Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.95101746C>ACA466092061AOPEP,FANCCn.410+20966C>A
n.2453G>T
c.1638G>T (p.Leu546=)
c.1783G>T (n.1783G>T)
c.957G>T (p.Leu319=)
c.1473G>T (p.Leu491=)
c.1182G>T (p.Leu394=)
c.2319+20966C>A (n.2319+20966C>A)
c.1017G>T (p.Leu339=)
9g.95101746C=CA1865459519AOPEP,FANCCn.410+20966C=
n.2453G=
c.1638G= (p.Leu546=)
c.1783G= (n.1783G=)
c.957G= (p.Leu319=)
c.1473G= (p.Leu491=)
c.1182G= (p.Leu394=)
c.2319+20966C= (n.2319+20966C=)
c.1017G= (p.Leu339=)
9g.95101746C>GCA466092062AOPEP,FANCCn.410+20966C>G
n.2453G>C
c.1638G>C (p.Leu546=)
c.1783G>C (n.1783G>C)
c.957G>C (p.Leu319=)
c.1473G>C (p.Leu491=)
c.1182G>C (p.Leu394=)
c.2319+20966C>G (n.2319+20966C>G)
c.1017G>C (p.Leu339=)
9g.95101746C>TCA466092063AOPEP,FANCCn.410+20966C>T
n.2453G>A
c.1638G>A (p.Leu546=)
c.1783G>A (n.1783G>A)
c.957G>A (p.Leu319=)
c.1473G>A (p.Leu491=)
c.1182G>A (p.Leu394=)
c.2319+20966C>T (n.2319+20966C>T)
c.1017G>A (p.Leu339=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.95101747A=CA1865459520AOPEP,FANCCn.410+20967A=
n.2452T=
c.1637T= (p.Leu546=)
c.1782T= (n.1782T=)
c.956T= (p.Leu319=)
c.1472T= (p.Leu491=)
c.1181T= (p.Leu394=)
c.2319+20967A= (n.2319+20967A=)
c.1016T= (p.Leu339=)
9g.95101747A>CCA374104336AOPEP,FANCCn.410+20967A>C
n.2452T>G
c.1637T>G (p.Leu546Arg)
c.1782T>G (n.1782T>G)
c.956T>G (p.Leu319Arg)
c.1472T>G (p.Leu491Arg)
c.1181T>G (p.Leu394Arg)
c.2319+20967A>C (n.2319+20967A>C)
c.1016T>G (p.Leu339Arg)
9g.95101747A>GCA374104334AOPEP,FANCCn.410+20967A>G
n.2452T>C
c.1637T>C (p.Leu546Pro)
c.1782T>C (n.1782T>C)
c.956T>C (p.Leu319Pro)
c.1472T>C (p.Leu491Pro)
c.1181T>C (p.Leu394Pro)
c.2319+20967A>G (n.2319+20967A>G)
c.1016T>C (p.Leu339Pro)
 dbSNP gnomAD v3 gnomAD v4
9g.95101747A>TCA374104332AOPEP,FANCCn.410+20967A>T
n.2452T>A
c.1637T>A (p.Leu546Gln)
c.1782T>A (n.1782T>A)
c.956T>A (p.Leu319Gln)
c.1472T>A (p.Leu491Gln)
c.1181T>A (p.Leu394Gln)
c.2319+20967A>T (n.2319+20967A>T)
c.1016T>A (p.Leu339Gln)
9g.95101748G>ACA466092064AOPEP,FANCCn.410+20968G>A
n.2451C>T
c.1636C>T (p.Leu546=)
c.1781C>T (n.1781C>T)
c.955C>T (p.Leu319=)
c.1471C>T (p.Leu491=)
c.1180C>T (p.Leu394=)
c.2319+20968G>A (n.2319+20968G>A)
c.1015C>T (p.Leu339=)
9g.95101748G>CCA374104339AOPEP,FANCCn.410+20968G>C
n.2451C>G
c.1636C>G (p.Leu546Val)
c.1781C>G (n.1781C>G)
c.955C>G (p.Leu319Val)
c.1471C>G (p.Leu491Val)
c.1180C>G (p.Leu394Val)
c.2319+20968G>C (n.2319+20968G>C)
c.1015C>G (p.Leu339Val)
 ClinVar dbSNP gnomAD v4
9g.95101748G=CA1865459521AOPEP,FANCCn.410+20968G=
n.2451C=
c.1636C= (p.Leu546=)
c.1781C= (n.1781C=)
c.955C= (p.Leu319=)
c.1471C= (p.Leu491=)
c.1180C= (p.Leu394=)
c.2319+20968G= (n.2319+20968G=)
c.1015C= (p.Leu339=)
9g.95101748G>TCA374104341AOPEP,FANCCn.410+20968G>T
n.2451C>A
c.1636C>A (p.Leu546Met)
c.1781C>A (n.1781C>A)
c.955C>A (p.Leu319Met)
c.1471C>A (p.Leu491Met)
c.1180C>A (p.Leu394Met)
c.2319+20968G>T (n.2319+20968G>T)
c.1015C>A (p.Leu339Met)
9g.95101749T>ACA374104344AOPEP,FANCCn.410+20969T>A
n.2450A>T
c.1635A>T (p.Lys545Asn)
c.1780A>T (n.1780A>T)
c.954A>T (p.Lys318Asn)
c.1470A>T (p.Lys490Asn)
c.1179A>T (p.Lys393Asn)
c.2319+20969T>A (n.2319+20969T>A)
c.1014A>T (p.Lys338Asn)
9g.95101749T>CCA466092065AOPEP,FANCCn.410+20969T>C
n.2450A>G
c.1635A>G (p.Lys545=)
c.1780A>G (n.1780A>G)
c.954A>G (p.Lys318=)
c.1470A>G (p.Lys490=)
c.1179A>G (p.Lys393=)
c.2319+20969T>C (n.2319+20969T>C)
c.1014A>G (p.Lys338=)
9g.95101749T>GCA374104346AOPEP,FANCCn.410+20969T>G
n.2450A>C
c.1635A>C (p.Lys545Asn)
c.1780A>C (n.1780A>C)
c.954A>C (p.Lys318Asn)
c.1470A>C (p.Lys490Asn)
c.1179A>C (p.Lys393Asn)
c.2319+20969T>G (n.2319+20969T>G)
c.1014A>C (p.Lys338Asn)
9g.95101751_95101753delCA2573053198AOPEP,FANCCn.410+20971_410+20973del
n.2448_2450del
c.1633_1635del (p.Lys545del)
c.1778_1780del (n.1778_1780del)
c.952_954del (p.Lys318del)
c.1468_1470del (p.Lys490del)
c.1177_1179del (p.Lys393del)
c.2319+20971_2319+20973del (n.2319+20971_2319+20973del)
c.1012_1014del (p.Lys338del)
 ClinVar dbSNP
9g.95101750T>ACA374104347AOPEP,FANCCn.410+20970T>A
n.2449A>T
c.1634A>T (p.Lys545Ile)
c.1779A>T (n.1779A>T)
c.953A>T (p.Lys318Ile)
c.1469A>T (p.Lys490Ile)
c.1178A>T (p.Lys393Ile)
c.2319+20970T>A (n.2319+20970T>A)
c.1013A>T (p.Lys338Ile)
9g.95101750T>CCA5137290AOPEP,FANCCn.410+20970T>C
n.2449A>G
c.1634A>G (p.Lys545Arg)
c.1779A>G (n.1779A>G)
c.953A>G (p.Lys318Arg)
c.1469A>G (p.Lys490Arg)
c.1178A>G (p.Lys393Arg)
c.2319+20970T>C (n.2319+20970T>C)
c.1013A>G (p.Lys338Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101750T>GCA374104350AOPEP,FANCCn.410+20970T>G
n.2449A>C
c.1634A>C (p.Lys545Thr)
c.1779A>C (n.1779A>C)
c.953A>C (p.Lys318Thr)
c.1469A>C (p.Lys490Thr)
c.1178A>C (p.Lys393Thr)
c.2319+20970T>G (n.2319+20970T>G)
c.1013A>C (p.Lys338Thr)
9g.95101750T=CA1865459522AOPEP,FANCCn.410+20970T=
n.2449A=
c.1634A= (p.Lys545=)
c.1779A= (n.1779A=)
c.953A= (p.Lys318=)
c.1469A= (p.Lys490=)
c.1178A= (p.Lys393=)
c.2319+20970T= (n.2319+20970T=)
c.1013A= (p.Lys338=)
9g.95101751T>ACA374104353AOPEP,FANCCn.410+20971T>A
n.2448A>T
c.1633A>T (p.Lys545Ter)
c.1778A>T (n.1778A>T)
c.952A>T (p.Lys318Ter)
c.1468A>T (p.Lys490Ter)
c.1177A>T (p.Lys393Ter)
c.2319+20971T>A (n.2319+20971T>A)
c.1012A>T (p.Lys338Ter)
9g.95101751T>CCA16618872AOPEP,FANCCn.410+20971T>C
n.2448A>G
c.1633A>G (p.Lys545Glu)
c.1778A>G (n.1778A>G)
c.952A>G (p.Lys318Glu)
c.1468A>G (p.Lys490Glu)
c.1177A>G (p.Lys393Glu)
c.2319+20971T>C (n.2319+20971T>C)
c.1012A>G (p.Lys338Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.95101751T>GCA16618873AOPEP,FANCCn.410+20971T>G
n.2448A>C
c.1633A>C (p.Lys545Gln)
c.1778A>C (n.1778A>C)
c.952A>C (p.Lys318Gln)
c.1468A>C (p.Lys490Gln)
c.1177A>C (p.Lys393Gln)
c.2319+20971T>G (n.2319+20971T>G)
c.1012A>C (p.Lys338Gln)
 ClinVar dbSNP
9g.95101751T=CA1865459523AOPEP,FANCCn.410+20971T=
n.2448A=
c.1633A= (p.Lys545=)
c.1778A= (n.1778A=)
c.952A= (p.Lys318=)
c.1468A= (p.Lys490=)
c.1177A= (p.Lys393=)
c.2319+20971T= (n.2319+20971T=)
c.1012A= (p.Lys338=)
9g.95101752T>ACA374104357AOPEP,FANCCn.410+20972T>A
n.2447A>T
c.1632A>T (p.Glu544Asp)
c.1777A>T (n.1777A>T)
c.951A>T (p.Glu317Asp)
c.1467A>T (p.Glu489Asp)
c.1176A>T (p.Glu392Asp)
c.2319+20972T>A (n.2319+20972T>A)
c.1011A>T (p.Glu337Asp)
9g.95101752T>CCA466092066AOPEP,FANCCn.410+20972T>C
n.2447A>G
c.1632A>G (p.Glu544=)
c.1777A>G (n.1777A>G)
c.951A>G (p.Glu317=)
c.1467A>G (p.Glu489=)
c.1176A>G (p.Glu392=)
c.2319+20972T>C (n.2319+20972T>C)
c.1011A>G (p.Glu337=)
 gnomAD v4
9g.95101752T>GCA374104359AOPEP,FANCCn.410+20972T>G
n.2447A>C
c.1632A>C (p.Glu544Asp)
c.1777A>C (n.1777A>C)
c.951A>C (p.Glu317Asp)
c.1467A>C (p.Glu489Asp)
c.1176A>C (p.Glu392Asp)
c.2319+20972T>G (n.2319+20972T>G)
c.1011A>C (p.Glu337Asp)
9g.95101753T>ACA374104366AOPEP,FANCCn.410+20973T>A
n.2446A>T
c.1631A>T (p.Glu544Val)
c.1776A>T (n.1776A>T)
c.950A>T (p.Glu317Val)
c.1466A>T (p.Glu489Val)
c.1175A>T (p.Glu392Val)
c.2319+20973T>A (n.2319+20973T>A)
c.1010A>T (p.Glu337Val)
9g.95101753T>CCA374104364AOPEP,FANCCn.410+20973T>C
n.2446A>G
c.1631A>G (p.Glu544Gly)
c.1776A>G (n.1776A>G)
c.950A>G (p.Glu317Gly)
c.1466A>G (p.Glu489Gly)
c.1175A>G (p.Glu392Gly)
c.2319+20973T>C (n.2319+20973T>C)
c.1010A>G (p.Glu337Gly)
 ClinVar gnomAD v4
9g.95101753T>GCA374104362AOPEP,FANCCn.410+20973T>G
n.2446A>C
c.1631A>C (p.Glu544Ala)
c.1776A>C (n.1776A>C)
c.950A>C (p.Glu317Ala)
c.1466A>C (p.Glu489Ala)
c.1175A>C (p.Glu392Ala)
c.2319+20973T>G (n.2319+20973T>G)
c.1010A>C (p.Glu337Ala)
9g.95101754C>ACA374104372AOPEP,FANCCn.410+20974C>A
n.2445G>T
c.1630G>T (p.Glu544Ter)
c.1775G>T (n.1775G>T)
c.949G>T (p.Glu317Ter)
c.1465G>T (p.Glu489Ter)
c.1174G>T (p.Glu392Ter)
c.2319+20974C>A (n.2319+20974C>A)
c.1009G>T (p.Glu337Ter)
9g.95101754C>GCA374104369AOPEP,FANCCn.410+20974C>G
n.2445G>C
c.1630G>C (p.Glu544Gln)
c.1775G>C (n.1775G>C)
c.949G>C (p.Glu317Gln)
c.1465G>C (p.Glu489Gln)
c.1174G>C (p.Glu392Gln)
c.2319+20974C>G (n.2319+20974C>G)
c.1009G>C (p.Glu337Gln)
9g.95101754C>TCA374104371AOPEP,FANCCn.410+20974C>T
n.2445G>A
c.1630G>A (p.Glu544Lys)
c.1775G>A (n.1775G>A)
c.949G>A (p.Glu317Lys)
c.1465G>A (p.Glu489Lys)
c.1174G>A (p.Glu392Lys)
c.2319+20974C>T (n.2319+20974C>T)
c.1009G>A (p.Glu337Lys)
9g.95101755T>ACA466092067AOPEP,FANCCn.410+20975T>A
n.2444A>T
c.1629A>T (p.Ser543=)
c.1774A>T (n.1774A>T)
c.948A>T (p.Ser316=)
c.1464A>T (p.Ser488=)
c.1173A>T (p.Ser391=)
c.2319+20975T>A (n.2319+20975T>A)
c.1008A>T (p.Ser336=)
9g.95101755T>CCA466092068AOPEP,FANCCn.410+20975T>C
n.2444A>G
c.1629A>G (p.Ser543=)
c.1774A>G (n.1774A>G)
c.948A>G (p.Ser316=)
c.1464A>G (p.Ser488=)
c.1173A>G (p.Ser391=)
c.2319+20975T>C (n.2319+20975T>C)
c.1008A>G (p.Ser336=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.95101755T>GCA466092069AOPEP,FANCCn.410+20975T>G
n.2444A>C
c.1629A>C (p.Ser543=)
c.1774A>C (n.1774A>C)
c.948A>C (p.Ser316=)
c.1464A>C (p.Ser488=)
c.1173A>C (p.Ser391=)
c.2319+20975T>G (n.2319+20975T>G)
c.1008A>C (p.Ser336=)
9g.95101755T=CA1865459524AOPEP,FANCCn.410+20975T=
n.2444A=
c.1629A= (p.Ser543=)
c.1774A= (n.1774A=)
c.948A= (p.Ser316=)
c.1464A= (p.Ser488=)
c.1173A= (p.Ser391=)
c.2319+20975T= (n.2319+20975T=)
c.1008A= (p.Ser336=)
9g.95101756G>ACA374104373AOPEP,FANCCn.410+20976G>A
n.2443C>T
c.1628C>T (p.Ser543Leu)
c.1773C>T (n.1773C>T)
c.947C>T (p.Ser316Leu)
c.1463C>T (p.Ser488Leu)
c.1172C>T (p.Ser391Leu)
c.2319+20976G>A (n.2319+20976G>A)
c.1007C>T (p.Ser336Leu)
 ClinVar
9g.95101756G>CCA374104375AOPEP,FANCCn.410+20976G>C
n.2443C>G
c.1628C>G (p.Ser543Ter)
c.1773C>G (n.1773C>G)
c.947C>G (p.Ser316Ter)
c.1463C>G (p.Ser488Ter)
c.1172C>G (p.Ser391Ter)
c.2319+20976G>C (n.2319+20976G>C)
c.1007C>G (p.Ser336Ter)
9g.95101756G=CA1865459526AOPEP,FANCCn.410+20976G=
n.2443C=
c.1628C= (p.Ser543=)
c.1773C= (n.1773C=)
c.947C= (p.Ser316=)
c.1463C= (p.Ser488=)
c.1172C= (p.Ser391=)
c.2319+20976G= (n.2319+20976G=)
c.1007C= (p.Ser336=)
9g.95101756G>TCA16041334AOPEP,FANCCn.410+20976G>T
n.2443C>A
c.1628C>A (p.Ser543Ter)
c.1773C>A (n.1773C>A)
c.947C>A (p.Ser316Ter)
c.1463C>A (p.Ser488Ter)
c.1172C>A (p.Ser391Ter)
c.2319+20976G>T (n.2319+20976G>T)
c.1007C>A (p.Ser336Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
9g.95101756_95101757delinsGACA1865459525AOPEP,FANCCn.410+20976_410+20977delinsGA
n.2442_2443delinsTC
c.1627_1628delinsTC (p.Ser543=)
c.1772_1773delinsTC (n.1772_1773delinsTC)
c.946_947delinsTC (p.Ser316=)
c.1462_1463delinsTC (p.Ser488=)
c.1171_1172delinsTC (p.Ser391=)
c.2319+20976_2319+20977delinsGA (n.2319+20976_2319+20977delinsGA)
c.1006_1007delinsTC (p.Ser336=)
9g.95101756_95101757delinsTTCA349363AOPEP,FANCCn.410+20976_410+20977delinsTT
n.2442_2443delinsAA
c.1627_1628delinsAA (p.Ser543Lys)
