Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.54628097A>CCA370981706RP1c.4215A>C (p.Glu1405Asp)
c.787+5809A>C (n.787+5809A>C)
c.4236A>C (p.Glu1412Asp)
8g.54628097A>GCA461099868RP1c.4215A>G (p.Glu1405=)
c.787+5809A>G (n.787+5809A>G)
c.4236A>G (p.Glu1412=)
8g.54628097A>TCA370981707RP1c.4215A>T (p.Glu1405Asp)
c.787+5809A>T (n.787+5809A>T)
c.4236A>T (p.Glu1412Asp)
8g.54628097_54628101delinsAAAAGCA1785189033RP1c.4215_4219delinsAAAAG (p.Glu1405=)
c.787+5809_787+5813delinsAAAAG (n.787+5809_787+5813delinsAAAAG)
c.4236_4240delinsAAAAG (p.Glu1412=)
8g.54628098A=CA1785189034RP1c.4216A= (p.Lys1406=)
c.787+5810A= (n.787+5810A=)
c.4237A= (p.Lys1413=)
8g.54628098A>CCA370981708RP1c.4216A>C (p.Lys1406Gln)
c.787+5810A>C (n.787+5810A>C)
c.4237A>C (p.Lys1413Gln)
 dbSNP gnomAD v4
8g.54628098A>GCA4751820RP1c.4216A>G (p.Lys1406Glu)
c.787+5810A>G (n.787+5810A>G)
c.4237A>G (p.Lys1413Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54628098A>TCA370981709RP1c.4216A>T (p.Lys1406Ter)
c.787+5810A>T (n.787+5810A>T)
c.4237A>T (p.Lys1413Ter)
8g.54628100_54628103delCA1139660542RP1c.4218_4221del (p.Glu1407GlnfsTer10)
c.787+5812_787+5815del (n.787+5812_787+5815del)
c.4239_4242del (p.Glu1414GlnfsTer10)
 ClinVar dbSNP
8g.54628099A>CCA370981710RP1c.4217A>C (p.Lys1406Thr)
c.787+5811A>C (n.787+5811A>C)
c.4238A>C (p.Lys1413Thr)
8g.54628099A>GCA370981711RP1c.4217A>G (p.Lys1406Arg)
c.787+5811A>G (n.787+5811A>G)
c.4238A>G (p.Lys1413Arg)
8g.54628099A>TCA370981712RP1c.4217A>T (p.Lys1406Ile)
c.787+5811A>T (n.787+5811A>T)
c.4238A>T (p.Lys1413Ile)
8g.54628100A>CCA370981713RP1c.4218A>C (p.Lys1406Asn)
c.787+5812A>C (n.787+5812A>C)
c.4239A>C (p.Lys1413Asn)
 gnomAD v4
8g.54628100A>GCA461099877RP1c.4218A>G (p.Lys1406=)
c.787+5812A>G (n.787+5812A>G)
c.4239A>G (p.Lys1413=)
 COSMIC
8g.54628100A>TCA370981714RP1c.4218A>T (p.Lys1406Asn)
c.787+5812A>T (n.787+5812A>T)
c.4239A>T (p.Lys1413Asn)
8g.54628101G>ACA370981715RP1c.4219G>A (p.Glu1407Lys)
c.787+5813G>A (n.787+5813G>A)
c.4240G>A (p.Glu1414Lys)
8g.54628101G>CCA370981716RP1c.4219G>C (p.Glu1407Gln)
c.787+5813G>C (n.787+5813G>C)
c.4240G>C (p.Glu1414Gln)
 dbSNP gnomAD v2 gnomAD v4
8g.54628101G=CA1785189035RP1c.4219G= (p.Glu1407=)
c.787+5813G= (n.787+5813G=)
c.4240G= (p.Glu1414=)
8g.54628101G>TCA370981717RP1c.4219G>T (p.Glu1407Ter)
c.787+5813G>T (n.787+5813G>T)
c.4240G>T (p.Glu1414Ter)
 COSMIC
8g.54628102A>CCA370981718RP1c.4220A>C (p.Glu1407Ala)
c.787+5814A>C (n.787+5814A>C)
c.4241A>C (p.Glu1414Ala)
8g.54628102A>GCA370981719RP1c.4220A>G (p.Glu1407Gly)
c.787+5814A>G (n.787+5814A>G)
c.4241A>G (p.Glu1414Gly)
8g.54628102A>TCA370981720RP1c.4220A>T (p.Glu1407Val)
c.787+5814A>T (n.787+5814A>T)
c.4241A>T (p.Glu1414Val)
8g.54628103A>CCA370981721RP1c.4221A>C (p.Glu1407Asp)
c.787+5815A>C (n.787+5815A>C)
c.4242A>C (p.Glu1414Asp)
8g.54628103A>GCA461099881RP1c.4221A>G (p.Glu1407=)
c.787+5815A>G (n.787+5815A>G)
c.4242A>G (p.Glu1414=)
8g.54628103A>TCA370981722RP1c.4221A>T (p.Glu1407Asp)
c.787+5815A>T (n.787+5815A>T)
c.4242A>T (p.Glu1414Asp)
 gnomAD v4
8g.54628104G>ACA370981723RP1c.4222G>A (p.Ala1408Thr)
c.787+5816G>A (n.787+5816G>A)
c.4243G>A (p.Ala1415Thr)
 ClinVar dbSNP
8g.54628104G>CCA370981724RP1c.4222G>C (p.Ala1408Pro)
c.787+5816G>C (n.787+5816G>C)
c.4243G>C (p.Ala1415Pro)
8g.54628104G=CA1785189036RP1c.4222G= (p.Ala1408=)
c.787+5816G= (n.787+5816G=)
c.4243G= (p.Ala1415=)
8g.54628104G>TCA370981725RP1c.4222G>T (p.Ala1408Ser)
c.787+5816G>T (n.787+5816G>T)
c.4243G>T (p.Ala1415Ser)
8g.54628105C>ACA4751821RP1c.4223C>A (p.Ala1408Glu)
c.787+5817C>A (n.787+5817C>A)
c.4244C>A (p.Ala1415Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628105C=CA1785189037RP1c.4223C= (p.Ala1408=)
c.787+5817C= (n.787+5817C=)
c.4244C= (p.Ala1415=)
8g.54628105C>GCA370981727RP1c.4223C>G (p.Ala1408Gly)
c.787+5817C>G (n.787+5817C>G)
c.4244C>G (p.Ala1415Gly)
8g.54628105C>TCA370981726RP1c.4223C>T (p.Ala1408Val)
c.787+5817C>T (n.787+5817C>T)
c.4244C>T (p.Ala1415Val)
 gnomAD v4
8g.54628106A=CA1785189038RP1c.4224A= (p.Ala1408=)
c.787+5818A= (n.787+5818A=)
c.4245A= (p.Ala1415=)
8g.54628106A>CCA461099883RP1c.4224A>C (p.Ala1408=)
c.787+5818A>C (n.787+5818A>C)
c.4245A>C (p.Ala1415=)
8g.54628106A>GCA177181453RP1c.4224A>G (p.Ala1408=)
c.787+5818A>G (n.787+5818A>G)
c.4245A>G (p.Ala1415=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.54628106A>TCA461099889RP1c.4224A>T (p.Ala1408=)
c.787+5818A>T (n.787+5818A>T)
c.4245A>T (p.Ala1415=)
8g.54628107G>ACA370981730RP1c.4225G>A (p.Glu1409Lys)
c.787+5819G>A (n.787+5819G>A)
c.4246G>A (p.Glu1416Lys)
 COSMIC
8g.54628107G>CCA370981728RP1c.4225G>C (p.Glu1409Gln)
c.787+5819G>C (n.787+5819G>C)
c.4246G>C (p.Glu1416Gln)
8g.54628107G>TCA370981729RP1c.4225G>T (p.Glu1409Ter)
c.787+5819G>T (n.787+5819G>T)
c.4246G>T (p.Glu1416Ter)
8g.54628108A>CCA370981731RP1c.4226A>C (p.Glu1409Ala)
c.787+5820A>C (n.787+5820A>C)
c.4247A>C (p.Glu1416Ala)
8g.54628108A>GCA370981732RP1c.4226A>G (p.Glu1409Gly)
c.787+5820A>G (n.787+5820A>G)
c.4247A>G (p.Glu1416Gly)
 gnomAD v4
8g.54628108A>TCA370981733RP1c.4226A>T (p.Glu1409Val)
c.787+5820A>T (n.787+5820A>T)
c.4247A>T (p.Glu1416Val)
 ClinVar
8g.54628109A>CCA370981734RP1c.4227A>C (p.Glu1409Asp)
