Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.44377679_44377681delCA2638216557ITGA2Bc.2187+19_2187+21del (n.2187+19_2187+21del)
c.1618+19_1618+21del
n.982+19_982+21del
 gnomAD v4
17g.44377678C=CA2261366855ITGA2Bc.2187+20G= (n.2187+20G=)
c.1618+20G=
n.982+20G=
17g.44377678C>GCA2580094049ITGA2Bc.2187+20G>C (n.2187+20G>C)
c.1618+20G>C
n.982+20G>C
 ClinVar
17g.44377678C>TCA626120491ITGA2Bc.2187+20G>A (n.2187+20G>A)
c.1618+20G>A
n.982+20G>A
 dbSNP gnomAD v2 gnomAD v4
17g.44377679delCA2638216558ITGA2Bc.2187+20del (n.2187+20del)
c.1618+20del
n.982+20del
 gnomAD v4
17g.44377680A>CCA2576291240ITGA2Bc.2187+18T>G (n.2187+18T>G)
c.1618+18T>G
n.982+18T>G
 gnomAD v4
17g.44377681C=CA2261366856ITGA2Bc.2187+17G= (n.2187+17G=)
c.1618+17G=
n.982+17G=
17g.44377681C>GCA2638216561ITGA2Bc.2187+17G>C (n.2187+17G>C)
c.1618+17G>C
n.982+17G>C
 gnomAD v4
17g.44377681C>TCA8602800ITGA2Bc.2187+17G>A (n.2187+17G>A)
c.1618+17G>A
n.982+17G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44377682G>ACA8602801ITGA2Bc.2187+16C>T (n.2187+16C>T)
c.1618+16C>T
n.982+16C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44377682G=CA2261366857ITGA2Bc.2187+16C= (n.2187+16C=)
c.1618+16C=
n.982+16C=
17g.44377682G>TCA2576291241ITGA2Bc.2187+16C>A (n.2187+16C>A)
c.1618+16C>A
n.982+16C>A
 gnomAD v4
17g.44377683delCA2638216566ITGA2Bc.2187+15del (n.2187+15del)
c.1618+15del
n.982+15del
 gnomAD v4
17g.44377684C=CA2261366858ITGA2Bc.2187+14G= (n.2187+14G=)
c.1618+14G=
n.982+14G=
17g.44377684C>TCA983996301ITGA2Bc.2187+14G>A (n.2187+14G>A)
c.1618+14G>A
n.982+14G>A
 dbSNP gnomAD v3 gnomAD v4
17g.44377686delCA2576291243ITGA2Bc.2187+14del (n.2187+14del)
c.1618+14del
n.982+14del
 gnomAD v4
17g.44377685C>TCA2638216569ITGA2Bc.2187+13G>A (n.2187+13G>A)
c.1618+13G>A
n.982+13G>A
 dbSNP gnomAD v4
17g.44377686C>TCA2638216571ITGA2Bc.2187+12G>A (n.2187+12G>A)
c.1618+12G>A
n.982+12G>A
 gnomAD v4
17g.44377687A>TCA2576291244ITGA2Bc.2187+11T>A (n.2187+11T>A)
c.1618+11T>A
n.982+11T>A
17g.44377688G>ACA2638216573ITGA2Bc.2187+10C>T (n.2187+10C>T)
c.1618+10C>T
n.982+10C>T
 gnomAD v4
17g.44377689C>TCA2638216574ITGA2Bc.2187+9G>A (n.2187+9G>A)
c.1618+9G>A
n.982+9G>A
 gnomAD v4
17g.44377689_44377690insTTTTTTCA983996307ITGA2Bc.2187+8_2187+9insAAAAAA (n.2187+8_2187+9insAAAAAA)
c.1618+8_1618+9insAAAAAA
n.982+8_982+9insAAAAAA
 gnomAD v3 gnomAD v4
17g.44377690_44377691insATGATACGCA983996312ITGA2Bc.2187+7_2187+8insCGTATCAT (n.2187+7_2187+8insCGTATCAT)
c.1618+7_1618+8insCGTATCAT
n.982+7_982+8insCGTATCAT
 gnomAD v3 gnomAD v4
17g.44377691G>ACA2638216575ITGA2Bc.2187+7C>T (n.2187+7C>T)
c.1618+7C>T
n.982+7C>T
 gnomAD v4
17g.44377692C>ACA8602802ITGA2Bc.2187+6G>T (n.2187+6G>T)
c.1618+6G>T
n.982+6G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44377692C=CA2261366859ITGA2Bc.2187+6G= (n.2187+6G=)
c.1618+6G=
n.982+6G=
17g.44377692C>TCA2261366860ITGA2Bc.2187+6G>A (n.2187+6G>A)
c.1618+6G>A
n.982+6G>A
 dbSNP gnomAD v4
17g.44377692_44377693insGACA983996322ITGA2Bc.2187+5_2187+6insTC (n.2187+5_2187+6insTC)
c.1618+5_1618+6insTC
n.982+5_982+6insTC
 gnomAD v3 gnomAD v4
