Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.31524653C>ACA2641406225DSG2n.660-50C>A
c.660-50C>A
c.829-50C>A (n.829-50C>A)
c.295-50C>A (n.295-50C>A)
 gnomAD v4
18g.31524653C=CA2293857220DSG2n.660-50C=
c.660-50C=
c.829-50C= (n.829-50C=)
c.295-50C= (n.295-50C=)
18g.31524653C>TCA297732004DSG2n.660-50C>T
c.660-50C>T
c.829-50C>T (n.829-50C>T)
c.295-50C>T (n.295-50C>T)
 dbSNP gnomAD v3 gnomAD v4
18g.31524653_31524655delinsCTTCA2293857218DSG2n.660-50_660-48delinsCTT
c.660-50_660-48delinsCTT
c.829-50_829-48delinsCTT (n.829-50_829-48delinsCTT)
c.295-50_295-48delinsCTT (n.295-50_295-48delinsCTT)
18g.31524653_31524659delinsCTTATATCA2293857221DSG2n.660-50_660-44delinsCTTATAT
c.660-50_660-44delinsCTTATAT
c.829-50_829-44delinsCTTATAT (n.829-50_829-44delinsCTTATAT)
c.295-50_295-44delinsCTTATAT (n.295-50_295-44delinsCTTATAT)
18g.31524654T>ACA2576480513DSG2n.660-49T>A
c.660-49T>A
c.829-49T>A (n.829-49T>A)
c.295-49T>A (n.295-49T>A)
18g.31524654_31524655delCA050219DSG2n.660-49_660-48del
c.660-49_660-48del
c.829-49_829-48del (n.829-49_829-48del)
c.295-49_295-48del (n.295-49_295-48del)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31524656_31524661delCA2293857222DSG2n.660-47_660-42del
c.660-47_660-42del
c.829-47_829-42del (n.829-47_829-42del)
c.295-47_295-42del (n.295-47_295-42del)
 dbSNP gnomAD v4
18g.31524657T=CA2293857224DSG2n.660-46T=
c.660-46T=
c.829-46T= (n.829-46T=)
c.295-46T= (n.295-46T=)
18g.31524662_31524667delCA2641406226DSG2n.660-41_660-36del
c.660-41_660-36del
c.829-41_829-36del (n.829-41_829-36del)
c.295-41_295-36del (n.295-41_295-36del)
 gnomAD v4
18g.31524657_31524668delCA2641406227DSG2n.660-46_660-35del
c.660-46_660-35del
c.829-46_829-35del (n.829-46_829-35del)
c.295-46_295-35del (n.295-46_295-35del)
 gnomAD v4
18g.31524658A=CA2293857227DSG2n.660-45A=
c.660-45A=
c.829-45A= (n.829-45A=)
c.295-45A= (n.295-45A=)
18g.31524658A>GCA629148147DSG2n.660-45A>G
c.660-45A>G
c.829-45A>G (n.829-45A>G)
c.295-45A>G (n.295-45A>G)
 dbSNP gnomAD v2 gnomAD v4
18g.31524658dupCA050211DSG2n.660-45dup
c.660-45dup
c.829-45dup (n.829-45dup)
c.295-45dup (n.295-45dup)
 dbSNP ExAC gnomAD v2
18g.31524661T>CCA050203DSG2n.660-42T>C
c.660-42T>C
c.829-42T>C (n.829-42T>C)
c.295-42T>C (n.295-42T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524661T=CA2293857229DSG2n.660-42T=
c.660-42T=
c.829-42T= (n.829-42T=)
c.295-42T= (n.295-42T=)
18g.31524662G>ACA988920961DSG2n.660-41G>A
c.660-41G>A
c.829-41G>A (n.829-41G>A)
c.295-41G>A (n.295-41G>A)
 dbSNP gnomAD v3 gnomAD v4
18g.31524662G=CA2293857231DSG2n.660-41G=
c.660-41G=
c.829-41G= (n.829-41G=)
c.295-41G= (n.295-41G=)
18g.31524662G>TCA2576480514DSG2n.660-41G>T
c.660-41G>T
c.829-41G>T (n.829-41G>T)
c.295-41G>T (n.295-41G>T)
 gnomAD v4
18g.31524667T>CCA050193DSG2n.660-36T>C
c.660-36T>C
c.829-36T>C (n.829-36T>C)
c.295-36T>C (n.295-36T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524667T=CA2293857234DSG2n.660-36T=
c.660-36T=
c.829-36T= (n.829-36T=)
c.295-36T= (n.295-36T=)
18g.31524668C>TCA2812000638DSG2n.660-35C>T
c.660-35C>T
c.829-35C>T (n.829-35C>T)
c.295-35C>T (n.295-35C>T)
18g.31524669A=CA2293857237DSG2n.660-34A=
c.660-34A=
c.829-34A= (n.829-34A=)
c.295-34A= (n.295-34A=)
18g.31524669A>CCA2576480515DSG2n.660-34A>C
c.660-34A>C
c.829-34A>C (n.829-34A>C)
c.295-34A>C (n.295-34A>C)
18g.31524669A>GCA2293857238DSG2n.660-34A>G
c.660-34A>G
c.829-34A>G (n.829-34A>G)
c.295-34A>G (n.295-34A>G)
 dbSNP gnomAD v4
18g.31524669A>TCA050187DSG2n.660-34A>T
c.660-34A>T
c.829-34A>T (n.829-34A>T)
c.295-34A>T (n.295-34A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524670T>ACA2576480516DSG2n.660-33T>A
c.660-33T>A
c.829-33T>A (n.829-33T>A)
c.295-33T>A (n.295-33T>A)
 gnomAD v4
18g.31524670T>GCA629148148DSG2n.660-33T>G
c.660-33T>G
c.829-33T>G (n.829-33T>G)
c.295-33T>G (n.295-33T>G)