c.787+5821A>C (n.787+5821A>C)
c.4248A>C (p.Glu1416Asp)
 gnomAD v4
8g.54628109A>GCA461099894RP1c.4227A>G (p.Glu1409=)
c.787+5821A>G (n.787+5821A>G)
c.4248A>G (p.Glu1416=)
8g.54628109A>TCA370981735RP1c.4227A>T (p.Glu1409Asp)
c.787+5821A>T (n.787+5821A>T)
c.4248A>T (p.Glu1416Asp)
8g.54628110C>ACA370981736RP1c.4228C>A (p.Leu1410Ile)
c.787+5822C>A (n.787+5822C>A)
c.4249C>A (p.Leu1417Ile)
 gnomAD v4
8g.54628110C>GCA370981737RP1c.4228C>G (p.Leu1410Val)
c.787+5822C>G (n.787+5822C>G)
c.4249C>G (p.Leu1417Val)
8g.54628110C>TCA370981738RP1c.4228C>T (p.Leu1410Phe)
c.787+5822C>T (n.787+5822C>T)
c.4249C>T (p.Leu1417Phe)
8g.54628111T>ACA370981739RP1c.4229T>A (p.Leu1410His)
c.787+5823T>A (n.787+5823T>A)
c.4250T>A (p.Leu1417His)
8g.54628111T>CCA4751823RP1c.4229T>C (p.Leu1410Pro)
c.787+5823T>C (n.787+5823T>C)
c.4250T>C (p.Leu1417Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.54628111T>GCA4751822RP1c.4229T>G (p.Leu1410Arg)
c.787+5823T>G (n.787+5823T>G)
c.4250T>G (p.Leu1417Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.54628111T=CA1785189039RP1c.4229T= (p.Leu1410=)
c.787+5823T= (n.787+5823T=)
c.4250T= (p.Leu1417=)
8g.54628112T>ACA461099901RP1c.4230T>A (p.Leu1410=)
c.787+5824T>A (n.787+5824T>A)
c.4251T>A (p.Leu1417=)
8g.54628112T>CCA461099902RP1c.4230T>C (p.Leu1410=)
c.787+5824T>C (n.787+5824T>C)
c.4251T>C (p.Leu1417=)
8g.54628112T>GCA461099903RP1c.4230T>G (p.Leu1410=)
c.787+5824T>G (n.787+5824T>G)
c.4251T>G (p.Leu1417=)
 gnomAD v4
8g.54628113G>ACA370981740RP1c.4231G>A (p.Asp1411Asn)
c.787+5825G>A (n.787+5825G>A)
c.4252G>A (p.Asp1418Asn)
8g.54628113G>CCA370981742RP1c.4231G>C (p.Asp1411His)
c.787+5825G>C (n.787+5825G>C)
c.4252G>C (p.Asp1418His)
8g.54628113G=CA1785189040RP1c.4231G= (p.Asp1411=)
c.787+5825G= (n.787+5825G=)
c.4252G= (p.Asp1418=)
8g.54628113G>TCA370981741RP1c.4231G>T (p.Asp1411Tyr)
c.787+5825G>T (n.787+5825G>T)
c.4252G>T (p.Asp1418Tyr)
 ClinVar dbSNP gnomAD v4
8g.54628114A=CA1785189041RP1c.4232A= (p.Asp1411=)
c.787+5826A= (n.787+5826A=)
c.4253A= (p.Asp1418=)
8g.54628114A>CCA370981743RP1c.4232A>C (p.Asp1411Ala)
c.787+5826A>C (n.787+5826A>C)
c.4253A>C (p.Asp1418Ala)
8g.54628114A>GCA370981744RP1c.4232A>G (p.Asp1411Gly)
c.787+5826A>G (n.787+5826A>G)
c.4253A>G (p.Asp1418Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.54628114A>TCA370981745RP1c.4232A>T (p.Asp1411Val)
c.787+5826A>T (n.787+5826A>T)
c.4253A>T (p.Asp1418Val)
8g.54628115T>ACA370981746RP1c.4233T>A (p.Asp1411Glu)
c.787+5827T>A (n.787+5827T>A)
c.4254T>A (p.Asp1418Glu)
8g.54628115T>CCA461099908RP1c.4233T>C (p.Asp1411=)
c.787+5827T>C (n.787+5827T>C)
c.4254T>C (p.Asp1418=)
8g.54628115T>GCA370981747RP1c.4233T>G (p.Asp1411Glu)
c.787+5827T>G (n.787+5827T>G)
c.4254T>G (p.Asp1418Glu)
8g.54628116A>CCA370981748RP1c.4234A>C (p.Lys1412Gln)
c.787+5828A>C (n.787+5828A>C)
c.4255A>C (p.Lys1419Gln)
8g.54628116A>GCA370981749RP1c.4234A>G (p.Lys1412Glu)
c.787+5828A>G (n.787+5828A>G)
c.4255A>G (p.Lys1419Glu)
 gnomAD v4
8g.54628116A>TCA370981750RP1c.4234A>T (p.Lys1412Ter)
c.787+5828A>T (n.787+5828A>T)
c.4255A>T (p.Lys1419Ter)
8g.54628117A>CCA370981751RP1c.4235A>C (p.Lys1412Thr)
c.787+5829A>C (n.787+5829A>C)
c.4256A>C (p.Lys1419Thr)
8g.54628117A>GCA370981752RP1c.4235A>G (p.Lys1412Arg)
c.787+5829A>G (n.787+5829A>G)
c.4256A>G (p.Lys1419Arg)
8g.54628117A>TCA370981753RP1c.4235A>T (p.Lys1412Met)
c.787+5829A>T (n.787+5829A>T)
c.4256A>T (p.Lys1419Met)
8g.54628118G>ACA461099910RP1c.4236G>A (p.Lys1412=)
c.787+5830G>A (n.787+5830G>A)
c.4257G>A (p.Lys1419=)
8g.54628118G>CCA370981755RP1c.4236G>C (p.Lys1412Asn)
c.787+5830G>C (n.787+5830G>C)
c.4257G>C (p.Lys1419Asn)
8g.54628118G>TCA370981754RP1c.4236G>T (p.Lys1412Asn)
c.787+5830G>T (n.787+5830G>T)
c.4257G>T (p.Lys1419Asn)
8g.54628119A>CCA370981756RP1c.4237A>C (p.Lys1413Gln)
c.787+5831A>C (n.787+5831A>C)
c.4258A>C (p.Lys1420Gln)
8g.54628119A>GCA370981757RP1c.4237A>G (p.Lys1413Glu)
c.787+5831A>G (n.787+5831A>G)
c.4258A>G (p.Lys1420Glu)
8g.54628119A>TCA370981758RP1c.4237A>T (p.Lys1413Ter)
c.787+5831A>T (n.787+5831A>T)
c.4258A>T (p.Lys1420Ter)
8g.54628120A>CCA370981759RP1c.4238A>C (p.Lys1413Thr)
c.787+5832A>C (n.787+5832A>C)
c.4259A>C (p.Lys1420Thr)
8g.54628120A>GCA370981760RP1c.4238A>G (p.Lys1413Arg)
c.787+5832A>G (n.787+5832A>G)
c.4259A>G (p.Lys1420Arg)
8g.54628120A>TCA370981761RP1c.4238A>T (p.Lys1413Ile)
c.787+5832A>T (n.787+5832A>T)
c.4259A>T (p.Lys1420Ile)
8g.54628121A=CA1785189042RP1c.4239A= (p.Lys1413=)
c.787+5833A= (n.787+5833A=)
c.4260A= (p.Lys1420=)
8g.54628121A>CCA4751824RP1c.4239A>C (p.Lys1413Asn)
c.787+5833A>C (n.787+5833A>C)
c.4260A>C (p.Lys1420Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628121A>GCA461099919RP1c.4239A>G (p.Lys1413=)
c.787+5833A>G (n.787+5833A>G)
c.4260A>G (p.Lys1420=)
8g.54628121A>TCA370981762RP1c.4239A>T (p.Lys1413Asn)
c.787+5833A>T (n.787+5833A>T)
c.4260A>T (p.Lys1420Asn)
 gnomAD v4
8g.54628122C>ACA370981763RP1c.4240C>A (p.His1414Asn)
c.787+5834C>A (n.787+5834C>A)
c.4261C>A (p.His1421Asn)
8g.54628122C>GCA370981765RP1c.4240C>G (p.His1414Asp)
c.787+5834C>G (n.787+5834C>G)
c.4261C>G (p.His1421Asp)
8g.54628122C>TCA370981764RP1c.4240C>T (p.His1414Tyr)
c.787+5834C>T (n.787+5834C>T)