17g.44377693C>ACA2570179317ITGA2Bc.2187+5G>T (n.2187+5G>T)
c.1618+5G>T
n.982+5G>T
17g.44377693C>GCA2638216578ITGA2Bc.2187+5G>C (n.2187+5G>C)
c.1618+5G>C
n.982+5G>C
 gnomAD v4
17g.44377694delCA983996325ITGA2Bc.2187+4del (n.2187+4del)
c.1618+4del
n.982+4del
 gnomAD v3 gnomAD v4
17g.44377694T>CCA2638216580ITGA2Bc.2187+4A>G (n.2187+4A>G)
c.1618+4A>G
n.982+4A>G
 gnomAD v4
17g.44377695C>TCA2638216581ITGA2Bc.2187+3G>A (n.2187+3G>A)
c.1618+3G>A
n.982+3G>A
 gnomAD v4
17g.44377696A>CCA399798776ITGA2Bc.2187+2T>G (n.2187+2T>G)
c.1618+2T>G
n.982+2T>G
17g.44377696A>GCA399798779ITGA2Bc.2187+2T>C (n.2187+2T>C)
c.1618+2T>C
n.982+2T>C
17g.44377696A>TCA399798781ITGA2Bc.2187+2T>A (n.2187+2T>A)
c.1618+2T>A
n.982+2T>A
17g.44377697C>ACA399798789ITGA2Bc.2187+1G>T (n.2187+1G>T)
c.1618+1G>T
n.982+1G>T
17g.44377697C>GCA399798787ITGA2Bc.2187+1G>C (n.2187+1G>C)
c.1618+1G>C
n.982+1G>C
17g.44377697C>TCA399798786ITGA2Bc.2187+1G>A (n.2187+1G>A)
c.1618+1G>A
n.982+1G>A
 COSMIC
17g.44377698C>ACA399798793ITGA2Bc.2187G>T (p.Gln729His)
c.1618G>T
n.982G>T
17g.44377698C>GCA399798796ITGA2Bc.2187G>C (p.Gln729His)
c.1618G>C
n.982G>C
17g.44377698C>TCA500267904ITGA2Bc.2187G>A (p.Gln729=)
c.1618G>A
n.982G>A
 gnomAD v4
17g.44377699delCA983996343ITGA2Bc.2186del (p.Gln729ArgfsTer2)
c.1617del
n.981del
 gnomAD v3 gnomAD v4
17g.44377699T>ACA399798800ITGA2Bc.2186A>T (p.Gln729Leu)
c.1617A>T
n.981A>T
17g.44377699T>CCA399798802ITGA2Bc.2186A>G (p.Gln729Arg)
c.1617A>G
n.981A>G
 gnomAD v4
17g.44377699T>GCA399798806ITGA2Bc.2186A>C (p.Gln729Pro)
c.1617A>C
n.981A>C
17g.44377700G>ACA399798810ITGA2Bc.2185C>T (p.Gln729Ter)
c.1616C>T
n.980C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44377700G>CCA399798811ITGA2Bc.2185C>G (p.Gln729Glu)
c.1616C>G
n.980C>G
17g.44377700G=CA2261366861ITGA2Bc.2185C= (p.Gln729=)
c.1616C=
n.980C=
17g.44377700G>TCA399798815ITGA2Bc.2185C>A (p.Gln729Lys)
c.1616C>A
n.980C>A
 gnomAD v4
17g.44377701G>ACA290948357ITGA2Bc.2184C>T (p.Ala728=)
c.1615C>T
n.979C>T
 dbSNP gnomAD v3 gnomAD v4
17g.44377701G>CCA500267920ITGA2Bc.2184C>G (p.Ala728=)
c.1615C>G
n.979C>G
17g.44377701G=CA2261366862ITGA2Bc.2184C= (p.Ala728=)
c.1615C=
n.979C=
17g.44377701G>TCA500267922ITGA2Bc.2184C>A (p.Ala728=)
c.1615C>A
n.979C>A
17g.44377702G>ACA8602803ITGA2Bc.2183C>T (p.Ala728Val)
c.1614C>T
n.978C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.44377702G>CCA399798821ITGA2Bc.2183C>G (p.Ala728Gly)
c.1614C>G
n.978C>G
17g.44377702G=CA2261366863ITGA2Bc.2183C= (p.Ala728=)
c.1614C=
n.978C=
17g.44377702G>TCA399798823ITGA2Bc.2183C>A (p.Ala728Asp)
c.1614C>A
n.978C>A
17g.44377702_44377703delinsTACA645584248ITGA2Bc.2182_2183delinsTA (p.Ala728Tyr)
c.1613_1614delinsTA
n.977_978delinsTA
 COSMIC
17g.44377703C>ACA399798826ITGA2Bc.2182G>T (p.Ala728Ser)
c.1613G>T
n.977G>T
 gnomAD v4
17g.44377703C=CA2261366864ITGA2Bc.2182G= (p.Ala728=)
c.1613G=
n.977G=
17g.44377703C>GCA399798827ITGA2Bc.2182G>C (p.Ala728Pro)
c.1613G>C
n.977G>C
17g.44377703C>TCA290948359ITGA2Bc.2182G>A (p.Ala728Thr)
c.1613G>A
n.977G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44377703_44377707delCA983996354ITGA2Bc.2178_2182del (p.Lys726AsnfsTer?)