 dbSNP gnomAD v2 gnomAD v4
18g.31524670T=CA2293857242DSG2n.660-33T=
c.660-33T=
c.829-33T= (n.829-33T=)
c.295-33T= (n.295-33T=)
18g.31524675A=CA2293857244DSG2n.660-28A=
c.660-28A=
c.829-28A= (n.829-28A=)
c.295-28A= (n.295-28A=)
18g.31524675A>GCA2293857246DSG2n.660-28A>G
c.660-28A>G
c.829-28A>G (n.829-28A>G)
c.295-28A>G (n.295-28A>G)
 dbSNP
18g.31524676T>CCA2576480517DSG2n.660-27T>C
c.660-27T>C
c.829-27T>C (n.829-27T>C)
c.295-27T>C (n.295-27T>C)
18g.31524677A=CA2293857248DSG2n.660-26A=
c.660-26A=
c.829-26A= (n.829-26A=)
c.295-26A= (n.295-26A=)
18g.31524677A>GCA2293857249DSG2n.660-26A>G
c.660-26A>G
c.829-26A>G (n.829-26A>G)
c.295-26A>G (n.295-26A>G)
 dbSNP
18g.31524678A>CCA2576480518DSG2n.660-25A>C
c.660-25A>C
c.829-25A>C (n.829-25A>C)
c.295-25A>C (n.295-25A>C)
 gnomAD v4
18g.31524683C>TCA2641406228DSG2n.660-20C>T
c.660-20C>T
c.829-20C>T (n.829-20C>T)
c.295-20C>T (n.295-20C>T)
 gnomAD v4
18g.31524683_31524685delinsCATCA2293857251DSG2n.660-20_660-18delinsCAT
c.660-20_660-18delinsCAT
c.829-20_829-18delinsCAT (n.829-20_829-18delinsCAT)
c.295-20_295-18delinsCAT (n.295-20_295-18delinsCAT)
18g.31524684A>GCA2641406230DSG2n.660-19A>G
c.660-19A>G
c.829-19A>G (n.829-19A>G)
c.295-19A>G (n.295-19A>G)
 gnomAD v4
18g.31524684A>TCA2576480519DSG2n.660-19A>T
c.660-19A>T
c.829-19A>T (n.829-19A>T)
c.295-19A>T (n.295-19A>T)
 gnomAD v4
18g.31524684dupCA2641406229DSG2n.660-19dup
c.660-19dup
c.829-19dup (n.829-19dup)
c.295-19dup (n.295-19dup)
 gnomAD v4
18g.31524684_31524685delCA050177DSG2n.660-19_660-18del
c.660-19_660-18del
c.829-19_829-18del (n.829-19_829-18del)
c.295-19_295-18del (n.295-19_295-18del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524685T>CCA297732029DSG2n.660-18T>C
c.660-18T>C
c.829-18T>C (n.829-18T>C)
c.295-18T>C (n.295-18T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31524685T=CA2293857260DSG2n.660-18T=
c.660-18T=
c.829-18T= (n.829-18T=)
c.295-18T= (n.295-18T=)
18g.31524685dupCA2580095680DSG2n.660-18dup
c.660-18dup
c.829-18dup (n.829-18dup)
c.295-18dup (n.295-18dup)
 ClinVar
18g.31524688_31524689delCA402135343DSG2n.660-15_660-14del
c.660-15_660-14del
c.829-15_829-14del (n.829-15_829-14del)
c.295-15_295-14del (n.295-15_295-14del)
18g.31524686G>ACA297732036DSG2n.660-17G>A
c.660-17G>A
c.829-17G>A (n.829-17G>A)
c.295-17G>A (n.295-17G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31524686G=CA2293857264DSG2n.660-17G=
c.660-17G=
c.829-17G= (n.829-17G=)
c.295-17G= (n.295-17G=)
18g.31524687T>CCA2741576438DSG2n.660-16T>C
c.660-16T>C
c.829-16T>C (n.829-16T>C)
c.295-16T>C (n.295-16T>C)
18g.31524687T>GCA297732039DSG2n.660-16T>G
c.660-16T>G
c.829-16T>G (n.829-16T>G)
c.295-16T>G (n.295-16T>G)
 dbSNP gnomAD v2 gnomAD v4
18g.31524687T=CA2293857268DSG2n.660-16T=
c.660-16T=
c.829-16T= (n.829-16T=)
c.295-16T= (n.295-16T=)
18g.31524688G>ACA2641406231DSG2n.660-15G>A
c.660-15G>A
c.829-15G>A (n.829-15G>A)
c.295-15G>A (n.295-15G>A)
 gnomAD v4
18g.31524688G>CCA2499225123DSG2n.660-15G>C
c.660-15G>C
c.829-15G>C (n.829-15G>C)
c.295-15G>C (n.295-15G>C)
 ClinVar dbSNP
18g.31524691C>ACA2697555386DSG2n.660-12C>A
c.660-12C>A
c.829-12C>A (n.829-12C>A)
c.295-12C>A (n.295-12C>A)
 ClinVar
18g.31524691C>TCA2641406232DSG2n.660-12C>T
c.660-12C>T
c.829-12C>T (n.829-12C>T)
c.295-12C>T (n.295-12C>T)
 gnomAD v4
18g.31524692A=CA2293857271DSG2n.660-11A=
c.660-11A=
c.829-11A= (n.829-11A=)
c.295-11A= (n.295-11A=)
18g.31524692A>GCA988920977DSG2n.660-11A>G
c.660-11A>G
c.829-11A>G (n.829-11A>G)
c.295-11A>G (n.295-11A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31524694G>ACA2564298980DSG2n.660-9G>A
c.660-9G>A
c.829-9G>A (n.829-9G>A)
c.295-9G>A (n.295-9G>A)
 ClinVar gnomAD v4
18g.31524694G>CCA050236DSG2n.660-9G>C
c.660-9G>C
c.829-9G>C (n.829-9G>C)
c.295-9G>C (n.295-9G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31524694G=CA2293857275DSG2n.660-9G=