c.1772_1773delinsAA (n.1772_1773delinsAA)
c.946_947delinsAA (p.Ser316Lys)
c.1462_1463delinsAA (p.Ser488Lys)
c.1171_1172delinsAA (p.Ser391Lys)
c.2319+20976_2319+20977delinsTT (n.2319+20976_2319+20977delinsTT)
c.1006_1007delinsAA (p.Ser336Lys)
 ClinVar dbSNP
9g.95101757A=CA1865459527AOPEP,FANCCn.410+20977A=
n.2442T=
c.1627T= (p.Ser543=)
c.1772T= (n.1772T=)
c.946T= (p.Ser316=)
c.1462T= (p.Ser488=)
c.1171T= (p.Ser391=)
c.2319+20977A= (n.2319+20977A=)
c.1006T= (p.Ser336=)
9g.95101757A>CCA374104381AOPEP,FANCCn.410+20977A>C
n.2442T>G
c.1627T>G (p.Ser543Ala)
c.1772T>G (n.1772T>G)
c.946T>G (p.Ser316Ala)
c.1462T>G (p.Ser488Ala)
c.1171T>G (p.Ser391Ala)
c.2319+20977A>C (n.2319+20977A>C)
c.1006T>G (p.Ser336Ala)
9g.95101757A>GCA374104383AOPEP,FANCCn.410+20977A>G
n.2442T>C
c.1627T>C (p.Ser543Pro)
c.1772T>C (n.1772T>C)
c.946T>C (p.Ser316Pro)
c.1462T>C (p.Ser488Pro)
c.1171T>C (p.Ser391Pro)
c.2319+20977A>G (n.2319+20977A>G)
c.1006T>C (p.Ser336Pro)
 ClinVar dbSNP
9g.95101757A>TCA374104385AOPEP,FANCCn.410+20977A>T
n.2442T>A
c.1627T>A (p.Ser543Thr)
c.1772T>A (n.1772T>A)
c.946T>A (p.Ser316Thr)
c.1462T>A (p.Ser488Thr)
c.1171T>A (p.Ser391Thr)
c.2319+20977A>T (n.2319+20977A>T)
c.1006T>A (p.Ser336Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.95101758T>ACA374104388AOPEP,FANCCn.410+20978T>A
n.2441A>T
c.1626A>T (p.Arg542Ser)
c.1771A>T (n.1771A>T)
c.945A>T (p.Arg315Ser)
c.1461A>T (p.Arg487Ser)
c.1170A>T (p.Arg390Ser)
c.2319+20978T>A (n.2319+20978T>A)
c.1005A>T (p.Arg335Ser)
9g.95101758T>CCA466092070AOPEP,FANCCn.410+20978T>C
n.2441A>G
c.1626A>G (p.Arg542=)
c.1771A>G (n.1771A>G)
c.945A>G (p.Arg315=)
c.1461A>G (p.Arg487=)
c.1170A>G (p.Arg390=)
c.2319+20978T>C (n.2319+20978T>C)
c.1005A>G (p.Arg335=)
 ClinVar
9g.95101758T>GCA374104390AOPEP,FANCCn.410+20978T>G
n.2441A>C
c.1626A>C (p.Arg542Ser)
c.1771A>C (n.1771A>C)
c.945A>C (p.Arg315Ser)
c.1461A>C (p.Arg487Ser)
c.1170A>C (p.Arg390Ser)
c.2319+20978T>G (n.2319+20978T>G)
c.1005A>C (p.Arg335Ser)
9g.95101759C>ACA374104393AOPEP,FANCCn.410+20979C>A
n.2440G>T
c.1625G>T (p.Arg542Ile)
c.1770G>T (n.1770G>T)
c.944G>T (p.Arg315Ile)
c.1460G>T (p.Arg487Ile)
c.1169G>T (p.Arg390Ile)
c.2319+20979C>A (n.2319+20979C>A)
c.1004G>T (p.Arg335Ile)
9g.95101759C=CA1865459528AOPEP,FANCCn.410+20979C=
n.2440G=
c.1625G= (p.Arg542=)
c.1770G= (n.1770G=)
c.944G= (p.Arg315=)
c.1460G= (p.Arg487=)
c.1169G= (p.Arg390=)
c.2319+20979C= (n.2319+20979C=)
c.1004G= (p.Arg335=)
9g.95101759C>GCA374104395AOPEP,FANCCn.410+20979C>G
n.2440G>C
c.1625G>C (p.Arg542Thr)
c.1770G>C (n.1770G>C)
c.944G>C (p.Arg315Thr)
c.1460G>C (p.Arg487Thr)
c.1169G>C (p.Arg390Thr)
c.2319+20979C>G (n.2319+20979C>G)
c.1004G>C (p.Arg335Thr)
 dbSNP
9g.95101759C>TCA374104397AOPEP,FANCCn.410+20979C>T
n.2440G>A
c.1625G>A (p.Arg542Lys)
c.1770G>A (n.1770G>A)
c.944G>A (p.Arg315Lys)
c.1460G>A (p.Arg487Lys)
c.1169G>A (p.Arg390Lys)
c.2319+20979C>T (n.2319+20979C>T)
c.1004G>A (p.Arg335Lys)
 ClinVar dbSNP
9g.95101760T>ACA374104399AOPEP,FANCCn.410+20980T>A
n.2439A>T
c.1624A>T (p.Arg542Ter)
c.1769A>T (n.1769A>T)
c.943A>T (p.Arg315Ter)
c.1459A>T (p.Arg487Ter)
c.1168A>T (p.Arg390Ter)
c.2319+20980T>A (n.2319+20980T>A)
c.1003A>T (p.Arg335Ter)
9g.95101760T>CCA374104401AOPEP,FANCCn.410+20980T>C
n.2439A>G
c.1624A>G (p.Arg542Gly)
c.1769A>G (n.1769A>G)
c.943A>G (p.Arg315Gly)
c.1459A>G (p.Arg487Gly)
c.1168A>G (p.Arg390Gly)
c.2319+20980T>C (n.2319+20980T>C)
c.1003A>G (p.Arg335Gly)
 ClinVar gnomAD v4
9g.95101760T>GCA466092071AOPEP,FANCCn.410+20980T>G
n.2439A>C
c.1624A>C (p.Arg542=)
c.1769A>C (n.1769A>C)
c.943A>C (p.Arg315=)
c.1459A>C (p.Arg487=)
c.1168A>C (p.Arg390=)
c.2319+20980T>G (n.2319+20980T>G)
c.1003A>C (p.Arg335=)
 dbSNP gnomAD v2 gnomAD v4
9g.95101760T=CA1865459529AOPEP,FANCCn.410+20980T=
n.2439A=
c.1624A= (p.Arg542=)
c.1769A= (n.1769A=)
c.943A= (p.Arg315=)
c.1459A= (p.Arg487=)
c.1168A= (p.Arg390=)
c.2319+20980T= (n.2319+20980T=)
c.1003A= (p.Arg335=)
9g.95101761A=CA1865459530AOPEP,FANCCn.410+20981A=
n.2438T=
c.1623T= (p.Pro541=)
c.1768T= (n.1768T=)
c.942T= (p.Pro314=)
c.1458T= (p.Pro486=)
c.1167T= (p.Pro389=)
c.2319+20981A= (n.2319+20981A=)
c.1002T= (p.Pro334=)
9g.95101761A>CCA337181AOPEP,FANCCn.410+20981A>C
n.2438T>G
c.1623T>G (p.Pro541=)
c.1768T>G (n.1768T>G)
c.942T>G (p.Pro314=)
c.1458T>G (p.Pro486=)
c.1167T>G (p.Pro389=)
c.2319+20981A>C (n.2319+20981A>C)
c.1002T>G (p.Pro334=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101761A>GCA466092072AOPEP,FANCCn.410+20981A>G
n.2438T>C
c.1623T>C (p.Pro541=)
c.1768T>C (n.1768T>C)
c.942T>C (p.Pro314=)
c.1458T>C (p.Pro486=)
c.1167T>C (p.Pro389=)
c.2319+20981A>G (n.2319+20981A>G)
c.1002T>C (p.Pro334=)
 gnomAD v4
9g.95101761A>TCA466092073AOPEP,FANCCn.410+20981A>T
n.2438T>A
c.1623T>A (p.Pro541=)
c.1768T>A (n.1768T>A)
c.942T>A (p.Pro314=)
c.1458T>A (p.Pro486=)
c.1167T>A (p.Pro389=)
c.2319+20981A>T (n.2319+20981A>T)
c.1002T>A (p.Pro334=)
9g.95101761_95101762delinsAGCA1865459531AOPEP,FANCCn.410+20981_410+20982delinsAG
n.2437_2438delinsCT
c.1622_1623delinsCT (p.Pro541=)
c.1767_1768delinsCT (n.1767_1768delinsCT)
c.941_942delinsCT (p.Pro314=)
c.1457_1458delinsCT (p.Pro486=)
c.1166_1167delinsCT (p.Pro389=)
c.2319+20981_2319+20982delinsAG (n.2319+20981_2319+20982delinsAG)
c.1001_1002delinsCT (p.Pro334=)
9g.95101762G>ACA374104406AOPEP,FANCCn.410+20982G>A
n.2437C>T
c.1622C>T (p.Pro541Leu)
c.1767C>T (n.1767C>T)
c.941C>T (p.Pro314Leu)
c.1457C>T (p.Pro486Leu)
c.1166C>T (p.Pro389Leu)
c.2319+20982G>A (n.2319+20982G>A)
c.1001C>T (p.Pro334Leu)
 ClinVar dbSNP
9g.95101762G>CCA374104408AOPEP,FANCCn.410+20982G>C
n.2437C>G
c.1622C>G (p.Pro541Arg)
c.1767C>G (n.1767C>G)
c.941C>G (p.Pro314Arg)
c.1457C>G (p.Pro486Arg)
c.1166C>G (p.Pro389Arg)
c.2319+20982G>C (n.2319+20982G>C)
c.1001C>G (p.Pro334Arg)
9g.95101762G=CA1865459532AOPEP,FANCCn.410+20982G=
n.2437C=
c.1622C= (p.Pro541=)
c.1767C= (n.1767C=)
c.941C= (p.Pro314=)
c.1457C= (p.Pro486=)
c.1166C= (p.Pro389=)
c.2319+20982G= (n.2319+20982G=)
c.1001C= (p.Pro334=)
9g.95101762G>TCA374104411AOPEP,FANCCn.410+20982G>T
n.2437C>A
c.1622C>A (p.Pro541His)
c.1767C>A (n.1767C>A)
c.941C>A (p.Pro314His)
c.1457C>A (p.Pro486His)
c.1166C>A (p.Pro389His)
c.2319+20982G>T (n.2319+20982G>T)
c.1001C>A (p.Pro334His)
9g.95101764delCA196536701AOPEP,FANCCn.410+20984del
n.2437del
c.1622del (p.Pro541LeufsTer?)
c.1767del (n.1767del)
c.941del (p.Pro314LeufsTer?)
c.1457del (p.Pro486LeufsTer?)
c.1166del (p.Pro389LeufsTer?)
c.2319+20984del (n.2319+20984del)
c.1001del (p.Pro334LeufsTer?)
 dbSNP
9g.95101763G>ACA374104415AOPEP,FANCCn.410+20983G>A
n.2436C>T
c.1621C>T (p.Pro541Ser)
c.1766C>T (n.1766C>T)
c.940C>T (p.Pro314Ser)
c.1456C>T (p.Pro486Ser)
c.1165C>T (p.Pro389Ser)
c.2319+20983G>A (n.2319+20983G>A)
c.1000C>T (p.Pro334Ser)
 ClinVar dbSNP gnomAD v4
9g.95101763G>CCA374104417AOPEP,FANCCn.410+20983G>C
n.2436C>G
c.1621C>G (p.Pro541Ala)
c.1766C>G (n.1766C>G)
c.940C>G (p.Pro314Ala)
c.1456C>G (p.Pro486Ala)
c.1165C>G (p.Pro389Ala)
c.2319+20983G>C (n.2319+20983G>C)
c.1000C>G (p.Pro334Ala)
9g.95101763G=CA1865459533AOPEP,FANCCn.410+20983G=
n.2436C=
c.1621C= (p.Pro541=)
c.1766C= (n.1766C=)
c.940C= (p.Pro314=)
c.1456C= (p.Pro486=)
c.1165C= (p.Pro389=)
c.2319+20983G= (n.2319+20983G=)
c.1000C= (p.Pro334=)
9g.95101763G>TCA374104419AOPEP,FANCCn.410+20983G>T
n.2436C>A
c.1621C>A (p.Pro541Thr)
c.1766C>A (n.1766C>A)
c.940C>A (p.Pro314Thr)
c.1456C>A (p.Pro486Thr)
c.1165C>A (p.Pro389Thr)
c.2319+20983G>T (n.2319+20983G>T)
c.1000C>A (p.Pro334Thr)
9g.95101764G>ACA466092074AOPEP,FANCCn.410+20984G>A
n.2435C>T
c.1620C>T (p.Ser540=)
c.1765C>T (n.1765C>T)
c.939C>T (p.Ser313=)
c.1455C>T (p.Ser485=)
c.1164C>T (p.Ser388=)
c.2319+20984G>A (n.2319+20984G>A)
c.999C>T (p.Ser333=)
 ClinVar
9g.95101764G>CCA374104420AOPEP,FANCCn.410+20984G>C
n.2435C>G
c.1620C>G (p.Ser540Arg)
c.1765C>G (n.1765C>G)
c.939C>G (p.Ser313Arg)
c.1455C>G (p.Ser485Arg)
c.1164C>G (p.Ser388Arg)
c.2319+20984G>C (n.2319+20984G>C)
c.999C>G (p.Ser333Arg)
9g.95101764G>TCA374104423AOPEP,FANCCn.410+20984G>T
n.2435C>A
c.1620C>A (p.Ser540Arg)
c.1765C>A (n.1765C>A)
c.939C>A (p.Ser313Arg)
c.1455C>A (p.Ser485Arg)
c.1164C>A (p.Ser388Arg)
c.2319+20984G>T (n.2319+20984G>T)
c.999C>A (p.Ser333Arg)
9g.95101765C>ACA374104430AOPEP,FANCCn.410+20985C>A
n.2434G>T
c.1619G>T (p.Ser540Ile)
c.1764G>T (n.1764G>T)
c.938G>T (p.Ser313Ile)
c.1454G>T (p.Ser485Ile)
c.1163G>T (p.Ser388Ile)
c.2319+20985C>A (n.2319+20985C>A)
c.998G>T (p.Ser333Ile)
9g.95101765C>GCA374104432AOPEP,FANCCn.410+20985C>G
n.2434G>C
c.1619G>C (p.Ser540Thr)
c.1764G>C (n.1764G>C)
c.938G>C (p.Ser313Thr)
c.1454G>C (p.Ser485Thr)
c.1163G>C (p.Ser388Thr)
c.2319+20985C>G (n.2319+20985C>G)
c.998G>C (p.Ser333Thr)
9g.95101765C>TCA374104434AOPEP,FANCCn.410+20985C>T
n.2434G>A
c.1619G>A (p.Ser540Asn)
c.1764G>A (n.1764G>A)
c.938G>A (p.Ser313Asn)
c.1454G>A (p.Ser485Asn)
c.1163G>A (p.Ser388Asn)
c.2319+20985C>T (n.2319+20985C>T)
c.998G>A (p.Ser333Asn)
9g.95101765_95101766insGACA2690785721AOPEP,FANCCn.410+20985_410+20986insGA
n.2433_2434insTC
c.1618_1619insTC (p.Ser540IlefsTer?)
c.1763_1764insTC (n.1763_1764insTC)
c.937_938insTC (p.Ser313IlefsTer?)
c.1453_1454insTC (p.Ser485IlefsTer?)
c.1162_1163insTC (p.Ser388IlefsTer?)
c.2319+20985_2319+20986insGA (n.2319+20985_2319+20986insGA)
c.997_998insTC (p.Ser333IlefsTer?)
 gnomAD v4
9g.95101766T>ACA374104438AOPEP,FANCCn.410+20986T>A
n.2433A>T
c.1618A>T (p.Ser540Cys)
c.1763A>T (n.1763A>T)
c.937A>T (p.Ser313Cys)
c.1453A>T (p.Ser485Cys)
c.1162A>T (p.Ser388Cys)
c.2319+20986T>A (n.2319+20986T>A)
c.997A>T (p.Ser333Cys)
 gnomAD v4
9g.95101766T>CCA374104440AOPEP,FANCCn.410+20986T>C
n.2433A>G
c.1618A>G (p.Ser540Gly)
c.1763A>G (n.1763A>G)
c.937A>G (p.Ser313Gly)
c.1453A>G (p.Ser485Gly)
c.1162A>G (p.Ser388Gly)
c.2319+20986T>C (n.2319+20986T>C)
c.997A>G (p.Ser333Gly)
 ClinVar
9g.95101766T>GCA374104437AOPEP,FANCCn.410+20986T>G
n.2433A>C
c.1618A>C (p.Ser540Arg)
c.1763A>C (n.1763A>C)
c.937A>C (p.Ser313Arg)
c.1453A>C (p.Ser485Arg)
c.1162A>C (p.Ser388Arg)
c.2319+20986T>G (n.2319+20986T>G)
c.997A>C (p.Ser333Arg)
 ClinVar dbSNP gnomAD v4
9g.95101766T=CA1865459534AOPEP,FANCCn.410+20986T=
n.2433A=
c.1618A= (p.Ser540=)
c.1763A= (n.1763A=)
c.937A= (p.Ser313=)
c.1453A= (p.Ser485=)
c.1162A= (p.Ser388=)
c.2319+20986T= (n.2319+20986T=)
c.997A= (p.Ser333=)
9g.95101766delinsGAACA2573053199AOPEP,FANCCn.410+20986delinsGAA
n.2433delinsTTC
c.1618delinsTTC (p.Ser540PhefsTer?)
c.1763delinsTTC (n.1763delinsTTC)
c.937delinsTTC (p.Ser313PhefsTer?)
c.1453delinsTTC (p.Ser485PhefsTer?)
c.1162delinsTTC (p.Ser388PhefsTer?)
c.2319+20986delinsGAA (n.2319+20986delinsGAA)
c.997delinsTTC (p.Ser333PhefsTer?)