c.1609_1613del
n.973_977del
 gnomAD v3 gnomAD v4
17g.44377704G>ACA8602804ITGA2Bc.2181C>T (p.Asn727=)
c.1612C>T
n.976C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44377704G>CCA399798838ITGA2Bc.2181C>G (p.Asn727Lys)
c.1612C>G
n.976C>G
17g.44377704G=CA2261366865ITGA2Bc.2181C= (p.Asn727=)
c.1612C=
n.976C=
17g.44377704G>TCA399798833ITGA2Bc.2181C>A (p.Asn727Lys)
c.1612C>A
n.976C>A
17g.44377704_44377707delinsGTTCCA2261366866ITGA2Bc.2178_2181delinsGAAC (p.Lys726=)
c.1609_1612delinsGAAC
n.973_976delinsGAAC
17g.44377705T>ACA399798842ITGA2Bc.2180A>T (p.Asn727Ile)
c.1611A>T
n.975A>T
17g.44377705T>CCA399798843ITGA2Bc.2180A>G (p.Asn727Ser)
c.1611A>G
n.975A>G
17g.44377705T>GCA399798845ITGA2Bc.2180A>C (p.Asn727Thr)
c.1611A>C
n.975A>C
17g.44377711_44377713delCA2261366867ITGA2Bc.2178_2180del (p.Lys726del)
c.1609_1611del
n.973_975del
 ClinVar dbSNP gnomAD v4
17g.44377706T>ACA399798848ITGA2Bc.2179A>T (p.Asn727Tyr)
c.1610A>T
n.974A>T
17g.44377706T>CCA8602805ITGA2Bc.2179A>G (p.Asn727Asp)
c.1610A>G
n.974A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44377706T>GCA399798851ITGA2Bc.2179A>C (p.Asn727His)
c.1610A>C
n.974A>C
17g.44377706T=CA2261366868ITGA2Bc.2179A= (p.Asn727=)
c.1610A=
n.974A=
17g.44377707C>ACA399798856ITGA2Bc.2178G>T (p.Lys726Asn)
c.1609G>T
n.973G>T
17g.44377707C=CA2261366869ITGA2Bc.2178G= (p.Lys726=)
c.1609G=
n.973G=
17g.44377707C>GCA8602806ITGA2Bc.2178G>C (p.Lys726Asn)
c.1609G>C
n.973G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44377707C>TCA500267947ITGA2Bc.2178G>A (p.Lys726=)
c.1609G>A
n.973G>A
17g.44377708T>ACA399798861ITGA2Bc.2177A>T (p.Lys726Met)
c.1608A>T
n.972A>T
 gnomAD v3 gnomAD v4
17g.44377708T>CCA399798863ITGA2Bc.2177A>G (p.Lys726Arg)
c.1608A>G
n.972A>G
17g.44377708T>GCA399798866ITGA2Bc.2177A>C (p.Lys726Thr)
c.1608A>C
n.972A>C
17g.44377709T>ACA399798867ITGA2Bc.2176A>T (p.Lys726Ter)
c.1607A>T
n.971A>T
 ClinVar dbSNP gnomAD v4
17g.44377709T>CCA399798868ITGA2Bc.2176A>G (p.Lys726Glu)
c.1607A>G
n.971A>G
17g.44377709T>GCA399798869ITGA2Bc.2176A>C (p.Lys726Gln)
c.1607A>C
n.971A>C
17g.44377709T=CA2261366870ITGA2Bc.2176A= (p.Lys726=)
c.1607A=
n.971A=
17g.44377710C>ACA399798871ITGA2Bc.2175G>T (p.Lys725Asn)
c.1606G>T
n.970G>T
17g.44377710C=CA2261366871ITGA2Bc.2175G= (p.Lys725=)
c.1606G=
n.970G=
17g.44377710C>GCA399798873ITGA2Bc.2175G>C (p.Lys725Asn)
c.1606G>C
n.970G>C
 dbSNP gnomAD v2 gnomAD v4
17g.44377710C>TCA500267962ITGA2Bc.2175G>A (p.Lys725=)
c.1606G>A
n.970G>A
 dbSNP
17g.44377711T>ACA399798875ITGA2Bc.2174A>T (p.Lys725Met)
c.1605A>T
n.969A>T
17g.44377711T>CCA399798877ITGA2Bc.2174A>G (p.Lys725Arg)
c.1605A>G
n.969A>G
17g.44377711T>GCA399798880ITGA2Bc.2174A>C (p.Lys725Thr)
c.1605A>C
n.969A>C
17g.44377712delCA2573153936ITGA2Bc.2174del (p.Lys725ArgfsTer6)
c.1605del
n.969del
 ClinVar dbSNP
17g.44377712T>ACA399798883ITGA2Bc.2173A>T (p.Lys725Ter)
c.1604A>T
n.968A>T
 gnomAD v3 gnomAD v4
17g.44377712T>CCA399798885ITGA2Bc.2173A>G (p.Lys725Glu)
c.1604A>G
n.968A>G
17g.44377712T>GCA399798887ITGA2Bc.2173A>C (p.Lys725Gln)
c.1604A>C
n.968A>C
17g.44377713C>ACA399798890ITGA2Bc.2172G>T (p.Met724Ile)
c.1603G>T
n.967G>T
17g.44377713C>GCA399798891ITGA2Bc.2172G>C (p.Met724Ile)
c.1603G>C
n.967G>C
17g.44377713C>TCA399798895ITGA2Bc.2172G>A (p.Met724Ile)
c.1603G>A
n.967G>A
 ClinVar dbSNP
17g.44377714A=CA2261366872ITGA2Bc.2171T= (p.Met724=)
c.1602T=
n.966T=
17g.44377714A>CCA399798897ITGA2Bc.2171T>G (p.Met724Arg)
c.1602T>G
n.966T>G
17g.44377714A>GCA399798899ITGA2Bc.2171T>C (p.Met724Thr)
c.1602T>C
n.966T>C
17g.44377714A>TCA399798901ITGA2Bc.2171T>A (p.Met724Lys)
c.1602T>A
n.966T>A
 dbSNP
17g.44377715T>ACA399798904ITGA2Bc.2170A>T (p.Met724Leu)
c.1601A>T
n.965A>T
17g.44377715T>CCA399798908ITGA2Bc.2170A>G (p.Met724Val)
c.1601A>G
n.965A>G
17g.44377715T>GCA399798906ITGA2Bc.2170A>C (p.Met724Leu)
c.1601A>C
n.965A>C
17g.44377715_44377723delCA983996367ITGA2Bc.2162_2170del (p.Gly721_Met724delinsVal)
c.1593_1601del
n.957_965del
 gnomAD v3 gnomAD v4
17g.44377716G>ACA500267995ITGA2Bc.2169C>T (p.Pro723=)
c.1600C>T
n.964C>T
17g.44377716G>CCA500267998ITGA2Bc.2169C>G (p.Pro723=)
c.1600C>G
n.964C>G
17g.44377716G>TCA500268000ITGA2Bc.2169C>A (p.Pro723=)
c.1600C>A
n.964C>A
 gnomAD v4
17g.44377719dupCA2695238902ITGA2Bc.2169dup (p.Met724HisfsTer?)