c.660-9G=
c.829-9G= (n.829-9G=)
c.295-9G= (n.295-9G=)
18g.31524695T>CCA050234DSG2n.660-8T>C
c.660-8T>C
c.829-8T>C (n.829-8T>C)
c.295-8T>C (n.295-8T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31524695T=CA2293857277DSG2n.660-8T=
c.660-8T=
c.829-8T= (n.829-8T=)
c.295-8T= (n.295-8T=)
18g.31524698delCA2576480520DSG2n.660-5del
c.660-5del
c.829-5del (n.829-5del)
c.295-5del (n.295-5del)
 gnomAD v4
18g.31524697T>CCA2641406233DSG2n.660-6T>C
c.660-6T>C
c.829-6T>C (n.829-6T>C)
c.295-6T>C (n.295-6T>C)
 gnomAD v4
18g.31524698T>CCA050226DSG2n.660-5T>C
c.660-5T>C
c.829-5T>C (n.829-5T>C)
c.295-5T>C (n.295-5T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524698T=CA2293857280DSG2n.660-5T=
c.660-5T=
c.829-5T= (n.829-5T=)
c.295-5T= (n.295-5T=)
18g.31524699G>ACA16608729DSG2n.660-4G>A
c.660-4G>A
c.829-4G>A (n.829-4G>A)
c.295-4G>A (n.295-4G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31524699G=CA2293857282DSG2n.660-4G=
c.660-4G=
c.829-4G= (n.829-4G=)
c.295-4G= (n.295-4G=)
18g.31524699G>TCA629453637DSG2n.660-4G>T
c.660-4G>T
c.829-4G>T (n.829-4G>T)
c.295-4G>T (n.295-4G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31524700C>ACA2573155224DSG2n.660-3C>A
c.660-3C>A
c.829-3C>A (n.829-3C>A)
c.295-3C>A (n.295-3C>A)
 ClinVar dbSNP
18g.31524700C=CA2293857284DSG2n.660-3C=
c.660-3C=
c.829-3C= (n.829-3C=)
c.295-3C= (n.295-3C=)
18g.31524700C>TCA778437081DSG2n.660-3C>T
c.660-3C>T
c.829-3C>T (n.829-3C>T)
c.295-3C>T (n.295-3C>T)
 dbSNP
18g.31524701delCA2573054646DSG2n.660-2del
c.660-2del
c.829-2del (n.829-2del)
c.295-2del (n.295-2del)
 dbSNP
18g.31524701A>CCA402135349DSG2n.660-2A>C
c.660-2A>C
c.829-2A>C (n.829-2A>C)
c.295-2A>C (n.295-2A>C)
18g.31524701A>GCA402135350DSG2n.660-2A>G
c.660-2A>G
c.829-2A>G (n.829-2A>G)
c.295-2A>G (n.295-2A>G)
18g.31524701A>TCA402135351DSG2n.660-2A>T
c.660-2A>T
c.829-2A>T (n.829-2A>T)
c.295-2A>T (n.295-2A>T)
 ClinVar dbSNP
18g.31524701_31524709delinsAGCTTGAAGCA2293857286DSG2n.660-2_666delinsAGCTTGAAG
c.660-2_666delinsAGCTTGAAG
c.829-2_835delinsAGCTTGAAG
c.295-2_301delinsAGCTTGAAG
18g.31524701_31524713delinsAGCTTGAAGGGATCA2293857285DSG2n.660-2_670delinsAGCTTGAAGGGAT
c.660-2_670delinsAGCTTGAAGGGAT
c.829-2_839delinsAGCTTGAAGGGAT
c.295-2_305delinsAGCTTGAAGGGAT
18g.31524702G>ACA402135354DSG2n.660-1G>A
c.660-1G>A
c.829-1G>A (n.829-1G>A)
c.295-1G>A (n.295-1G>A)
 ClinVar
18g.31524702G>CCA402135356DSG2n.660-1G>C
c.660-1G>C
c.829-1G>C (n.829-1G>C)
c.295-1G>C (n.295-1G>C)
 gnomAD v4
18g.31524702G>TCA402135357DSG2n.660-1G>T
c.660-1G>T
c.829-1G>T (n.829-1G>T)
c.295-1G>T (n.295-1G>T)
18g.31524703_31524710delCA778437092DSG2n.660_667del
c.660_667del
c.829_836del
c.295_302del
 dbSNP
18g.31524703_31524714delCA022276DSG2n.660_671del
c.660_671del
c.829_840del
c.295_306del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524703_31524715delCA2695227358DSG2n.660_672del
c.660_672del
c.829_841del
c.295_307del
18g.31524703C>ACA402135360DSG2n.660C>A
c.660C>A
c.829C>A (p.Leu277Ile)
c.295C>A (p.Leu99Ile)
18g.31524703C>GCA402135362DSG2n.660C>G
c.660C>G
c.829C>G (p.Leu277Val)
c.295C>G (p.Leu99Val)
18g.31524703C>TCA402135363DSG2n.660C>T
c.660C>T
c.829C>T (p.Leu277Phe)
c.295C>T (p.Leu99Phe)
18g.31524704T>ACA402135367DSG2n.661T>A
c.661T>A
c.830T>A (p.Leu277His)
c.296T>A (p.Leu99His)
18g.31524704T>CCA402135366DSG2n.661T>C
c.661T>C
c.830T>C (p.Leu277Pro)
c.296T>C (p.Leu99Pro)
18g.31524704T>GCA402135364DSG2n.661T>G
c.661T>G
c.830T>G (p.Leu277Arg)
c.296T>G (p.Leu99Arg)
18g.31524705T>ACA503599237DSG2n.662T>A
c.662T>A
c.831T>A (p.Leu277=)
c.297T>A (p.Leu99=)
18g.31524705T>CCA503599238DSG2n.662T>C
c.662T>C
c.831T>C (p.Leu277=)
c.297T>C (p.Leu99=)
 gnomAD v4
18g.31524705T>GCA503599239DSG2n.662T>G
c.662T>G
c.831T>G (p.Leu277=)
c.297T>G (p.Leu99=)
18g.31524706G>ACA402135369DSG2n.663G>A
