.5498G>A (p.Ser1833Asn)
c.5228G>A (p.Ser1743Asn)
c.5501G>A (p.Ser1834Asn)
c.1649G>A (p.Ser550Asn)
n.856G>A
n.6908G>A
n.132+3077C>T
2g.215376615T>ACA350471598FN1c.5770A>T (p.Ser1924Cys)
c.5497A>T (p.Ser1833Cys)
c.5227A>T (p.Ser1743Cys)
c.5500A>T (p.Ser1834Cys)
c.1648A>T (p.Ser550Cys)
n.855A>T
n.6907A>T
n.132+3078T>A
2g.215376615T>CCA350471599FN1c.5770A>G (p.Ser1924Gly)
c.5497A>G (p.Ser1833Gly)
c.5227A>G (p.Ser1743Gly)
c.5500A>G (p.Ser1834Gly)
c.1648A>G (p.Ser550Gly)
n.855A>G
n.6907A>G
n.132+3078T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.215376615T>GCA350471600FN1c.5770A>C (p.Ser1924Arg)
c.5497A>C (p.Ser1833Arg)
c.5227A>C (p.Ser1743Arg)
c.5500A>C (p.Ser1834Arg)
c.1648A>C (p.Ser550Arg)
n.855A>C
n.6907A>C
n.132+3078T>G
2g.215376615T=CA1327346883FN1c.5770A= (p.Ser1924=)
c.5497A= (p.Ser1833=)
c.5227A= (p.Ser1743=)
c.5500A= (p.Ser1834=)
c.1648A= (p.Ser550=)
n.855A=
n.6907A=
n.132+3078T=
2g.215376616A=CA1327346884FN1c.5769T= (p.Ile1923=)
c.5496T= (p.Ile1832=)
c.5226T= (p.Ile1742=)
c.5499T= (p.Ile1833=)
c.1647T= (p.Ile549=)
n.854T=
n.6906T=
n.132+3079A=
2g.215376616A>CCA350471602FN1c.5769T>G (p.Ile1923Met)
c.5496T>G (p.Ile1832Met)
c.5226T>G (p.Ile1742Met)
c.5499T>G (p.Ile1833Met)
c.1647T>G (p.Ile549Met)
n.854T>G
n.6906T>G
n.132+3079A>C
 dbSNP gnomAD v4
2g.215376616A>GCA431155009FN1c.5769T>C (p.Ile1923=)
c.5496T>C (p.Ile1832=)
c.5226T>C (p.Ile1742=)
c.5499T>C (p.Ile1833=)
c.1647T>C (p.Ile549=)
n.854T>C
n.6906T>C
n.132+3079A>G
 ClinVar gnomAD v4
2g.215376616A>TCA431155010FN1c.5769T>A (p.Ile1923=)
c.5496T>A (p.Ile1832=)
c.5226T>A (p.Ile1742=)
c.5499T>A (p.Ile1833=)
c.1647T>A (p.Ile549=)
n.854T>A
n.6906T>A
n.132+3079A>T
2g.215376617A>CCA350471604FN1c.5768T>G (p.Ile1923Ser)
c.5495T>G (p.Ile1832Ser)
c.5225T>G (p.Ile1742Ser)
c.5498T>G (p.Ile1833Ser)
c.1646T>G (p.Ile549Ser)
n.853T>G
n.6905T>G
n.132+3080A>C
2g.215376617A>GCA350471606FN1c.5768T>C (p.Ile1923Thr)
c.5495T>C (p.Ile1832Thr)
c.5225T>C (p.Ile1742Thr)
c.5498T>C (p.Ile1833Thr)
c.1646T>C (p.Ile549Thr)
n.853T>C
n.6905T>C
n.132+3080A>G
 gnomAD v4
2g.215376617A>TCA350471608FN1c.5768T>A (p.Ile1923Asn)
c.5495T>A (p.Ile1832Asn)
c.5225T>A (p.Ile1742Asn)
c.5498T>A (p.Ile1833Asn)
c.1646T>A (p.Ile549Asn)
n.853T>A
n.6905T>A
n.132+3080A>T
2g.215376618T>ACA350471613FN1c.5767A>T (p.Ile1923Phe)
c.5494A>T (p.Ile1832Phe)
c.5224A>T (p.Ile1742Phe)
c.5497A>T (p.Ile1833Phe)
c.1645A>T (p.Ile549Phe)
n.852A>T
n.6904A>T
n.132+3081T>A
2g.215376618T>CCA350471615FN1c.5767A>G (p.Ile1923Val)
c.5494A>G (p.Ile1832Val)
c.5224A>G (p.Ile1742Val)
c.5497A>G (p.Ile1833Val)
c.1645A>G (p.Ile549Val)
n.852A>G
n.6904A>G
n.132+3081T>C
 gnomAD v4
2g.215376618T>GCA350471618FN1c.5767A>C (p.Ile1923Leu)
c.5494A>C (p.Ile1832Leu)
c.5224A>C (p.Ile1742Leu)
c.5497A>C (p.Ile1833Leu)
c.1645A>C (p.Ile549Leu)
n.852A>C
n.6904A>C
n.132+3081T>G
2g.215376619G>ACA431155011FN1c.5766C>T (p.Thr1922=)
c.5493C>T (p.Thr1831=)
c.5223C>T (p.Thr1741=)
c.5496C>T (p.Thr1832=)
c.1644C>T (p.Thr548=)
n.851C>T
n.6903C>T
n.132+3082G>A
2g.215376619G>CCA431155012FN1c.5766C>G (p.Thr1922=)
c.5493C>G (p.Thr1831=)
c.5223C>G (p.Thr1741=)
c.5496C>G (p.Thr1832=)
c.1644C>G (p.Thr548=)
n.851C>G
n.6903C>G
n.132+3082G>C
2g.215376619G>TCA431155013FN1c.5766C>A (p.Thr1922=)
c.5493C>A (p.Thr1831=)
c.5223C>A (p.Thr1741=)
c.5496C>A (p.Thr1832=)
c.1644C>A (p.Thr548=)
n.851C>A
n.6903C>A
n.132+3082G>T

Number of alleles fetched