c.1600dup
n.964dup
17g.44377719delCA2573153938ITGA2Bc.2169del (p.Met724Ter)
c.1600del
n.964del
 ClinVar dbSNP
17g.44377717G>ACA399798911ITGA2Bc.2168C>T (p.Pro723Leu)
c.1599C>T
n.963C>T
17g.44377717G>CCA399798914ITGA2Bc.2168C>G (p.Pro723Arg)
c.1599C>G
n.963C>G
17g.44377717G>TCA399798912ITGA2Bc.2168C>A (p.Pro723His)
c.1599C>A
n.963C>A
17g.44377718G>ACA8602807ITGA2Bc.2167C>T (p.Pro723Ser)
c.1598C>T
n.962C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44377718G>CCA399798917ITGA2Bc.2167C>G (p.Pro723Ala)
c.1598C>G
n.962C>G
 dbSNP
17g.44377718G=CA2261366873ITGA2Bc.2167C= (p.Pro723=)
c.1598C=
n.962C=
17g.44377718G>TCA399798918ITGA2Bc.2167C>A (p.Pro723Thr)
c.1598C>A
n.962C>A
17g.44377719G>ACA8602808ITGA2Bc.2166C>T (p.Asn722=)
c.1597C>T
n.961C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44377719G>CCA399798922ITGA2Bc.2166C>G (p.Asn722Lys)
c.1597C>G
n.961C>G
17g.44377719G=CA2261366874ITGA2Bc.2166C= (p.Asn722=)
c.1597C=
n.961C=
17g.44377719G>TCA399798924ITGA2Bc.2166C>A (p.Asn722Lys)
c.1597C>A
n.961C>A
 gnomAD v4
17g.44377720T>ACA399798927ITGA2Bc.2165A>T (p.Asn722Ile)
c.1596A>T
n.960A>T
17g.44377720T>CCA399798929ITGA2Bc.2165A>G (p.Asn722Ser)
c.1596A>G
n.960A>G
17g.44377720T>GCA399798931ITGA2Bc.2165A>C (p.Asn722Thr)
c.1596A>C
n.960A>C
17g.44377721T>ACA399798934ITGA2Bc.2164A>T (p.Asn722Tyr)
c.1595A>T
n.959A>T
17g.44377721T>CCA399798936ITGA2Bc.2164A>G (p.Asn722Asp)
c.1595A>G
n.959A>G
17g.44377721T>GCA399798938ITGA2Bc.2164A>C (p.Asn722His)
c.1595A>C
n.959A>C
17g.44377722G>ACA500268017ITGA2Bc.2163C>T (p.Gly721=)
c.1594C>T
n.958C>T
17g.44377722G>CCA500268019ITGA2Bc.2163C>G (p.Gly721=)
c.1594C>G
n.958C>G
 dbSNP
17g.44377722G>TCA500268022ITGA2Bc.2163C>A (p.Gly721=)
c.1594C>A
n.958C>A
17g.44377723C>ACA399798943ITGA2Bc.2162G>T (p.Gly721Val)
c.1593G>T
n.957G>T
17g.44377723C>GCA399798941ITGA2Bc.2162G>C (p.Gly721Ala)
c.1593G>C
n.957G>C
17g.44377723C>TCA399798942ITGA2Bc.2162G>A (p.Gly721Asp)
c.1593G>A
n.957G>A
 gnomAD v4 COSMIC
17g.44377724C>ACA399798946ITGA2Bc.2161G>T (p.Gly721Cys)
c.1592G>T
n.956G>T
 dbSNP
17g.44377724C=CA2261366875ITGA2Bc.2161G= (p.Gly721=)
c.1592G=
n.956G=
17g.44377724C>GCA399798947ITGA2Bc.2161G>C (p.Gly721Arg)
c.1592G>C
n.956G>C
17g.44377724C>TCA399798950ITGA2Bc.2161G>A (p.Gly721Ser)
c.1592G>A
n.956G>A
 dbSNP gnomAD v2 gnomAD v4
17g.44377725C>ACA500268035ITGA2Bc.2160G>T (p.Leu720=)
c.1591G>T
n.955G>T
 gnomAD v4
17g.44377725C>GCA500268038ITGA2Bc.2160G>C (p.Leu720=)
c.1591G>C
n.955G>C
17g.44377725C>TCA500268041ITGA2Bc.2160G>A (p.Leu720=)
c.1591G>A
n.955G>A
17g.44377726A=CA2261366876ITGA2Bc.2159T= (p.Leu720=)
c.1590T=
n.954T=
17g.44377726A>CCA399798954ITGA2Bc.2159T>G (p.Leu720Arg)
c.1590T>G
n.954T>G
17g.44377726A>GCA399798955ITGA2Bc.2159T>C (p.Leu720Pro)
c.1590T>C
n.954T>C
 ClinVar dbSNP
17g.44377726A>TCA399798956ITGA2Bc.2159T>A (p.Leu720Gln)
c.1590T>A
n.954T>A
17g.44377727G>ACA500268063ITGA2Bc.2158C>T (p.Leu720=)
c.1589C>T
n.953C>T
17g.44377727G>CCA399798959ITGA2Bc.2158C>G (p.Leu720Val)
c.1589C>G
n.953C>G
17g.44377727G=CA2261366877ITGA2Bc.2158C= (p.Leu720=)
c.1589C=
n.953C=
17g.44377727G>TCA399798961ITGA2Bc.2158C>A (p.Leu720Met)
c.1589C>A
n.953C>A
 dbSNP gnomAD v2 gnomAD v4
17g.44377728C>ACA399798963ITGA2Bc.2157G>T (p.Glu719Asp)
c.1588G>T
n.952G>T
17g.44377728C>GCA399798966ITGA2Bc.2157G>C (p.Glu719Asp)
c.1588G>C
n.952G>C
17g.44377728C>TCA500268080ITGA2Bc.2157G>A (p.Glu719=)
c.1588G>A
n.952G>A
17g.44377729T>ACA399798973ITGA2Bc.2156A>T (p.Glu719Val)
c.1587A>T
n.951A>T
17g.44377729T>CCA399798971ITGA2Bc.2156A>G (p.Glu719Gly)