c.663G>A
c.832G>A (p.Glu278Lys)
c.298G>A (p.Glu100Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31524706G>CCA402135370DSG2n.663G>C
c.663G>C
c.832G>C (p.Glu278Gln)
c.298G>C (p.Glu100Gln)
18g.31524706G=CA2293857295DSG2n.663G=
c.663G=
c.832G= (p.Glu278=)
c.298G= (p.Glu100=)
18g.31524706G>TCA402135372DSG2n.663G>T
c.663G>T
c.832G>T (p.Glu278Ter)
c.298G>T (p.Glu100Ter)
18g.31524707A=CA2293857298DSG2n.664A=
c.664A=
c.833A= (p.Glu278=)
c.299A= (p.Glu100=)
18g.31524707A>CCA402135374DSG2n.664A>C
c.664A>C
c.833A>C (p.Glu278Ala)
c.299A>C (p.Glu100Ala)
18g.31524707A>GCA402135376DSG2n.664A>G
c.664A>G
c.833A>G (p.Glu278Gly)
c.299A>G (p.Glu100Gly)
 gnomAD v4
18g.31524707A>TCA402135377DSG2n.664A>T
c.664A>T
c.833A>T (p.Glu278Val)
c.299A>T (p.Glu100Val)
 dbSNP
18g.31524708A=CA2293857301DSG2n.665A=
c.665A=
c.834A= (p.Glu278=)
c.300A= (p.Glu100=)
18g.31524708A>CCA402135379DSG2n.665A>C
c.665A>C
c.834A>C (p.Glu278Asp)
c.300A>C (p.Glu100Asp)
18g.31524708A>GCA503599241DSG2n.665A>G
c.665A>G
c.834A>G (p.Glu278=)
c.300A>G (p.Glu100=)
 ClinVar dbSNP
18g.31524708A>TCA402135380DSG2n.665A>T
c.665A>T
c.834A>T (p.Glu278Asp)
c.300A>T (p.Glu100Asp)
18g.31524709G>ACA402135381DSG2n.666G>A
c.666G>A
c.835G>A (p.Gly279Arg)
c.301G>A (p.Gly101Arg)
18g.31524709G>CCA402135383DSG2n.666G>C
c.666G>C
c.835G>C (p.Gly279Arg)
c.301G>C (p.Gly101Arg)
18g.31524709G>TCA402135384DSG2n.666G>T
c.666G>T
c.835G>T (p.Gly279Trp)
c.301G>T (p.Gly101Trp)
18g.31524710G>ACA402135385DSG2n.667G>A
c.667G>A
c.836G>A (p.Gly279Glu)
c.302G>A (p.Gly101Glu)
18g.31524710G>CCA402135386DSG2n.667G>C
c.667G>C
c.836G>C (p.Gly279Ala)
c.302G>C (p.Gly101Ala)
18g.31524710G>TCA402135387DSG2n.667G>T
c.667G>T
c.836G>T (p.Gly279Val)
c.302G>T (p.Gly101Val)
18g.31524711G>ACA297732069DSG2n.668G>A
c.668G>A
c.837G>A (p.Gly279=)
c.303G>A (p.Gly101=)
 dbSNP
18g.31524711G>CCA503599243DSG2n.668G>C
c.668G>C
c.837G>C (p.Gly279=)
c.303G>C (p.Gly101=)
18g.31524711G=CA2293857306DSG2n.668G=
c.668G=
c.837G= (p.Gly279=)
c.303G= (p.Gly101=)
18g.31524711G>TCA503599242DSG2n.668G>T
c.668G>T
c.837G>T (p.Gly279=)
c.303G>T (p.Gly101=)
18g.31524712A=CA2293857309DSG2n.669A=
c.669A=
c.838A= (p.Met280=)
c.304A= (p.Met102=)
18g.31524712A>CCA402135389DSG2n.669A>C
c.669A>C
c.838A>C (p.Met280Leu)
c.304A>C (p.Met102Leu)
 ClinVar dbSNP
18g.31524712A>GCA402135390DSG2n.669A>G
c.669A>G
c.838A>G (p.Met280Val)
c.304A>G (p.Met102Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31524712A>TCA402135388DSG2n.669A>T
c.669A>T
c.838A>T (p.Met280Leu)
c.304A>T (p.Met102Leu)
 gnomAD v4
18g.31524713T>ACA402135392DSG2n.670T>A
c.670T>A
c.839T>A (p.Met280Lys)
c.305T>A (p.Met102Lys)
18g.31524713T>CCA297732071DSG2n.670T>C
c.670T>C
c.839T>C (p.Met280Thr)
c.305T>C (p.Met102Thr)
 ClinVar dbSNP gnomAD v4
18g.31524713T>GCA402135395DSG2n.670T>G
c.670T>G
c.839T>G (p.Met280Arg)
c.305T>G (p.Met102Arg)
18g.31524713T=CA2293857313DSG2n.670T=
c.670T=
c.839T= (p.Met280=)
c.305T= (p.Met102=)
18g.31524714G>ACA402135396DSG2n.671G>A
c.671G>A
c.840G>A (p.Met280Ile)
c.306G>A (p.Met102Ile)
18g.31524714G>CCA402135397DSG2n.671G>C
c.671G>C
c.840G>C (p.Met280Ile)
c.306G>C (p.Met102Ile)
18g.31524714G>TCA402135399DSG2n.671G>T
c.671G>T
c.840G>T (p.Met280Ile)
c.306G>T (p.Met102Ile)
18g.31524715G>ACA022282DSG2n.672G>A
c.672G>A
c.841G>A (p.Val281Ile)
c.307G>A (p.Val103Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524715G>CCA402135402DSG2n.672G>C
c.672G>C
c.841G>C (p.Val281Leu)
c.307G>C (p.Val103Leu)
18g.31524715G=CA2293857317DSG2n.672G=
c.672G=
c.841G= (p.Val281=)
c.307G= (p.Val103=)
18g.31524715G>TCA402135403DSG2n.672G>T
c.672G>T
c.841G>T (p.Val281Phe)
c.307G>T (p.Val103Phe)
18g.31524716T>ACA402135405DSG2n.673T>A
c.673T>A
c.842T>A (p.Val281Asp)
c.308T>A (p.Val103Asp)
18g.31524716T>CCA402135407DSG2n.673T>C
c.673T>C
c.842T>C (p.Val281Ala)