c.4261C>T (p.His1421Tyr)
8g.54628122_54628124delinsCATCA1785189043RP1c.4240_4242delinsCAT (p.His1414=)
c.787+5834_787+5836delinsCAT (n.787+5834_787+5836delinsCAT)
c.4261_4263delinsCAT (p.His1421=)
8g.54628123A=CA1785189044RP1c.4241A= (p.His1414=)
c.787+5835A= (n.787+5835A=)
c.4262A= (p.His1421=)
8g.54628123A>CCA370981766RP1c.4241A>C (p.His1414Pro)
c.787+5835A>C (n.787+5835A>C)
c.4262A>C (p.His1421Pro)
8g.54628123A>GCA4751826RP1c.4241A>G (p.His1414Arg)
c.787+5835A>G (n.787+5835A>G)
c.4262A>G (p.His1421Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628123A>TCA370981767RP1c.4241A>T (p.His1414Leu)
c.787+5835A>T (n.787+5835A>T)
c.4262A>T (p.His1421Leu)
8g.54628124_54628125delCA4751825RP1c.4242_4243del (p.His1414GlnfsTer5)
c.787+5836_787+5837del (n.787+5836_787+5837del)
c.4263_4264del (p.His1421GlnfsTer5)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628124T>ACA370981768RP1c.4242T>A (p.His1414Gln)
c.787+5836T>A (n.787+5836T>A)
c.4263T>A (p.His1421Gln)
8g.54628124T>CCA4751827RP1c.4242T>C (p.His1414=)
c.787+5836T>C (n.787+5836T>C)
c.4263T>C (p.His1421=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628124T>GCA370981769RP1c.4242T>G (p.His1414Gln)
c.787+5836T>G (n.787+5836T>G)
c.4263T>G (p.His1421Gln)
 COSMIC
8g.54628124T=CA1785189045RP1c.4242T= (p.His1414=)
c.787+5836T= (n.787+5836T=)
c.4263T= (p.His1421=)
8g.54628125A>CCA370981770RP1c.4243A>C (p.Ser1415Arg)
c.787+5837A>C (n.787+5837A>C)
c.4264A>C (p.Ser1422Arg)
8g.54628125A>GCA370981771RP1c.4243A>G (p.Ser1415Gly)
c.787+5837A>G (n.787+5837A>G)
c.4264A>G (p.Ser1422Gly)
8g.54628125A>TCA370981772RP1c.4243A>T (p.Ser1415Cys)
c.787+5837A>T (n.787+5837A>T)
c.4264A>T (p.Ser1422Cys)
8g.54628126G>ACA370981773RP1c.4244G>A (p.Ser1415Asn)
c.787+5838G>A (n.787+5838G>A)
c.4265G>A (p.Ser1422Asn)
 COSMIC
8g.54628126G>CCA370981774RP1c.4244G>C (p.Ser1415Thr)
c.787+5838G>C (n.787+5838G>C)
c.4265G>C (p.Ser1422Thr)
8g.54628126G>TCA370981775RP1c.4244G>T (p.Ser1415Ile)
c.787+5838G>T (n.787+5838G>T)
c.4265G>T (p.Ser1422Ile)
8g.54628127T>ACA370981776RP1c.4245T>A (p.Ser1415Arg)
c.787+5839T>A (n.787+5839T>A)
c.4266T>A (p.Ser1422Arg)
8g.54628127T>CCA461099935RP1c.4245T>C (p.Ser1415=)
c.787+5839T>C (n.787+5839T>C)
c.4266T>C (p.Ser1422=)
 COSMIC
8g.54628127T>GCA370981777RP1c.4245T>G (p.Ser1415Arg)
c.787+5839T>G (n.787+5839T>G)
c.4266T>G (p.Ser1422Arg)
8g.54628128T>ACA370981778RP1c.4246T>A (p.Ser1416Thr)
c.787+5840T>A (n.787+5840T>A)
c.4267T>A (p.Ser1423Thr)
8g.54628128T>CCA370981779RP1c.4246T>C (p.Ser1416Pro)
c.787+5840T>C (n.787+5840T>C)
c.4267T>C (p.Ser1423Pro)
8g.54628128T>GCA370981780RP1c.4246T>G (p.Ser1416Ala)
c.787+5840T>G (n.787+5840T>G)
c.4267T>G (p.Ser1423Ala)
8g.54628129C>ACA370981783RP1c.4247C>A (p.Ser1416Tyr)
c.787+5841C>A (n.787+5841C>A)
c.4268C>A (p.Ser1423Tyr)
8g.54628129C>GCA370981782RP1c.4247C>G (p.Ser1416Cys)
c.787+5841C>G (n.787+5841C>G)
c.4268C>G (p.Ser1423Cys)
8g.54628129C>TCA370981781RP1c.4247C>T (p.Ser1416Phe)
c.787+5841C>T (n.787+5841C>T)
c.4268C>T (p.Ser1423Phe)
 gnomAD v4
8g.54628130T>ACA461099943RP1c.4248T>A (p.Ser1416=)
c.787+5842T>A (n.787+5842T>A)
c.4269T>A (p.Ser1423=)
8g.54628130T>CCA461099945RP1c.4248T>C (p.Ser1416=)
c.787+5842T>C (n.787+5842T>C)
c.4269T>C (p.Ser1423=)
8g.54628130T>GCA461099944RP1c.4248T>G (p.Ser1416=)
c.787+5842T>G (n.787+5842T>G)
c.4269T>G (p.Ser1423=)
8g.54628131C>ACA370981784RP1c.4249C>A (p.Leu1417Ile)
c.787+5843C>A (n.787+5843C>A)
c.4270C>A (p.Leu1424Ile)
8g.54628131C=CA1785189046RP1c.4249C= (p.Leu1417=)
c.787+5843C= (n.787+5843C=)
c.4270C= (p.Leu1424=)
8g.54628131C>GCA4751828RP1c.4249C>G (p.Leu1417Val)
c.787+5843C>G (n.787+5843C>G)
c.4270C>G (p.Leu1424Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54628131C>TCA461099946RP1c.4249C>T (p.Leu1417=)
c.787+5843C>T (n.787+5843C>T)
c.4270C>T (p.Leu1424=)
8g.54628132T>ACA370981785RP1c.4250T>A (p.Leu1417Gln)
c.787+5844T>A (n.787+5844T>A)
c.4271T>A (p.Leu1424Gln)
8g.54628132T>CCA4751829RP1c.4250T>C (p.Leu1417Pro)
c.787+5844T>C (n.787+5844T>C)
c.4271T>C (p.Leu1424Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54628132T>GCA370981786RP1c.4250T>G (p.Leu1417Arg)
c.787+5844T>G (n.787+5844T>G)
c.4271T>G (p.Leu1424Arg)
8g.54628132T=CA1785189047RP1c.4250T= (p.Leu1417=)
c.787+5844T= (n.787+5844T=)
c.4271T= (p.Leu1424=)
8g.54628133A=CA1785189048RP1c.4251A= (p.Leu1417=)
c.787+5845A= (n.787+5845A=)
c.4272A= (p.Leu1424=)
8g.54628133A>CCA177181547RP1c.4251A>C (p.Leu1417=)
c.787+5845A>C (n.787+5845A>C)
c.4272A>C (p.Leu1424=)
 dbSNP COSMIC
8g.54628133A>GCA461099948RP1c.4251A>G (p.Leu1417=)
c.787+5845A>G (n.787+5845A>G)
c.4272A>G (p.Leu1424=)
8g.54628133A>TCA461099949RP1c.4251A>T (p.Leu1417=)
c.787+5845A>T (n.787+5845A>T)
c.4272A>T (p.Leu1424=)
8g.54628134G>ACA370981787RP1c.4252G>A (p.Asp1418Asn)
c.787+5846G>A (n.787+5846G>A)
c.4273G>A (p.Asp1425Asn)
8g.54628134G>CCA370981788RP1c.4252G>C (p.Asp1418His)
c.787+5846G>C (n.787+5846G>C)
c.4273G>C (p.Asp1425His)
8g.54628134G>TCA370981789RP1c.4252G>T (p.Asp1418Tyr)
c.787+5846G>T (n.787+5846G>T)
c.4273G>T (p.Asp1425Tyr)
8g.54628135A=CA1785189049RP1c.4253A= (p.Asp1418=)
c.787+5847A= (n.787+5847A=)
c.4274A= (p.Asp1425=)
8g.54628135A>CCA370981790RP1c.4253A>C (p.Asp1418Ala)