c.1587A>G
n.951A>G
17g.44377729T>GCA399798969ITGA2Bc.2156A>C (p.Glu719Ala)
c.1587A>C
n.951A>C
 COSMIC
17g.44377730C>ACA399798976ITGA2Bc.2155G>T (p.Glu719Ter)
c.1586G>T
n.950G>T
 COSMIC
17g.44377730C>GCA399798978ITGA2Bc.2155G>C (p.Glu719Gln)
c.1586G>C
n.950G>C
17g.44377730C>TCA399798980ITGA2Bc.2155G>A (p.Glu719Lys)
c.1586G>A
n.950G>A
17g.44377731A=CA2261366878ITGA2Bc.2154T= (p.Cys718=)
c.1585T=
n.949T=
17g.44377731A>CCA399798982ITGA2Bc.2154T>G (p.Cys718Trp)
c.1585T>G
n.949T>G
17g.44377731A>GCA500268101ITGA2Bc.2154T>C (p.Cys718=)
c.1585T>C
n.949T>C
17g.44377731A>TCA399798984ITGA2Bc.2154T>A (p.Cys718Ter)
c.1585T>A
n.949T>A
17g.44377732C>ACA399798987ITGA2Bc.2153G>T (p.Cys718Phe)
c.1584G>T
n.948G>T
17g.44377732C>GCA399798989ITGA2Bc.2153G>C (p.Cys718Ser)
c.1584G>C
n.948G>C
17g.44377732C>TCA399798990ITGA2Bc.2153G>A (p.Cys718Tyr)
c.1584G>A
n.948G>A
17g.44377732dupCA913189170ITGA2Bc.2153dup (p.Cys718TrpfsTer2)
c.1584dup
n.948dup
 ClinVar dbSNP
17g.44377733A>CCA399798993ITGA2Bc.2152T>G (p.Cys718Gly)
c.1583T>G
n.947T>G
17g.44377733A>GCA399798994ITGA2Bc.2152T>C (p.Cys718Arg)
c.1583T>C
n.947T>C
17g.44377733A>TCA399798996ITGA2Bc.2152T>A (p.Cys718Ser)
c.1583T>A
n.947T>A
17g.44377734C>ACA500268112ITGA2Bc.2151G>T (p.Leu717=)
c.1582G>T
n.946G>T
17g.44377734C=CA2261366879ITGA2Bc.2151G= (p.Leu717=)
c.1582G=
n.946G=
17g.44377734C>GCA500268113ITGA2Bc.2151G>C (p.Leu717=)
c.1582G>C
n.946G>C
17g.44377734C>TCA8602809ITGA2Bc.2151G>A (p.Leu717=)
c.1582G>A
n.946G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44377735A>CCA399799006ITGA2Bc.2150T>G (p.Leu717Arg)
c.1581T>G
n.945T>G
17g.44377735A>GCA399799004ITGA2Bc.2150T>C (p.Leu717Pro)
c.1581T>C
n.945T>C
 ClinVar dbSNP
17g.44377735A>TCA399799001ITGA2Bc.2150T>A (p.Leu717Gln)
c.1581T>A
n.945T>A
17g.44377736G>ACA500268126ITGA2Bc.2149C>T (p.Leu717=)
c.1580C>T
n.944C>T
17g.44377736G>CCA399799008ITGA2Bc.2149C>G (p.Leu717Val)
c.1580C>G
n.944C>G
17g.44377736G=CA2261366880ITGA2Bc.2149C= (p.Leu717=)
c.1580C=
n.944C=
17g.44377736G>TCA399799009ITGA2Bc.2149C>A (p.Leu717Met)
c.1580C>A
n.944C>A
17g.44377737C>ACA500268128ITGA2Bc.2148G>T (p.Val716=)
c.1579G>T
n.943G>T
 gnomAD v4
17g.44377737C=CA2261366881ITGA2Bc.2148G= (p.Val716=)
c.1579G=
n.943G=
17g.44377737C>GCA500268131ITGA2Bc.2148G>C (p.Val716=)
c.1579G>C
n.943G>C
17g.44377737C>TCA8602810ITGA2Bc.2148G>A (p.Val716=)
c.1579G>A
n.943G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44377737dupCA915940304ITGA2Bc.2148dup (p.Leu717AlafsTer3)
c.1579dup
n.943dup
 ClinVar dbSNP
17g.44377738A>CCA399799014ITGA2Bc.2147T>G (p.Val716Gly)
c.1578T>G
n.942T>G
17g.44377738A>GCA399799015ITGA2Bc.2147T>C (p.Val716Ala)
c.1578T>C
n.942T>C
17g.44377738A>TCA399799016ITGA2Bc.2147T>A (p.Val716Glu)
c.1578T>A
n.942T>A
17g.44377739C>ACA399799019ITGA2Bc.2146G>T (p.Val716Leu)
c.1577G>T
n.941G>T
17g.44377739C>GCA399799021ITGA2Bc.2146G>C (p.Val716Leu)
c.1577G>C
n.941G>C
17g.44377739C>TCA399799023ITGA2Bc.2146G>A (p.Val716Met)
c.1577G>A
n.941G>A
17g.44377740C>ACA500268145ITGA2Bc.2145G>T (p.Val715=)
c.1576G>T
n.940G>T
 gnomAD v4
17g.44377740C>GCA500268149ITGA2Bc.2145G>C (p.Val715=)
c.1576G>C
n.940G>C
17g.44377740C>TCA500268152ITGA2Bc.2145G>A (p.Val715=)
c.1576G>A
n.940G>A
17g.44377741A>CCA399799025ITGA2Bc.2144T>G (p.Val715Gly)
c.1575T>G
n.939T>G
17g.44377741A>GCA399799027ITGA2Bc.2144T>C (p.Val715Ala)
c.1575T>C
n.939T>C
17g.44377741A>TCA399799029ITGA2Bc.2144T>A (p.Val715Glu)
c.1575T>A
n.939T>A
17g.44377742C>ACA399799041ITGA2Bc.2143G>T (p.Val715Leu)
c.1574G>T
n.938G>T
 gnomAD v4
17g.44377742C=CA2261366882ITGA2Bc.2143G= (p.Val715=)
c.1574G=
n.938G=
17g.44377742C>GCA399799033ITGA2Bc.2143G>C (p.Val715Leu)
c.1574G>C
n.938G>C
17g.44377742C>TCA290948377ITGA2Bc.2143G>A (p.Val715Met)
c.1574G>A
n.938G>A
 dbSNP gnomAD v3 gnomAD v4
17g.44377743C>ACA8602811ITGA2Bc.2142G>T (p.Arg714Ser)
c.1573G>T
n.937G>T
 dbSNP ExAC gnomAD v2
17g.44377743C=CA2261366883ITGA2Bc.2142G= (p.Arg714=)
c.1573G=
n.937G=
17g.44377743C>GCA399799044ITGA2Bc.2142G>C (p.Arg714Ser)
c.1573G>C
n.937G>C
17g.44377743C>TCA500268165ITGA2Bc.2142G>A (p.Arg714=)
c.1573G>A
n.937G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.44377744C>ACA399799047ITGA2Bc.2141G>T (p.Arg714Met)
c.1572G>T
n.936G>T
17g.44377744C=CA2261366884ITGA2Bc.2141G= (p.Arg714=)
c.1572G=
n.936G=
17g.44377744C>GCA8602812ITGA2Bc.2141G>C (p.Arg714Thr)
c.1572G>C
n.936G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44377744C>TCA399799049ITGA2Bc.2141G>A (p.Arg714Lys)
c.1572G>A
n.936G>A
17g.44377745T>ACA399799052ITGA2Bc.2140A>T (p.Arg714Trp)
c.1571A>T
n.935A>T
17g.44377745T>CCA399799054ITGA2Bc.2140A>G (p.Arg714Gly)
c.1571A>G
n.935A>G
17g.44377745T>GCA500268174ITGA2Bc.2140A>C (p.Arg714=)
c.1571A>C
n.935A>C
17g.44377746G>ACA500268180ITGA2Bc.2139C>T (p.Thr713=)
c.1570C>T
n.934C>T
 ClinVar dbSNP gnomAD v4
17g.44377746G>CCA500268183ITGA2Bc.2139C>G (p.Thr713=)
c.1570C>G
n.934C>G
17g.44377746G=CA2261366885ITGA2Bc.2139C= (p.Thr713=)
c.1570C=
n.934C=
17g.44377746G>TCA500268177ITGA2Bc.2139C>A (p.Thr713=)
c.1570C>A
n.934C>A
17g.44377747G>ACA399799056ITGA2Bc.2138C>T (p.Thr713Ile)
c.1569C>T
n.933C>T
 COSMIC
17g.44377747G>CCA399799058ITGA2Bc.2138C>G (p.Thr713Ser)
c.1569C>G
n.933C>G
17g.44377747G>TCA399799060ITGA2Bc.2138C>A (p.Thr713Asn)
c.1569C>A
n.933C>A
17g.44377748T>ACA399799062ITGA2Bc.2137A>T (p.Thr713Ser)
c.1568A>T
n.932A>T
17g.44377748T>CCA399799064ITGA2Bc.2137A>G (p.Thr713Ala)
c.1568A>G
n.932A>G
17g.44377748T>GCA399799066ITGA2Bc.2137A>C (p.Thr713Pro)
c.1568A>C
n.932A>C
17g.44377749C>ACA399799068ITGA2Bc.2136G>T (p.Glu712Asp)
c.1567G>T
n.931G>T
17g.44377749C>GCA399799070ITGA2Bc.2136G>C (p.Glu712Asp)
c.1567G>C
n.931G>C
17g.44377749C>TCA500268205ITGA2Bc.2136G>A (p.Glu712=)
c.1567G>A
n.931G>A
17g.44377750T>ACA399799072ITGA2Bc.2135A>T (p.Glu712Val)
c.1566A>T
n.930A>T
17g.44377750T>CCA399799074ITGA2Bc.2135A>G (p.Glu712Gly)
c.1566A>G
n.930A>G
17g.44377750T>GCA399799075ITGA2Bc.2135A>C (p.Glu712Ala)
c.1566A>C
n.930A>C
17g.44377751C>ACA399799078ITGA2Bc.2134G>T (p.Glu712Ter)
c.1565G>T
n.929G>T
17g.44377751C=CA2261366886ITGA2Bc.2134G= (p.Glu712=)
c.1565G=
n.929G=
17g.44377751C>GCA399799081ITGA2Bc.2134G>C (p.Glu712Gln)
c.1565G>C
n.929G>C
17g.44377751C>TCA399799080ITGA2Bc.2134G>A (p.Glu712Lys)
c.1565G>A
n.929G>A
 dbSNP gnomAD v3 gnomAD v4
17g.44377752A=CA2261366887ITGA2Bc.2133T= (p.Asn711=)
c.1564T=
n.928T=
17g.44377752A>CCA8602813ITGA2Bc.2133T>G (p.Asn711Lys)
c.1564T>G
n.928T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44377752A>GCA500268223ITGA2Bc.2133T>C (p.Asn711=)
c.1564T>C
n.928T>C
17g.44377752A>TCA399799083ITGA2Bc.2133T>A (p.Asn711Lys)
c.1564T>A
n.928T>A
17g.44377753T>ACA399799086ITGA2Bc.2132A>T (p.Asn711Ile)
c.1563A>T
n.927A>T
17g.44377753T>CCA399799087ITGA2Bc.2132A>G (p.Asn711Ser)
c.1563A>G
n.927A>G
17g.44377753T>GCA399799090ITGA2Bc.2132A>C (p.Asn711Thr)
c.1563A>C
n.927A>C
17g.44377754T>ACA399799093ITGA2Bc.2131A>T (p.Asn711Tyr)
c.1562A>T
n.926A>T
17g.44377754T>CCA399799094ITGA2Bc.2131A>G (p.Asn711Asp)
c.1562A>G
n.926A>G