c.308T>C (p.Val103Ala)
 dbSNP gnomAD v4
18g.31524716T>GCA402135408DSG2n.673T>G
c.673T>G
c.842T>G (p.Val281Gly)
c.308T>G (p.Val103Gly)
18g.31524716T=CA2293857322DSG2n.673T=
c.673T=
c.842T= (p.Val281=)
c.308T= (p.Val103=)
18g.31524717T>ACA503599244DSG2n.674T>A
c.674T>A
c.843T>A (p.Val281=)
c.309T>A (p.Val103=)
18g.31524717T>CCA503599245DSG2n.674T>C
c.674T>C
c.843T>C (p.Val281=)
c.309T>C (p.Val103=)
 dbSNP
18g.31524717T>GCA503599246DSG2n.674T>G
c.674T>G
c.843T>G (p.Val281=)
c.309T>G (p.Val103=)
18g.31524717_31524720delinsTGAACA2293857325DSG2n.674_677delinsTGAA
c.674_677delinsTGAA
c.843_846delinsTGAA (p.Val281=)
c.309_312delinsTGAA (p.Val103=)
18g.31524718G>ACA402135413DSG2n.675G>A
c.675G>A
c.844G>A (p.Glu282Lys)
c.310G>A (p.Glu104Lys)
 gnomAD v4
18g.31524718G>CCA402135410DSG2n.675G>C
c.675G>C
c.844G>C (p.Glu282Gln)
c.310G>C (p.Glu104Gln)
18g.31524718G>TCA402135411DSG2n.675G>T
c.675G>T
c.844G>T (p.Glu282Ter)
c.310G>T (p.Glu104Ter)
18g.31524721_31524723delCA778437105DSG2n.678_680del
c.678_680del
c.847_849del (p.Glu283del)
c.313_315del (p.Glu105del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31524719A>CCA402135415DSG2n.676A>C
c.676A>C
c.845A>C (p.Glu282Ala)
c.311A>C (p.Glu104Ala)
18g.31524719A>GCA402135416DSG2n.676A>G
c.676A>G
c.845A>G (p.Glu282Gly)
c.311A>G (p.Glu104Gly)
 COSMIC
18g.31524719A>TCA402135418DSG2n.676A>T
c.676A>T
c.845A>T (p.Glu282Val)
c.311A>T (p.Glu104Val)
18g.31524720A=CA2293857333DSG2n.677A=
c.677A=
c.846A= (p.Glu282=)
c.312A= (p.Glu104=)
18g.31524720A>CCA402135420DSG2n.677A>C
c.677A>C
c.846A>C (p.Glu282Asp)
c.312A>C (p.Glu104Asp)
18g.31524720A>GCA050254DSG2n.677A>G
c.677A>G
c.846A>G (p.Glu282=)
c.312A>G (p.Glu104=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524720A>TCA402135422DSG2n.677A>T
c.677A>T
c.846A>T (p.Glu282Asp)
c.312A>T (p.Glu104Asp)
18g.31524721G>ACA402135424DSG2n.678G>A
c.678G>A
c.847G>A (p.Glu283Lys)
c.313G>A (p.Glu105Lys)
 dbSNP gnomAD v4 COSMIC
18g.31524721G>CCA402135425DSG2n.678G>C
c.678G>C
c.847G>C (p.Glu283Gln)
c.313G>C (p.Glu105Gln)
18g.31524721G>TCA402135427DSG2n.678G>T
c.678G>T
c.847G>T (p.Glu283Ter)
c.313G>T (p.Glu105Ter)
18g.31524722A>CCA402135429DSG2n.679A>C
c.679A>C
c.848A>C (p.Glu283Ala)
c.314A>C (p.Glu105Ala)
18g.31524722A>GCA402135431DSG2n.679A>G
c.679A>G
c.848A>G (p.Glu283Gly)
c.314A>G (p.Glu105Gly)
18g.31524722A>TCA402135432DSG2n.679A>T
c.679A>T
c.848A>T (p.Glu283Val)
c.314A>T (p.Glu105Val)
18g.31524723A>CCA402135434DSG2n.680A>C
c.680A>C
c.849A>C (p.Glu283Asp)
c.315A>C (p.Glu105Asp)
18g.31524723A>GCA503599247DSG2n.680A>G
c.680A>G
c.849A>G (p.Glu283=)
c.315A>G (p.Glu105=)
18g.31524723A>TCA402135435DSG2n.680A>T
c.680A>T
c.849A>T (p.Glu283Asp)
c.315A>T (p.Glu105Asp)
18g.31524723_31524727delinsAAATCCA2293857336DSG2n.680_684delinsAAATC
c.680_684delinsAAATC
c.849_853delinsAAATC (p.Glu283=)
c.315_319delinsAAATC (p.Glu105=)
18g.31524724A>CCA402135437DSG2n.681A>C
c.681A>C
c.850A>C (p.Asn284His)
c.316A>C (p.Asn106His)
18g.31524724A>GCA402135440DSG2n.681A>G
c.681A>G
c.850A>G (p.Asn284Asp)
c.316A>G (p.Asn106Asp)
18g.31524724A>TCA402135439DSG2n.681A>T
c.681A>T
c.850A>T (p.Asn284Tyr)
c.316A>T (p.Asn106Tyr)
18g.31524726_31524729delCA778437111DSG2n.683_686del
c.683_686del
c.852_855del (p.Asn284LysfsTer4)
c.318_321del (p.Asn106LysfsTer4)
 dbSNP gnomAD v4
18g.31524725A>CCA402135442DSG2n.682A>C
c.682A>C
c.851A>C (p.Asn284Thr)
c.317A>C (p.Asn106Thr)
18g.31524725A>GCA402135445DSG2n.682A>G
c.682A>G
c.851A>G (p.Asn284Ser)
c.317A>G (p.Asn106Ser)
18g.31524725A>TCA402135443DSG2n.682A>T
c.682A>T
c.851A>T (p.Asn284Ile)
c.317A>T (p.Asn106Ile)
18g.31524726T>ACA402135447DSG2n.683T>A
c.683T>A
c.852T>A (p.Asn284Lys)
c.318T>A (p.Asn106Lys)
18g.31524726T>CCA022294DSG2n.683T>C
c.683T>C
c.852T>C (p.Asn284=)
c.318T>C (p.Asn106=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524726T>GCA402135448DSG2n.683T>G