 ClinVar dbSNP
9g.95101767T>ACA374104442AOPEP,FANCCn.410+20987T>A
n.2432A>T
c.1617A>T (p.Glu539Asp)
c.1762A>T (n.1762A>T)
c.936A>T (p.Glu312Asp)
c.1452A>T (p.Glu484Asp)
c.1161A>T (p.Glu387Asp)
c.2319+20987T>A (n.2319+20987T>A)
c.996A>T (p.Glu332Asp)
9g.95101767T>CCA466092075AOPEP,FANCCn.410+20987T>C
n.2432A>G
c.1617A>G (p.Glu539=)
c.1762A>G (n.1762A>G)
c.936A>G (p.Glu312=)
c.1452A>G (p.Glu484=)
c.1161A>G (p.Glu387=)
c.2319+20987T>C (n.2319+20987T>C)
c.996A>G (p.Glu332=)
 dbSNP
9g.95101767T>GCA374104444AOPEP,FANCCn.410+20987T>G
n.2432A>C
c.1617A>C (p.Glu539Asp)
c.1762A>C (n.1762A>C)
c.936A>C (p.Glu312Asp)
c.1452A>C (p.Glu484Asp)
c.1161A>C (p.Glu387Asp)
c.2319+20987T>G (n.2319+20987T>G)
c.996A>C (p.Glu332Asp)
 COSMIC
9g.95101767T=CA1865459535AOPEP,FANCCn.410+20987T=
n.2432A=
c.1617A= (p.Glu539=)
c.1762A= (n.1762A=)
c.936A= (p.Glu312=)
c.1452A= (p.Glu484=)
c.1161A= (p.Glu387=)
c.2319+20987T= (n.2319+20987T=)
c.996A= (p.Glu332=)
9g.95101768T>ACA374104447AOPEP,FANCCn.410+20988T>A
n.2431A>T
c.1616A>T (p.Glu539Val)
c.1761A>T (n.1761A>T)
c.935A>T (p.Glu312Val)
c.1451A>T (p.Glu484Val)
c.1160A>T (p.Glu387Val)
c.2319+20988T>A (n.2319+20988T>A)
c.995A>T (p.Glu332Val)
 dbSNP
9g.95101768T>CCA374104449AOPEP,FANCCn.410+20988T>C
n.2431A>G
c.1616A>G (p.Glu539Gly)
c.1761A>G (n.1761A>G)
c.935A>G (p.Glu312Gly)
c.1451A>G (p.Glu484Gly)
c.1160A>G (p.Glu387Gly)
c.2319+20988T>C (n.2319+20988T>C)
c.995A>G (p.Glu332Gly)
9g.95101768T>GCA374104451AOPEP,FANCCn.410+20988T>G
n.2431A>C
c.1616A>C (p.Glu539Ala)
c.1761A>C (n.1761A>C)
c.935A>C (p.Glu312Ala)
c.1451A>C (p.Glu484Ala)
c.1160A>C (p.Glu387Ala)
c.2319+20988T>G (n.2319+20988T>G)
c.995A>C (p.Glu332Ala)
9g.95101769C>ACA374104454AOPEP,FANCCn.410+20989C>A
n.2430G>T
c.1615G>T (p.Glu539Ter)
c.1760G>T (n.1760G>T)
c.934G>T (p.Glu312Ter)
c.1450G>T (p.Glu484Ter)
c.1159G>T (p.Glu387Ter)
c.2319+20989C>A (n.2319+20989C>A)
c.994G>T (p.Glu332Ter)
9g.95101769C=CA1865459536AOPEP,FANCCn.410+20989C=
n.2430G=
c.1615G= (p.Glu539=)
c.1760G= (n.1760G=)
c.934G= (p.Glu312=)
c.1450G= (p.Glu484=)
c.1159G= (p.Glu387=)
c.2319+20989C= (n.2319+20989C=)
c.994G= (p.Glu332=)
9g.95101769C>GCA374104456AOPEP,FANCCn.410+20989C>G
n.2430G>C
c.1615G>C (p.Glu539Gln)
c.1760G>C (n.1760G>C)
c.934G>C (p.Glu312Gln)
c.1450G>C (p.Glu484Gln)
c.1159G>C (p.Glu387Gln)
c.2319+20989C>G (n.2319+20989C>G)
c.994G>C (p.Glu332Gln)
 dbSNP
9g.95101769C>TCA374104458AOPEP,FANCCn.410+20989C>T
n.2430G>A
c.1615G>A (p.Glu539Lys)
c.1760G>A (n.1760G>A)
c.934G>A (p.Glu312Lys)
c.1450G>A (p.Glu484Lys)
c.1159G>A (p.Glu387Lys)
c.2319+20989C>T (n.2319+20989C>T)
c.994G>A (p.Glu332Lys)
 ClinVar dbSNP gnomAD v4 COSMIC
9g.95101770A=CA1865459537AOPEP,FANCCn.410+20990A=
n.2429T=
c.1614T= (p.Ile538=)
c.1759T= (n.1759T=)
c.933T= (p.Ile311=)
c.1449T= (p.Ile483=)
c.1158T= (p.Ile386=)
c.2319+20990A= (n.2319+20990A=)
c.993T= (p.Ile331=)
9g.95101770A>CCA374104461AOPEP,FANCCn.410+20990A>C
n.2429T>G
c.1614T>G (p.Ile538Met)
c.1759T>G (n.1759T>G)
c.933T>G (p.Ile311Met)
c.1449T>G (p.Ile483Met)
c.1158T>G (p.Ile386Met)
c.2319+20990A>C (n.2319+20990A>C)
c.993T>G (p.Ile331Met)
 gnomAD v4
9g.95101770A>GCA196536710AOPEP,FANCCn.410+20990A>G
n.2429T>C
c.1614T>C (p.Ile538=)
c.1759T>C (n.1759T>C)
c.933T>C (p.Ile311=)
c.1449T>C (p.Ile483=)
c.1158T>C (p.Ile386=)
c.2319+20990A>G (n.2319+20990A>G)
c.993T>C (p.Ile331=)
 ClinVar dbSNP
9g.95101770A>TCA466092076AOPEP,FANCCn.410+20990A>T
n.2429T>A
c.1614T>A (p.Ile538=)
c.1759T>A (n.1759T>A)
c.933T>A (p.Ile311=)
c.1449T>A (p.Ile483=)
c.1158T>A (p.Ile386=)
c.2319+20990A>T (n.2319+20990A>T)
c.993T>A (p.Ile331=)
9g.95101771A=CA1865459538AOPEP,FANCCn.410+20991A=
n.2428T=
c.1613T= (p.Ile538=)
c.1758T= (n.1758T=)
c.932T= (p.Ile311=)
c.1448T= (p.Ile483=)
c.1157T= (p.Ile386=)
c.2319+20991A= (n.2319+20991A=)
c.992T= (p.Ile331=)
9g.95101771A>CCA374104464AOPEP,FANCCn.410+20991A>C
n.2428T>G
c.1613T>G (p.Ile538Ser)
c.1758T>G (n.1758T>G)
c.932T>G (p.Ile311Ser)
c.1448T>G (p.Ile483Ser)
c.1157T>G (p.Ile386Ser)
c.2319+20991A>C (n.2319+20991A>C)
c.992T>G (p.Ile331Ser)
9g.95101771A>GCA374104466AOPEP,FANCCn.410+20991A>G
n.2428T>C
c.1613T>C (p.Ile538Thr)
c.1758T>C (n.1758T>C)
c.932T>C (p.Ile311Thr)
c.1448T>C (p.Ile483Thr)
c.1157T>C (p.Ile386Thr)
c.2319+20991A>G (n.2319+20991A>G)
c.992T>C (p.Ile331Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.95101771A>TCA374104468AOPEP,FANCCn.410+20991A>T
n.2428T>A
c.1613T>A (p.Ile538Asn)
c.1758T>A (n.1758T>A)
c.932T>A (p.Ile311Asn)
c.1448T>A (p.Ile483Asn)
c.1157T>A (p.Ile386Asn)
c.2319+20991A>T (n.2319+20991A>T)
c.992T>A (p.Ile331Asn)
9g.95101772T>ACA374104476AOPEP,FANCCn.410+20992T>A
n.2427A>T
c.1612A>T (p.Ile538Phe)
c.1757A>T (n.1757A>T)
c.931A>T (p.Ile311Phe)
c.1447A>T (p.Ile483Phe)
c.1156A>T (p.Ile386Phe)
c.2319+20992T>A (n.2319+20992T>A)
c.991A>T (p.Ile331Phe)
9g.95101772T>CCA374104474AOPEP,FANCCn.410+20992T>C
n.2427A>G
c.1612A>G (p.Ile538Val)
c.1757A>G (n.1757A>G)
c.931A>G (p.Ile311Val)
c.1447A>G (p.Ile483Val)
c.1156A>G (p.Ile386Val)
c.2319+20992T>C (n.2319+20992T>C)
c.991A>G (p.Ile331Val)
 ClinVar
9g.95101772T>GCA374104471AOPEP,FANCCn.410+20992T>G
n.2427A>C
c.1612A>C (p.Ile538Leu)
c.1757A>C (n.1757A>C)
c.931A>C (p.Ile311Leu)
c.1447A>C (p.Ile483Leu)
c.1156A>C (p.Ile386Leu)
c.2319+20992T>G (n.2319+20992T>G)
c.991A>C (p.Ile331Leu)
9g.95101773G>ACA466092077AOPEP,FANCCn.410+20993G>A
n.2426C>T
c.1611C>T (p.Gly537=)
c.1756C>T (n.1756C>T)
c.930C>T (p.Gly310=)
c.1446C>T (p.Gly482=)
c.1155C>T (p.Gly385=)
c.2319+20993G>A (n.2319+20993G>A)
c.990C>T (p.Gly330=)
 dbSNP
9g.95101773G>CCA466092078AOPEP,FANCCn.410+20993G>C
n.2426C>G
c.1611C>G (p.Gly537=)
c.1756C>G (n.1756C>G)
c.930C>G (p.Gly310=)
c.1446C>G (p.Gly482=)
c.1155C>G (p.Gly385=)
c.2319+20993G>C (n.2319+20993G>C)
c.990C>G (p.Gly330=)
9g.95101773G=CA1865459539AOPEP,FANCCn.410+20993G=
n.2426C=
c.1611C= (p.Gly537=)
c.1756C= (n.1756C=)
c.930C= (p.Gly310=)
c.1446C= (p.Gly482=)
c.1155C= (p.Gly385=)
c.2319+20993G= (n.2319+20993G=)
c.990C= (p.Gly330=)
9g.95101773G>TCA196536712AOPEP,FANCCn.410+20993G>T
n.2426C>A
c.1611C>A (p.Gly537=)
c.1756C>A (n.1756C>A)
c.930C>A (p.Gly310=)
c.1446C>A (p.Gly482=)
c.1155C>A (p.Gly385=)
c.2319+20993G>T (n.2319+20993G>T)
c.990C>A (p.Gly330=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.95101774C>ACA5137291AOPEP,FANCCn.410+20994C>A
n.2425G>T
c.1610G>T (p.Gly537Val)
c.1755G>T (n.1755G>T)
c.929G>T (p.Gly310Val)
c.1445G>T (p.Gly482Val)
c.1154G>T (p.Gly385Val)
c.2319+20994C>A (n.2319+20994C>A)
c.989G>T (p.Gly330Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.95101774C=CA1865459540AOPEP,FANCCn.410+20994C=
n.2425G=
c.1610G= (p.Gly537=)
c.1755G= (n.1755G=)
c.929G= (p.Gly310=)
c.1445G= (p.Gly482=)
c.1154G= (p.Gly385=)
c.2319+20994C= (n.2319+20994C=)
c.989G= (p.Gly330=)
9g.95101774C>GCA374104481AOPEP,FANCCn.410+20994C>G
n.2425G>C
c.1610G>C (p.Gly537Ala)
c.1755G>C (n.1755G>C)
c.929G>C (p.Gly310Ala)
c.1445G>C (p.Gly482Ala)
c.1154G>C (p.Gly385Ala)
c.2319+20994C>G (n.2319+20994C>G)
c.989G>C (p.Gly330Ala)
9g.95101774C>TCA5137292AOPEP,FANCCn.410+20994C>T
n.2425G>A
c.1610G>A (p.Gly537Asp)
c.1755G>A (n.1755G>A)
c.929G>A (p.Gly310Asp)
c.1445G>A (p.Gly482Asp)
c.1154G>A (p.Gly385Asp)
c.2319+20994C>T (n.2319+20994C>T)
c.989G>A (p.Gly330Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.95101775C>ACA374104485AOPEP,FANCCn.410+20995C>A
n.2424G>T
c.1609G>T (p.Gly537Cys)
c.1754G>T (n.1754G>T)
c.928G>T (p.Gly310Cys)
c.1444G>T (p.Gly482Cys)
c.1153G>T (p.Gly385Cys)
c.2319+20995C>A (n.2319+20995C>A)
c.988G>T (p.Gly330Cys)
 ClinVar
9g.95101775C>GCA374104487AOPEP,FANCCn.410+20995C>G
n.2424G>C
c.1609G>C (p.Gly537Arg)
c.1754G>C (n.1754G>C)
c.928G>C (p.Gly310Arg)
c.1444G>C (p.Gly482Arg)
c.1153G>C (p.Gly385Arg)
c.2319+20995C>G (n.2319+20995C>G)
c.988G>C (p.Gly330Arg)
9g.95101775C>TCA374104489AOPEP,FANCCn.410+20995C>T
n.2424G>A
c.1609G>A (p.Gly537Ser)
c.1754G>A (n.1754G>A)
c.928G>A (p.Gly310Ser)
c.1444G>A (p.Gly482Ser)
c.1153G>A (p.Gly385Ser)
c.2319+20995C>T (n.2319+20995C>T)
c.988G>A (p.Gly330Ser)
9g.95101776A>CCA466092079AOPEP,FANCCn.410+20996A>C
n.2423T>G
c.1608T>G (p.Leu536=)
c.1753T>G (n.1753T>G)
c.927T>G (p.Leu309=)
c.1443T>G (p.Leu481=)
c.1152T>G (p.Leu384=)
c.2319+20996A>C (n.2319+20996A>C)
c.987T>G (p.Leu329=)
 ClinVar
9g.95101776A>GCA466092080AOPEP,FANCCn.410+20996A>G
n.2423T>C
c.1608T>C (p.Leu536=)
c.1753T>C (n.1753T>C)
c.927T>C (p.Leu309=)
c.1443T>C (p.Leu481=)
c.1152T>C (p.Leu384=)
c.2319+20996A>G (n.2319+20996A>G)
c.987T>C (p.Leu329=)
 ClinVar
9g.95101776A>TCA466092081AOPEP,FANCCn.410+20996A>T
n.2423T>A
c.1608T>A (p.Leu536=)
c.1753T>A (n.1753T>A)
c.927T>A (p.Leu309=)
c.1443T>A (p.Leu481=)
c.1152T>A (p.Leu384=)
c.2319+20996A>T (n.2319+20996A>T)
c.987T>A (p.Leu329=)
9g.95101777A=CA1865459541AOPEP,FANCCn.410+20997A=
n.2422T=
c.1607T= (p.Leu536=)
c.1752T= (n.1752T=)
c.926T= (p.Leu309=)
c.1442T= (p.Leu481=)
c.1151T= (p.Leu384=)
c.2319+20997A= (n.2319+20997A=)
c.986T= (p.Leu329=)
9g.95101777A>CCA374104492AOPEP,FANCCn.410+20997A>C
n.2422T>G
c.1607T>G (p.Leu536Arg)
c.1752T>G (n.1752T>G)
c.926T>G (p.Leu309Arg)
c.1442T>G (p.Leu481Arg)
c.1151T>G (p.Leu384Arg)
c.2319+20997A>C (n.2319+20997A>C)
c.986T>G (p.Leu329Arg)
9g.95101777A>GCA287199AOPEP,FANCCn.410+20997A>G
n.2422T>C
c.1607T>C (p.Leu536Pro)
c.1752T>C (n.1752T>C)
c.926T>C (p.Leu309Pro)
c.1442T>C (p.Leu481Pro)
c.1151T>C (p.Leu384Pro)
c.2319+20997A>G (n.2319+20997A>G)
c.986T>C (p.Leu329Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.95101777A>TCA374104495AOPEP,FANCCn.410+20997A>T
n.2422T>A
c.1607T>A (p.Leu536His)
c.1752T>A (n.1752T>A)
c.926T>A (p.Leu309His)
c.1442T>A (p.Leu481His)
c.1151T>A (p.Leu384His)
c.2319+20997A>T (n.2319+20997A>T)
c.986T>A (p.Leu329His)
9g.95101778G>ACA374104497AOPEP,FANCCn.410+20998G>A
n.2421C>T
c.1606C>T (p.Leu536Phe)
c.1751C>T (n.1751C>T)
c.925C>T (p.Leu309Phe)
c.1441C>T (p.Leu481Phe)
c.1150C>T (p.Leu384Phe)
c.2319+20998G>A (n.2319+20998G>A)
c.985C>T (p.Leu329Phe)
 dbSNP
9g.95101778G>CCA374104500AOPEP,FANCCn.410+20998G>C
n.2421C>G
c.1606C>G (p.Leu536Val)
c.1751C>G (n.1751C>G)
c.925C>G (p.Leu309Val)
c.1441C>G (p.Leu481Val)
c.1150C>G (p.Leu384Val)
c.2319+20998G>C (n.2319+20998G>C)
c.985C>G (p.Leu329Val)
 dbSNP
9g.95101778G>TCA374104502AOPEP,FANCCn.410+20998G>T
n.2421C>A
c.1606C>A (p.Leu536Ile)
c.1751C>A (n.1751C>A)
c.925C>A (p.Leu309Ile)
c.1441C>A (p.Leu481Ile)
c.1150C>A (p.Leu384Ile)
c.2319+20998G>T (n.2319+20998G>T)
c.985C>A (p.Leu329Ile)
9g.95101779A>CCA466092082AOPEP,FANCCn.410+20999A>C
n.2420T>G
c.1605T>G (p.Arg535=)
c.1750T>G (n.1750T>G)
c.924T>G (p.Arg308=)
c.1440T>G (p.Arg480=)
c.1149T>G (p.Arg383=)
c.2319+20999A>C (n.2319+20999A>C)
c.984T>G (p.Arg328=)
9g.95101779A>GCA466092083AOPEP,FANCCn.410+20999A>G
n.2420T>C
c.1605T>C (p.Arg535=)
c.1750T>C (n.1750T>C)
c.924T>C (p.Arg308=)
c.1440T>C (p.Arg480=)
c.1149T>C (p.Arg383=)
c.2319+20999A>G (n.2319+20999A>G)
c.984T>C (p.Arg328=)
9g.95101779A>TCA466092084AOPEP,FANCCn.410+20999A>T
n.2420T>A
c.1605T>A (p.Arg535=)
c.1750T>A (n.1750T>A)
c.924T>A (p.Arg308=)
c.1440T>A (p.Arg480=)
c.1149T>A (p.Arg383=)
c.2319+20999A>T (n.2319+20999A>T)
c.984T>A (p.Arg328=)
9g.95101780C>ACA374104506AOPEP,FANCCn.410+21000C>A
n.2419G>T
c.1604G>T (p.Arg535Leu)
c.1749G>T (n.1749G>T)
c.923G>T (p.Arg308Leu)
c.1439G>T (p.Arg480Leu)
c.1148G>T (p.Arg383Leu)
c.2319+21000C>A (n.2319+21000C>A)
c.983G>T (p.Arg328Leu)
9g.95101780C=CA1865459542AOPEP,FANCCn.410+21000C=
n.2419G=
c.1604G= (p.Arg535=)
c.1749G= (n.1749G=)
c.923G= (p.Arg308=)
c.1439G= (p.Arg480=)
c.1148G= (p.Arg383=)
c.2319+21000C= (n.2319+21000C=)
c.983G= (p.Arg328=)
9g.95101780C>GCA374104508AOPEP,FANCCn.410+21000C>G
n.2419G>C
c.1604G>C (p.Arg535Pro)
c.1749G>C (n.1749G>C)
c.923G>C (p.Arg308Pro)
c.1439G>C (p.Arg480Pro)
c.1148G>C (p.Arg383Pro)
c.2319+21000C>G (n.2319+21000C>G)
c.983G>C (p.Arg328Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.95101780C>TCA287196AOPEP,FANCCn.410+21000C>T
n.2419G>A
c.1604G>A (p.Arg535His)
c.1749G>A (n.1749G>A)
c.923G>A (p.Arg308His)
c.1439G>A (p.Arg480His)
c.1148G>A (p.Arg383His)
c.2319+21000C>T (n.2319+21000C>T)