c.787+5847A>C (n.787+5847A>C)
c.4274A>C (p.Asp1425Ala)
 ClinVar
8g.54628135A>GCA4751830RP1c.4253A>G (p.Asp1418Gly)
c.787+5847A>G (n.787+5847A>G)
c.4274A>G (p.Asp1425Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628135A>TCA370981791RP1c.4253A>T (p.Asp1418Val)
c.787+5847A>T (n.787+5847A>T)
c.4274A>T (p.Asp1425Val)
8g.54628136T>ACA370981792RP1c.4254T>A (p.Asp1418Glu)
c.787+5848T>A (n.787+5848T>A)
c.4275T>A (p.Asp1425Glu)
8g.54628136T>CCA461099957RP1c.4254T>C (p.Asp1418=)
c.787+5848T>C (n.787+5848T>C)
c.4275T>C (p.Asp1425=)
8g.54628136T>GCA370981793RP1c.4254T>G (p.Asp1418Glu)
c.787+5848T>G (n.787+5848T>G)
c.4275T>G (p.Asp1425Glu)
8g.54628137G>ACA177181551RP1c.4255G>A (p.Asp1419Asn)
c.787+5849G>A (n.787+5849G>A)
c.4276G>A (p.Asp1426Asn)
 dbSNP
8g.54628137G>CCA370981795RP1c.4255G>C (p.Asp1419His)
c.787+5849G>C (n.787+5849G>C)
c.4276G>C (p.Asp1426His)
8g.54628137G=CA1785189050RP1c.4255G= (p.Asp1419=)
c.787+5849G= (n.787+5849G=)
c.4276G= (p.Asp1426=)
8g.54628137G>TCA370981794RP1c.4255G>T (p.Asp1419Tyr)
c.787+5849G>T (n.787+5849G>T)
c.4276G>T (p.Asp1426Tyr)
 gnomAD v4
8g.54628138A>CCA370981796RP1c.4256A>C (p.Asp1419Ala)
c.787+5850A>C (n.787+5850A>C)
c.4277A>C (p.Asp1426Ala)
8g.54628138A>GCA370981797RP1c.4256A>G (p.Asp1419Gly)
c.787+5850A>G (n.787+5850A>G)
c.4277A>G (p.Asp1426Gly)
8g.54628138A>TCA370981798RP1c.4256A>T (p.Asp1419Val)
c.787+5850A>T (n.787+5850A>T)
c.4277A>T (p.Asp1426Val)
8g.54628139T>ACA370981799RP1c.4257T>A (p.Asp1419Glu)
c.787+5851T>A (n.787+5851T>A)
c.4278T>A (p.Asp1426Glu)
8g.54628139T>CCA461099965RP1c.4257T>C (p.Asp1419=)
c.787+5851T>C (n.787+5851T>C)
c.4278T>C (p.Asp1426=)
8g.54628139T>GCA370981800RP1c.4257T>G (p.Asp1419Glu)
c.787+5851T>G (n.787+5851T>G)
c.4278T>G (p.Asp1426Glu)
8g.54628140T>ACA370981801RP1c.4258T>A (p.Phe1420Ile)
c.787+5852T>A (n.787+5852T>A)
c.4279T>A (p.Phe1427Ile)
8g.54628140T>CCA370981802RP1c.4258T>C (p.Phe1420Leu)
c.787+5852T>C (n.787+5852T>C)
c.4279T>C (p.Phe1427Leu)
8g.54628140T>GCA370981803RP1c.4258T>G (p.Phe1420Val)
c.787+5852T>G (n.787+5852T>G)
c.4279T>G (p.Phe1427Val)
8g.54628141T>ACA370981804RP1c.4259T>A (p.Phe1420Tyr)
c.787+5853T>A (n.787+5853T>A)
c.4280T>A (p.Phe1427Tyr)
8g.54628141T>CCA370981805RP1c.4259T>C (p.Phe1420Ser)
c.787+5853T>C (n.787+5853T>C)
c.4280T>C (p.Phe1427Ser)
8g.54628141T>GCA370981806RP1c.4259T>G (p.Phe1420Cys)
c.787+5853T>G (n.787+5853T>G)
c.4280T>G (p.Phe1427Cys)
8g.54628142T>ACA370981807RP1c.4260T>A (p.Phe1420Leu)
c.787+5854T>A (n.787+5854T>A)
c.4281T>A (p.Phe1427Leu)
8g.54628142T>CCA461099968RP1c.4260T>C (p.Phe1420=)
c.787+5854T>C (n.787+5854T>C)
c.4281T>C (p.Phe1427=)
8g.54628142T>GCA370981808RP1c.4260T>G (p.Phe1420Leu)
c.787+5854T>G (n.787+5854T>G)
c.4281T>G (p.Phe1427Leu)
8g.54628143G>ACA370981811RP1c.4261G>A (p.Glu1421Lys)
c.787+5855G>A (n.787+5855G>A)
c.4282G>A (p.Glu1428Lys)
 COSMIC
8g.54628143G>CCA370981810RP1c.4261G>C (p.Glu1421Gln)
c.787+5855G>C (n.787+5855G>C)
c.4282G>C (p.Glu1428Gln)
8g.54628143G=CA1785189051RP1c.4261G= (p.Glu1421=)
c.787+5855G= (n.787+5855G=)
c.4282G= (p.Glu1428=)
8g.54628143G>TCA370981809RP1c.4261G>T (p.Glu1421Ter)
c.787+5855G>T (n.787+5855G>T)
c.4282G>T (p.Glu1428Ter)
 dbSNP gnomAD v2
8g.54628144A=CA1785189052RP1c.4262A= (p.Glu1421=)
c.787+5856A= (n.787+5856A=)
c.4283A= (p.Glu1428=)
8g.54628144A>CCA4751831RP1c.4262A>C (p.Glu1421Ala)
c.787+5856A>C (n.787+5856A>C)
c.4283A>C (p.Glu1428Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54628144A>GCA370981812RP1c.4262A>G (p.Glu1421Gly)
c.787+5856A>G (n.787+5856A>G)
c.4283A>G (p.Glu1428Gly)
8g.54628144A>TCA370981813RP1c.4262A>T (p.Glu1421Val)
c.787+5856A>T (n.787+5856A>T)
c.4283A>T (p.Glu1428Val)
8g.54628145A>CCA370981814RP1c.4263A>C (p.Glu1421Asp)
c.787+5857A>C (n.787+5857A>C)
c.4284A>C (p.Glu1428Asp)
8g.54628145A>GCA461099971RP1c.4263A>G (p.Glu1421=)
c.787+5857A>G (n.787+5857A>G)
c.4284A>G (p.Glu1428=)
8g.54628145A>TCA370981815RP1c.4263A>T (p.Glu1421Asp)
c.787+5857A>T (n.787+5857A>T)
c.4284A>T (p.Glu1428Asp)
8g.54628146A>CCA370981816RP1c.4264A>C (p.Asn1422His)
c.787+5858A>C (n.787+5858A>C)
c.4285A>C (p.Asn1429His)
8g.54628146A>GCA370981817RP1c.4264A>G (p.Asn1422Asp)
c.787+5858A>G (n.787+5858A>G)
c.4285A>G (p.Asn1429Asp)
8g.54628146A>TCA370981818RP1c.4264A>T (p.Asn1422Tyr)
c.787+5858A>T (n.787+5858A>T)
c.4285A>T (p.Asn1429Tyr)
8g.54628147A>CCA370981819RP1c.4265A>C (p.Asn1422Thr)
c.787+5859A>C (n.787+5859A>C)
c.4286A>C (p.Asn1429Thr)
8g.54628147A>GCA370981820RP1c.4265A>G (p.Asn1422Ser)
c.787+5859A>G (n.787+5859A>G)
c.4286A>G (p.Asn1429Ser)
8g.54628147A>TCA370981821RP1c.4265A>T (p.Asn1422Ile)
c.787+5859A>T (n.787+5859A>T)
c.4286A>T (p.Asn1429Ile)
8g.54628148T>ACA370981822RP1c.4266T>A (p.Asn1422Lys)
c.787+5860T>A (n.787+5860T>A)
c.4287T>A (p.Asn1429Lys)
 dbSNP
8g.54628148T>CCA461099975RP1c.4266T>C (p.Asn1422=)
c.787+5860T>C (n.787+5860T>C)
c.4287T>C (p.Asn1429=)
 dbSNP gnomAD v4
8g.54628148T>GCA370981823RP1c.4266T>G (p.Asn1422Lys)
c.787+5860T>G (n.787+5860T>G)
c.4287T>G (p.Asn1429Lys)
8g.54628148T=CA1785189053RP1c.4266T= (p.Asn1422=)
c.787+5860T= (n.787+5860T=)
c.4287T= (p.Asn1429=)
8g.54628149T>ACA370981825RP1c.4267T>A (p.Cys1423Ser)
c.787+5861T>A (n.787+5861T>A)
c.4288T>A (p.Cys1430Ser)
 ClinVar
8g.54628149T>CCA370981826RP1c.4267T>C (p.Cys1423Arg)
c.787+5861T>C (n.787+5861T>C)
c.4288T>C (p.Cys1430Arg)
 dbSNP gnomAD v2
8g.54628149T>GCA370981824RP1c.4267T>G (p.Cys1423Gly)
c.787+5861T>G (n.787+5861T>G)
c.4288T>G (p.Cys1430Gly)
8g.54628149T=CA1785189054RP1c.4267T= (p.Cys1423=)
c.787+5861T= (n.787+5861T=)
c.4288T= (p.Cys1430=)
8g.54628150G>ACA4751832RP1c.4268G>A (p.Cys1423Tyr)
c.787+5862G>A (n.787+5862G>A)
c.4289G>A (p.Cys1430Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628150G>CCA370981827RP1c.4268G>C (p.Cys1423Ser)
c.787+5862G>C (n.787+5862G>C)
c.4289G>C (p.Cys1430Ser)
8g.54628150G=CA1785189055RP1c.4268G= (p.Cys1423=)
c.787+5862G= (n.787+5862G=)
c.4289G= (p.Cys1430=)
8g.54628150G>TCA370981828RP1c.4268G>T (p.Cys1423Phe)
c.787+5862G>T (n.787+5862G>T)
c.4289G>T (p.Cys1430Phe)
 ClinVar dbSNP gnomAD v4
8g.54628151T>ACA370981829RP1c.4269T>A (p.Cys1423Ter)
c.787+5863T>A (n.787+5863T>A)
c.4290T>A (p.Cys1430Ter)
 COSMIC
8g.54628151T>CCA4751833RP1c.4269T>C (p.Cys1423=)
c.787+5863T>C (n.787+5863T>C)
c.4290T>C (p.Cys1430=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54628151T>GCA370981830RP1c.4269T>G (p.Cys1423Trp)
c.787+5863T>G (n.787+5863T>G)
c.4290T>G (p.Cys1430Trp)
8g.54628151T=CA1785189056RP1c.4269T= (p.Cys1423=)
c.787+5863T= (n.787+5863T=)
c.4290T= (p.Cys1430=)
8g.54628152T>ACA370981831RP1c.4270T>A (p.Ser1424Thr)
c.787+5864T>A (n.787+5864T>A)
c.4291T>A (p.Ser1431Thr)
8g.54628152T>CCA370981833RP1c.4270T>C (p.Ser1424Pro)
c.787+5864T>C (n.787+5864T>C)
c.4291T>C (p.Ser1431Pro)
8g.54628152T>GCA370981832RP1c.4270T>G (p.Ser1424Ala)
c.787+5864T>G (n.787+5864T>G)
c.4291T>G (p.Ser1431Ala)
8g.54628153C>ACA370981834RP1c.4271C>A (p.Ser1424Ter)
c.787+5865C>A (n.787+5865C>A)
c.4292C>A (p.Ser1431Ter)
8g.54628153C=CA1785189057RP1c.4271C= (p.Ser1424=)
c.787+5865C= (n.787+5865C=)
c.4292C= (p.Ser1431=)
8g.54628153C>GCA370981835RP1c.4271C>G (p.Ser1424Ter)
c.787+5865C>G (n.787+5865C>G)
c.4292C>G (p.Ser1431Ter)
 dbSNP
8g.54628153C>TCA4751834RP1c.4271C>T (p.Ser1424Leu)
c.787+5865C>T (n.787+5865C>T)
c.4292C>T (p.Ser1431Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628154A>CCA461099982RP1c.4272A>C (p.Ser1424=)
c.787+5866A>C (n.787+5866A>C)
c.4293A>C (p.Ser1431=)
8g.54628154A>GCA461099984RP1c.4272A>G (p.Ser1424=)
c.787+5866A>G (n.787+5866A>G)
c.4293A>G (p.Ser1431=)
8g.54628154A>TCA461099985RP1c.4272A>T (p.Ser1424=)
c.787+5866A>T (n.787+5866A>T)
c.4293A>T (p.Ser1431=)
8g.54628155C>ACA370981836RP1c.4273C>A (p.Leu1425Ile)
c.787+5867C>A (n.787+5867C>A)
c.4294C>A (p.Leu1432Ile)
8g.54628155C=CA1785189058RP1c.4273C= (p.Leu1425=)
c.787+5867C= (n.787+5867C=)
c.4294C= (p.Leu1432=)
8g.54628155C>GCA370981837RP1c.4273C>G (p.Leu1425Val)
c.787+5867C>G (n.787+5867C>G)
c.4294C>G (p.Leu1432Val)
8g.54628155C>TCA461099986RP1c.4273C>T (p.Leu1425=)
c.787+5867C>T (n.787+5867C>T)
c.4294C>T (p.Leu1432=)
 dbSNP
8g.54628156T>ACA370981839RP1c.4274T>A (p.Leu1425Gln)
c.787+5868T>A (n.787+5868T>A)
c.4295T>A (p.Leu1432Gln)
8g.54628156T>CCA370981840RP1c.4274T>C (p.Leu1425Pro)
c.787+5868T>C (n.787+5868T>C)
c.4295T>C (p.Leu1432Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54628156T>GCA370981838RP1c.4274T>G (p.Leu1425Arg)
c.787+5868T>G (n.787+5868T>G)
c.4295T>G (p.Leu1432Arg)
8g.54628156T=CA1785189059RP1c.4274T= (p.Leu1425=)
c.787+5868T= (n.787+5868T=)
c.4295T= (p.Leu1432=)
8g.54628157A=CA1785189060RP1c.4275A= (p.Leu1425=)
c.787+5869A= (n.787+5869A=)
c.4296A= (p.Leu1432=)
8g.54628157A>CCA461100036RP1c.4275A>C (p.Leu1425=)
c.787+5869A>C (n.787+5869A>C)
c.4296A>C (p.Leu1432=)
8g.54628157A>GCA4751835RP1c.4275A>G (p.Leu1425=)
c.787+5869A>G (n.787+5869A>G)
c.4296A>G (p.Leu1432=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54628157A>TCA461100037RP1c.4275A>T (p.Leu1425=)
c.787+5869A>T (n.787+5869A>T)
c.4296A>T (p.Leu1432=)
8g.54628158A>CCA461100038RP1c.4276A>C (p.Arg1426=)
c.787+5870A>C (n.787+5870A>C)
c.4297A>C (p.Arg1433=)
 gnomAD v4
8g.54628158A>GCA370981842RP1c.4276A>G (p.Arg1426Gly)
c.787+5870A>G (n.787+5870A>G)
c.4297A>G (p.Arg1433Gly)
 gnomAD v4
8g.54628158A>TCA370981841RP1c.4276A>T (p.Arg1426Trp)
c.787+5870A>T (n.787+5870A>T)
c.4297A>T (p.Arg1433Trp)
8g.54628159G>ACA370981843RP1c.4277G>A (p.Arg1426Lys)
c.787+5871G>A (n.787+5871G>A)
c.4298G>A (p.Arg1433Lys)
8g.54628159G>CCA370981844RP1c.4277G>C (p.Arg1426Thr)
c.787+5871G>C (n.787+5871G>C)
c.4298G>C (p.Arg1433Thr)
8g.54628159G>TCA370981845RP1c.4277G>T (p.Arg1426Met)
c.787+5871G>T (n.787+5871G>T)
c.4298G>T (p.Arg1433Met)
8g.54628160G>ACA461100039RP1c.4278G>A (p.Arg1426=)
c.787+5872G>A (n.787+5872G>A)
c.4299G>A (p.Arg1433=)
 COSMIC
8g.54628160G>CCA370981846RP1c.4278G>C (p.Arg1426Ser)
c.787+5872G>C (n.787+5872G>C)
c.4299G>C (p.Arg1433Ser)
8g.54628160G>TCA370981847RP1c.4278G>T (p.Arg1426Ser)
c.787+5872G>T (n.787+5872G>T)
c.4299G>T (p.Arg1433Ser)
 gnomAD v4
8g.54628160_54628161insTCA645560583RP1c.4278_4279insT (p.Lys1427Ter)
c.787+5872_787+5873insT (n.787+5872_787+5873insT)
c.4299_4300insT (p.Lys1434Ter)
 COSMIC
8g.54628161A=CA1785189061RP1c.4279A= (p.Lys1427=)
c.787+5873A= (n.787+5873A=)
c.4300A= (p.Lys1434=)
8g.54628161A>CCA370981848RP1c.4279A>C (p.Lys1427Gln)
c.787+5873A>C (n.787+5873A>C)
c.4300A>C (p.Lys1434Gln)
8g.54628161A>GCA370981849RP1c.4279A>G (p.Lys1427Glu)
c.787+5873A>G (n.787+5873A>G)
c.4300A>G (p.Lys1434Glu)
 ClinVar dbSNP
8g.54628161A>TCA370981850RP1c.4279A>T (p.Lys1427Ter)
c.787+5873A>T (n.787+5873A>T)
c.4300A>T (p.Lys1434Ter)
8g.54628162A=CA1785189062RP1c.4280A= (p.Lys1427=)
c.787+5874A= (n.787+5874A=)
c.4301A= (p.Lys1434=)
8g.54628162A>CCA370981851RP1c.4280A>C (p.Lys1427Thr)
c.787+5874A>C (n.787+5874A>C)
c.4301A>C (p.Lys1434Thr)
8g.54628162A>GCA4751836RP1c.4280A>G (p.Lys1427Arg)
c.787+5874A>G (n.787+5874A>G)
c.4301A>G (p.Lys1434Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54628162A>TCA370981852RP1c.4280A>T (p.Lys1427Met)
c.787+5874A>T (n.787+5874A>T)
c.4301A>T (p.Lys1434Met)
 dbSNP
8g.54628163G>ACA4751837RP1c.4281G>A (p.Lys1427=)
c.787+5875G>A (n.787+5875G>A)
c.4302G>A (p.Lys1434=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54628163G>CCA370981853RP1c.4281G>C (p.Lys1427Asn)
c.787+5875G>C (n.787+5875G>C)
c.4302G>C (p.Lys1434Asn)
8g.54628163G=CA1785189063RP1c.4281G= (p.Lys1427=)
c.787+5875G= (n.787+5875G=)
c.4302G= (p.Lys1434=)
8g.54628163G>TCA370981854RP1c.4281G>T (p.Lys1427Asn)
c.787+5875G>T (n.787+5875G>T)
c.4302G>T (p.Lys1434Asn)
8g.54628164T>ACA370981855RP1c.4282T>A (p.Phe1428Ile)
c.787+5876T>A (n.787+5876T>A)
c.4303T>A (p.Phe1435Ile)
8g.54628164T>CCA370981856RP1c.4282T>C (p.Phe1428Leu)
c.787+5876T>C (n.787+5876T>C)
c.4303T>C (p.Phe1435Leu)
8g.54628164T>GCA370981857RP1c.4282T>G (p.Phe1428Val)
c.787+5876T>G (n.787+5876T>G)
c.4303T>G (p.Phe1435Val)
8g.54628165T>ACA370981858RP1c.4283T>A (p.Phe1428Tyr)
c.787+5877T>A (n.787+5877T>A)
c.4304T>A (p.Phe1435Tyr)
8g.54628165T>CCA370981859RP1c.4283T>C (p.Phe1428Ser)
c.787+5877T>C (n.787+5877T>C)
c.4304T>C (p.Phe1435Ser)
8g.54628165T>GCA370981860RP1c.4283T>G (p.Phe1428Cys)
c.787+5877T>G (n.787+5877T>G)
c.4304T>G (p.Phe1435Cys)
8g.54628166T>ACA370981861RP1c.4284T>A (p.Phe1428Leu)
c.787+5878T>A (n.787+5878T>A)
c.4305T>A (p.Phe1435Leu)
8g.54628166T>CCA461100048RP1c.4284T>C (p.Phe1428=)
c.787+5878T>C (n.787+5878T>C)
c.4305T>C (p.Phe1435=)
8g.54628166T>GCA370981862RP1c.4284T>G (p.Phe1428Leu)
c.787+5878T>G (n.787+5878T>G)
c.4305T>G (p.Phe1435Leu)
8g.54628167C>ACA370981863RP1c.4285C>A (p.Gln1429Lys)
c.787+5879C>A (n.787+5879C>A)
c.4306C>A (p.Gln1436Lys)
8g.54628167C>GCA370981864RP1c.4285C>G (p.Gln1429Glu)
c.787+5879C>G (n.787+5879C>G)
c.4306C>G (p.Gln1436Glu)
8g.54628167C>TCA370981865RP1c.4285C>T (p.Gln1429Ter)
c.787+5879C>T (n.787+5879C>T)
c.4306C>T (p.Gln1436Ter)
 COSMIC
8g.54628168A=CA1785189064RP1c.4286A= (p.Gln1429=)
c.787+5880A= (n.787+5880A=)
c.4307A= (p.Gln1436=)
8g.54628168A>CCA370981867RP1c.4286A>C (p.Gln1429Pro)
c.787+5880A>C (n.787+5880A>C)
c.4307A>C (p.Gln1436Pro)
 gnomAD v4
8g.54628168A>GCA177181644RP1c.4286A>G (p.Gln1429Arg)
c.787+5880A>G (n.787+5880A>G)
c.4307A>G (p.Gln1436Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.54628168A>TCA370981866RP1c.4286A>T (p.Gln1429Leu)
c.787+5880A>T (n.787+5880A>T)
c.4307A>T (p.Gln1436Leu)
8g.54628169G>ACA461100050RP1c.4287G>A (p.Gln1429=)
c.787+5881G>A (n.787+5881G>A)
c.4308G>A (p.Gln1436=)
8g.54628169G>CCA370981868RP1c.4287G>C (p.Gln1429His)
c.787+5881G>C (n.787+5881G>C)
c.4308G>C (p.Gln1436His)
8g.54628169G>TCA370981869RP1c.4287G>T (p.Gln1429His)
c.787+5881G>T (n.787+5881G>T)
c.4308G>T (p.Gln1436His)
8g.54628170G>ACA370981870RP1c.4288G>A (p.Asp1430Asn)
c.787+5882G>A (n.787+5882G>A)
c.4309G>A (p.Asp1437Asn)
 COSMIC
8g.54628170G>CCA370981871RP1c.4288G>C (p.Asp1430His)
c.787+5882G>C (n.787+5882G>C)
c.4309G>C (p.Asp1437His)
8g.54628170G>TCA370981872RP1c.4288G>T (p.Asp1430Tyr)
c.787+5882G>T (n.787+5882G>T)
c.4309G>T (p.Asp1437Tyr)
 gnomAD v4
8g.54628171A>CCA370981873RP1c.4289A>C (p.Asp1430Ala)
c.787+5883A>C (n.787+5883A>C)
c.4310A>C (p.Asp1437Ala)
8g.54628171A>GCA370981874RP1c.4289A>G (p.Asp1430Gly)
c.787+5883A>G (n.787+5883A>G)
c.4310A>G (p.Asp1437Gly)
8g.54628171A>TCA370981875RP1c.4289A>T (p.Asp1430Val)
c.787+5883A>T (n.787+5883A>T)
c.4310A>T (p.Asp1437Val)
8g.54628172T>ACA370981876RP1c.4290T>A (p.Asp1430Glu)
c.787+5884T>A (n.787+5884T>A)
c.4311T>A (p.Asp1437Glu)
8g.54628172T>CCA461100055RP1c.4290T>C (p.Asp1430=)
c.787+5884T>C (n.787+5884T>C)
c.4311T>C (p.Asp1437=)
8g.54628172T>GCA370981877RP1c.4290T>G (p.Asp1430Glu)
c.787+5884T>G (n.787+5884T>G)
c.4311T>G (p.Asp1437Glu)
8g.54628173G>ACA370981878RP1c.4291G>A (p.Glu1431Lys)
c.787+5885G>A (n.787+5885G>A)
c.4312G>A (p.Glu1438Lys)
 COSMIC
8g.54628173G>CCA370981879RP1c.4291G>C (p.Glu1431Gln)
c.787+5885G>C (n.787+5885G>C)
c.4312G>C (p.Glu1438Gln)
8g.54628173G>TCA370981880RP1c.4291G>T (p.Glu1431Ter)
c.787+5885G>T (n.787+5885G>T)
c.4312G>T (p.Glu1438Ter)
8g.54628174A>CCA370981883RP1c.4292A>C (p.Glu1431Ala)
c.787+5886A>C (n.787+5886A>C)
c.4313A>C (p.Glu1438Ala)
8g.54628174A>GCA370981882RP1c.4292A>G (p.Glu1431Gly)
c.787+5886A>G (n.787+5886A>G)
c.4313A>G (p.Glu1438Gly)
8g.54628174A>TCA370981881RP1c.4292A>T (p.Glu1431Val)
c.787+5886A>T (n.787+5886A>T)
c.4313A>T (p.Glu1438Val)
8g.54628177dupCA2579168463RP1c.4295dup (p.Asn1432LysfsTer7)
c.787+5889dup (n.787+5889dup)
c.4316dup (p.Asn1439LysfsTer7)
8g.54628175A>CCA370981884RP1c.4293A>C (p.Glu1431Asp)
c.787+5887A>C (n.787+5887A>C)
c.4314A>C (p.Glu1438Asp)
8g.54628175A>GCA461100060RP1c.4293A>G (p.Glu1431=)
c.787+5887A>G (n.787+5887A>G)
c.4314A>G (p.Glu1438=)
8g.54628175A>TCA370981885RP1c.4293A>T (p.Glu1431Asp)
c.787+5887A>T (n.787+5887A>T)
c.4314A>T (p.Glu1438Asp)
8g.54628176A=CA1785189065RP1c.4294A= (p.Asn1432=)
c.787+5888A= (n.787+5888A=)
c.4315A= (p.Asn1439=)
8g.54628176A>CCA370981886RP1c.4294A>C (p.Asn1432His)
c.787+5888A>C (n.787+5888A>C)
c.4315A>C (p.Asn1439His)
8g.54628176A>GCA4751838RP1c.4294A>G (p.Asn1432Asp)
c.787+5888A>G (n.787+5888A>G)
c.4315A>G (p.Asn1439Asp)
 dbSNP ExAC
8g.54628176A>TCA370981887RP1c.4294A>T (p.Asn1432Tyr)
c.787+5888A>T (n.787+5888A>T)
c.4315A>T (p.Asn1439Tyr)
8g.54628177A=CA1785189066RP1c.4295A= (p.Asn1432=)
c.787+5889A= (n.787+5889A=)
c.4316A= (p.Asn1439=)
8g.54628177A>CCA370981888RP1c.4295A>C (p.Asn1432Thr)
c.787+5889A>C (n.787+5889A>C)
c.4316A>C (p.Asn1439Thr)
8g.54628177A>GCA4751839RP1c.4295A>G (p.Asn1432Ser)
c.787+5889A>G (n.787+5889A>G)
c.4316A>G (p.Asn1439Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54628177A>TCA370981889RP1c.4295A>T (p.Asn1432Ile)
c.787+5889A>T (n.787+5889A>T)
c.4316A>T (p.Asn1439Ile)
8g.54628178T>ACA4751840RP1c.4296T>A (p.Asn1432Lys)
c.787+5890T>A (n.787+5890T>A)
c.4317T>A (p.Asn1439Lys)
 dbSNP ExAC gnomAD v3 gnomAD v4
8g.54628178T>CCA461100068RP1c.4296T>C (p.Asn1432=)
c.787+5890T>C (n.787+5890T>C)
c.4317T>C (p.Asn1439=)
8g.54628178T>GCA370981890RP1c.4296T>G (p.Asn1432Lys)
c.787+5890T>G (n.787+5890T>G)
c.4317T>G (p.Asn1439Lys)
8g.54628178T=CA1785189067RP1c.4296T= (p.Asn1432=)
c.787+5890T= (n.787+5890T=)
c.4317T= (p.Asn1439=)
8g.54628179G>ACA370981891RP1c.4297G>A (p.Ala1433Thr)
c.787+5891G>A (n.787+5891G>A)
c.4318G>A (p.Ala1440Thr)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.54628179G>CCA370981892RP1c.4297G>C (p.Ala1433Pro)
c.787+5891G>C (n.787+5891G>C)
c.4318G>C (p.Ala1440Pro)
8g.54628179G=CA1785189068RP1c.4297G= (p.Ala1433=)
c.787+5891G= (n.787+5891G=)
c.4318G= (p.Ala1440=)
8g.54628179G>TCA370981893RP1c.4297G>T (p.Ala1433Ser)
c.787+5891G>T (n.787+5891G>T)
c.4318G>T (p.Ala1440Ser)
 gnomAD v4
8g.54628180C>ACA370981894RP1c.4298C>A (p.Ala1433Glu)
c.787+5892C>A (n.787+5892C>A)
c.4319C>A (p.Ala1440Glu)
8g.54628180C=CA1785189069RP1c.4298C= (p.Ala1433=)
c.787+5892C= (n.787+5892C=)
c.4319C= (p.Ala1440=)
8g.54628180C>GCA370981896RP1c.4298C>G (p.Ala1433Gly)
c.787+5892C>G (n.787+5892C>G)
c.4319C>G (p.Ala1440Gly)
8g.54628180C>TCA370981895RP1c.4298C>T (p.Ala1433Val)
c.787+5892C>T (n.787+5892C>T)
c.4319C>T (p.Ala1440Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54628181A=CA1785189070RP1c.4299A= (p.Ala1433=)
c.787+5893A= (n.787+5893A=)
c.4320A= (p.Ala1440=)
8g.54628181A>CCA461100074RP1c.4299A>C (p.Ala1433=)
c.787+5893A>C (n.787+5893A>C)
c.4320A>C (p.Ala1440=)
8g.54628181A>GCA245310RP1c.4299A>G (p.Ala1433=)
c.787+5893A>G (n.787+5893A>G)
c.4320A>G (p.Ala1440=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54628181A>TCA461100072RP1c.4299A>T (p.Ala1433=)
c.787+5893A>T (n.787+5893A>T)
c.4320A>T (p.Ala1440=)
8g.54628182T>ACA370981898RP1c.4300T>A (p.Tyr1434Asn)
c.787+5894T>A (n.787+5894T>A)
c.4321T>A (p.Tyr1441Asn)
8g.54628182T>CCA370981897RP1c.4300T>C (p.Tyr1434His)
c.787+5894T>C (n.787+5894T>C)
c.4321T>C (p.Tyr1441His)
 gnomAD v4
8g.54628182T>GCA370981899RP1c.4300T>G (p.Tyr1434Asp)
c.787+5894T>G (n.787+5894T>G)
c.4321T>G (p.Tyr1441Asp)
8g.54628183A>CCA370981900RP1c.4301A>C (p.Tyr1434Ser)
c.787+5895A>C (n.787+5895A>C)
c.4322A>C (p.Tyr1441Ser)
8g.54628183A>GCA370981901RP1c.4301A>G (p.Tyr1434Cys)
c.787+5895A>G (n.787+5895A>G)
c.4322A>G (p.Tyr1441Cys)
 gnomAD v4
8g.54628183A>TCA370981902RP1c.4301A>T (p.Tyr1434Phe)
c.787+5895A>T (n.787+5895A>T)
c.4322A>T (p.Tyr1441Phe)
8g.54628184T>ACA370981903RP1c.4302T>A (p.Tyr1434Ter)
c.787+5896T>A (n.787+5896T>A)
c.4323T>A (p.Tyr1441Ter)
8g.54628184T>CCA461100079RP1c.4302T>C (p.Tyr1434=)
c.787+5896T>C (n.787+5896T>C)
c.4323T>C (p.Tyr1441=)
 dbSNP gnomAD v2 gnomAD v4
8g.54628184T>GCA370981904RP1c.4302T>G (p.Tyr1434Ter)
c.787+5896T>G (n.787+5896T>G)
c.4323T>G (p.Tyr1441Ter)
8g.54628184T=CA1785189071RP1c.4302T= (p.Tyr1434=)
c.787+5896T= (n.787+5896T=)
c.4323T= (p.Tyr1441=)
8g.54628185A=CA1785189072RP1c.4303A= (p.Thr1435=)
c.787+5897A= (n.787+5897A=)
c.4324A= (p.Thr1442=)
8g.54628185A>CCA370981905RP1c.4303A>C (p.Thr1435Pro)
c.787+5897A>C (n.787+5897A>C)
c.4324A>C (p.Thr1442Pro)
8g.54628185A>GCA177181668RP1c.4303A>G (p.Thr1435Ala)
c.787+5897A>G (n.787+5897A>G)
c.4324A>G (p.Thr1442Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.54628185A>TCA370981906RP1c.4303A>T (p.Thr1435Ser)
c.787+5897A>T (n.787+5897A>T)
c.4324A>T (p.Thr1442Ser)
8g.54628185_54628189delinsACTTCCA1785189073RP1c.4303_4307delinsACTTC (p.Thr1435=)
c.787+5897_787+5901delinsACTTC (n.787+5897_787+5901delinsACTTC)
c.4324_4328delinsACTTC (p.Thr1442=)
8g.54628186C>ACA370981907RP1c.4304C>A (p.Thr1435Asn)
c.787+5898C>A (n.787+5898C>A)
c.4325C>A (p.Thr1442Asn)
8g.54628186C=CA1785189075RP1c.4304C= (p.Thr1435=)
c.787+5898C= (n.787+5898C=)
c.4325C= (p.Thr1442=)
8g.54628186C>GCA370981908RP1c.4304C>G (p.Thr1435Ser)
c.787+5898C>G (n.787+5898C>G)
c.4325C>G (p.Thr1442Ser)
8g.54628186C>TCA370981909RP1c.4304C>T (p.Thr1435Ile)
c.787+5898C>T (n.787+5898C>T)
c.4325C>T (p.Thr1442Ile)
 dbSNP gnomAD v4
8g.54628189_54628192delCA1785189074RP1c.4307_4310del (p.Ser1436LeufsTer15)
c.787+5901_787+5904del (n.787+5901_787+5904del)
c.4328_4331del (p.Ser1443LeufsTer15)
 dbSNP
8g.54628187T>ACA461100086RP1c.4305T>A (p.Thr1435=)
c.787+5899T>A (n.787+5899T>A)
c.4326T>A (p.Thr1442=)
8g.54628187T>CCA461100089RP1c.4305T>C (p.Thr1435=)
c.787+5899T>C (n.787+5899T>C)
c.4326T>C (p.Thr1442=)
8g.54628187T>GCA461100088RP1c.4305T>G (p.Thr1435=)
c.787+5899T>G (n.787+5899T>G)
c.4326T>G (p.Thr1442=)
 gnomAD v4
8g.54628188delCA2695209308RP1c.4306del (p.Ser1436ProfsTer16)
c.787+5900del (n.787+5900del)
c.4327del (p.Ser1443ProfsTer16)
8g.54628188T>ACA370981912RP1c.4306T>A (p.Ser1436Thr)
c.787+5900T>A (n.787+5900T>A)
c.4327T>A (p.Ser1443Thr)
8g.54628188T>CCA370981911RP1c.4306T>C (p.Ser1436Pro)
c.787+5900T>C (n.787+5900T>C)
c.4327T>C (p.Ser1443Pro)
8g.54628188T>GCA370981910RP1c.4306T>G (p.Ser1436Ala)
c.787+5900T>G (n.787+5900T>G)
c.4327T>G (p.Ser1443Ala)
8g.54628189C>ACA370981913RP1c.4307C>A (p.Ser1436Tyr)
c.787+5901C>A (n.787+5901C>A)
c.4328C>A (p.Ser1443Tyr)
8g.54628189C=CA1785189076RP1c.4307C= (p.Ser1436=)
c.787+5901C= (n.787+5901C=)
c.4328C= (p.Ser1443=)
8g.54628189C>GCA370981914RP1c.4307C>G (p.Ser1436Cys)
c.787+5901C>G (n.787+5901C>G)
c.4328C>G (p.Ser1443Cys)
8g.54628189C>TCA4751841RP1c.4307C>T (p.Ser1436Phe)
c.787+5901C>T (n.787+5901C>T)
c.4328C>T (p.Ser1443Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.54628189_54628190delinsTTCA645560584RP1c.4307_4308delinsTT (p.Ser1436Phe)
c.787+5901_787+5902delinsTT (n.787+5901_787+5902delinsTT)
c.4328_4329delinsTT (p.Ser1443Phe)
 COSMIC
8g.54628190C>ACA461100095RP1c.4308C>A (p.Ser1436=)
c.787+5902C>A (n.787+5902C>A)
c.4329C>A (p.Ser1443=)
8g.54628190C=CA1785189077RP1c.4308C= (p.Ser1436=)
c.787+5902C= (n.787+5902C=)
c.4329C= (p.Ser1443=)
8g.54628190C>GCA461100096RP1c.4308C>G (p.Ser1436=)
c.787+5902C>G (n.787+5902C>G)
c.4329C>G (p.Ser1443=)
8g.54628190C>TCA4751842RP1c.4308C>T (p.Ser1436=)
c.787+5902C>T (n.787+5902C>T)
c.4329C>T (p.Ser1443=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54628191T>ACA370981915RP1c.4309T>A (p.Phe1437Ile)
c.787+5903T>A (n.787+5903T>A)
c.4330T>A (p.Phe1444Ile)
8g.54628191T>CCA370981916RP1c.4309T>C (p.Phe1437Leu)
c.787+5903T>C (n.787+5903T>C)
c.4330T>C (p.Phe1444Leu)
 gnomAD v4
8g.54628191T>GCA370981917RP1c.4309T>G (p.Phe1437Val)
c.787+5903T>G (n.787+5903T>G)
c.4330T>G (p.Phe1444Val)
8g.54628192T>ACA370981918RP1c.4310T>A (p.Phe1437Tyr)
c.787+5904T>A (n.787+5904T>A)
c.4331T>A (p.Phe1444Tyr)
8g.54628192T>CCA370981919RP1c.4310T>C (p.Phe1437Ser)
c.787+5904T>C (n.787+5904T>C)
c.4331T>C (p.Phe1444Ser)
8g.54628192T>GCA370981920RP1c.4310T>G (p.Phe1437Cys)
c.787+5904T>G (n.787+5904T>G)
c.4331T>G (p.Phe1444Cys)
8g.54628193T>ACA370981921RP1c.4311T>A (p.Phe1437Leu)
c.787+5905T>A (n.787+5905T>A)
c.4332T>A (p.Phe1444Leu)
8g.54628193T>CCA461100103RP1c.4311T>C (p.Phe1437=)
c.787+5905T>C (n.787+5905T>C)
c.4332T>C (p.Phe1444=)
8g.54628193T>GCA370981922RP1c.4311T>G (p.Phe1437Leu)
c.787+5905T>G (n.787+5905T>G)
c.4332T>G (p.Phe1444Leu)
8g.54628194G>ACA370981924RP1c.4312G>A (p.Asp1438Asn)
c.787+5906G>A (n.787+5906G>A)
c.4333G>A (p.Asp1445Asn)
 dbSNP gnomAD v4
8g.54628194G>CCA370981925RP1c.4312G>C (p.Asp1438His)
c.787+5906G>C (n.787+5906G>C)
c.4333G>C (p.Asp1445His)
8g.54628194G=CA1785189078RP1c.4312G= (p.Asp1438=)
c.787+5906G= (n.787+5906G=)
c.4333G= (p.Asp1445=)
8g.54628194G>TCA370981923RP1c.4312G>T (p.Asp1438Tyr)
c.787+5906G>T (n.787+5906G>T)
c.4333G>T (p.Asp1445Tyr)
8g.54628195A=CA1785189079RP1c.4313A= (p.Asp1438=)
c.787+5907A= (n.787+5907A=)
c.4334A= (p.Asp1445=)
8g.54628195A>CCA4751843RP1c.4313A>C (p.Asp1438Ala)
c.787+5907A>C (n.787+5907A>C)
c.4334A>C (p.Asp1445Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54628195A>GCA370981926RP1c.4313A>G (p.Asp1438Gly)
c.787+5907A>G (n.787+5907A>G)
c.4334A>G (p.Asp1445Gly)
8g.54628195A>TCA370981927RP1c.4313A>T (p.Asp1438Val)
c.787+5907A>T (n.787+5907A>T)
c.4334A>T (p.Asp1445Val)
8g.54628196T>ACA370981928RP1c.4314T>A (p.Asp1438Glu)
c.787+5908T>A (n.787+5908T>A)
c.4335T>A (p.Asp1445Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.54628196T>CCA461100108RP1c.4314T>C (p.Asp1438=)
c.787+5908T>C (n.787+5908T>C)
c.4335T>C (p.Asp1445=)
8g.54628196T>GCA370981929RP1c.4314T>G (p.Asp1438Glu)
c.787+5908T>G (n.787+5908T>G)
c.4335T>G (p.Asp1445Glu)
8g.54628196T=CA1785189080RP1c.4314T= (p.Asp1438=)
c.787+5908T= (n.787+5908T=)
c.4335T= (p.Asp1445=)
8g.54628197A=CA1785189081RP1c.4315A= (p.Met1439=)
c.787+5909A= (n.787+5909A=)
c.4336A= (p.Met1446=)
8g.54628197A>CCA370981932RP1c.4315A>C (p.Met1439Leu)
c.787+5909A>C (n.787+5909A>C)
c.4336A>C (p.Met1446Leu)
8g.54628197A>GCA370981931RP1c.4315A>G (p.Met1439Val)
c.787+5909A>G (n.787+5909A>G)
c.4336A>G (p.Met1446Val)
 dbSNP gnomAD v4
8g.54628197A>TCA370981930RP1c.4315A>T (p.Met1439Leu)
c.787+5909A>T (n.787+5909A>T)
c.4336A>T (p.Met1446Leu)

Number of alleles fetched