c.683T>G
c.852T>G (p.Asn284Lys)
c.318T>G (p.Asn106Lys)
18g.31524726T=CA2293856781DSG2n.683T=
c.683T=
c.852T= (p.Asn284=)
c.318T= (p.Asn106=)
18g.31524727C>ACA402135450DSG2n.684C>A
c.684C>A
c.853C>A (p.Gln285Lys)
c.319C>A (p.Gln107Lys)
18g.31524727C=CA2293856788DSG2n.684C=
c.684C=
c.853C= (p.Gln285=)
c.319C= (p.Gln107=)
18g.31524727C>GCA050276DSG2n.684C>G
c.684C>G
c.853C>G (p.Gln285Glu)
c.319C>G (p.Gln107Glu)
 ClinVar dbSNP ExAC gnomAD v2
18g.31524727C>TCA402135451DSG2n.684C>T
c.684C>T
c.853C>T (p.Gln285Ter)
c.319C>T (p.Gln107Ter)
 ClinVar gnomAD v4
18g.31524728A=CA2293856790DSG2n.685A=
c.685A=
c.854A= (p.Gln285=)
c.320A= (p.Gln107=)
18g.31524728A>CCA402135455DSG2n.685A>C
c.685A>C
c.854A>C (p.Gln285Pro)
c.320A>C (p.Gln107Pro)
18g.31524728A>GCA402135456DSG2n.685A>G
c.685A>G
c.854A>G (p.Gln285Arg)
c.320A>G (p.Gln107Arg)
18g.31524728A>TCA050287DSG2n.685A>T
c.685A>T
c.854A>T (p.Gln285Leu)
c.320A>T (p.Gln107Leu)
 dbSNP ExAC gnomAD v2
18g.31524729A=CA2293856795DSG2n.686A=
c.686A=
c.855A= (p.Gln285=)
c.321A= (p.Gln107=)
18g.31524729A>CCA402135457DSG2n.686A>C
c.686A>C
c.855A>C (p.Gln285His)
c.321A>C (p.Gln107His)
18g.31524729A>GCA503599248DSG2n.686A>G
c.686A>G
c.855A>G (p.Gln285=)
c.321A>G (p.Gln107=)
 dbSNP gnomAD v2 gnomAD v4
18g.31524729A>TCA402135459DSG2n.686A>T
c.686A>T
c.855A>T (p.Gln285His)
c.321A>T (p.Gln107His)
18g.31524730G>ACA402135461DSG2n.687G>A
c.687G>A
c.856G>A (p.Val286Ile)
c.322G>A (p.Val108Ile)
 ClinVar dbSNP
18g.31524730G>CCA402135462DSG2n.687G>C
c.687G>C
c.856G>C (p.Val286Leu)
c.322G>C (p.Val108Leu)
18g.31524730G=CA2293856797DSG2n.687G=
c.687G=
c.856G= (p.Val286=)
c.322G= (p.Val108=)
18g.31524730G>TCA402135463DSG2n.687G>T
c.687G>T
c.856G>T (p.Val286Phe)
c.322G>T (p.Val108Phe)
18g.31524731T>ACA402135465DSG2n.688T>A
c.688T>A
c.857T>A (p.Val286Asp)
c.323T>A (p.Val108Asp)
18g.31524731T>CCA402135467DSG2n.688T>C
c.688T>C
c.857T>C (p.Val286Ala)
c.323T>C (p.Val108Ala)
18g.31524731T>GCA402135468DSG2n.688T>G
c.688T>G
c.857T>G (p.Val286Gly)
c.323T>G (p.Val108Gly)
18g.31524732C>ACA503599249DSG2n.689C>A
c.689C>A
c.858C>A (p.Val286=)
c.324C>A (p.Val108=)
18g.31524732C=CA2293856803DSG2n.689C=
c.689C=
c.858C= (p.Val286=)
c.324C= (p.Val108=)
18g.31524732C>GCA503599250DSG2n.689C>G
c.689C>G
c.858C>G (p.Val286=)
c.324C>G (p.Val108=)
18g.31524732C>TCA503599251DSG2n.689C>T
c.689C>T
c.858C>T (p.Val286=)
c.324C>T (p.Val108=)
 ClinVar dbSNP gnomAD v4
18g.31524733A>CCA402135470DSG2n.690A>C
c.690A>C
c.859A>C (p.Asn287His)
c.325A>C (p.Asn109His)
18g.31524733A>GCA402135471DSG2n.690A>G
c.690A>G
c.859A>G (p.Asn287Asp)
c.325A>G (p.Asn109Asp)
18g.31524733A>TCA402135472DSG2n.690A>T
c.690A>T
c.859A>T (p.Asn287Tyr)
c.325A>T (p.Asn109Tyr)
18g.31524734dupCA988921017DSG2n.691dup
c.691dup
c.860dup (p.Asn287LysfsTer14)
c.326dup (p.Asn109LysfsTer14)
 dbSNP gnomAD v3 gnomAD v4
18g.31524734A=CA2293856809DSG2n.691A=
c.691A=
c.860A= (p.Asn287=)
c.326A= (p.Asn109=)
18g.31524734A>CCA402135477DSG2n.691A>C
c.691A>C
c.860A>C (p.Asn287Thr)
c.326A>C (p.Asn109Thr)
18g.31524734A>GCA402135475DSG2n.691A>G
c.691A>G
c.860A>G (p.Asn287Ser)
c.326A>G (p.Asn109Ser)
 dbSNP gnomAD v2 gnomAD v4
18g.31524734A>TCA402135473DSG2n.691A>T
c.691A>T
c.860A>T (p.Asn287Ile)
c.326A>T (p.Asn109Ile)
 gnomAD v4
18g.31524735C>ACA402135478DSG2n.692C>A
c.692C>A
c.861C>A (p.Asn287Lys)
c.327C>A (p.Asn109Lys)
18g.31524735C=CA2293856815DSG2n.692C=
c.692C=
c.861C= (p.Asn287=)
c.327C= (p.Asn109=)
18g.31524735C>GCA402135479DSG2n.692C>G
c.692C>G
c.861C>G (p.Asn287Lys)
c.327C>G (p.Asn109Lys)
18g.31524735C>TCA022299DSG2n.692C>T
c.692C>T
c.861C>T (p.Asn287=)
c.327C>T (p.Asn109=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524735_31524736delinsTCCA2573054647DSG2n.692_693delinsTC
c.692_693delinsTC
c.861_862delinsTC (p.Val288Leu)