17g.44377754T>GCA399799097ITGA2Bc.2131A>C (p.Asn711His)
c.1562A>C
n.926A>C
17g.44377755C>ACA399799099ITGA2Bc.2130G>T (p.Glu710Asp)
c.1561G>T
n.925G>T
17g.44377755C=CA2261366888ITGA2Bc.2130G= (p.Glu710=)
c.1561G=
n.925G=
17g.44377755C>GCA399799101ITGA2Bc.2130G>C (p.Glu710Asp)
c.1561G>C
n.925G>C
17g.44377755C>TCA500268231ITGA2Bc.2130G>A (p.Glu710=)
c.1561G>A
n.925G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44377756T>ACA399799106ITGA2Bc.2129A>T (p.Glu710Val)
c.1560A>T
n.924A>T
17g.44377756T>CCA399799105ITGA2Bc.2129A>G (p.Glu710Gly)
c.1560A>G
n.924A>G
17g.44377756T>GCA399799104ITGA2Bc.2129A>C (p.Glu710Ala)
c.1560A>C
n.924A>C
17g.44377757C>ACA399799107ITGA2Bc.2128G>T (p.Glu710Ter)
c.1559G>T
n.923G>T
17g.44377757C=CA2261366889ITGA2Bc.2128G= (p.Glu710=)
c.1559G=
n.923G=
17g.44377757C>GCA399799109ITGA2Bc.2128G>C (p.Glu710Gln)
c.1559G>C
n.923G>C
17g.44377757C>TCA399799111ITGA2Bc.2128G>A (p.Glu710Lys)
c.1559G>A
n.923G>A
 dbSNP gnomAD v2 gnomAD v4
17g.44377757_44377760delinsCCTTCA2261366890ITGA2Bc.2125_2128delinsAAGG (p.Lys709=)
c.1556_1559delinsAAGG
n.920_923delinsAAGG
17g.44377758C>ACA399799115ITGA2Bc.2127G>T (p.Lys709Asn)
c.1558G>T
n.922G>T
17g.44377758C=CA2261366891ITGA2Bc.2127G= (p.Lys709=)
c.1558G=
n.922G=
17g.44377758C>GCA399799116ITGA2Bc.2127G>C (p.Lys709Asn)
c.1558G>C
n.922G>C
17g.44377758C>TCA8602814ITGA2Bc.2127G>A (p.Lys709=)
c.1558G>A
n.922G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44377763_44377765delCA500268245ITGA2Bc.2125_2127del (p.Lys709del)
c.1556_1558del
n.920_922del
 dbSNP gnomAD v4
17g.44377759T>ACA399799122ITGA2Bc.2126A>T (p.Lys709Met)
c.1557A>T
n.921A>T
17g.44377759T>CCA399799119ITGA2Bc.2126A>G (p.Lys709Arg)
c.1557A>G
n.921A>G
17g.44377759T>GCA399799120ITGA2Bc.2126A>C (p.Lys709Thr)
c.1557A>C
n.921A>C
17g.44377760T>ACA399799125ITGA2Bc.2125A>T (p.Lys709Ter)
c.1556A>T
n.920A>T
17g.44377760T>CCA399799126ITGA2Bc.2125A>G (p.Lys709Glu)
c.1556A>G
n.920A>G
 gnomAD v4
17g.44377760T>GCA399799128ITGA2Bc.2125A>C (p.Lys709Gln)
c.1556A>C
n.920A>C
17g.44377761C>ACA399799130ITGA2Bc.2124G>T (p.Lys708Asn)
c.1555G>T
n.919G>T
17g.44377761C=CA2261366892ITGA2Bc.2124G= (p.Lys708=)
c.1555G=
n.919G=
17g.44377761C>GCA399799132ITGA2Bc.2124G>C (p.Lys708Asn)
c.1555G>C
n.919G>C
 dbSNP
17g.44377761C>TCA500268256ITGA2Bc.2124G>A (p.Lys708=)
c.1555G>A
n.919G>A
17g.44377762T>ACA399799135ITGA2Bc.2123A>T (p.Lys708Met)
c.1554A>T
n.918A>T
17g.44377762T>CCA399799138ITGA2Bc.2123A>G (p.Lys708Arg)
c.1554A>G
n.918A>G
17g.44377762T>GCA399799136ITGA2Bc.2123A>C (p.Lys708Thr)
c.1554A>C
n.918A>C
17g.44377763T>ACA399799141ITGA2Bc.2122A>T (p.Lys708Ter)
c.1553A>T
n.917A>T
17g.44377763T>CCA399799143ITGA2Bc.2122A>G (p.Lys708Glu)
c.1553A>G
n.917A>G
17g.44377763T>GCA8602815ITGA2Bc.2122A>C (p.Lys708Gln)
c.1553A>C
n.917A>C
 dbSNP ExAC gnomAD v2
17g.44377763T=CA2261366893ITGA2Bc.2122A= (p.Lys708=)
c.1553A=
n.917A=
17g.44377764C>ACA399799147ITGA2Bc.2121G>T (p.Gln707His)
c.1552G>T
n.916G>T
17g.44377764C>GCA399799148ITGA2Bc.2121G>C (p.Gln707His)
c.1552G>C
n.916G>C
17g.44377764C>TCA500268279ITGA2Bc.2121G>A (p.Gln707=)
c.1552G>A
n.916G>A
17g.44377765T>ACA399799153ITGA2Bc.2120A>T (p.Gln707Leu)
c.1551A>T
n.915A>T
17g.44377765T>CCA399799164ITGA2Bc.2120A>G (p.Gln707Arg)
c.1551A>G
n.915A>G
17g.44377765T>GCA399799166ITGA2Bc.2120A>C (p.Gln707Pro)
c.1551A>C
n.915A>C
17g.44377766G>ACA399799169ITGA2Bc.2119C>T (p.Gln707Ter)
c.1550C>T
n.914C>T
 gnomAD v4
17g.44377766G>CCA399799172ITGA2Bc.2119C>G (p.Gln707Glu)
c.1550C>G
n.914C>G
17g.44377766G>TCA399799174ITGA2Bc.2119C>A (p.Gln707Lys)
c.1550C>A
n.914C>A
17g.44377767A=CA2261366894ITGA2Bc.2118T= (p.Asn706=)
c.1549T=
n.913T=
17g.44377767A>CCA399799176ITGA2Bc.2118T>G (p.Asn706Lys)
c.1549T>G
n.913T>G
17g.44377767A>GCA500268303ITGA2Bc.2118T>C (p.Asn706=)
c.1549T>C
n.913T>C
17g.44377767A>TCA399799178ITGA2Bc.2118T>A (p.Asn706Lys)
c.1549T>A
n.913T>A
 dbSNP
17g.44377768T>ACA399799181ITGA2Bc.2117A>T (p.Asn706Ile)
c.1548A>T
n.912A>T
17g.44377768T>CCA399799183ITGA2Bc.2117A>G (p.Asn706Ser)
c.1548A>G
n.912A>G
17g.44377768T>GCA399799185ITGA2Bc.2117A>C (p.Asn706Thr)
c.1548A>C
n.912A>C
17g.44377769T>ACA399799187ITGA2Bc.2116A>T (p.Asn706Tyr)
c.1547A>T
n.911A>T
17g.44377769T>CCA399799189ITGA2Bc.2116A>G (p.Asn706Asp)
c.1547A>G
n.911A>G
17g.44377769T>GCA399799192ITGA2Bc.2116A>C (p.Asn706His)
c.1547A>C
n.911A>C
17g.44377770A>CCA399799195ITGA2Bc.2115T>G (p.Cys705Trp)
c.1546T>G
n.910T>G
17g.44377770A>GCA500268320ITGA2Bc.2115T>C (p.Cys705=)
c.1546T>C
n.910T>C
17g.44377770A>TCA399799198ITGA2Bc.2115T>A (p.Cys705Ter)
c.1546T>A
n.910T>A
17g.44377771C>ACA399799201ITGA2Bc.2114G>T (p.Cys705Phe)
c.1545G>T
n.909G>T
17g.44377771C>GCA399799203ITGA2Bc.2114G>C (p.Cys705Ser)
c.1545G>C
n.909G>C
17g.44377771C>TCA399799206ITGA2Bc.2114G>A (p.Cys705Tyr)
c.1545G>A
n.909G>A
17g.44377772delCA915940833ITGA2Bc.2113del (p.Cys705ValfsTer20)
c.1544del
n.908del
17g.44377772A=CA2261366895ITGA2Bc.2113T= (p.Cys705=)
c.1544T=
n.908T=
17g.44377772A>CCA399799217ITGA2Bc.2113T>G (p.Cys705Gly)
c.1544T>G
n.908T>G
17g.44377772A>GCA8602816ITGA2Bc.2113T>C (p.Cys705Arg)
c.1544T>C
n.908T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44377772A>TCA399799220ITGA2Bc.2113T>A (p.Cys705Ser)
c.1544T>A
n.908T>A
17g.44377772_44377773delinsAGCA2261366896ITGA2Bc.2112_2113delinsCT (p.Ile704=)
c.1543_1544delinsCT
n.907_908delinsCT
17g.44377773delCA8602817ITGA2Bc.2112del (p.Cys705ValfsTer20)
c.1543del
n.907del
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44377773G>ACA500268338ITGA2Bc.2112C>T (p.Ile704=)
c.1543C>T
n.907C>T
17g.44377773G>CCA399799225ITGA2Bc.2112C>G (p.Ile704Met)
c.1543C>G
n.907C>G
17g.44377773G>TCA500268350ITGA2Bc.2112C>A (p.Ile704=)
c.1543C>A
n.907C>A
 COSMIC
17g.44377774A=CA2261366897ITGA2Bc.2111T= (p.Ile704=)
c.1542T=
n.906T=
17g.44377774A>CCA399799229ITGA2Bc.2111T>G (p.Ile704Ser)
c.1542T>G
n.906T>G
17g.44377774A>GCA399799231ITGA2Bc.2111T>C (p.Ile704Thr)
c.1542T>C
n.906T>C
 dbSNP gnomAD v2 gnomAD v4
17g.44377774A>TCA399799232ITGA2Bc.2111T>A (p.Ile704Asn)
c.1542T>A
n.906T>A
17g.44377775T>ACA399799233ITGA2Bc.2110A>T (p.Ile704Phe)
c.1541A>T
n.905A>T
17g.44377775T>CCA399799235ITGA2Bc.2110A>G (p.Ile704Val)
c.1541A>G
n.905A>G
17g.44377775T>GCA399799237ITGA2Bc.2110A>C (p.Ile704Leu)
c.1541A>C
n.905A>C
17g.44377776G>ACA500268363ITGA2Bc.2109C>T (p.Leu703=)
c.1540C>T
n.904C>T
17g.44377776G>CCA500268369ITGA2Bc.2109C>G (p.Leu703=)
c.1540C>G
n.904C>G
17g.44377776G>TCA500268373ITGA2Bc.2109C>A (p.Leu703=)
c.1540C>A
n.904C>A
17g.44377777delCA2576291258ITGA2Bc.2108del (p.Leu703ProfsTer22)
c.1539del
n.903del
 gnomAD v4
17g.44377777A>CCA399799246ITGA2Bc.2108T>G (p.Leu703Arg)
c.1539T>G
n.903T>G
17g.44377777A>GCA399799242ITGA2Bc.2108T>C (p.Leu703Pro)
c.1539T>C
n.903T>C
17g.44377777A>TCA399799245ITGA2Bc.2108T>A (p.Leu703His)
c.1539T>A
n.903T>A
17g.44377778G>ACA399799254ITGA2Bc.2107C>T (p.Leu703Phe)
c.1538C>T
n.902C>T
 gnomAD v4
17g.44377778G>CCA399799255ITGA2Bc.2107C>G (p.Leu703Val)
c.1538C>G
n.902C>G
17g.44377778G>TCA399799256ITGA2Bc.2107C>A (p.Leu703Ile)
c.1538C>A
n.902C>A

Number of alleles fetched