c.983G>A (p.Arg328His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101781G>ACA349793AOPEP,FANCCn.410+21001G>A
n.2418C>T
c.1603C>T (p.Arg535Cys)
c.1748C>T (n.1748C>T)
c.922C>T (p.Arg308Cys)
c.1438C>T (p.Arg480Cys)
c.1147C>T (p.Arg383Cys)
c.2319+21001G>A (n.2319+21001G>A)
c.982C>T (p.Arg328Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.95101781G>CCA374104512AOPEP,FANCCn.410+21001G>C
n.2418C>G
c.1603C>G (p.Arg535Gly)
c.1748C>G (n.1748C>G)
c.922C>G (p.Arg308Gly)
c.1438C>G (p.Arg480Gly)
c.1147C>G (p.Arg383Gly)
c.2319+21001G>C (n.2319+21001G>C)
c.982C>G (p.Arg328Gly)
9g.95101781G=CA1865459543AOPEP,FANCCn.410+21001G=
n.2418C=
c.1603C= (p.Arg535=)
c.1748C= (n.1748C=)
c.922C= (p.Arg308=)
c.1438C= (p.Arg480=)
c.1147C= (p.Arg383=)
c.2319+21001G= (n.2319+21001G=)
c.982C= (p.Arg328=)
9g.95101781G>TCA374104514AOPEP,FANCCn.410+21001G>T
n.2418C>A
c.1603C>A (p.Arg535Ser)
c.1748C>A (n.1748C>A)
c.922C>A (p.Arg308Ser)
c.1438C>A (p.Arg480Ser)
c.1147C>A (p.Arg383Ser)
c.2319+21001G>T (n.2319+21001G>T)
c.982C>A (p.Arg328Ser)
9g.95101782A>CCA374104517AOPEP,FANCCn.410+21002A>C
n.2417T>G
c.1602T>G (p.Asn534Lys)
c.1747T>G (n.1747T>G)
c.921T>G (p.Asn307Lys)
c.1437T>G (p.Asn479Lys)
c.1146T>G (p.Asn382Lys)
c.2319+21002A>C (n.2319+21002A>C)
c.981T>G (p.Asn327Lys)
9g.95101782A>GCA466092085AOPEP,FANCCn.410+21002A>G
n.2417T>C
c.1602T>C (p.Asn534=)
c.1747T>C (n.1747T>C)
c.921T>C (p.Asn307=)
c.1437T>C (p.Asn479=)
c.1146T>C (p.Asn382=)
c.2319+21002A>G (n.2319+21002A>G)
c.981T>C (p.Asn327=)
 ClinVar gnomAD v4
9g.95101782A>TCA374104519AOPEP,FANCCn.410+21002A>T
n.2417T>A
c.1602T>A (p.Asn534Lys)
c.1747T>A (n.1747T>A)
c.921T>A (p.Asn307Lys)
c.1437T>A (p.Asn479Lys)
c.1146T>A (p.Asn382Lys)
c.2319+21002A>T (n.2319+21002A>T)
c.981T>A (p.Asn327Lys)
9g.95101783T>ACA374104525AOPEP,FANCCn.410+21003T>A
n.2416A>T
c.1601A>T (p.Asn534Ile)
c.1746A>T (n.1746A>T)
c.920A>T (p.Asn307Ile)
c.1436A>T (p.Asn479Ile)
c.1145A>T (p.Asn382Ile)
c.2319+21003T>A (n.2319+21003T>A)
c.980A>T (p.Asn327Ile)
9g.95101783T>CCA374104523AOPEP,FANCCn.410+21003T>C
n.2416A>G
c.1601A>G (p.Asn534Ser)
c.1746A>G (n.1746A>G)
c.920A>G (p.Asn307Ser)
c.1436A>G (p.Asn479Ser)
c.1145A>G (p.Asn382Ser)
c.2319+21003T>C (n.2319+21003T>C)
c.980A>G (p.Asn327Ser)
9g.95101783T>GCA374104521AOPEP,FANCCn.410+21003T>G
n.2416A>C
c.1601A>C (p.Asn534Thr)
c.1746A>C (n.1746A>C)
c.920A>C (p.Asn307Thr)
c.1436A>C (p.Asn479Thr)
c.1145A>C (p.Asn382Thr)
c.2319+21003T>G (n.2319+21003T>G)
c.980A>C (p.Asn327Thr)
9g.95101784T>ACA374104527AOPEP,FANCCn.410+21004T>A
n.2415A>T
c.1600A>T (p.Asn534Tyr)
c.1745A>T (n.1745A>T)
c.919A>T (p.Asn307Tyr)
c.1435A>T (p.Asn479Tyr)
c.1144A>T (p.Asn382Tyr)
c.2319+21004T>A (n.2319+21004T>A)
c.979A>T (p.Asn327Tyr)
9g.95101784T>CCA374104529AOPEP,FANCCn.410+21004T>C
n.2415A>G
c.1600A>G (p.Asn534Asp)
c.1745A>G (n.1745A>G)
c.919A>G (p.Asn307Asp)
c.1435A>G (p.Asn479Asp)
c.1144A>G (p.Asn382Asp)
c.2319+21004T>C (n.2319+21004T>C)
c.979A>G (p.Asn327Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.95101784T>GCA374104531AOPEP,FANCCn.410+21004T>G
n.2415A>C
c.1600A>C (p.Asn534His)
c.1745A>C (n.1745A>C)
c.919A>C (p.Asn307His)
c.1435A>C (p.Asn479His)
c.1144A>C (p.Asn382His)
c.2319+21004T>G (n.2319+21004T>G)
c.979A>C (p.Asn327His)
9g.95101784T=CA1865459544AOPEP,FANCCn.410+21004T=
n.2415A=
c.1600A= (p.Asn534=)
c.1745A= (n.1745A=)
c.919A= (p.Asn307=)
c.1435A= (p.Asn479=)
c.1144A= (p.Asn382=)
c.2319+21004T= (n.2319+21004T=)
c.979A= (p.Asn327=)
9g.95101785C>ACA374104533AOPEP,FANCCn.410+21005C>A
n.2414G>T
c.1599G>T (p.Trp533Cys)
c.1744G>T (n.1744G>T)
c.918G>T (p.Trp306Cys)
c.1434G>T (p.Trp478Cys)
c.1143G>T (p.Trp381Cys)
c.2319+21005C>A (n.2319+21005C>A)
c.978G>T (p.Trp326Cys)
 dbSNP
9g.95101785C=CA1865459545AOPEP,FANCCn.410+21005C=
n.2414G=
c.1599G= (p.Trp533=)
c.1744G= (n.1744G=)
c.918G= (p.Trp306=)
c.1434G= (p.Trp478=)
c.1143G= (p.Trp381=)
c.2319+21005C= (n.2319+21005C=)
c.978G= (p.Trp326=)
9g.95101785C>GCA374104535AOPEP,FANCCn.410+21005C>G
n.2414G>C
c.1599G>C (p.Trp533Cys)
c.1744G>C (n.1744G>C)
c.918G>C (p.Trp306Cys)
c.1434G>C (p.Trp478Cys)
c.1143G>C (p.Trp381Cys)
c.2319+21005C>G (n.2319+21005C>G)
c.978G>C (p.Trp326Cys)
9g.95101785C>TCA16041335AOPEP,FANCCn.410+21005C>T
n.2414G>A
c.1599G>A (p.Trp533Ter)
c.1744G>A (n.1744G>A)
c.918G>A (p.Trp306Ter)
c.1434G>A (p.Trp478Ter)
c.1143G>A (p.Trp381Ter)
c.2319+21005C>T (n.2319+21005C>T)
c.978G>A (p.Trp326Ter)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
9g.95101786C>ACA374104539AOPEP,FANCCn.410+21006C>A
n.2413G>T
c.1598G>T (p.Trp533Leu)
c.1743G>T (n.1743G>T)
c.917G>T (p.Trp306Leu)
c.1433G>T (p.Trp478Leu)
c.1142G>T (p.Trp381Leu)
c.2319+21006C>A (n.2319+21006C>A)
c.977G>T (p.Trp326Leu)
9g.95101786C=CA1865459546AOPEP,FANCCn.410+21006C=
n.2413G=
c.1598G= (p.Trp533=)
c.1743G= (n.1743G=)
c.917G= (p.Trp306=)
c.1433G= (p.Trp478=)
c.1142G= (p.Trp381=)
c.2319+21006C= (n.2319+21006C=)
c.977G= (p.Trp326=)
9g.95101786C>GCA374104543AOPEP,FANCCn.410+21006C>G
n.2413G>C
c.1598G>C (p.Trp533Ser)
c.1743G>C (n.1743G>C)
c.917G>C (p.Trp306Ser)
c.1433G>C (p.Trp478Ser)
c.1142G>C (p.Trp381Ser)
c.2319+21006C>G (n.2319+21006C>G)
c.977G>C (p.Trp326Ser)
9g.95101786C>TCA374104541AOPEP,FANCCn.410+21006C>T
n.2413G>A
c.1598G>A (p.Trp533Ter)
c.1743G>A (n.1743G>A)
c.917G>A (p.Trp306Ter)
c.1433G>A (p.Trp478Ter)
c.1142G>A (p.Trp381Ter)
c.2319+21006C>T (n.2319+21006C>T)
c.977G>A (p.Trp326Ter)
 dbSNP gnomAD v2 gnomAD v4
9g.95101786_95101787insTCCA1139661050AOPEP,FANCCn.410+21006_410+21007insTC
n.2413_2414insAG
c.1598_1599insAG (p.Trp533Ter)
c.1743_1744insAG (n.1743_1744insAG)
c.917_918insAG (p.Trp306Ter)
c.1433_1434insAG (p.Trp478Ter)
c.1142_1143insAG (p.Trp381Ter)
c.2319+21006_2319+21007insTC (n.2319+21006_2319+21007insTC)
c.977_978insAG (p.Trp326Ter)
 ClinVar dbSNP
9g.95101787A=CA1865459547AOPEP,FANCCn.410+21007A=
n.2412T=
c.1597T= (p.Trp533=)
c.1742T= (n.1742T=)
c.916T= (p.Trp306=)
c.1432T= (p.Trp478=)
c.1141T= (p.Trp381=)
c.2319+21007A= (n.2319+21007A=)
c.976T= (p.Trp326=)
9g.95101787A>CCA299200AOPEP,FANCCn.410+21007A>C
n.2412T>G
c.1597T>G (p.Trp533Gly)
c.1742T>G (n.1742T>G)
c.916T>G (p.Trp306Gly)
c.1432T>G (p.Trp478Gly)
c.1141T>G (p.Trp381Gly)
c.2319+21007A>C (n.2319+21007A>C)
c.976T>G (p.Trp326Gly)
 ClinVar dbSNP gnomAD v4
9g.95101787A>GCA374104547AOPEP,FANCCn.410+21007A>G
n.2412T>C
c.1597T>C (p.Trp533Arg)
c.1742T>C (n.1742T>C)
c.916T>C (p.Trp306Arg)
c.1432T>C (p.Trp478Arg)
c.1141T>C (p.Trp381Arg)
c.2319+21007A>G (n.2319+21007A>G)
c.976T>C (p.Trp326Arg)
9g.95101787A>TCA374104549AOPEP,FANCCn.410+21007A>T
n.2412T>A
c.1597T>A (p.Trp533Arg)
c.1742T>A (n.1742T>A)
c.916T>A (p.Trp306Arg)
c.1432T>A (p.Trp478Arg)
c.1141T>A (p.Trp381Arg)
c.2319+21007A>T (n.2319+21007A>T)
c.976T>A (p.Trp326Arg)
9g.95101788T>ACA374104552AOPEP,FANCCn.410+21008T>A
n.2411A>T
c.1596A>T (p.Arg532Ser)
c.1741A>T (n.1741A>T)
c.915A>T (p.Arg305Ser)
c.1431A>T (p.Arg477Ser)
c.1140A>T (p.Arg380Ser)
c.2319+21008T>A (n.2319+21008T>A)
c.975A>T (p.Arg325Ser)
9g.95101788T>CCA466092086AOPEP,FANCCn.410+21008T>C
n.2411A>G
c.1596A>G (p.Arg532=)
c.1741A>G (n.1741A>G)
c.915A>G (p.Arg305=)
c.1431A>G (p.Arg477=)
c.1140A>G (p.Arg380=)
c.2319+21008T>C (n.2319+21008T>C)
c.975A>G (p.Arg325=)
 ClinVar dbSNP
9g.95101788T>GCA374104554AOPEP,FANCCn.410+21008T>G
n.2411A>C
c.1596A>C (p.Arg532Ser)
c.1741A>C (n.1741A>C)
c.915A>C (p.Arg305Ser)
c.1431A>C (p.Arg477Ser)
c.1140A>C (p.Arg380Ser)
c.2319+21008T>G (n.2319+21008T>G)
c.975A>C (p.Arg325Ser)
9g.95101788T=CA1865459548AOPEP,FANCCn.410+21008T=
n.2411A=
c.1596A= (p.Arg532=)
c.1741A= (n.1741A=)
c.915A= (p.Arg305=)
c.1431A= (p.Arg477=)
c.1140A= (p.Arg380=)
c.2319+21008T= (n.2319+21008T=)
c.975A= (p.Arg325=)
9g.95101789C>ACA374104556AOPEP,FANCCn.410+21009C>A
n.2410G>T
c.1595G>T (p.Arg532Ile)
c.1740G>T (n.1740G>T)
c.914G>T (p.Arg305Ile)
c.1430G>T (p.Arg477Ile)
c.1139G>T (p.Arg380Ile)
c.2319+21009C>A (n.2319+21009C>A)
c.974G>T (p.Arg325Ile)
9g.95101789C=CA1865459549AOPEP,FANCCn.410+21009C=
n.2410G=
c.1595G= (p.Arg532=)
c.1740G= (n.1740G=)
c.914G= (p.Arg305=)
c.1430G= (p.Arg477=)
c.1139G= (p.Arg380=)
c.2319+21009C= (n.2319+21009C=)
c.974G= (p.Arg325=)
9g.95101789C>GCA374104559AOPEP,FANCCn.410+21009C>G
n.2410G>C
c.1595G>C (p.Arg532Thr)
c.1740G>C (n.1740G>C)
c.914G>C (p.Arg305Thr)
c.1430G>C (p.Arg477Thr)
c.1139G>C (p.Arg380Thr)
c.2319+21009C>G (n.2319+21009C>G)
c.974G>C (p.Arg325Thr)
 COSMIC
9g.95101789C>TCA339012AOPEP,FANCCn.410+21009C>T
n.2410G>A
c.1595G>A (p.Arg532Lys)
c.1740G>A (n.1740G>A)
c.914G>A (p.Arg305Lys)
c.1430G>A (p.Arg477Lys)
c.1139G>A (p.Arg380Lys)
c.2319+21009C>T (n.2319+21009C>T)
c.974G>A (p.Arg325Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101790T>ACA374104563AOPEP,FANCCn.410+21010T>A
n.2409A>T
c.1594A>T (p.Arg532Ter)
c.1739A>T (n.1739A>T)
c.913A>T (p.Arg305Ter)
c.1429A>T (p.Arg477Ter)
c.1138A>T (p.Arg380Ter)
c.2319+21010T>A (n.2319+21010T>A)
c.973A>T (p.Arg325Ter)
9g.95101790T>CCA5137293AOPEP,FANCCn.410+21010T>C
n.2409A>G
c.1594A>G (p.Arg532Gly)
c.1739A>G (n.1739A>G)
c.913A>G (p.Arg305Gly)
c.1429A>G (p.Arg477Gly)
c.1138A>G (p.Arg380Gly)
c.2319+21010T>C (n.2319+21010T>C)
c.973A>G (p.Arg325Gly)
 ClinVar dbSNP ExAC gnomAD v4
9g.95101790T>GCA348732AOPEP,FANCCn.410+21010T>G
n.2409A>C
c.1594A>C (p.Arg532=)
c.1739A>C (n.1739A>C)
c.913A>C (p.Arg305=)
c.1429A>C (p.Arg477=)
c.1138A>C (p.Arg380=)
c.2319+21010T>G (n.2319+21010T>G)
c.973A>C (p.Arg325=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101790T=CA1865459550AOPEP,FANCCn.410+21010T=
n.2409A=
c.1594A= (p.Arg532=)
c.1739A= (n.1739A=)
c.913A= (p.Arg305=)
c.1429A= (p.Arg477=)
c.1138A= (p.Arg380=)
c.2319+21010T= (n.2319+21010T=)
c.973A= (p.Arg325=)
9g.95101791G>ACA5137294AOPEP,FANCCn.410+21011G>A
n.2408C>T
c.1593C>T (p.Tyr531=)
c.1738C>T (n.1738C>T)
c.912C>T (p.Tyr304=)
c.1428C>T (p.Tyr476=)
c.1137C>T (p.Tyr379=)
c.2319+21011G>A (n.2319+21011G>A)
c.972C>T (p.Tyr324=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101791G>CCA374104572AOPEP,FANCCn.410+21011G>C
n.2408C>G
c.1593C>G (p.Tyr531Ter)
c.1738C>G (n.1738C>G)
c.912C>G (p.Tyr304Ter)
c.1428C>G (p.Tyr476Ter)
c.1137C>G (p.Tyr379Ter)
c.2319+21011G>C (n.2319+21011G>C)
c.972C>G (p.Tyr324Ter)
 gnomAD v4
9g.95101791G=CA1865459551AOPEP,FANCCn.410+21011G=
n.2408C=
c.1593C= (p.Tyr531=)
c.1738C= (n.1738C=)
c.912C= (p.Tyr304=)
c.1428C= (p.Tyr476=)
c.1137C= (p.Tyr379=)
c.2319+21011G= (n.2319+21011G=)
c.972C= (p.Tyr324=)
9g.95101791G>TCA374104569AOPEP,FANCCn.410+21011G>T
n.2408C>A
c.1593C>A (p.Tyr531Ter)
c.1738C>A (n.1738C>A)
c.912C>A (p.Tyr304Ter)
c.1428C>A (p.Tyr476Ter)
c.1137C>A (p.Tyr379Ter)
c.2319+21011G>T (n.2319+21011G>T)
c.972C>A (p.Tyr324Ter)
9g.95101792T>ACA374104575AOPEP,FANCCn.410+21012T>A
n.2407A>T
c.1592A>T (p.Tyr531Phe)
c.1737A>T (n.1737A>T)
c.911A>T (p.Tyr304Phe)
c.1427A>T (p.Tyr476Phe)
c.1136A>T (p.Tyr379Phe)
c.2319+21012T>A (n.2319+21012T>A)
c.971A>T (p.Tyr324Phe)
9g.95101792T>CCA374104577AOPEP,FANCCn.410+21012T>C
n.2407A>G
c.1592A>G (p.Tyr531Cys)
c.1737A>G (n.1737A>G)
c.911A>G (p.Tyr304Cys)
c.1427A>G (p.Tyr476Cys)
c.1136A>G (p.Tyr379Cys)
c.2319+21012T>C (n.2319+21012T>C)
c.971A>G (p.Tyr324Cys)
 dbSNP gnomAD v4
9g.95101792T>GCA374104579AOPEP,FANCCn.410+21012T>G
n.2407A>C
c.1592A>C (p.Tyr531Ser)
c.1737A>C (n.1737A>C)
c.911A>C (p.Tyr304Ser)
c.1427A>C (p.Tyr476Ser)
c.1136A>C (p.Tyr379Ser)
c.2319+21012T>G (n.2319+21012T>G)
c.971A>C (p.Tyr324Ser)
9g.95101792T=CA1865459552AOPEP,FANCCn.410+21012T=
n.2407A=
c.1592A= (p.Tyr531=)
c.1737A= (n.1737A=)
c.911A= (p.Tyr304=)
c.1427A= (p.Tyr476=)
c.1136A= (p.Tyr379=)
c.2319+21012T= (n.2319+21012T=)
c.971A= (p.Tyr324=)
9g.95101793A=CA1865459553AOPEP,FANCCn.410+21013A=
n.2406T=
c.1591T= (p.Tyr531=)
c.1736T= (n.1736T=)
c.910T= (p.Tyr304=)
c.1426T= (p.Tyr476=)
c.1135T= (p.Tyr379=)
c.2319+21013A= (n.2319+21013A=)
c.970T= (p.Tyr324=)
9g.95101793A>CCA374104582AOPEP,FANCCn.410+21013A>C
n.2406T>G
c.1591T>G (p.Tyr531Asp)
c.1736T>G (n.1736T>G)
c.910T>G (p.Tyr304Asp)
c.1426T>G (p.Tyr476Asp)
c.1135T>G (p.Tyr379Asp)
c.2319+21013A>C (n.2319+21013A>C)
c.970T>G (p.Tyr324Asp)
9g.95101793A>GCA374104583AOPEP,FANCCn.410+21013A>G
n.2406T>C
c.1591T>C (p.Tyr531His)
c.1736T>C (n.1736T>C)
c.910T>C (p.Tyr304His)
c.1426T>C (p.Tyr476His)
c.1135T>C (p.Tyr379His)
c.2319+21013A>G (n.2319+21013A>G)
c.970T>C (p.Tyr324His)
9g.95101793A>TCA374104586AOPEP,FANCCn.410+21013A>T
n.2406T>A
c.1591T>A (p.Tyr531Asn)
c.1736T>A (n.1736T>A)
c.910T>A (p.Tyr304Asn)
c.1426T>A (p.Tyr476Asn)
c.1135T>A (p.Tyr379Asn)
c.2319+21013A>T (n.2319+21013A>T)
c.970T>A (p.Tyr324Asn)
9g.95101793dupCA913160922AOPEP,FANCCn.410+21013dup
n.2406dup
c.1591dup (p.Tyr531LeufsTer9)
c.1736dup (n.1736dup)
c.910dup (p.Tyr304LeufsTer9)
c.1426dup (p.Tyr476LeufsTer9)
c.1135dup (p.Tyr379LeufsTer9)
c.2319+21013dup (n.2319+21013dup)
c.970dup (p.Tyr324LeufsTer9)
9g.95101794C>ACA374104590AOPEP,FANCCn.410+21014C>A
n.2405G>T
c.1590G>T (p.Leu530Phe)
c.1735G>T (n.1735G>T)
c.909G>T (p.Leu303Phe)
c.1425G>T (p.Leu475Phe)
c.1134G>T (p.Leu378Phe)
c.2319+21014C>A (n.2319+21014C>A)
c.969G>T (p.Leu323Phe)
9g.95101794C>GCA374104591AOPEP,FANCCn.410+21014C>G
n.2405G>C
c.1590G>C (p.Leu530Phe)
c.1735G>C (n.1735G>C)
c.909G>C (p.Leu303Phe)
c.1425G>C (p.Leu475Phe)
c.1134G>C (p.Leu378Phe)
c.2319+21014C>G (n.2319+21014C>G)
c.969G>C (p.Leu323Phe)
9g.95101794C>TCA466092087AOPEP,FANCCn.410+21014C>T
n.2405G>A
c.1590G>A (p.Leu530=)
c.1735G>A (n.1735G>A)
c.909G>A (p.Leu303=)
c.1425G>A (p.Leu475=)
c.1134G>A (p.Leu378=)
c.2319+21014C>T (n.2319+21014C>T)
c.969G>A (p.Leu323=)
9g.95101794_95101797dupCA658822329AOPEP,FANCCn.410+21014_410+21017dup
n.2402_2405dup
c.1587_1590dup (p.Tyr531LeufsTer10)
c.1732_1735dup (n.1732_1735dup)
c.906_909dup (p.Tyr304LeufsTer10)
c.1422_1425dup (p.Tyr476LeufsTer10)
c.1131_1134dup (p.Tyr379LeufsTer10)
c.2319+21014_2319+21017dup (n.2319+21014_2319+21017dup)
c.966_969dup (p.Tyr324LeufsTer10)
 ClinVar dbSNP
9g.95101795A=CA1865459554AOPEP,FANCCn.410+21015A=
n.2404T=
c.1589T= (p.Leu530=)
c.1734T= (n.1734T=)
c.908T= (p.Leu303=)
c.1424T= (p.Leu475=)
c.1133T= (p.Leu378=)
c.2319+21015A= (n.2319+21015A=)
c.968T= (p.Leu323=)
9g.95101795A>CCA374104594AOPEP,FANCCn.410+21015A>C
n.2404T>G
c.1589T>G (p.Leu530Trp)
c.1734T>G (n.1734T>G)
c.908T>G (p.Leu303Trp)
c.1424T>G (p.Leu475Trp)
c.1133T>G (p.Leu378Trp)
c.2319+21015A>C (n.2319+21015A>C)
c.968T>G (p.Leu323Trp)
9g.95101795A>GCA337625AOPEP,FANCCn.410+21015A>G
n.2404T>C
c.1589T>C (p.Leu530Ser)
c.1734T>C (n.1734T>C)
c.908T>C (p.Leu303Ser)
c.1424T>C (p.Leu475Ser)
c.1133T>C (p.Leu378Ser)
c.2319+21015A>G (n.2319+21015A>G)
c.968T>C (p.Leu323Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101795A>TCA374104599AOPEP,FANCCn.410+21015A>T
n.2404T>A
c.1589T>A (p.Leu530Ter)
c.1734T>A (n.1734T>A)
c.908T>A (p.Leu303Ter)
c.1424T>A (p.Leu475Ter)
c.1133T>A (p.Leu378Ter)
c.2319+21015A>T (n.2319+21015A>T)
c.968T>A (p.Leu323Ter)
9g.95101796A=CA1865459555AOPEP,FANCCn.410+21016A=
n.2403T=
c.1588T= (p.Leu530=)
c.1733T= (n.1733T=)
c.907T= (p.Leu303=)
c.1423T= (p.Leu475=)
c.1132T= (p.Leu378=)
c.2319+21016A= (n.2319+21016A=)
c.967T= (p.Leu323=)
9g.95101796A>CCA374104602AOPEP,FANCCn.410+21016A>C
n.2403T>G
c.1588T>G (p.Leu530Val)
c.1733T>G (n.1733T>G)
c.907T>G (p.Leu303Val)
c.1423T>G (p.Leu475Val)
c.1132T>G (p.Leu378Val)
c.2319+21016A>C (n.2319+21016A>C)
c.967T>G (p.Leu323Val)
9g.95101796A>GCA196536766AOPEP,FANCCn.410+21016A>G
n.2403T>C
c.1588T>C (p.Leu530=)
c.1733T>C (n.1733T>C)
c.907T>C (p.Leu303=)
c.1423T>C (p.Leu475=)
c.1132T>C (p.Leu378=)
c.2319+21016A>G (n.2319+21016A>G)
c.967T>C (p.Leu323=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.95101796A>TCA374104605AOPEP,FANCCn.410+21016A>T
n.2403T>A
c.1588T>A (p.Leu530Met)
c.1733T>A (n.1733T>A)
c.907T>A (p.Leu303Met)
c.1423T>A (p.Leu475Met)
c.1132T>A (p.Leu378Met)
c.2319+21016A>T (n.2319+21016A>T)
c.967T>A (p.Leu323Met)
9g.95101797G>ACA466092088AOPEP,FANCCn.410+21017G>A
n.2402C>T
c.1587C>T (p.Thr529=)
c.1732C>T (n.1732C>T)
c.906C>T (p.Thr302=)
c.1422C>T (p.Thr474=)
c.1131C>T (p.Thr377=)
c.2319+21017G>A (n.2319+21017G>A)
c.966C>T (p.Thr322=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.95101797G>CCA196536770AOPEP,FANCCn.410+21017G>C
n.2402C>G
c.1587C>G (p.Thr529=)
c.1732C>G (n.1732C>G)
c.906C>G (p.Thr302=)
c.1422C>G (p.Thr474=)
c.1131C>G (p.Thr377=)
c.2319+21017G>C (n.2319+21017G>C)
c.966C>G (p.Thr322=)
 ClinVar dbSNP gnomAD v4
9g.95101797G=CA1865459556AOPEP,FANCCn.410+21017G=
n.2402C=
c.1587C= (p.Thr529=)
c.1732C= (n.1732C=)
c.906C= (p.Thr302=)
c.1422C= (p.Thr474=)
c.1131C= (p.Thr377=)
c.2319+21017G= (n.2319+21017G=)
c.966C= (p.Thr322=)
9g.95101797G>TCA466092089AOPEP,FANCCn.410+21017G>T
n.2402C>A
c.1587C>A (p.Thr529=)
c.1732C>A (n.1732C>A)
c.906C>A (p.Thr302=)
c.1422C>A (p.Thr474=)
c.1131C>A (p.Thr377=)
c.2319+21017G>T (n.2319+21017G>T)
c.966C>A (p.Thr322=)
9g.95101798G>ACA374104607AOPEP,FANCCn.410+21018G>A
n.2401C>T
c.1586C>T (p.Thr529Ile)
c.1731C>T (n.1731C>T)
c.905C>T (p.Thr302Ile)
c.1421C>T (p.Thr474Ile)
c.1130C>T (p.Thr377Ile)
c.2319+21018G>A (n.2319+21018G>A)
c.965C>T (p.Thr322Ile)
9g.95101798G>CCA374104610AOPEP,FANCCn.410+21018G>C
n.2401C>G
c.1586C>G (p.Thr529Ser)
c.1731C>G (n.1731C>G)
c.905C>G (p.Thr302Ser)
c.1421C>G (p.Thr474Ser)
c.1130C>G (p.Thr377Ser)
c.2319+21018G>C (n.2319+21018G>C)
c.965C>G (p.Thr322Ser)
9g.95101798G>TCA374104612AOPEP,FANCCn.410+21018G>T
n.2401C>A
c.1586C>A (p.Thr529Asn)
c.1731C>A (n.1731C>A)
c.905C>A (p.Thr302Asn)
c.1421C>A (p.Thr474Asn)
c.1130C>A (p.Thr377Asn)
c.2319+21018G>T (n.2319+21018G>T)
c.965C>A (p.Thr322Asn)
 ClinVar gnomAD v4
9g.95101799T>ACA374104614AOPEP,FANCCn.410+21019T>A
n.2400A>T
c.1585A>T (p.Thr529Ser)
c.1730A>T (n.1730A>T)
c.904A>T (p.Thr302Ser)
c.1420A>T (p.Thr474Ser)
c.1129A>T (p.Thr377Ser)
c.2319+21019T>A (n.2319+21019T>A)
c.964A>T (p.Thr322Ser)
 ClinVar dbSNP
9g.95101799T>CCA374104616AOPEP,FANCCn.410+21019T>C
n.2400A>G
c.1585A>G (p.Thr529Ala)
c.1730A>G (n.1730A>G)
c.904A>G (p.Thr302Ala)
c.1420A>G (p.Thr474Ala)
c.1129A>G (p.Thr377Ala)
c.2319+21019T>C (n.2319+21019T>C)
c.964A>G (p.Thr322Ala)
9g.95101799T>GCA159396AOPEP,FANCCn.410+21019T>G
n.2400A>C
c.1585A>C (p.Thr529Pro)
c.1730A>C (n.1730A>C)
c.904A>C (p.Thr302Pro)
c.1420A>C (p.Thr474Pro)
c.1129A>C (p.Thr377Pro)
c.2319+21019T>G (n.2319+21019T>G)
c.964A>C (p.Thr322Pro)
 ClinVar dbSNP
9g.95101799T=CA1865459557AOPEP,FANCCn.410+21019T=
n.2400A=
c.1585A= (p.Thr529=)
c.1730A= (n.1730A=)
c.904A= (p.Thr302=)
c.1420A= (p.Thr474=)
c.1129A= (p.Thr377=)
c.2319+21019T= (n.2319+21019T=)
c.964A= (p.Thr322=)
9g.95101800C>ACA374104618AOPEP,FANCCn.410+21020C>A
n.2399G>T
c.1584G>T (p.Gln528His)
c.1729G>T (n.1729G>T)
c.903G>T (p.Gln301His)
c.1419G>T (p.Gln473His)
c.1128G>T (p.Gln376His)
c.2319+21020C>A (n.2319+21020C>A)
c.963G>T (p.Gln321His)
9g.95101800C>GCA374104619AOPEP,FANCCn.410+21020C>G
n.2399G>C
c.1584G>C (p.Gln528His)
c.1729G>C (n.1729G>C)
c.903G>C (p.Gln301His)
c.1419G>C (p.Gln473His)
c.1128G>C (p.Gln376His)
c.2319+21020C>G (n.2319+21020C>G)
c.963G>C (p.Gln321His)
9g.95101800C>TCA466092090AOPEP,FANCCn.410+21020C>T
n.2399G>A
c.1584G>A (p.Gln528=)
c.1729G>A (n.1729G>A)
c.903G>A (p.Gln301=)
c.1419G>A (p.Gln473=)
c.1128G>A (p.Gln376=)
c.2319+21020C>T (n.2319+21020C>T)
c.963G>A (p.Gln321=)
 ClinVar
9g.95101801T>ACA374104622AOPEP,FANCCn.410+21021T>A
n.2398A>T
c.1583A>T (p.Gln528Leu)
c.1728A>T (n.1728A>T)
c.902A>T (p.Gln301Leu)
c.1418A>T (p.Gln473Leu)
c.1127A>T (p.Gln376Leu)
c.2319+21021T>A (n.2319+21021T>A)
c.962A>T (p.Gln321Leu)
9g.95101801T>CCA374104624AOPEP,FANCCn.410+21021T>C
n.2398A>G
c.1583A>G (p.Gln528Arg)
c.1728A>G (n.1728A>G)
c.902A>G (p.Gln301Arg)
c.1418A>G (p.Gln473Arg)
c.1127A>G (p.Gln376Arg)
c.2319+21021T>C (n.2319+21021T>C)
c.962A>G (p.Gln321Arg)
9g.95101801T>GCA374104626AOPEP,FANCCn.410+21021T>G
n.2398A>C
c.1583A>C (p.Gln528Pro)
c.1728A>C (n.1728A>C)
c.902A>C (p.Gln301Pro)
c.1418A>C (p.Gln473Pro)
c.1127A>C (p.Gln376Pro)
c.2319+21021T>G (n.2319+21021T>G)
c.962A>C (p.Gln321Pro)
9g.95101802G>ACA374104629AOPEP,FANCCn.410+21022G>A
n.2397C>T
c.1582C>T (p.Gln528Ter)
c.1727C>T (n.1727C>T)
c.901C>T (p.Gln301Ter)
c.1417C>T (p.Gln473Ter)
c.1126C>T (p.Gln376Ter)
c.2319+21022G>A (n.2319+21022G>A)
c.961C>T (p.Gln321Ter)
 ClinVar
9g.95101802G>CCA374104631AOPEP,FANCCn.410+21022G>C
n.2397C>G
c.1582C>G (p.Gln528Glu)
c.1727C>G (n.1727C>G)
c.901C>G (p.Gln301Glu)
c.1417C>G (p.Gln473Glu)
c.1126C>G (p.Gln376Glu)
c.2319+21022G>C (n.2319+21022G>C)
c.961C>G (p.Gln321Glu)
9g.95101802G>TCA374104633AOPEP,FANCCn.410+21022G>T
n.2397C>A
c.1582C>A (p.Gln528Lys)
c.1727C>A (n.1727C>A)
c.901C>A (p.Gln301Lys)
c.1417C>A (p.Gln473Lys)
c.1126C>A (p.Gln376Lys)
c.2319+21022G>T (n.2319+21022G>T)
c.961C>A (p.Gln321Lys)
9g.95101803G>ACA466092091AOPEP,FANCCn.410+21023G>A
n.2396C>T
c.1581C>T (p.Asp527=)
c.1726C>T (n.1726C>T)
c.900C>T (p.Asp300=)
c.1416C>T (p.Asp472=)
c.1125C>T (p.Asp375=)
c.2319+21023G>A (n.2319+21023G>A)
c.960C>T (p.Asp320=)
9g.95101803G>CCA374104635AOPEP,FANCCn.410+21023G>C
n.2396C>G
c.1581C>G (p.Asp527Glu)
c.1726C>G (n.1726C>G)
c.900C>G (p.Asp300Glu)
c.1416C>G (p.Asp472Glu)
c.1125C>G (p.Asp375Glu)
c.2319+21023G>C (n.2319+21023G>C)
c.960C>G (p.Asp320Glu)
9g.95101803G>TCA374104637AOPEP,FANCCn.410+21023G>T
n.2396C>A
c.1581C>A (p.Asp527Glu)
c.1726C>A (n.1726C>A)
c.900C>A (p.Asp300Glu)
c.1416C>A (p.Asp472Glu)
c.1125C>A (p.Asp375Glu)
c.2319+21023G>T (n.2319+21023G>T)
c.960C>A (p.Asp320Glu)
9g.95101804T>ACA374104640AOPEP,FANCCn.410+21024T>A
n.2395A>T
c.1580A>T (p.Asp527Val)
c.1725A>T (n.1725A>T)
c.899A>T (p.Asp300Val)
c.1415A>T (p.Asp472Val)
c.1124A>T (p.Asp375Val)
c.2319+21024T>A (n.2319+21024T>A)
c.959A>T (p.Asp320Val)
 dbSNP
9g.95101804T>CCA374104642AOPEP,FANCCn.410+21024T>C
n.2395A>G
c.1580A>G (p.Asp527Gly)
c.1725A>G (n.1725A>G)
c.899A>G (p.Asp300Gly)
c.1415A>G (p.Asp472Gly)
c.1124A>G (p.Asp375Gly)
c.2319+21024T>C (n.2319+21024T>C)
c.959A>G (p.Asp320Gly)
9g.95101804T>GCA374104644AOPEP,FANCCn.410+21024T>G
n.2395A>C
c.1580A>C (p.Asp527Ala)
c.1725A>C (n.1725A>C)
c.899A>C (p.Asp300Ala)
c.1415A>C (p.Asp472Ala)
c.1124A>C (p.Asp375Ala)
c.2319+21024T>G (n.2319+21024T>G)
c.959A>C (p.Asp320Ala)
9g.95101805C>ACA374104647AOPEP,FANCCn.410+21025C>A
n.2394G>T
c.1579G>T (p.Asp527Tyr)
c.1724G>T (n.1724G>T)
c.898G>T (p.Asp300Tyr)
c.1414G>T (p.Asp472Tyr)
c.1123G>T (p.Asp375Tyr)
c.2319+21025C>A (n.2319+21025C>A)
c.958G>T (p.Asp320Tyr)
 gnomAD v4
9g.95101805C>GCA374104652AOPEP,FANCCn.410+21025C>G
n.2394G>C
c.1579G>C (p.Asp527His)
c.1724G>C (n.1724G>C)
c.898G>C (p.Asp300His)
c.1414G>C (p.Asp472His)
c.1123G>C (p.Asp375His)
c.2319+21025C>G (n.2319+21025C>G)
c.958G>C (p.Asp320His)
9g.95101805C>TCA374104649AOPEP,FANCCn.410+21025C>T
n.2394G>A
c.1579G>A (p.Asp527Asn)
c.1724G>A (n.1724G>A)
c.898G>A (p.Asp300Asn)
c.1414G>A (p.Asp472Asn)
c.1123G>A (p.Asp375Asn)
c.2319+21025C>T (n.2319+21025C>T)
c.958G>A (p.Asp320Asn)
 gnomAD v4
9g.95101806A=CA1865459558AOPEP,FANCCn.410+21026A=
n.2393T=
c.1578T= (p.Leu526=)
c.1723T= (n.1723T=)
c.897T= (p.Leu299=)
c.1413T= (p.Leu471=)
c.1122T= (p.Leu374=)
c.2319+21026A= (n.2319+21026A=)
c.957T= (p.Leu319=)
9g.95101806A>CCA466092094AOPEP,FANCCn.410+21026A>C
n.2393T>G
c.1578T>G (p.Leu526=)
c.1723T>G (n.1723T>G)
c.897T>G (p.Leu299=)
c.1413T>G (p.Leu471=)
c.1122T>G (p.Leu374=)
c.2319+21026A>C (n.2319+21026A>C)
c.957T>G (p.Leu319=)
 ClinVar dbSNP
9g.95101806A>GCA466092093AOPEP,FANCCn.410+21026A>G
n.2393T>C
c.1578T>C (p.Leu526=)
c.1723T>C (n.1723T>C)
c.897T>C (p.Leu299=)
c.1413T>C (p.Leu471=)
c.1122T>C (p.Leu374=)
c.2319+21026A>G (n.2319+21026A>G)
c.957T>C (p.Leu319=)
9g.95101806A>TCA466092092AOPEP,FANCCn.410+21026A>T
n.2393T>A
c.1578T>A (p.Leu526=)
c.1723T>A (n.1723T>A)
c.897T>A (p.Leu299=)
c.1413T>A (p.Leu471=)
c.1122T>A (p.Leu374=)
c.2319+21026A>T (n.2319+21026A>T)
c.957T>A (p.Leu319=)
 ClinVar gnomAD v4
9g.95101807A>CCA374104655AOPEP,FANCCn.410+21027A>C
n.2392T>G
c.1577T>G (p.Leu526Arg)
c.1722T>G (n.1722T>G)
c.896T>G (p.Leu299Arg)
c.1412T>G (p.Leu471Arg)
c.1121T>G (p.Leu374Arg)
c.2319+21027A>C (n.2319+21027A>C)
c.956T>G (p.Leu319Arg)
9g.95101807A>GCA374104657AOPEP,FANCCn.410+21027A>G
n.2392T>C
c.1577T>C (p.Leu526Pro)
c.1722T>C (n.1722T>C)
c.896T>C (p.Leu299Pro)
c.1412T>C (p.Leu471Pro)
c.1121T>C (p.Leu374Pro)
c.2319+21027A>G (n.2319+21027A>G)
c.956T>C (p.Leu319Pro)
 gnomAD v4
9g.95101807A>TCA374104659AOPEP,FANCCn.410+21027A>T
n.2392T>A
c.1577T>A (p.Leu526His)
c.1722T>A (n.1722T>A)
c.896T>A (p.Leu299His)
c.1412T>A (p.Leu471His)
c.1121T>A (p.Leu374His)
c.2319+21027A>T (n.2319+21027A>T)
c.956T>A (p.Leu319His)
9g.95101808G>ACA374104662AOPEP,FANCCn.410+21028G>A
n.2391C>T
c.1576C>T (p.Leu526Phe)
c.1721C>T (n.1721C>T)
c.895C>T (p.Leu299Phe)
c.1411C>T (p.Leu471Phe)
c.1120C>T (p.Leu374Phe)
c.2319+21028G>A (n.2319+21028G>A)
c.955C>T (p.Leu319Phe)
9g.95101808G>CCA374104664AOPEP,FANCCn.410+21028G>C
n.2391C>G
c.1576C>G (p.Leu526Val)
c.1721C>G (n.1721C>G)
c.895C>G (p.Leu299Val)
c.1411C>G (p.Leu471Val)
c.1120C>G (p.Leu374Val)
c.2319+21028G>C (n.2319+21028G>C)
c.955C>G (p.Leu319Val)
9g.95101808G>TCA374104666AOPEP,FANCCn.410+21028G>T
n.2391C>A
c.1576C>A (p.Leu526Ile)
c.1721C>A (n.1721C>A)
c.895C>A (p.Leu299Ile)
c.1411C>A (p.Leu471Ile)
c.1120C>A (p.Leu374Ile)
c.2319+21028G>T (n.2319+21028G>T)
c.955C>A (p.Leu319Ile)
9g.95101809A=CA1865459559AOPEP,FANCCn.410+21029A=
n.2390T=
c.1575T= (p.Phe525=)
c.1720T= (n.1720T=)
c.894T= (p.Phe298=)
c.1410T= (p.Phe470=)
c.1119T= (p.Phe373=)
c.2319+21029A= (n.2319+21029A=)
c.954T= (p.Phe318=)
9g.95101809A>CCA287193AOPEP,FANCCn.410+21029A>C
n.2390T>G
c.1575T>G (p.Phe525Leu)
c.1720T>G (n.1720T>G)
c.894T>G (p.Phe298Leu)
c.1410T>G (p.Phe470Leu)
c.1119T>G (p.Phe373Leu)
c.2319+21029A>C (n.2319+21029A>C)
c.954T>G (p.Phe318Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101809A>GCA466092095AOPEP,FANCCn.410+21029A>G
n.2390T>C
c.1575T>C (p.Phe525=)
c.1720T>C (n.1720T>C)
c.894T>C (p.Phe298=)
c.1410T>C (p.Phe470=)
c.1119T>C (p.Phe373=)
c.2319+21029A>G (n.2319+21029A>G)
c.954T>C (p.Phe318=)
 gnomAD v4
9g.95101809A>TCA374104669AOPEP,FANCCn.410+21029A>T
n.2390T>A
c.1575T>A (p.Phe525Leu)
c.1720T>A (n.1720T>A)
c.894T>A (p.Phe298Leu)
c.1410T>A (p.Phe470Leu)
c.1119T>A (p.Phe373Leu)
c.2319+21029A>T (n.2319+21029A>T)
c.954T>A (p.Phe318Leu)
9g.95101810A>CCA374104671AOPEP,FANCCn.410+21030A>C
n.2389T>G
c.1574T>G (p.Phe525Cys)
c.1719T>G (n.1719T>G)
c.893T>G (p.Phe298Cys)
c.1409T>G (p.Phe470Cys)
c.1118T>G (p.Phe373Cys)
c.2319+21030A>C (n.2319+21030A>C)
c.953T>G (p.Phe318Cys)
9g.95101810A>GCA374104674AOPEP,FANCCn.410+21030A>G
n.2389T>C
c.1574T>C (p.Phe525Ser)
c.1719T>C (n.1719T>C)
c.893T>C (p.Phe298Ser)
c.1409T>C (p.Phe470Ser)
c.1118T>C (p.Phe373Ser)
c.2319+21030A>G (n.2319+21030A>G)
c.953T>C (p.Phe318Ser)
9g.95101810A>TCA374104675AOPEP,FANCCn.410+21030A>T
n.2389T>A
c.1574T>A (p.Phe525Tyr)
c.1719T>A (n.1719T>A)
c.893T>A (p.Phe298Tyr)
c.1409T>A (p.Phe470Tyr)
c.1118T>A (p.Phe373Tyr)
c.2319+21030A>T (n.2319+21030A>T)
c.953T>A (p.Phe318Tyr)
9g.95101811A=CA1865459560AOPEP,FANCCn.410+21031A=
n.2388T=
c.1573T= (p.Phe525=)
c.1718T= (n.1718T=)
c.892T= (p.Phe298=)
c.1408T= (p.Phe470=)
c.1117T= (p.Phe373=)
c.2319+21031A= (n.2319+21031A=)
c.952T= (p.Phe318=)
9g.95101811A>CCA374104678AOPEP,FANCCn.410+21031A>C
n.2388T>G
c.1573T>G (p.Phe525Val)
c.1718T>G (n.1718T>G)
c.892T>G (p.Phe298Val)
c.1408T>G (p.Phe470Val)
c.1117T>G (p.Phe373Val)
c.2319+21031A>C (n.2319+21031A>C)
c.952T>G (p.Phe318Val)
 dbSNP
9g.95101811A>GCA196536797AOPEP,FANCCn.410+21031A>G
n.2388T>C
c.1573T>C (p.Phe525Leu)
c.1718T>C (n.1718T>C)
c.892T>C (p.Phe298Leu)
c.1408T>C (p.Phe470Leu)
c.1117T>C (p.Phe373Leu)
c.2319+21031A>G (n.2319+21031A>G)
c.952T>C (p.Phe318Leu)
 ClinVar dbSNP gnomAD v4
9g.95101811A>TCA374104681AOPEP,FANCCn.410+21031A>T
n.2388T>A
c.1573T>A (p.Phe525Ile)
c.1718T>A (n.1718T>A)
c.892T>A (p.Phe298Ile)
c.1408T>A (p.Phe470Ile)
c.1117T>A (p.Phe373Ile)
c.2319+21031A>T (n.2319+21031A>T)
c.952T>A (p.Phe318Ile)
9g.95101812G>ACA466092096AOPEP,FANCCn.410+21032G>A
n.2387C>T
c.1572C>T (p.Gly524=)
c.1717C>T (n.1717C>T)
c.891C>T (p.Gly297=)
c.1407C>T (p.Gly469=)
c.1116C>T (p.Gly372=)
c.2319+21032G>A (n.2319+21032G>A)
c.951C>T (p.Gly317=)
 ClinVar dbSNP
9g.95101812G>CCA466092097AOPEP,FANCCn.410+21032G>C
n.2387C>G
c.1572C>G (p.Gly524=)
c.1717C>G (n.1717C>G)
c.891C>G (p.Gly297=)
c.1407C>G (p.Gly469=)
c.1116C>G (p.Gly372=)
c.2319+21032G>C (n.2319+21032G>C)
c.951C>G (p.Gly317=)
9g.95101812G>TCA466092098AOPEP,FANCCn.410+21032G>T
n.2387C>A
c.1572C>A (p.Gly524=)
c.1717C>A (n.1717C>A)
c.891C>A (p.Gly297=)
c.1407C>A (p.Gly469=)
c.1116C>A (p.Gly372=)
c.2319+21032G>T (n.2319+21032G>T)
c.951C>A (p.Gly317=)
 ClinVar
9g.95101813C>ACA374104685AOPEP,FANCCn.410+21033C>A
n.2386G>T
c.1571G>T (p.Gly524Val)
c.1716G>T (n.1716G>T)
c.890G>T (p.Gly297Val)
c.1406G>T (p.Gly469Val)
c.1115G>T (p.Gly372Val)
c.2319+21033C>A (n.2319+21033C>A)
c.950G>T (p.Gly317Val)
 dbSNP
9g.95101813C=CA1865459561AOPEP,FANCCn.410+21033C=
n.2386G=
c.1571G= (p.Gly524=)
c.1716G= (n.1716G=)
c.890G= (p.Gly297=)
c.1406G= (p.Gly469=)
c.1115G= (p.Gly372=)
c.2319+21033C= (n.2319+21033C=)
c.950G= (p.Gly317=)
9g.95101813C>GCA374104689AOPEP,FANCCn.410+21033C>G
n.2386G>C
c.1571G>C (p.Gly524Ala)
c.1716G>C (n.1716G>C)
c.890G>C (p.Gly297Ala)
c.1406G>C (p.Gly469Ala)
c.1115G>C (p.Gly372Ala)
c.2319+21033C>G (n.2319+21033C>G)
c.950G>C (p.Gly317Ala)
9g.95101813C>TCA374104687AOPEP,FANCCn.410+21033C>T
n.2386G>A
c.1571G>A (p.Gly524Asp)
c.1716G>A (n.1716G>A)
c.890G>A (p.Gly297Asp)
c.1406G>A (p.Gly469Asp)
c.1115G>A (p.Gly372Asp)
c.2319+21033C>T (n.2319+21033C>T)
c.950G>A (p.Gly317Asp)
 dbSNP gnomAD v2 gnomAD v4
9g.95101814C>ACA374104691AOPEP,FANCCn.410+21034C>A
n.2385G>T
c.1570G>T (p.Gly524Cys)
c.1715G>T (n.1715G>T)
c.889G>T (p.Gly297Cys)
c.1405G>T (p.Gly469Cys)
c.1114G>T (p.Gly372Cys)
c.2319+21034C>A (n.2319+21034C>A)
c.949G>T (p.Gly317Cys)
9g.95101814C=CA1865459562AOPEP,FANCCn.410+21034C=
n.2385G=
c.1570G= (p.Gly524=)
c.1715G= (n.1715G=)
c.889G= (p.Gly297=)
c.1405G= (p.Gly469=)
c.1114G= (p.Gly372=)
c.2319+21034C= (n.2319+21034C=)
c.949G= (p.Gly317=)
9g.95101814C>GCA374104694AOPEP,FANCCn.410+21034C>G
n.2385G>C
c.1570G>C (p.Gly524Arg)
c.1715G>C (n.1715G>C)
c.889G>C (p.Gly297Arg)
c.1405G>C (p.Gly469Arg)
c.1114G>C (p.Gly372Arg)
c.2319+21034C>G (n.2319+21034C>G)
c.949G>C (p.Gly317Arg)
9g.95101814C>TCA5137295AOPEP,FANCCn.410+21034C>T
n.2385G>A
c.1570G>A (p.Gly524Ser)
c.1715G>A (n.1715G>A)
c.889G>A (p.Gly297Ser)
c.1405G>A (p.Gly469Ser)
c.1114G>A (p.Gly372Ser)
c.2319+21034C>T (n.2319+21034C>T)
c.949G>A (p.Gly317Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.95101815A>CCA374104696AOPEP,FANCCn.410+21035A>C
n.2384T>G
c.1569T>G (p.Ile523Met)
c.1714T>G (n.1714T>G)
c.888T>G (p.Ile296Met)
c.1404T>G (p.Ile468Met)
c.1113T>G (p.Ile371Met)
c.2319+21035A>C (n.2319+21035A>C)
c.948T>G (p.Ile316Met)
9g.95101815A>GCA466092099AOPEP,FANCCn.410+21035A>G
n.2384T>C
c.1569T>C (p.Ile523=)
c.1714T>C (n.1714T>C)
c.888T>C (p.Ile296=)
c.1404T>C (p.Ile468=)
c.1113T>C (p.Ile371=)
c.2319+21035A>G (n.2319+21035A>G)
c.948T>C (p.Ile316=)
9g.95101815A>TCA466092100AOPEP,FANCCn.410+21035A>T
n.2384T>A
c.1569T>A (p.Ile523=)
c.1714T>A (n.1714T>A)
c.888T>A (p.Ile296=)
c.1404T>A (p.Ile468=)
c.1113T>A (p.Ile371=)
c.2319+21035A>T (n.2319+21035A>T)
c.948T>A (p.Ile316=)
9g.95101816A=CA1865459563AOPEP,FANCCn.410+21036A=
n.2383T=
c.1568T= (p.Ile523=)
c.1713T= (n.1713T=)
c.887T= (p.Ile296=)
c.1403T= (p.Ile468=)
c.1112T= (p.Ile371=)
c.2319+21036A= (n.2319+21036A=)
c.947T= (p.Ile316=)
9g.95101816A>CCA374104699AOPEP,FANCCn.410+21036A>C
n.2383T>G
c.1568T>G (p.Ile523Ser)
c.1713T>G (n.1713T>G)
c.887T>G (p.Ile296Ser)
c.1403T>G (p.Ile468Ser)
c.1112T>G (p.Ile371Ser)
c.2319+21036A>C (n.2319+21036A>C)
c.947T>G (p.Ile316Ser)
9g.95101816A>GCA374104701AOPEP,FANCCn.410+21036A>G
n.2383T>C
c.1568T>C (p.Ile523Thr)
c.1713T>C (n.1713T>C)
c.887T>C (p.Ile296Thr)
c.1403T>C (p.Ile468Thr)
c.1112T>C (p.Ile371Thr)
c.2319+21036A>G (n.2319+21036A>G)
c.947T>C (p.Ile316Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.95101816A>TCA374104703AOPEP,FANCCn.410+21036A>T
n.2383T>A
c.1568T>A (p.Ile523Asn)
c.1713T>A (n.1713T>A)
c.887T>A (p.Ile296Asn)
c.1403T>A (p.Ile468Asn)
c.1112T>A (p.Ile371Asn)
c.2319+21036A>T (n.2319+21036A>T)
c.947T>A (p.Ile316Asn)
9g.95101817T>ACA374104706AOPEP,FANCCn.410+21037T>A
n.2382A>T
c.1567A>T (p.Ile523Phe)
c.1712A>T (n.1712A>T)
c.886A>T (p.Ile296Phe)
c.1402A>T (p.Ile468Phe)
c.1111A>T (p.Ile371Phe)
c.2319+21037T>A (n.2319+21037T>A)
c.946A>T (p.Ile316Phe)
9g.95101817T>CCA374104708AOPEP,FANCCn.410+21037T>C
n.2382A>G
c.1567A>G (p.Ile523Val)
c.1712A>G (n.1712A>G)
c.886A>G (p.Ile296Val)
c.1402A>G (p.Ile468Val)
c.1111A>G (p.Ile371Val)
c.2319+21037T>C (n.2319+21037T>C)
c.946A>G (p.Ile316Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.95101817T>GCA374104709AOPEP,FANCCn.410+21037T>G
n.2382A>C
c.1567A>C (p.Ile523Leu)
c.1712A>C (n.1712A>C)
c.886A>C (p.Ile296Leu)
c.1402A>C (p.Ile468Leu)
c.1111A>C (p.Ile371Leu)
c.2319+21037T>G (n.2319+21037T>G)
c.946A>C (p.Ile316Leu)
9g.95101817T=CA1865459564AOPEP,FANCCn.410+21037T=
n.2382A=
c.1567A= (p.Ile523=)
c.1712A= (n.1712A=)
c.886A= (p.Ile296=)
c.1402A= (p.Ile468=)
c.1111A= (p.Ile371=)
c.2319+21037T= (n.2319+21037T=)
c.946A= (p.Ile316=)
9g.95101818G>ACA466092103AOPEP,FANCCn.410+21038G>A
n.2381C>T
c.1566C>T (p.Ile522=)
c.1711C>T (n.1711C>T)
c.885C>T (p.Ile295=)
c.1401C>T (p.Ile467=)
c.1110C>T (p.Ile370=)
c.2319+21038G>A (n.2319+21038G>A)
c.945C>T (p.Ile315=)
 ClinVar gnomAD v4
9g.95101818G>CCA374104712AOPEP,FANCCn.410+21038G>C
n.2381C>G
c.1566C>G (p.Ile522Met)
c.1711C>G (n.1711C>G)
c.885C>G (p.Ile295Met)
c.1401C>G (p.Ile467Met)
c.1110C>G (p.Ile370Met)
c.2319+21038G>C (n.2319+21038G>C)
c.945C>G (p.Ile315Met)
 ClinVar
9g.95101818G>TCA466092104AOPEP,FANCCn.410+21038G>T
n.2381C>A
c.1566C>A (p.Ile522=)
c.1711C>A (n.1711C>A)
c.885C>A (p.Ile295=)
c.1401C>A (p.Ile467=)
c.1110C>A (p.Ile370=)
c.2319+21038G>T (n.2319+21038G>T)
c.945C>A (p.Ile315=)
 COSMIC
9g.95101819A>CCA374104715AOPEP,FANCCn.410+21039A>C
n.2380T>G
c.1565T>G (p.Ile522Ser)
c.1710T>G (n.1710T>G)
c.884T>G (p.Ile295Ser)
c.1400T>G (p.Ile467Ser)
c.1109T>G (p.Ile370Ser)
c.2319+21039A>C (n.2319+21039A>C)
c.944T>G (p.Ile315Ser)
9g.95101819A>GCA374104719AOPEP,FANCCn.410+21039A>G
n.2380T>C
c.1565T>C (p.Ile522Thr)
c.1710T>C (n.1710T>C)
c.884T>C (p.Ile295Thr)
c.1400T>C (p.Ile467Thr)
c.1109T>C (p.Ile370Thr)
c.2319+21039A>G (n.2319+21039A>G)
c.944T>C (p.Ile315Thr)
 ClinVar
9g.95101819A>TCA374104717AOPEP,FANCCn.410+21039A>T
n.2380T>A
c.1565T>A (p.Ile522Asn)
c.1710T>A (n.1710T>A)
c.884T>A (p.Ile295Asn)
c.1400T>A (p.Ile467Asn)
c.1109T>A (p.Ile370Asn)
c.2319+21039A>T (n.2319+21039A>T)
c.944T>A (p.Ile315Asn)
9g.95101820T>ACA374104722AOPEP,FANCCn.410+21040T>A
n.2379A>T
c.1564A>T (p.Ile522Phe)
c.1709A>T (n.1709A>T)
c.883A>T (p.Ile295Phe)
c.1399A>T (p.Ile467Phe)
c.1108A>T (p.Ile370Phe)
c.2319+21040T>A (n.2319+21040T>A)
c.943A>T (p.Ile315Phe)
9g.95101820T>CCA374104724AOPEP,FANCCn.410+21040T>C
n.2379A>G
c.1564A>G (p.Ile522Val)
c.1709A>G (n.1709A>G)
c.883A>G (p.Ile295Val)
c.1399A>G (p.Ile467Val)
c.1108A>G (p.Ile370Val)
c.2319+21040T>C (n.2319+21040T>C)
c.943A>G (p.Ile315Val)
9g.95101820T>GCA374104723AOPEP,FANCCn.410+21040T>G
n.2379A>C
c.1564A>C (p.Ile522Leu)
c.1709A>C (n.1709A>C)
c.883A>C (p.Ile295Leu)
c.1399A>C (p.Ile467Leu)
c.1108A>C (p.Ile370Leu)
c.2319+21040T>G (n.2319+21040T>G)
c.943A>C (p.Ile315Leu)
9g.95101821C>ACA374104728AOPEP,FANCCn.410+21041C>A
n.2378G>T
c.1563G>T (p.Glu521Asp)
c.1708G>T (n.1708G>T)
c.882G>T (p.Glu294Asp)
c.1398G>T (p.Glu466Asp)
c.1107G>T (p.Glu369Asp)
c.2319+21041C>A (n.2319+21041C>A)
c.942G>T (p.Glu314Asp)
9g.95101821C=CA1865459565AOPEP,FANCCn.410+21041C=
n.2378G=
c.1563G= (p.Glu521=)
c.1708G= (n.1708G=)
c.882G= (p.Glu294=)
c.1398G= (p.Glu466=)
c.1107G= (p.Glu369=)
c.2319+21041C= (n.2319+21041C=)
c.942G= (p.Glu314=)
9g.95101821C>GCA374104729AOPEP,FANCCn.410+21041C>G
n.2378G>C
c.1563G>C (p.Glu521Asp)
c.1708G>C (n.1708G>C)
c.882G>C (p.Glu294Asp)
c.1398G>C (p.Glu466Asp)
c.1107G>C (p.Glu369Asp)
c.2319+21041C>G (n.2319+21041C>G)
c.942G>C (p.Glu314Asp)
 ClinVar dbSNP
9g.95101821C>TCA466092106AOPEP,FANCCn.410+21041C>T
n.2378G>A
c.1563G>A (p.Glu521=)
c.1708G>A (n.1708G>A)
c.882G>A (p.Glu294=)
c.1398G>A (p.Glu466=)
c.1107G>A (p.Glu369=)
c.2319+21041C>T (n.2319+21041C>T)
c.942G>A (p.Glu314=)
 ClinVar
9g.95101821dupCA2739269361AOPEP,FANCCn.410+21041dup
n.2378dup
c.1563dup (p.Ile522AspfsTer6)
c.1708dup (n.1708dup)
c.882dup (p.Ile295AspfsTer6)
c.1398dup (p.Ile467AspfsTer6)
c.1107dup (p.Ile370AspfsTer6)
c.2319+21041dup (n.2319+21041dup)
c.942dup (p.Ile315AspfsTer6)
 ClinVar
9g.95101822T>ACA374104732AOPEP,FANCCn.410+21042T>A
n.2377A>T
c.1562A>T (p.Glu521Val)
c.1707A>T (n.1707A>T)
c.881A>T (p.Glu294Val)
c.1397A>T (p.Glu466Val)
c.1106A>T (p.Glu369Val)
c.2319+21042T>A (n.2319+21042T>A)
c.941A>T (p.Glu314Val)
9g.95101822T>CCA374104734AOPEP,FANCCn.410+21042T>C
n.2377A>G
c.1562A>G (p.Glu521Gly)
c.1707A>G (n.1707A>G)
c.881A>G (p.Glu294Gly)
c.1397A>G (p.Glu466Gly)
c.1106A>G (p.Glu369Gly)
c.2319+21042T>C (n.2319+21042T>C)
c.941A>G (p.Glu314Gly)
9g.95101822T>GCA5137296AOPEP,FANCCn.410+21042T>G
n.2377A>C
c.1562A>C (p.Glu521Ala)
c.1707A>C (n.1707A>C)
c.881A>C (p.Glu294Ala)
c.1397A>C (p.Glu466Ala)
c.1106A>C (p.Glu369Ala)
c.2319+21042T>G (n.2319+21042T>G)
c.941A>C (p.Glu314Ala)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
9g.95101822T=CA1865459566AOPEP,FANCCn.410+21042T=
n.2377A=
c.1562A= (p.Glu521=)
c.1707A= (n.1707A=)
c.881A= (p.Glu294=)
c.1397A= (p.Glu466=)
c.1106A= (p.Glu369=)
c.2319+21042T= (n.2319+21042T=)
c.941A= (p.Glu314=)
9g.95101823C>ACA374104738AOPEP,FANCCn.410+21043C>A
n.2376G>T
c.1561G>T (p.Glu521Ter)
c.1706G>T (n.1706G>T)
c.880G>T (p.Glu294Ter)
c.1396G>T (p.Glu466Ter)
c.1105G>T (p.Glu369Ter)
c.2319+21043C>A (n.2319+21043C>A)
c.940G>T (p.Glu314Ter)
9g.95101823C=CA1865459567AOPEP,FANCCn.410+21043C=
n.2376G=
c.1561G= (p.Glu521=)
c.1706G= (n.1706G=)
c.880G= (p.Glu294=)
c.1396G= (p.Glu466=)
c.1105G= (p.Glu369=)
c.2319+21043C= (n.2319+21043C=)
c.940G= (p.Glu314=)
9g.95101823C>GCA374104741AOPEP,FANCCn.410+21043C>G
n.2376G>C
c.1561G>C (p.Glu521Gln)
c.1706G>C (n.1706G>C)
c.880G>C (p.Glu294Gln)
c.1396G>C (p.Glu466Gln)
c.1105G>C (p.Glu369Gln)
c.2319+21043C>G (n.2319+21043C>G)
c.940G>C (p.Glu314Gln)
9g.95101823C>TCA5137297AOPEP,FANCCn.410+21043C>T
n.2376G>A
c.1561G>A (p.Glu521Lys)
c.1706G>A (n.1706G>A)
c.880G>A (p.Glu294Lys)
c.1396G>A (p.Glu466Lys)
c.1105G>A (p.Glu369Lys)
c.2319+21043C>T (n.2319+21043C>T)
c.940G>A (p.Glu314Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101824G>ACA5137298AOPEP,FANCCn.410+21044G>A
n.2375C>T
c.1560C>T (p.His520=)
c.1705C>T (n.1705C>T)
c.879C>T (p.His293=)
c.1395C>T (p.His465=)
c.1104C>T (p.His368=)
c.2319+21044G>A (n.2319+21044G>A)
c.939C>T (p.His313=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101824G>CCA374104747AOPEP,FANCCn.410+21044G>C
n.2375C>G
c.1560C>G (p.His520Gln)
c.1705C>G (n.1705C>G)
c.879C>G (p.His293Gln)
c.1395C>G (p.His465Gln)
c.1104C>G (p.His368Gln)
c.2319+21044G>C (n.2319+21044G>C)
c.939C>G (p.His313Gln)
 ClinVar dbSNP
9g.95101824G=CA1865459568AOPEP,FANCCn.410+21044G=
n.2375C=
c.1560C= (p.His520=)
c.1705C= (n.1705C=)
c.879C= (p.His293=)
c.1395C= (p.His465=)
c.1104C= (p.His368=)
c.2319+21044G= (n.2319+21044G=)
c.939C= (p.His313=)
9g.95101824G>TCA374104749AOPEP,FANCCn.410+21044G>T
n.2375C>A
c.1560C>A (p.His520Gln)
c.1705C>A (n.1705C>A)
c.879C>A (p.His293Gln)
c.1395C>A (p.His465Gln)
c.1104C>A (p.His368Gln)
c.2319+21044G>T (n.2319+21044G>T)
c.939C>A (p.His313Gln)
9g.95101825T>ACA374104757AOPEP,FANCCn.410+21045T>A
n.2374A>T
c.1559A>T (p.His520Leu)
c.1704A>T (n.1704A>T)
c.878A>T (p.His293Leu)
c.1394A>T (p.His465Leu)
c.1103A>T (p.His368Leu)
c.2319+21045T>A (n.2319+21045T>A)
c.938A>T (p.His313Leu)
9g.95101825T>CCA374104753AOPEP,FANCCn.410+21045T>C
n.2374A>G
c.1559A>G (p.His520Arg)
c.1704A>G (n.1704A>G)
c.878A>G (p.His293Arg)
c.1394A>G (p.His465Arg)
c.1103A>G (p.His368Arg)
c.2319+21045T>C (n.2319+21045T>C)
c.938A>G (p.His313Arg)
9g.95101825T>GCA374104755AOPEP,FANCCn.410+21045T>G
n.2374A>C
c.1559A>C (p.His520Pro)
c.1704A>C (n.1704A>C)
c.878A>C (p.His293Pro)
c.1394A>C (p.His465Pro)
c.1103A>C (p.His368Pro)
c.2319+21045T>G (n.2319+21045T>G)
c.938A>C (p.His313Pro)
9g.95101826G>ACA374104758AOPEP,FANCCn.410+21046G>A
n.2373C>T
c.1558C>T (p.His520Tyr)
c.1703C>T (n.1703C>T)
c.877C>T (p.His293Tyr)
c.1393C>T (p.His465Tyr)
c.1102C>T (p.His368Tyr)
c.2319+21046G>A (n.2319+21046G>A)
c.937C>T (p.His313Tyr)
9g.95101826G>CCA374104760AOPEP,FANCCn.410+21046G>C
n.2373C>G
c.1558C>G (p.His520Asp)
c.1703C>G (n.1703C>G)
c.877C>G (p.His293Asp)
c.1393C>G (p.His465Asp)
c.1102C>G (p.His368Asp)
c.2319+21046G>C (n.2319+21046G>C)
c.937C>G (p.His313Asp)
9g.95101826G>TCA374104762AOPEP,FANCCn.410+21046G>T
n.2373C>A
c.1558C>A (p.His520Asn)
c.1703C>A (n.1703C>A)
c.877C>A (p.His293Asn)
c.1393C>A (p.His465Asn)
c.1102C>A (p.His368Asn)
c.2319+21046G>T (n.2319+21046G>T)
c.937C>A (p.His313Asn)
9g.95101827A=CA1865459569AOPEP,FANCCn.410+21047A=
n.2372T=
c.1557T= (p.Thr519=)
c.1702T= (n.1702T=)
c.876T= (p.Thr292=)
c.1392T= (p.Thr464=)
c.1101T= (p.Thr367=)
c.2319+21047A= (n.2319+21047A=)
c.936T= (p.Thr312=)
9g.95101827A>CCA466092112AOPEP,FANCCn.410+21047A>C
n.2372T>G
c.1557T>G (p.Thr519=)
c.1702T>G (n.1702T>G)
c.876T>G (p.Thr292=)
c.1392T>G (p.Thr464=)
c.1101T>G (p.Thr367=)
c.2319+21047A>C (n.2319+21047A>C)
c.936T>G (p.Thr312=)
 gnomAD v4
9g.95101827A>GCA466092111AOPEP,FANCCn.410+21047A>G
n.2372T>C
c.1557T>C (p.Thr519=)
c.1702T>C (n.1702T>C)
c.876T>C (p.Thr292=)
c.1392T>C (p.Thr464=)
c.1101T>C (p.Thr367=)
c.2319+21047A>G (n.2319+21047A>G)
c.936T>C (p.Thr312=)
9g.95101827A>TCA466092110AOPEP,FANCCn.410+21047A>T
n.2372T>A
c.1557T>A (p.Thr519=)
c.1702T>A (n.1702T>A)
c.876T>A (p.Thr292=)
c.1392T>A (p.Thr464=)
c.1101T>A (p.Thr367=)
c.2319+21047A>T (n.2319+21047A>T)
c.936T>A (p.Thr312=)
 dbSNP gnomAD v2 gnomAD v4
9g.95101828G>ACA374104765AOPEP,FANCCn.410+21048G>A
n.2371C>T
c.1556C>T (p.Thr519Ile)
c.1701C>T (n.1701C>T)
c.875C>T (p.Thr292Ile)
c.1391C>T (p.Thr464Ile)
c.1100C>T (p.Thr367Ile)
c.2319+21048G>A (n.2319+21048G>A)
c.935C>T (p.Thr312Ile)
9g.95101828G>CCA374104769AOPEP,FANCCn.410+21048G>C
n.2371C>G
c.1556C>G (p.Thr519Ser)
c.1701C>G (n.1701C>G)
c.875C>G (p.Thr292Ser)
c.1391C>G (p.Thr464Ser)
c.1100C>G (p.Thr367Ser)
c.2319+21048G>C (n.2319+21048G>C)
c.935C>G (p.Thr312Ser)
9g.95101828G=CA1865459570AOPEP,FANCCn.410+21048G=
n.2371C=
c.1556C= (p.Thr519=)
c.1701C= (n.1701C=)
c.875C= (p.Thr292=)
c.1391C= (p.Thr464=)
c.1100C= (p.Thr367=)
c.2319+21048G= (n.2319+21048G=)
c.935C= (p.Thr312=)
9g.95101828G>TCA374104771AOPEP,FANCCn.410+21048G>T
n.2371C>A
c.1556C>A (p.Thr519Asn)
c.1701C>A (n.1701C>A)
c.875C>A (p.Thr292Asn)
c.1391C>A (p.Thr464Asn)
c.1100C>A (p.Thr367Asn)
c.2319+21048G>T (n.2319+21048G>T)
c.935C>A (p.Thr312Asn)
9g.95101829T>ACA374104775AOPEP,FANCCn.410+21049T>A
n.2370A>T
c.1555A>T (p.Thr519Ser)
c.1700A>T (n.1700A>T)
c.874A>T (p.Thr292Ser)
c.1390A>T (p.Thr464Ser)
c.1099A>T (p.Thr367Ser)
c.2319+21049T>A (n.2319+21049T>A)
c.934A>T (p.Thr312Ser)
9g.95101829T>CCA374104777AOPEP,FANCCn.410+21049T>C
n.2370A>G
c.1555A>G (p.Thr519Ala)
c.1700A>G (n.1700A>G)
c.874A>G (p.Thr292Ala)
c.1390A>G (p.Thr464Ala)
c.1099A>G (p.Thr367Ala)
c.2319+21049T>C (n.2319+21049T>C)
c.934A>G (p.Thr312Ala)
9g.95101829T>GCA374104778AOPEP,FANCCn.410+21049T>G
n.2370A>C
c.1555A>C (p.Thr519Pro)
c.1700A>C (n.1700A>C)
c.874A>C (p.Thr292Pro)
c.1390A>C (p.Thr464Pro)
c.1099A>C (p.Thr367Pro)
c.2319+21049T>G (n.2319+21049T>G)
c.934A>C (p.Thr312Pro)
9g.95101830dupCA256206AOPEP,FANCCn.410+21050dup
n.2370dup
c.1555dup (p.Thr519AsnfsTer9)
c.1700dup (n.1700dup)
c.874dup (p.Thr292AsnfsTer9)
c.1390dup (p.Thr464AsnfsTer9)
c.1099dup (p.Thr367AsnfsTer9)
c.2319+21050dup (n.2319+21050dup)
c.934dup (p.Thr312AsnfsTer9)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.95101830T>ACA466092114AOPEP,FANCCn.410+21050T>A
n.2369A>T
c.1554A>T (p.Ile518=)
c.1699A>T (n.1699A>T)
c.873A>T (p.Ile291=)
c.1389A>T (p.Ile463=)
c.1098A>T (p.Ile366=)
c.2319+21050T>A (n.2319+21050T>A)
c.933A>T (p.Ile311=)
9g.95101830T>CCA374104781AOPEP,FANCCn.410+21050T>C
n.2369A>G
c.1554A>G (p.Ile518Met)
c.1699A>G (n.1699A>G)
c.873A>G (p.Ile291Met)
c.1389A>G (p.Ile463Met)
c.1098A>G (p.Ile366Met)
c.2319+21050T>C (n.2319+21050T>C)
c.933A>G (p.Ile311Met)
 ClinVar gnomAD v4
9g.95101830T>GCA466092115AOPEP,FANCCn.410+21050T>G
n.2369A>C
c.1554A>C (p.Ile518=)
c.1699A>C (n.1699A>C)
c.873A>C (p.Ile291=)
c.1389A>C (p.Ile463=)
c.1098A>C (p.Ile366=)
c.2319+21050T>G (n.2319+21050T>G)
c.933A>C (p.Ile311=)
9g.95101830_95101835delCA913160923AOPEP,FANCCn.410+21050_410+21055del
n.2364_2369del
c.1549_1554del (p.Glu517_Ile518del)
c.1694_1699del (n.1694_1699del)
c.868_873del (p.Glu290_Ile291del)
c.1384_1389del (p.Glu462_Ile463del)
c.1093_1098del (p.Glu365_Ile366del)
c.2319+21050_2319+21055del (n.2319+21050_2319+21055del)
c.928_933del (p.Glu310_Ile311del)
9g.95101830_95101835delinsTATCTCCA1865459571AOPEP,FANCCn.410+21050_410+21055delinsTATCTC
n.2364_2369delinsGAGATA
c.1549_1554delinsGAGATA (p.Glu517=)
c.1694_1699delinsGAGATA (n.1694_1699delinsGAGATA)
c.868_873delinsGAGATA (p.Glu290=)
c.1384_1389delinsGAGATA (p.Glu462=)
c.1093_1098delinsGAGATA (p.Glu365=)
c.2319+21050_2319+21055delinsTATCTC (n.2319+21050_2319+21055delinsTATCTC)
c.928_933delinsGAGATA (p.Glu310=)
9g.95101831A>CCA374104785AOPEP,FANCCn.410+21051A>C
n.2368T>G
c.1553T>G (p.Ile518Arg)
c.1698T>G (n.1698T>G)
c.872T>G (p.Ile291Arg)
c.1388T>G (p.Ile463Arg)
c.1097T>G (p.Ile366Arg)
c.2319+21051A>C (n.2319+21051A>C)
c.932T>G (p.Ile311Arg)
9g.95101831A>GCA374104786AOPEP,FANCCn.410+21051A>G
n.2368T>C
c.1553T>C (p.Ile518Thr)
c.1698T>C (n.1698T>C)
c.872T>C (p.Ile291Thr)
c.1388T>C (p.Ile463Thr)
c.1097T>C (p.Ile366Thr)
c.2319+21051A>G (n.2319+21051A>G)
c.932T>C (p.Ile311Thr)
9g.95101831A>TCA374104784AOPEP,FANCCn.410+21051A>T
n.2368T>A
c.1553T>A (p.Ile518Lys)
c.1698T>A (n.1698T>A)
c.872T>A (p.Ile291Lys)
c.1388T>A (p.Ile463Lys)
c.1097T>A (p.Ile366Lys)
c.2319+21051A>T (n.2319+21051A>T)
c.932T>A (p.Ile311Lys)
9g.95101832_95101836delCA658822331AOPEP,FANCCn.410+21052_410+21056del
n.2364_2368del
c.1549_1553del (p.Glu517AsnfsTer9)
c.1694_1698del (n.1694_1698del)
c.868_872del (p.Glu290AsnfsTer9)
c.1384_1388del (p.Glu462AsnfsTer9)
c.1093_1097del (p.Glu365AsnfsTer9)
c.2319+21052_2319+21056del (n.2319+21052_2319+21056del)
c.928_932del (p.Glu310AsnfsTer9)
 ClinVar dbSNP gnomAD v4
9g.95101832T>ACA374104789AOPEP,FANCCn.410+21052T>A
n.2367A>T
c.1552A>T (p.Ile518Leu)
c.1697A>T (n.1697A>T)
c.871A>T (p.Ile291Leu)
c.1387A>T (p.Ile463Leu)
c.1096A>T (p.Ile366Leu)
c.2319+21052T>A (n.2319+21052T>A)
c.931A>T (p.Ile311Leu)
 ClinVar
9g.95101832T>CCA374104791AOPEP,FANCCn.410+21052T>C
n.2367A>G
c.1552A>G (p.Ile518Val)
c.1697A>G (n.1697A>G)
c.871A>G (p.Ile291Val)
c.1387A>G (p.Ile463Val)
c.1096A>G (p.Ile366Val)
c.2319+21052T>C (n.2319+21052T>C)
c.931A>G (p.Ile311Val)
 ClinVar
9g.95101832T>GCA374104794AOPEP,FANCCn.410+21052T>G
n.2367A>C
c.1552A>C (p.Ile518Leu)
c.1697A>C (n.1697A>C)
c.871A>C (p.Ile291Leu)
c.1387A>C (p.Ile463Leu)
c.1096A>C (p.Ile366Leu)
c.2319+21052T>G (n.2319+21052T>G)
c.931A>C (p.Ile311Leu)
9g.95101834_95101835delCA2739269362AOPEP,FANCCn.410+21054_410+21055del
n.2366_2367del
c.1551_1552del (p.Glu517AspfsTer10)
c.1696_1697del (n.1696_1697del)
c.870_871del (p.Glu290AspfsTer10)
c.1386_1387del (p.Glu462AspfsTer10)
c.1095_1096del (p.Glu365AspfsTer10)
c.2319+21054_2319+21055del (n.2319+21054_2319+21055del)
c.930_931del (p.Glu310AspfsTer10)
 ClinVar
9g.95101833C>ACA374104796AOPEP,FANCCn.410+21053C>A
n.2366G>T
c.1551G>T (p.Glu517Asp)
c.1696G>T (n.1696G>T)
c.870G>T (p.Glu290Asp)
c.1386G>T (p.Glu462Asp)
c.1095G>T (p.Glu365Asp)
c.2319+21053C>A (n.2319+21053C>A)
c.930G>T (p.Glu310Asp)
9g.95101833C=CA1865459572AOPEP,FANCCn.410+21053C=
n.2366G=
c.1551G= (p.Glu517=)
c.1696G= (n.1696G=)
c.870G= (p.Glu290=)
c.1386G= (p.Glu462=)
c.1095G= (p.Glu365=)
c.2319+21053C= (n.2319+21053C=)
c.930G= (p.Glu310=)
9g.95101833C>GCA374104797AOPEP,FANCCn.410+21053C>G
n.2366G>C
c.1551G>C (p.Glu517Asp)
c.1696G>C (n.1696G>C)
c.870G>C (p.Glu290Asp)
c.1386G>C (p.Glu462Asp)
c.1095G>C (p.Glu365Asp)
c.2319+21053C>G (n.2319+21053C>G)
c.930G>C (p.Glu310Asp)
 ClinVar dbSNP
9g.95101833C>TCA466092119AOPEP,FANCCn.410+21053C>T
n.2366G>A
c.1551G>A (p.Glu517=)
c.1696G>A (n.1696G>A)
c.870G>A (p.Glu290=)
c.1386G>A (p.Glu462=)
c.1095G>A (p.Glu365=)
c.2319+21053C>T (n.2319+21053C>T)
c.930G>A (p.Glu310=)
 dbSNP
9g.95101834T>ACA374104805AOPEP,FANCCn.410+21054T>A
n.2365A>T
c.1550A>T (p.Glu517Val)
c.1695A>T (n.1695A>T)
c.869A>T (p.Glu290Val)
c.1385A>T (p.Glu462Val)
c.1094A>T (p.Glu365Val)
c.2319+21054T>A (n.2319+21054T>A)
c.929A>T (p.Glu310Val)
 COSMIC
9g.95101834T>CCA374104803AOPEP,FANCCn.410+21054T>C
n.2365A>G
c.1550A>G (p.Glu517Gly)
c.1695A>G (n.1695A>G)
c.869A>G (p.Glu290Gly)
c.1385A>G (p.Glu462Gly)
c.1094A>G (p.Glu365Gly)
c.2319+21054T>C (n.2319+21054T>C)
c.929A>G (p.Glu310Gly)
9g.95101834T>GCA374104802AOPEP,FANCCn.410+21054T>G
n.2365A>C
c.1550A>C (p.Glu517Ala)
c.1695A>C (n.1695A>C)
c.869A>C (p.Glu290Ala)
c.1385A>C (p.Glu462Ala)
c.1094A>C (p.Glu365Ala)
c.2319+21054T>G (n.2319+21054T>G)
c.929A>C (p.Glu310Ala)
 gnomAD v4
9g.95101834dupCA1139661051AOPEP,FANCCn.410+21054dup
n.2365dup
c.1550dup (p.Ile518AspfsTer10)
c.1695dup (n.1695dup)
c.869dup (p.Ile291AspfsTer10)
c.1385dup (p.Ile463AspfsTer10)
c.1094dup (p.Ile366AspfsTer10)
c.2319+21054dup (n.2319+21054dup)
c.929dup (p.Ile311AspfsTer10)
 ClinVar dbSNP
9g.95101835C>ACA374104807AOPEP,FANCCn.410+21055C>A
n.2364G>T
c.1549G>T (p.Glu517Ter)
c.1694G>T (n.1694G>T)
c.868G>T (p.Glu290Ter)
c.1384G>T (p.Glu462Ter)
c.1093G>T (p.Glu365Ter)
c.2319+21055C>A (n.2319+21055C>A)
c.928G>T (p.Glu310Ter)
9g.95101835C>GCA374104809AOPEP,FANCCn.410+21055C>G
n.2364G>C
c.1549G>C (p.Glu517Gln)
c.1694G>C (n.1694G>C)
c.868G>C (p.Glu290Gln)
c.1384G>C (p.Glu462Gln)
c.1093G>C (p.Glu365Gln)
c.2319+21055C>G (n.2319+21055C>G)
c.928G>C (p.Glu310Gln)
 gnomAD v4
9g.95101835C>TCA374104811AOPEP,FANCCn.410+21055C>T
n.2364G>A
c.1549G>A (p.Glu517Lys)
c.1694G>A (n.1694G>A)
c.868G>A (p.Glu290Lys)
c.1384G>A (p.Glu462Lys)
c.1093G>A (p.Glu365Lys)
c.2319+21055C>T (n.2319+21055C>T)
c.928G>A (p.Glu310Lys)
9g.95101835dupCA2690785722AOPEP,FANCCn.410+21055dup
n.2364dup
c.1549dup (p.Glu517GlyfsTer11)
c.1694dup (n.1694dup)
c.868dup (p.Glu290GlyfsTer11)
c.1384dup (p.Glu462GlyfsTer11)
c.1093dup (p.Glu365GlyfsTer11)
c.2319+21055dup (n.2319+21055dup)
c.928dup (p.Glu310GlyfsTer11)
 gnomAD v4
9g.95101836A=CA1865459573AOPEP,FANCCn.410+21056A=
n.2363T=
c.1548T= (p.Ala516=)
c.1693T= (n.1693T=)
c.867T= (p.Ala289=)
c.1383T= (p.Ala461=)
c.1092T= (p.Ala364=)
c.2319+21056A= (n.2319+21056A=)
c.927T= (p.Ala309=)
9g.95101836A>CCA466092121AOPEP,FANCCn.410+21056A>C
n.2363T>G
c.1548T>G (p.Ala516=)
c.1693T>G (n.1693T>G)
c.867T>G (p.Ala289=)
c.1383T>G (p.Ala461=)
c.1092T>G (p.Ala364=)
c.2319+21056A>C (n.2319+21056A>C)
c.927T>G (p.Ala309=)
9g.95101836A>GCA466092122AOPEP,FANCCn.410+21056A>G
n.2363T>C
c.1548T>C (p.Ala516=)
c.1693T>C (n.1693T>C)
c.867T>C (p.Ala289=)
c.1383T>C (p.Ala461=)
c.1092T>C (p.Ala364=)
c.2319+21056A>G (n.2319+21056A>G)
c.927T>C (p.Ala309=)
9g.95101836A>TCA196536810AOPEP,FANCCn.410+21056A>T
n.2363T>A
c.1548T>A (p.Ala516=)
c.1693T>A (n.1693T>A)
c.867T>A (p.Ala289=)
c.1383T>A (p.Ala461=)
c.1092T>A (p.Ala364=)
c.2319+21056A>T (n.2319+21056A>T)
c.927T>A (p.Ala309=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.95101837G>ACA374104814AOPEP,FANCCn.410+21057G>A
n.2362C>T
c.1547C>T (p.Ala516Val)
c.1692C>T (n.1692C>T)
c.866C>T (p.Ala289Val)
c.1382C>T (p.Ala461Val)
c.1091C>T (p.Ala364Val)
c.2319+21057G>A (n.2319+21057G>A)
c.926C>T (p.Ala309Val)
9g.95101837G>CCA374104816AOPEP,FANCCn.410+21057G>C
n.2362C>G
c.1547C>G (p.Ala516Gly)
c.1692C>G (n.1692C>G)
c.866C>G (p.Ala289Gly)
c.1382C>G (p.Ala461Gly)
c.1091C>G (p.Ala364Gly)
c.2319+21057G>C (n.2319+21057G>C)
c.926C>G (p.Ala309Gly)
9g.95101837G>TCA374104818AOPEP,FANCCn.410+21057G>T
n.2362C>A
c.1547C>A (p.Ala516Asp)
c.1692C>A (n.1692C>A)
c.866C>A (p.Ala289Asp)
c.1382C>A (p.Ala461Asp)
c.1091C>A (p.Ala364Asp)
c.2319+21057G>T (n.2319+21057G>T)
c.926C>A (p.Ala309Asp)
9g.95101837_95101838delinsAACA658657887AOPEP,FANCCn.410+21057_410+21058delinsAA
n.2361_2362delinsTT
c.1546_1547delinsTT (p.Ala516Phe)
c.1691_1692delinsTT (n.1691_1692delinsTT)
c.865_866delinsTT (p.Ala289Phe)
c.1381_1382delinsTT (p.Ala461Phe)
c.1090_1091delinsTT (p.Ala364Phe)
c.2319+21057_2319+21058delinsAA (n.2319+21057_2319+21058delinsAA)
c.925_926delinsTT (p.Ala309Phe)
 ClinVar dbSNP
9g.95101837_95101838delinsGCCA1865459574AOPEP,FANCCn.410+21057_410+21058delinsGC
n.2361_2362delinsGC
c.1546_1547delinsGC (p.Ala516=)
c.1691_1692delinsGC (n.1691_1692delinsGC)
c.865_866delinsGC (p.Ala289=)
c.1381_1382delinsGC (p.Ala461=)
c.1090_1091delinsGC (p.Ala364=)
c.2319+21057_2319+21058delinsGC (n.2319+21057_2319+21058delinsGC)
c.925_926delinsGC (p.Ala309=)
9g.95101838C>ACA374104821AOPEP,FANCCn.410+21058C>A
n.2361G>T
c.1546G>T (p.Ala516Ser)
c.1691G>T (n.1691G>T)
c.865G>T (p.Ala289Ser)
c.1381G>T (p.Ala461Ser)
c.1090G>T (p.Ala364Ser)
c.2319+21058C>A (n.2319+21058C>A)
c.925G>T (p.Ala309Ser)
9g.95101838C>GCA374104825AOPEP,FANCCn.410+21058C>G
n.2361G>C
c.1546G>C (p.Ala516Pro)
c.1691G>C (n.1691G>C)
c.865G>C (p.Ala289Pro)
c.1381G>C (p.Ala461Pro)
c.1090G>C (p.Ala364Pro)
c.2319+21058C>G (n.2319+21058C>G)
c.925G>C (p.Ala309Pro)
9g.95101838C>TCA374104823AOPEP,FANCCn.410+21058C>T
n.2361G>A
c.1546G>A (p.Ala516Thr)
c.1691G>A (n.1691G>A)
c.865G>A (p.Ala289Thr)
c.1381G>A (p.Ala461Thr)
c.1090G>A (p.Ala364Thr)
c.2319+21058C>T (n.2319+21058C>T)
c.925G>A (p.Ala309Thr)
 ClinVar dbSNP gnomAD v4
9g.95101839A=CA1865459575AOPEP,FANCCn.410+21059A=
n.2360T=
c.1545T= (p.Thr515=)
c.1690T= (n.1690T=)
c.864T= (p.Thr288=)
c.1380T= (p.Thr460=)
c.1089T= (p.Thr363=)
c.2319+21059A= (n.2319+21059A=)
c.924T= (p.Thr308=)
9g.95101839A>CCA466092125AOPEP,FANCCn.410+21059A>C
n.2360T>G
c.1545T>G (p.Thr515=)
c.1690T>G (n.1690T>G)
c.864T>G (p.Thr288=)
c.1380T>G (p.Thr460=)
c.1089T>G (p.Thr363=)
c.2319+21059A>C (n.2319+21059A>C)
c.924T>G (p.Thr308=)
9g.95101839A>GCA466092126AOPEP,FANCCn.410+21059A>G
n.2360T>C
c.1545T>C (p.Thr515=)
c.1690T>C (n.1690T>C)
c.864T>C (p.Thr288=)
c.1380T>C (p.Thr460=)
c.1089T>C (p.Thr363=)
c.2319+21059A>G (n.2319+21059A>G)
c.924T>C (p.Thr308=)
 ClinVar dbSNP gnomAD v4
9g.95101839A>TCA466092127AOPEP,FANCCn.410+21059A>T
n.2360T>A
c.1545T>A (p.Thr515=)
c.1690T>A (n.1690T>A)
c.864T>A (p.Thr288=)
c.1380T>A (p.Thr460=)
c.1089T>A (p.Thr363=)
c.2319+21059A>T (n.2319+21059A>T)
c.924T>A (p.Thr308=)
 ClinVar dbSNP
9g.95101840G>ACA374104827AOPEP,FANCCn.410+21060G>A
n.2359C>T
c.1544C>T (p.Thr515Ile)
c.1689C>T (n.1689C>T)
c.863C>T (p.Thr288Ile)
c.1379C>T (p.Thr460Ile)
c.1088C>T (p.Thr363Ile)
c.2319+21060G>A (n.2319+21060G>A)
c.923C>T (p.Thr308Ile)
9g.95101840G>CCA5137299AOPEP,FANCCn.410+21060G>C
n.2359C>G
c.1544C>G (p.Thr515Ser)
c.1689C>G (n.1689C>G)
c.863C>G (p.Thr288Ser)
c.1379C>G (p.Thr460Ser)
c.1088C>G (p.Thr363Ser)
c.2319+21060G>C (n.2319+21060G>C)
c.923C>G (p.Thr308Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101840G=CA1865459576AOPEP,FANCCn.410+21060G=
n.2359C=
c.1544C= (p.Thr515=)
c.1689C= (n.1689C=)
c.863C= (p.Thr288=)
c.1379C= (p.Thr460=)
c.1088C= (p.Thr363=)
c.2319+21060G= (n.2319+21060G=)
c.923C= (p.Thr308=)
9g.95101840G>TCA374104831AOPEP,FANCCn.410+21060G>T
n.2359C>A
c.1544C>A (p.Thr515Asn)
c.1689C>A (n.1689C>A)
c.863C>A (p.Thr288Asn)
c.1379C>A (p.Thr460Asn)
c.1088C>A (p.Thr363Asn)
c.2319+21060G>T (n.2319+21060G>T)
c.923C>A (p.Thr308Asn)
9g.95101841T>ACA374104833AOPEP,FANCCn.410+21061T>A
n.2358A>T
c.1543A>T (p.Thr515Ser)
c.1688A>T (n.1688A>T)
c.862A>T (p.Thr288Ser)
c.1378A>T (p.Thr460Ser)
c.1087A>T (p.Thr363Ser)
c.2319+21061T>A (n.2319+21061T>A)
c.922A>T (p.Thr308Ser)
9g.95101841T>CCA374104835AOPEP,FANCCn.410+21061T>C
n.2358A>G
c.1543A>G (p.Thr515Ala)
c.1688A>G (n.1688A>G)
c.862A>G (p.Thr288Ala)
c.1378A>G (p.Thr460Ala)
c.1087A>G (p.Thr363Ala)
c.2319+21061T>C (n.2319+21061T>C)
c.922A>G (p.Thr308Ala)
9g.95101841T>GCA374104836AOPEP,FANCCn.410+21061T>G
n.2358A>C
c.1543A>C (p.Thr515Pro)
c.1688A>C (n.1688A>C)
c.862A>C (p.Thr288Pro)
c.1378A>C (p.Thr460Pro)
c.1087A>C (p.Thr363Pro)
c.2319+21061T>G (n.2319+21061T>G)
c.922A>C (p.Thr308Pro)
 ClinVar
9g.95101842G>ACA466092130AOPEP,FANCCn.410+21062G>A
n.2357C>T
c.1542C>T (p.His514=)
c.1687C>T (n.1687C>T)
c.861C>T (p.His287=)
c.1377C>T (p.His459=)
c.1086C>T (p.His362=)
c.2319+21062G>A (n.2319+21062G>A)
c.921C>T (p.His307=)
9g.95101842G>CCA374104837AOPEP,FANCCn.410+21062G>C
n.2357C>G
c.1542C>G (p.His514Gln)
c.1687C>G (n.1687C>G)
c.861C>G (p.His287Gln)
c.1377C>G (p.His459Gln)
c.1086C>G (p.His362Gln)
c.2319+21062G>C (n.2319+21062G>C)
c.921C>G (p.His307Gln)
 ClinVar
9g.95101842G>TCA374104839AOPEP,FANCCn.410+21062G>T
n.2357C>A
c.1542C>A (p.His514Gln)
c.1687C>A (n.1687C>A)
c.861C>A (p.His287Gln)
c.1377C>A (p.His459Gln)
c.1086C>A (p.His362Gln)
c.2319+21062G>T (n.2319+21062G>T)
c.921C>A (p.His307Gln)
9g.95101843T>ACA374104841AOPEP,FANCCn.410+21063T>A
n.2356A>T
c.1541A>T (p.His514Leu)
c.1686A>T (n.1686A>T)
c.860A>T (p.His287Leu)
c.1376A>T (p.His459Leu)
c.1085A>T (p.His362Leu)
c.2319+21063T>A (n.2319+21063T>A)
c.920A>T (p.His307Leu)
 dbSNP
9g.95101843T>CCA374104843AOPEP,FANCCn.410+21063T>C
n.2356A>G
c.1541A>G (p.His514Arg)
c.1686A>G (n.1686A>G)
c.860A>G (p.His287Arg)
c.1376A>G (p.His459Arg)
c.1085A>G (p.His362Arg)
c.2319+21063T>C (n.2319+21063T>C)
c.920A>G (p.His307Arg)
 ClinVar gnomAD v4
9g.95101843T>GCA374104844AOPEP,FANCCn.410+21063T>G
n.2356A>C
c.1541A>C (p.His514Pro)
c.1686A>C (n.1686A>C)
c.860A>C (p.His287Pro)
c.1376A>C (p.His459Pro)
c.1085A>C (p.His362Pro)
c.2319+21063T>G (n.2319+21063T>G)
c.920A>C (p.His307Pro)
9g.95101844G>ACA5137300AOPEP,FANCCn.410+21064G>A
n.2355C>T
c.1540C>T (p.His514Tyr)
c.1685C>T (n.1685C>T)
c.859C>T (p.His287Tyr)
c.1375C>T (p.His459Tyr)
c.1084C>T (p.His362Tyr)
c.2319+21064G>A (n.2319+21064G>A)
c.919C>T (p.His307Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.95101844G>CCA374104849AOPEP,FANCCn.410+21064G>C
n.2355C>G
c.1540C>G (p.His514Asp)
c.1685C>G (n.1685C>G)
c.859C>G (p.His287Asp)
c.1375C>G (p.His459Asp)
c.1084C>G (p.His362Asp)
c.2319+21064G>C (n.2319+21064G>C)
c.919C>G (p.His307Asp)
9g.95101844G=CA1865459577AOPEP,FANCCn.410+21064G=
n.2355C=
c.1540C= (p.His514=)
c.1685C= (n.1685C=)
c.859C= (p.His287=)
c.1375C= (p.His459=)
c.1084C= (p.His362=)
c.2319+21064G= (n.2319+21064G=)
c.919C= (p.His307=)
9g.95101844G>TCA374104846AOPEP,FANCCn.410+21064G>T
n.2355C>A
c.1540C>A (p.His514Asn)
c.1685C>A (n.1685C>A)
c.859C>A (p.His287Asn)
c.1375C>A (p.His459Asn)
c.1084C>A (p.His362Asn)
c.2319+21064G>T (n.2319+21064G>T)
c.919C>A (p.His307Asn)
9g.95101845A>CCA466092132AOPEP,FANCCn.410+21065A>C
n.2354T>G
c.1539T>G (p.Ala513=)
c.1684T>G (n.1684T>G)
c.858T>G (p.Ala286=)
c.1374T>G (p.Ala458=)
c.1083T>G (p.Ala361=)
c.2319+21065A>C (n.2319+21065A>C)
c.918T>G (p.Ala306=)
9g.95101845A>GCA466092134AOPEP,FANCCn.410+21065A>G
n.2354T>C
c.1539T>C (p.Ala513=)
c.1684T>C (n.1684T>C)
c.858T>C (p.Ala286=)
c.1374T>C (p.Ala458=)
c.1083T>C (p.Ala361=)
c.2319+21065A>G (n.2319+21065A>G)
c.918T>C (p.Ala306=)
 ClinVar dbSNP
9g.95101845A>TCA466092133AOPEP,FANCCn.410+21065A>T
n.2354T>A
c.1539T>A (p.Ala513=)
c.1684T>A (n.1684T>A)
c.858T>A (p.Ala286=)
c.1374T>A (p.Ala458=)
c.1083T>A (p.Ala361=)
c.2319+21065A>T (n.2319+21065A>T)
c.918T>A (p.Ala306=)
9g.95101846G>ACA374104852AOPEP,FANCCn.410+21066G>A
n.2353C>T
c.1538C>T (p.Ala513Val)
c.1683C>T (n.1683C>T)
c.857C>T (p.Ala286Val)
c.1373C>T (p.Ala458Val)
c.1082C>T (p.Ala361Val)
c.2319+21066G>A (n.2319+21066G>A)
c.917C>T (p.Ala306Val)
 ClinVar gnomAD v4
9g.95101846G>CCA374104859AOPEP,FANCCn.410+21066G>C
n.2353C>G
c.1538C>G (p.Ala513Gly)
c.1683C>G (n.1683C>G)
c.857C>G (p.Ala286Gly)
c.1373C>G (p.Ala458Gly)
c.1082C>G (p.Ala361Gly)
c.2319+21066G>C (n.2319+21066G>C)
c.917C>G (p.Ala306Gly)
9g.95101846G>TCA374104854AOPEP,FANCCn.410+21066G>T
n.2353C>A
c.1538C>A (p.Ala513Asp)
c.1683C>A (n.1683C>A)
c.857C>A (p.Ala286Asp)
c.1373C>A (p.Ala458Asp)
c.1082C>A (p.Ala361Asp)
c.2319+21066G>T (n.2319+21066G>T)
c.917C>A (p.Ala306Asp)

Number of alleles fetched