c.327_328delinsTC (p.Val110Leu)
 ClinVar dbSNP
18g.31524735_31524737delinsCGTCA2293856819DSG2n.692_694delinsCGT
c.692_694delinsCGT
c.861_863delinsCGT (p.Asn287=)
c.327_329delinsCGT (p.Asn109=)
18g.31524735_31524737delinsTGGCA913188926DSG2n.692_694delinsTGG
c.692_694delinsTGG
c.861_863delinsTGG (p.Val288Gly)
c.327_329delinsTGG (p.Val110Gly)
 ClinVar dbSNP
18g.31524736G>ACA022303DSG2n.693G>A
c.693G>A
c.862G>A (p.Val288Ile)
c.328G>A (p.Val110Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524736G>CCA402135482DSG2n.693G>C
c.693G>C
c.862G>C (p.Val288Leu)
c.328G>C (p.Val110Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31524736G=CA2293856828DSG2n.693G=
c.693G=
c.862G= (p.Val288=)
c.328G= (p.Val110=)
18g.31524736G>TCA402135483DSG2n.693G>T
c.693G>T
c.862G>T (p.Val288Leu)
c.328G>T (p.Val110Leu)
18g.31524737T>ACA402135484DSG2n.694T>A
c.694T>A
c.863T>A (p.Val288Glu)
c.329T>A (p.Val110Glu)
18g.31524737T>CCA402135486DSG2n.694T>C
c.694T>C
c.863T>C (p.Val288Ala)
c.329T>C (p.Val110Ala)
18g.31524737T>GCA050316DSG2n.694T>G
c.694T>G
c.863T>G (p.Val288Gly)
c.329T>G (p.Val110Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524737T=CA2293856832DSG2n.694T=
c.694T=
c.863T= (p.Val288=)
c.329T= (p.Val110=)
18g.31524737dupCA2825002681DSG2n.694dup
c.694dup
c.863dup (p.Glu289ArgfsTer12)
c.329dup (p.Glu111ArgfsTer12)
 ClinVar
18g.31524738A>CCA503599254DSG2n.695A>C
c.695A>C
c.864A>C (p.Val288=)
c.330A>C (p.Val110=)
18g.31524738A>GCA503599253DSG2n.695A>G
c.695A>G
c.864A>G (p.Val288=)
c.330A>G (p.Val110=)
 gnomAD v4
18g.31524738A>TCA503599252DSG2n.695A>T
c.695A>T
c.864A>T (p.Val288=)
c.330A>T (p.Val110=)
 ClinVar
18g.31524739G>ACA402135488DSG2n.696G>A
c.696G>A
c.865G>A (p.Glu289Lys)
c.331G>A (p.Glu111Lys)
 gnomAD v4
18g.31524739G>CCA402135490DSG2n.696G>C
c.696G>C
c.865G>C (p.Glu289Gln)
c.331G>C (p.Glu111Gln)
18g.31524739G>TCA402135491DSG2n.696G>T
c.696G>T
c.865G>T (p.Glu289Ter)
c.331G>T (p.Glu111Ter)
18g.31524740A>CCA402135496DSG2n.697A>C
c.697A>C
c.866A>C (p.Glu289Ala)
c.332A>C (p.Glu111Ala)
18g.31524740A>GCA402135495DSG2n.697A>G
c.697A>G
c.866A>G (p.Glu289Gly)
c.332A>G (p.Glu111Gly)
18g.31524740A>TCA402135494DSG2n.697A>T
c.697A>T
c.866A>T (p.Glu289Val)
c.332A>T (p.Glu111Val)
 gnomAD v4
18g.31524741A>CCA402135500DSG2n.698A>C
c.698A>C
c.867A>C (p.Glu289Asp)
c.333A>C (p.Glu111Asp)
18g.31524741A>GCA503599255DSG2n.698A>G
c.698A>G
c.867A>G (p.Glu289=)
c.333A>G (p.Glu111=)
18g.31524741A>TCA402135499DSG2n.698A>T
c.698A>T
c.867A>T (p.Glu289Asp)
c.333A>T (p.Glu111Asp)
 ClinVar dbSNP
18g.31524742G>ACA402135501DSG2n.699G>A
c.699G>A
c.868G>A (p.Val290Ile)
c.334G>A (p.Val112Ile)
18g.31524742G>CCA402135503DSG2n.699G>C
c.699G>C
c.868G>C (p.Val290Leu)
c.334G>C (p.Val112Leu)
18g.31524742G>TCA402135505DSG2n.699G>T
c.699G>T
c.868G>T (p.Val290Phe)
c.334G>T (p.Val112Phe)
18g.31524743T>ACA402135506DSG2n.700T>A
c.700T>A
c.869T>A (p.Val290Asp)
c.335T>A (p.Val112Asp)
18g.31524743T>CCA402135508DSG2n.700T>C
c.700T>C
c.869T>C (p.Val290Ala)
c.335T>C (p.Val112Ala)
18g.31524743T>GCA402135510DSG2n.700T>G
c.700T>G
c.869T>G (p.Val290Gly)
c.335T>G (p.Val112Gly)
 ClinVar dbSNP
18g.31524744T>ACA503599256DSG2n.701T>A
c.701T>A
c.870T>A (p.Val290=)
c.336T>A (p.Val112=)
18g.31524744T>CCA050329DSG2n.701T>C
c.701T>C
c.870T>C (p.Val290=)
c.336T>C (p.Val112=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31524744T>GCA503599257DSG2n.701T>G
c.701T>G
c.870T>G (p.Val290=)
c.336T>G (p.Val112=)
18g.31524744T=CA2293856833DSG2n.701T=
c.701T=
c.870T= (p.Val290=)
c.336T= (p.Val112=)
18g.31524745A>CCA402135512DSG2n.702A>C
c.702A>C
c.871A>C (p.Thr291Pro)
c.337A>C (p.Thr113Pro)
18g.31524745A>GCA402135514DSG2n.702A>G
c.702A>G
c.871A>G (p.Thr291Ala)
c.337A>G (p.Thr113Ala)
18g.31524745A>TCA402135516DSG2n.702A>T
c.702A>T
c.871A>T (p.Thr291Ser)
c.337A>T (p.Thr113Ser)
18g.31524745dupCA297732146DSG2n.702dup
c.702dup
c.871dup (p.Thr291AsnfsTer10)
c.337dup (p.Thr113AsnfsTer10)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31524746C>ACA402135518DSG2n.703C>A
c.703C>A
c.872C>A (p.Thr291Lys)
c.338C>A (p.Thr113Lys)
18g.31524746C=CA2293856839DSG2n.703C=
c.703C=
c.872C= (p.Thr291=)
c.338C= (p.Thr113=)
18g.31524746C>GCA402135519DSG2n.703C>G
c.703C>G
c.872C>G (p.Thr291Arg)
c.338C>G (p.Thr113Arg)
 dbSNP gnomAD v2 gnomAD v4
18g.31524746C>TCA050339DSG2n.703C>T
c.703C>T
c.872C>T (p.Thr291Met)
c.338C>T (p.Thr113Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524747G>ACA050346DSG2n.704G>A
c.704G>A
c.873G>A (p.Thr291=)
c.339G>A (p.Thr113=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.31524747G>CCA503599258DSG2n.704G>C
c.704G>C
c.873G>C (p.Thr291=)
c.339G>C (p.Thr113=)
 ClinVar dbSNP
18g.31524747G=CA2293856843DSG2n.704G=
c.704G=
c.873G= (p.Thr291=)
c.339G= (p.Thr113=)
18g.31524747G>TCA503599259DSG2n.704G>T
c.704G>T
c.873G>T (p.Thr291=)
c.339G>T (p.Thr113=)
18g.31524748C>ACA402135522DSG2n.705C>A
c.705C>A
c.874C>A (p.Arg292Ser)
c.340C>A (p.Arg114Ser)
18g.31524748C=CA2293856846DSG2n.705C=
c.705C=
c.874C= (p.Arg292=)
c.340C= (p.Arg114=)
18g.31524748C>GCA402135523DSG2n.705C>G
c.705C>G
c.874C>G (p.Arg292Gly)
c.340C>G (p.Arg114Gly)
18g.31524748C>TCA050352DSG2n.705C>T
c.705C>T
c.874C>T (p.Arg292Cys)
c.340C>T (p.Arg114Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.31524749G>ACA022326DSG2n.706G>A
c.706G>A
c.875G>A (p.Arg292His)
c.341G>A (p.Arg114His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524749G>CCA402135527DSG2n.706G>C
c.706G>C
c.875G>C (p.Arg292Pro)
c.341G>C (p.Arg114Pro)
18g.31524749G=CA2293856851DSG2n.706G=
c.706G=
c.875G= (p.Arg292=)
c.341G= (p.Arg114=)
18g.31524749G>TCA022332DSG2n.706G>T
c.706G>T
c.875G>T (p.Arg292Leu)
c.341G>T (p.Arg114Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31524750C>ACA503599260DSG2n.707C>A
c.707C>A
c.876C>A (p.Arg292=)
c.342C>A (p.Arg114=)
18g.31524750C=CA2293856856DSG2n.707C=
c.707C=
c.876C= (p.Arg292=)
c.342C= (p.Arg114=)
18g.31524750C>GCA503599261DSG2n.707C>G
c.707C>G
c.876C>G (p.Arg292=)
c.342C>G (p.Arg114=)
18g.31524750C>TCA503599262DSG2n.707C>T
c.707C>T
c.876C>T (p.Arg292=)
c.342C>T (p.Arg114=)
 dbSNP gnomAD v4
18g.31524750_31524751delinsTGCA2739268639DSG2n.707_708delinsTG
c.707_708delinsTG
c.876_877delinsTG (p.Ile293Val)
c.342_343delinsTG (p.Ile115Val)
 ClinVar
18g.31524751A=CA2293856862DSG2n.708A=
c.708A=
c.877A= (p.Ile293=)
c.343A= (p.Ile115=)
18g.31524751A>CCA402135529DSG2n.708A>C
c.708A>C
c.877A>C (p.Ile293Leu)
c.343A>C (p.Ile115Leu)
18g.31524751A>GCA022337DSG2n.708A>G
c.708A>G
c.877A>G (p.Ile293Val)
c.343A>G (p.Ile115Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524751A>TCA022342DSG2n.708A>T
c.708A>T
c.877A>T (p.Ile293Leu)
c.343A>T (p.Ile115Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524752T>ACA402135532DSG2n.709T>A
c.709T>A
c.878T>A (p.Ile293Lys)
c.344T>A (p.Ile115Lys)
 gnomAD v4
18g.31524752T>CCA402135534DSG2n.709T>C
c.709T>C
c.878T>C (p.Ile293Thr)
c.344T>C (p.Ile115Thr)
18g.31524752T>GCA402135535DSG2n.709T>G
c.709T>G
c.878T>G (p.Ile293Arg)
c.344T>G (p.Ile115Arg)
18g.31524752T=CA2293856867DSG2n.709T=
c.709T=
c.878T= (p.Ile293=)
c.344T= (p.Ile115=)
18g.31524753A=CA2293856871DSG2n.710A=
c.710A=
c.879A= (p.Ile293=)
c.345A= (p.Ile115=)
18g.31524753A>CCA503599263DSG2n.710A>C
c.710A>C
c.879A>C (p.Ile293=)
c.345A>C (p.Ile115=)
18g.31524753A>GCA402135537DSG2n.710A>G
c.710A>G
c.879A>G (p.Ile293Met)
c.345A>G (p.Ile115Met)
 dbSNP gnomAD v2 gnomAD v4
18g.31524753A>TCA503599264DSG2n.710A>T
c.710A>T
c.879A>T (p.Ile293=)
c.345A>T (p.Ile115=)
18g.31524756dupCA629453638DSG2n.713dup
c.713dup
c.882dup (p.Val295SerfsTer6)
c.348dup (p.Val117SerfsTer6)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched