Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.28016105delCA2695219848OCA2c.889del (p.Arg297GlufsTer21)
c.655del
c.913del (p.Arg305GlufsTer21)
n.2274del
c.718del (p.Arg240GlufsTer21)
n.1002del
15g.28016105T>ACA391365279OCA2c.889A>T (p.Arg297Ter)
c.655A>T
c.913A>T (p.Arg305Ter)
n.2274A>T
c.718A>T (p.Arg240Ter)
n.1002A>T
15g.28016105T>CCA391365280OCA2c.889A>G (p.Arg297Gly)
c.655A>G
c.913A>G (p.Arg305Gly)
n.2274A>G
c.718A>G (p.Arg240Gly)
n.1002A>G
15g.28016105T>GCA267908267OCA2c.889A>C (p.Arg297=)
c.655A>C
c.913A>C (p.Arg305=)
n.2274A>C
c.718A>C (p.Arg240=)
n.1002A>C
 dbSNP gnomAD v3 gnomAD v4
15g.28016105T=CA2166415767OCA2c.889A= (p.Arg297=)
c.655A=
c.913A= (p.Arg305=)
n.2274A=
c.718A= (p.Arg240=)
n.1002A=
15g.28016106G>ACA488959552OCA2c.888C>T (p.Thr296=)
c.654C>T (p.Thr218=)
c.912C>T (p.Thr304=)
n.2273C>T
c.717C>T (p.Thr239=)
n.1001C>T
 dbSNP gnomAD v2 gnomAD v4
15g.28016106G>CCA488959553OCA2c.888C>G (p.Thr296=)
c.654C>G (p.Thr218=)
c.912C>G (p.Thr304=)
n.2273C>G
c.717C>G (p.Thr239=)
n.1001C>G
15g.28016106G=CA2166415770OCA2c.888C= (p.Thr296=)
c.654C= (p.Thr218=)
c.912C= (p.Thr304=)
n.2273C=
c.717C= (p.Thr239=)
n.1001C=
15g.28016106G>TCA488959554OCA2c.888C>A (p.Thr296=)
c.654C>A (p.Thr218=)
c.912C>A (p.Thr304=)
n.2273C>A
c.717C>A (p.Thr239=)
n.1001C>A
15g.28016107G>ACA391365282OCA2c.887C>T (p.Thr296Ile)
c.653C>T (p.Thr218Ile)
c.911C>T (p.Thr304Ile)
n.2272C>T
c.716C>T (p.Thr239Ile)
n.1000C>T
15g.28016107G>CCA391365283OCA2c.887C>G (p.Thr296Ser)
c.653C>G (p.Thr218Ser)
c.911C>G (p.Thr304Ser)
n.2272C>G
c.716C>G (p.Thr239Ser)
n.1000C>G
15g.28016107G>TCA391365281OCA2c.887C>A (p.Thr296Asn)
c.653C>A (p.Thr218Asn)
c.911C>A (p.Thr304Asn)
n.2272C>A
c.716C>A (p.Thr239Asn)
n.1000C>A
 gnomAD v4
15g.28016108T>ACA391365285OCA2c.886A>T (p.Thr296Ser)
c.652A>T (p.Thr218Ser)
c.910A>T (p.Thr304Ser)
n.2271A>T
c.715A>T (p.Thr239Ser)
n.999A>T
15g.28016108T>CCA391365284OCA2c.886A>G (p.Thr296Ala)
c.652A>G (p.Thr218Ala)
c.910A>G (p.Thr304Ala)
n.2271A>G
c.715A>G (p.Thr239Ala)
n.999A>G
15g.28016108T>GCA391365286OCA2c.886A>C (p.Thr296Pro)
c.652A>C (p.Thr218Pro)
c.910A>C (p.Thr304Pro)
n.2271A>C
c.715A>C (p.Thr239Pro)
n.999A>C
15g.28016111_28016134delCA2695219849OCA2c.863_886del (p.Met288_Leu295del)
c.629_652del (p.Met210_Leu217del)
c.887_910del (p.Met296_Leu303del)
n.2248_2271del
c.692_715del (p.Met231_Leu238del)
n.976_999del
15g.28016109C>ACA488959557OCA2c.885G>T (p.Leu295=)
c.651G>T (p.Leu217=)
c.909G>T (p.Leu303=)
n.2270G>T
c.714G>T (p.Leu238=)
n.998G>T
15g.28016109C=CA2166415772OCA2c.885G= (p.Leu295=)
c.651G= (p.Leu217=)
c.909G= (p.Leu303=)
n.2270G=
c.714G= (p.Leu238=)
n.998G=
15g.28016109C>GCA488959559OCA2c.885G>C (p.Leu295=)
c.651G>C (p.Leu217=)
c.909G>C (p.Leu303=)
n.2270G>C
c.714G>C (p.Leu238=)
n.998G>C
 ClinVar dbSNP
15g.28016109C>TCA488959560OCA2c.885G>A (p.Leu295=)
c.651G>A (p.Leu217=)
c.909G>A (p.Leu303=)
n.2270G>A
c.714G>A (p.Leu238=)
n.998G>A
 ClinVar dbSNP
15g.28016110A>CCA391365287OCA2c.884T>G (p.Leu295Arg)
c.650T>G (p.Leu217Arg)
c.908T>G (p.Leu303Arg)
n.2269T>G
c.713T>G (p.Leu238Arg)
n.997T>G
15g.28016110A>GCA391365289OCA2c.884T>C (p.Leu295Pro)
c.650T>C (p.Leu217Pro)
c.908T>C (p.Leu303Pro)
n.2269T>C
c.713T>C (p.Leu238Pro)
n.997T>C
15g.28016110A>TCA391365288OCA2c.884T>A (p.Leu295Gln)
c.650T>A (p.Leu217Gln)
c.908T>A (p.Leu303Gln)
n.2269T>A
c.713T>A (p.Leu238Gln)
n.997T>A
15g.28016111G>ACA488959561OCA2c.883C>T (p.Leu295=)
c.649C>T (p.Leu217=)
c.907C>T (p.Leu303=)
n.2268C>T
c.712C>T (p.Leu238=)
n.996C>T
 ClinVar
15g.28016111G>CCA391365290OCA2c.883C>G (p.Leu295Val)
c.649C>G (p.Leu217Val)
c.907C>G (p.Leu303Val)
n.2268C>G
c.712C>G (p.Leu238Val)
n.996C>G
15g.28016111G>TCA391365291OCA2c.883C>A (p.Leu295Met)
c.649C>A (p.Leu217Met)
c.907C>A (p.Leu303Met)
n.2268C>A
c.712C>A (p.Leu238Met)
n.996C>A
15g.28016112T>ACA488959563OCA2c.882A>T (p.Val294=)
c.648A>T (p.Val216=)
c.906A>T (p.Val302=)
n.2267A>T
c.711A>T (p.Val237=)
n.995A>T
15g.28016112T>CCA488959564OCA2c.882A>G (p.Val294=)
c.648A>G (p.Val216=)
c.906A>G (p.Val302=)
n.2267A>G
c.711A>G (p.Val237=)
n.995A>G
 ClinVar
15g.28016112T>GCA488959565OCA2c.882A>C (p.Val294=)
c.648A>C (p.Val216=)
c.906A>C (p.Val302=)
n.2267A>C
c.711A>C (p.Val237=)
n.995A>C
15g.28016113A>CCA391365292OCA2c.881T>G (p.Val294Gly)
c.647T>G (p.Val216Gly)
c.905T>G (p.Val302Gly)
n.2266T>G
c.710T>G (p.Val237Gly)
n.994T>G
15g.28016113A>GCA391365293OCA2c.881T>C (p.Val294Ala)
c.647T>C (p.Val216Ala)
c.905T>C (p.Val302Ala)
n.2266T>C
c.710T>C (p.Val237Ala)
n.994T>C
15g.28016113A>TCA391365294OCA2c.881T>A (p.Val294Glu)
c.647T>A (p.Val216Glu)
c.905T>A (p.Val302Glu)
n.2266T>A
c.710T>A (p.Val237Glu)
n.994T>A
15g.28016114C>ACA391365295OCA2c.880G>T (p.Val294Leu)
c.646G>T (p.Val216Leu)
c.904G>T (p.Val302Leu)
n.2265G>T
c.709G>T (p.Val237Leu)
n.993G>T
15g.28016114C=CA2166415774OCA2c.880G= (p.Val294=)
c.646G= (p.Val216=)
c.904G= (p.Val302=)
n.2265G=
c.709G= (p.Val237=)
n.993G=
15g.28016114C>GCA391365296OCA2c.880G>C (p.Val294Leu)
c.646G>C (p.Val216Leu)
c.904G>C (p.Val302Leu)
n.2265G>C
c.709G>C (p.Val237Leu)
n.993G>C
15g.28016114C>TCA391365297OCA2c.880G>A (p.Val294Ile)
c.646G>A (p.Val216Ile)
c.904G>A (p.Val302Ile)
n.2265G>A
c.709G>A (p.Val237Ile)
n.993G>A
 dbSNP gnomAD v2 gnomAD v4
15g.28016115C>ACA7439318OCA2c.879G>T (p.Glu293Asp)
c.645G>T (p.Glu215Asp)
c.903G>T (p.Glu301Asp)
n.2264G>T
c.708G>T (p.Glu236Asp)
n.992G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.28016115C=CA2166415777OCA2c.879G= (p.Glu293=)
c.645G= (p.Glu215=)
c.903G= (p.Glu301=)
n.2264G=
c.708G= (p.Glu236=)
n.992G=
15g.28016115C>GCA391365298OCA2c.879G>C (p.Glu293Asp)
c.645G>C (p.Glu215Asp)
c.903G>C (p.Glu301Asp)
n.2264G>C
c.708G>C (p.Glu236Asp)
n.992G>C
15g.28016115C>TCA488959567OCA2c.879G>A (p.Glu293=)
c.645G>A (p.Glu215=)
c.903G>A (p.Glu301=)
n.2264G>A
c.708G>A (p.Glu236=)
n.992G>A
 dbSNP gnomAD v4
15g.28016116T>ACA391365299OCA2c.878A>T (p.Glu293Val)
c.644A>T (p.Glu215Val)
c.902A>T (p.Glu301Val)
n.2263A>T
c.707A>T (p.Glu236Val)
n.991A>T
15g.28016116T>CCA7439319OCA2c.878A>G (p.Glu293Gly)
c.644A>G (p.Glu215Gly)
c.902A>G (p.Glu301Gly)
n.2263A>G
c.707A>G (p.Glu236Gly)
n.991A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28016116T>GCA391365300OCA2c.878A>C (p.Glu293Ala)
c.644A>C (p.Glu215Ala)
c.902A>C (p.Glu301Ala)
n.2263A>C
c.707A>C (p.Glu236Ala)
n.991A>C
15g.28016116T=CA2166415780OCA2c.878A= (p.Glu293=)
c.644A= (p.Glu215=)
c.902A= (p.Glu301=)
n.2263A=
c.707A= (p.Glu236=)
n.991A=
15g.28016117C>ACA391365303OCA2c.877G>T (p.Glu293Ter)
c.643G>T (p.Glu215Ter)
c.901G>T (p.Glu301Ter)
n.2262G>T
c.706G>T (p.Glu236Ter)
n.990G>T
15g.28016117C>GCA391365302OCA2c.877G>C (p.Glu293Gln)
c.643G>C (p.Glu215Gln)
c.901G>C (p.Glu301Gln)
n.2262G>C
c.706G>C (p.Glu236Gln)
n.990G>C
15g.28016117C>TCA391365301OCA2c.877G>A (p.Glu293Lys)
c.643G>A (p.Glu215Lys)
c.901G>A (p.Glu301Lys)
n.2262G>A
c.706G>A (p.Glu236Lys)
n.990G>A
 gnomAD v4
15g.28016118A>CCA391365304OCA2c.876T>G (p.Phe292Leu)
c.642T>G (p.Phe214Leu)
c.900T>G (p.Phe300Leu)
n.2261T>G
c.705T>G (p.Phe235Leu)
n.989T>G
15g.28016118A>GCA488959572OCA2c.876T>C (p.Phe292=)
c.642T>C (p.Phe214=)
c.900T>C (p.Phe300=)
n.2261T>C
c.705T>C (p.Phe235=)
n.989T>C
15g.28016118A>TCA391365305OCA2c.876T>A (p.Phe292Leu)
c.642T>A (p.Phe214Leu)
c.900T>A (p.Phe300Leu)
n.2261T>A
c.705T>A (p.Phe235Leu)
n.989T>A
15g.28016119A>CCA391365306OCA2c.875T>G (p.Phe292Cys)
c.641T>G (p.Phe214Cys)
c.899T>G (p.Phe300Cys)
n.2260T>G
c.704T>G (p.Phe235Cys)
n.988T>G
15g.28016119A>GCA391365307OCA2c.875T>C (p.Phe292Ser)
c.641T>C (p.Phe214Ser)
c.899T>C (p.Phe300Ser)
n.2260T>C
c.704T>C (p.Phe235Ser)
n.988T>C
15g.28016119A>TCA391365308OCA2c.875T>A (p.Phe292Tyr)
c.641T>A (p.Phe214Tyr)
c.899T>A (p.Phe300Tyr)
n.2260T>A
c.704T>A (p.Phe235Tyr)
n.988T>A
15g.28016120A=CA2166415782OCA2c.874T= (p.Phe292=)
c.640T= (p.Phe214=)
c.898T= (p.Phe300=)
n.2259T=
c.703T= (p.Phe235=)
n.987T=
15g.28016120A>CCA391365309OCA2c.874T>G (p.Phe292Val)
c.640T>G (p.Phe214Val)
c.898T>G (p.Phe300Val)
n.2259T>G
c.703T>G (p.Phe235Val)
n.987T>G
15g.28016120A>GCA7439320OCA2c.874T>C (p.Phe292Leu)
c.640T>C (p.Phe214Leu)
c.898T>C (p.Phe300Leu)
n.2259T>C
c.703T>C (p.Phe235Leu)
n.987T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28016120A>TCA391365310OCA2c.874T>A (p.Phe292Ile)
c.640T>A (p.Phe214Ile)
c.898T>A (p.Phe300Ile)
n.2259T>A
c.703T>A (p.Phe235Ile)
n.987T>A
15g.28016121G>ACA488959573OCA2c.873C>T (p.Thr291=)
c.639C>T (p.Thr213=)
c.897C>T (p.Thr299=)
n.2258C>T
c.702C>T (p.Thr234=)
n.986C>T
 COSMIC COSMIC
15g.28016121G>CCA488959574OCA2c.873C>G (p.Thr291=)
c.639C>G (p.Thr213=)
c.897C>G (p.Thr299=)
n.2258C>G
c.702C>G (p.Thr234=)
n.986C>G
15g.28016121G>TCA488959575OCA2c.873C>A (p.Thr291=)
c.639C>A (p.Thr213=)
c.897C>A (p.Thr299=)
n.2258C>A
c.702C>A (p.Thr234=)
n.986C>A
15g.28016122G>ACA391365311OCA2c.872C>T (p.Thr291Ile)
c.638C>T (p.Thr213Ile)
c.896C>T (p.Thr299Ile)
n.2257C>T
c.701C>T (p.Thr234Ile)
n.985C>T
 ClinVar dbSNP
15g.28016122G>CCA391365312OCA2c.872C>G (p.Thr291Ser)
c.638C>G (p.Thr213Ser)
c.896C>G (p.Thr299Ser)
n.2257C>G
c.701C>G (p.Thr234Ser)
n.985C>G
15g.28016122G>TCA391365313OCA2c.872C>A (p.Thr291Asn)
c.638C>A (p.Thr213Asn)
c.896C>A (p.Thr299Asn)
n.2257C>A
c.701C>A (p.Thr234Asn)
n.985C>A
15g.28016123T>ACA391365316OCA2c.871A>T (p.Thr291Ser)
c.637A>T (p.Thr213Ser)
c.895A>T (p.Thr299Ser)
n.2256A>T
c.700A>T (p.Thr234Ser)
n.984A>T
15g.28016123T>CCA391365315OCA2c.871A>G (p.Thr291Ala)
c.637A>G (p.Thr213Ala)
c.895A>G (p.Thr299Ala)
n.2256A>G
c.700A>G (p.Thr234Ala)
n.984A>G
15g.28016123T>GCA391365314OCA2c.871A>C (p.Thr291Pro)
c.637A>C (p.Thr213Pro)
c.895A>C (p.Thr299Pro)
n.2256A>C
c.700A>C (p.Thr234Pro)
n.984A>C
15g.28016124C>ACA391365317OCA2c.870G>T (p.Arg290Ser)
c.636G>T (p.Arg212Ser)
c.894G>T (p.Arg298Ser)
n.2255G>T
c.699G>T (p.Arg233Ser)
n.983G>T
15g.28016124C=CA2166415785OCA2c.870G= (p.Arg290=)
c.636G= (p.Arg212=)
c.894G= (p.Arg298=)
n.2255G=
c.699G= (p.Arg233=)
n.983G=
15g.28016124C>GCA391365318OCA2c.870G>C (p.Arg290Ser)
c.636G>C (p.Arg212Ser)
c.894G>C (p.Arg298Ser)
n.2255G>C
c.699G>C (p.Arg233Ser)
n.983G>C
 gnomAD v4
15g.28016124C>TCA488959579OCA2c.870G>A (p.Arg290=)
c.636G>A (p.Arg212=)
c.894G>A (p.Arg298=)
n.2255G>A
c.699G>A (p.Arg233=)
n.983G>A
 ClinVar dbSNP
15g.28016125C>ACA391365319OCA2c.869G>T (p.Arg290Met)
c.635G>T (p.Arg212Met)
c.893G>T (p.Arg298Met)
n.2254G>T
c.698G>T (p.Arg233Met)
n.982G>T
15g.28016125C=CA2166415787OCA2c.869G= (p.Arg290=)
c.635G= (p.Arg212=)
c.893G= (p.Arg298=)
n.2254G=
c.698G= (p.Arg233=)
n.982G=
15g.28016125C>GCA391365320OCA2c.869G>C (p.Arg290Thr)
c.635G>C (p.Arg212Thr)
c.893G>C (p.Arg298Thr)
n.2254G>C
c.698G>C (p.Arg233Thr)
n.982G>C
15g.28016125C>TCA391365321OCA2c.869G>A (p.Arg290Lys)
c.635G>A (p.Arg212Lys)
c.893G>A (p.Arg298Lys)
n.2254G>A
c.698G>A (p.Arg233Lys)
n.982G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.28016126T>ACA391365322OCA2c.868A>T (p.Arg290Trp)
c.634A>T (p.Arg212Trp)
c.892A>T (p.Arg298Trp)
n.2253A>T
c.697A>T (p.Arg233Trp)
n.981A>T
15g.28016126T>CCA7439321OCA2c.868A>G (p.Arg290Gly)
c.634A>G (p.Arg212Gly)
c.892A>G (p.Arg298Gly)
n.2253A>G
c.697A>G (p.Arg233Gly)
n.981A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28016126T>GCA488959580OCA2c.868A>C (p.Arg290=)
c.634A>C (p.Arg212=)
c.892A>C (p.Arg298=)
n.2253A>C
c.697A>C (p.Arg233=)
n.981A>C
15g.28016126T=CA2166415789OCA2c.868A= (p.Arg290=)
c.634A= (p.Arg212=)
c.892A= (p.Arg298=)
n.2253A=
c.697A= (p.Arg233=)
n.981A=
15g.28016126_28016127delinsTGCA2166415791OCA2c.867_868delinsCA (p.Ser289=)
c.633_634delinsCA (p.Ser211=)
c.891_892delinsCA (p.Ser297=)
n.2252_2253delinsCA
c.696_697delinsCA (p.Ser232=)
n.980_981delinsCA
15g.28016127delCA275422OCA2c.867del (p.Ser289ArgfsTer7)
c.633del (p.Ser211ArgfsTer7)
c.891del (p.Ser297ArgfsTer7)
n.2252del
c.696del (p.Ser232ArgfsTer7)
n.980del
 ClinVar dbSNP
15g.28016127G>ACA488959582OCA2c.867C>T (p.Ser289=)
c.633C>T (p.Ser211=)
c.891C>T (p.Ser297=)
n.2252C>T
c.696C>T (p.Ser232=)
n.980C>T
 ClinVar dbSNP gnomAD v4
15g.28016127G>CCA7439322OCA2c.867C>G (p.Ser289Arg)
c.633C>G (p.Ser211Arg)
c.891C>G (p.Ser297Arg)
n.2252C>G
c.696C>G (p.Ser232Arg)
n.980C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28016127G=CA2166415795OCA2c.867C= (p.Ser289=)
c.633C= (p.Ser211=)
c.891C= (p.Ser297=)
n.2252C=
c.696C= (p.Ser232=)
n.980C=
15g.28016127G>TCA391365323OCA2c.867C>A (p.Ser289Arg)
c.633C>A (p.Ser211Arg)
c.891C>A (p.Ser297Arg)
n.2252C>A
c.696C>A (p.Ser232Arg)
n.980C>A
15g.28016128C>ACA391365324OCA2c.866G>T (p.Ser289Ile)
c.632G>T (p.Ser211Ile)
c.890G>T (p.Ser297Ile)
n.2251G>T
c.695G>T (p.Ser232Ile)
n.979G>T
15g.28016128C>GCA391365325OCA2c.866G>C (p.Ser289Thr)
c.632G>C (p.Ser211Thr)
c.890G>C (p.Ser297Thr)
n.2251G>C
c.695G>C (p.Ser232Thr)
n.979G>C
15g.28016128C>TCA391365326OCA2c.866G>A (p.Ser289Asn)
c.632G>A (p.Ser211Asn)
c.890G>A (p.Ser297Asn)
n.2251G>A
c.695G>A (p.Ser232Asn)
n.979G>A
15g.28016129T>ACA391365327OCA2c.865A>T (p.Ser289Cys)
c.631A>T (p.Ser211Cys)
c.889A>T (p.Ser297Cys)
n.2250A>T
c.694A>T (p.Ser232Cys)
n.978A>T
15g.28016129T>CCA391365329OCA2c.865A>G (p.Ser289Gly)
c.631A>G (p.Ser211Gly)
c.889A>G (p.Ser297Gly)
n.2250A>G
c.694A>G (p.Ser232Gly)
n.978A>G
15g.28016129T>GCA391365328OCA2c.865A>C (p.Ser289Arg)
c.631A>C (p.Ser211Arg)
c.889A>C (p.Ser297Arg)
n.2250A>C
c.694A>C (p.Ser232Arg)
n.978A>C
15g.28016130C>ACA391365330OCA2c.864G>T (p.Met288Ile)
c.630G>T (p.Met210Ile)
c.888G>T (p.Met296Ile)
n.2249G>T
c.693G>T (p.Met231Ile)
n.977G>T
15g.28016130C>GCA391365331OCA2c.864G>C (p.Met288Ile)
c.630G>C (p.Met210Ile)
c.888G>C (p.Met296Ile)
n.2249G>C
c.693G>C (p.Met231Ile)
n.977G>C
15g.28016130C>TCA391365332OCA2c.864G>A (p.Met288Ile)
c.630G>A (p.Met210Ile)
c.888G>A (p.Met296Ile)
n.2249G>A
c.693G>A (p.Met231Ile)
n.977G>A
15g.28016131A>CCA391365333OCA2c.863T>G (p.Met288Arg)
c.629T>G (p.Met210Arg)
c.887T>G (p.Met296Arg)
n.2248T>G
c.692T>G (p.Met231Arg)
n.976T>G
15g.28016131A>GCA391365334OCA2c.863T>C (p.Met288Thr)
c.629T>C (p.Met210Thr)
c.887T>C (p.Met296Thr)
n.2248T>C
c.692T>C (p.Met231Thr)
n.976T>C
 gnomAD v4
15g.28016131A>TCA391365335OCA2c.863T>A (p.Met288Lys)
c.629T>A (p.Met210Lys)
c.887T>A (p.Met296Lys)
n.2248T>A
c.692T>A (p.Met231Lys)
n.976T>A
15g.28016132T>ACA391365336OCA2c.862A>T (p.Met288Leu)
c.628A>T (p.Met210Leu)
c.886A>T (p.Met296Leu)
n.2247A>T
c.691A>T (p.Met231Leu)
n.975A>T
15g.28016132T>CCA391365337OCA2c.862A>G (p.Met288Val)
c.628A>G (p.Met210Val)
c.886A>G (p.Met296Val)
n.2247A>G
c.691A>G (p.Met231Val)
n.975A>G
 dbSNP
15g.28016132T>GCA391365338OCA2c.862A>C (p.Met288Leu)
c.628A>C (p.Met210Leu)
c.886A>C (p.Met296Leu)
n.2247A>C
c.691A>C (p.Met231Leu)
n.975A>C
15g.28016132T=CA2166415798OCA2c.862A= (p.Met288=)
c.628A= (p.Met210=)
c.886A= (p.Met296=)
n.2247A=
c.691A= (p.Met231=)
n.975A=
15g.28016133C>ACA488959584OCA2c.861G>T (p.Val287=)
c.627G>T (p.Val209=)
c.885G>T (p.Val295=)
n.2246G>T
c.690G>T (p.Val230=)
n.974G>T
15g.28016133C=CA2166415802OCA2c.861G= (p.Val287=)
c.627G= (p.Val209=)
c.885G= (p.Val295=)
n.2246G=
c.690G= (p.Val230=)
n.974G=
15g.28016133C>GCA488959585OCA2c.861G>C (p.Val287=)
c.627G>C (p.Val209=)
c.885G>C (p.Val295=)
n.2246G>C
c.690G>C (p.Val230=)
n.974G>C
 COSMIC COSMIC
15g.28016133C>TCA7439323OCA2c.861G>A (p.Val287=)
c.627G>A (p.Val209=)
c.885G>A (p.Val295=)
n.2246G>A
c.690G>A (p.Val230=)
n.974G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28016134A>CCA391365340OCA2c.860T>G (p.Val287Gly)
c.626T>G (p.Val209Gly)
c.884T>G (p.Val295Gly)
n.2245T>G
c.689T>G (p.Val230Gly)
n.973T>G
15g.28016134A>GCA391365341OCA2c.860T>C (p.Val287Ala)
c.626T>C (p.Val209Ala)
c.884T>C (p.Val295Ala)
n.2245T>C
c.689T>C (p.Val230Ala)
n.973T>C
 gnomAD v4
15g.28016134A>TCA391365339OCA2c.860T>A (p.Val287Glu)
c.626T>A (p.Val209Glu)
c.884T>A (p.Val295Glu)
n.2245T>A
c.689T>A (p.Val230Glu)
n.973T>A
15g.28016135C>ACA391365344OCA2c.859G>T (p.Val287Leu)
c.625G>T (p.Val209Leu)
c.883G>T (p.Val295Leu)
n.2244G>T
c.688G>T (p.Val230Leu)
n.972G>T
15g.28016135C=CA2166415805OCA2c.859G= (p.Val287=)
c.625G= (p.Val209=)
c.883G= (p.Val295=)
n.2244G=
c.688G= (p.Val230=)
n.972G=
15g.28016135C>GCA391365342OCA2c.859G>C (p.Val287Leu)
c.625G>C (p.Val209Leu)
c.883G>C (p.Val295Leu)
n.2244G>C
c.688G>C (p.Val230Leu)
n.972G>C
 dbSNP gnomAD v3 gnomAD v4
15g.28016135C>TCA391365343OCA2c.859G>A (p.Val287Met)
c.625G>A (p.Val209Met)
c.883G>A (p.Val295Met)
n.2244G>A
c.688G>A (p.Val230Met)
n.972G>A
15g.28016136T>ACA488959589OCA2c.858A>T (p.Ser286=)
c.624A>T (p.Ser208=)
c.882A>T (p.Ser294=)
n.2243A>T
c.687A>T (p.Ser229=)
n.971A>T
15g.28016136T>CCA488959590OCA2c.858A>G (p.Ser286=)
c.624A>G (p.Ser208=)
c.882A>G (p.Ser294=)
n.2243A>G
c.687A>G (p.Ser229=)
n.971A>G
 dbSNP gnomAD v4
15g.28016136T>GCA488959591OCA2c.858A>C (p.Ser286=)
c.624A>C (p.Ser208=)
c.882A>C (p.Ser294=)
n.2243A>C
c.687A>C (p.Ser229=)
n.971A>C
 gnomAD v4
15g.28016136T=CA2166415807OCA2c.858A= (p.Ser286=)
c.624A= (p.Ser208=)
c.882A= (p.Ser294=)
n.2243A=
c.687A= (p.Ser229=)
n.971A=
15g.28016137G>ACA391365345OCA2c.857C>T (p.Ser286Leu)
c.623C>T (p.Ser208Leu)
c.881C>T (p.Ser294Leu)
n.2242C>T
c.686C>T (p.Ser229Leu)
n.970C>T
15g.28016137G>CCA391365346OCA2c.857C>G (p.Ser286Ter)
c.623C>G (p.Ser208Ter)
c.881C>G (p.Ser294Ter)
n.2242C>G
c.686C>G (p.Ser229Ter)
n.970C>G
15g.28016137G>TCA391365347OCA2c.857C>A (p.Ser286Ter)
c.623C>A (p.Ser208Ter)
c.881C>A (p.Ser294Ter)
n.2242C>A
c.686C>A (p.Ser229Ter)
n.970C>A
15g.28016138A>CCA391365348OCA2c.856T>G (p.Ser286Ala)
c.622T>G (p.Ser208Ala)
c.880T>G (p.Ser294Ala)
n.2241T>G
c.685T>G (p.Ser229Ala)
n.969T>G
15g.28016138A>GCA391365349OCA2c.856T>C (p.Ser286Pro)
c.622T>C (p.Ser208Pro)
c.880T>C (p.Ser294Pro)
n.2241T>C
c.685T>C (p.Ser229Pro)
n.969T>C
15g.28016138A>TCA391365350OCA2c.856T>A (p.Ser286Thr)
c.622T>A (p.Ser208Thr)
c.880T>A (p.Ser294Thr)
n.2241T>A
c.685T>A (p.Ser229Thr)
n.969T>A
15g.28016139G>ACA488959592OCA2c.855C>T (p.His285=)
c.621C>T (p.His207=)
c.879C>T (p.His293=)
n.2240C>T
c.684C>T (p.His228=)
n.968C>T
15g.28016139G>CCA391365351OCA2c.855C>G (p.His285Gln)
c.621C>G (p.His207Gln)
c.879C>G (p.His293Gln)
n.2240C>G
c.684C>G (p.His228Gln)
n.968C>G
 gnomAD v4
15g.28016139G>TCA391365352OCA2c.855C>A (p.His285Gln)
c.621C>A (p.His207Gln)
c.879C>A (p.His293Gln)
n.2240C>A
c.684C>A (p.His228Gln)
n.968C>A
15g.28016140T>ACA391365353OCA2c.854A>T (p.His285Leu)
c.620A>T (p.His207Leu)
c.878A>T (p.His293Leu)
n.2239A>T
c.683A>T (p.His228Leu)
n.967A>T
15g.28016140T>CCA391365354OCA2c.854A>G (p.His285Arg)
c.620A>G (p.His207Arg)
c.878A>G (p.His293Arg)
n.2239A>G
c.683A>G (p.His228Arg)
n.967A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.28016140T>GCA391365355OCA2c.854A>C (p.His285Pro)
c.620A>C (p.His207Pro)
c.878A>C (p.His293Pro)
n.2239A>C
c.683A>C (p.His228Pro)
n.967A>C
15g.28016140T=CA2166415814OCA2c.854A= (p.His285=)
c.620A= (p.His207=)
c.878A= (p.His293=)
n.2239A=
c.683A= (p.His228=)
n.967A=
15g.28016141G>ACA391365358OCA2c.853C>T (p.His285Tyr)
c.619C>T (p.His207Tyr)
c.877C>T (p.His293Tyr)
n.2238C>T
c.682C>T (p.His228Tyr)
n.966C>T
 gnomAD v4
15g.28016141G>CCA391365356OCA2c.853C>G (p.His285Asp)
c.619C>G (p.His207Asp)
c.877C>G (p.His293Asp)
n.2238C>G
c.682C>G (p.His228Asp)
n.966C>G
15g.28016141G>TCA391365357OCA2c.853C>A (p.His285Asn)
c.619C>A (p.His207Asn)
c.877C>A (p.His293Asn)
n.2238C>A
c.682C>A (p.His228Asn)
n.966C>A
15g.28016142C>ACA391365359OCA2c.852G>T (p.Glu284Asp)
c.618G>T (p.Glu206Asp)
c.876G>T (p.Glu292Asp)
n.2237G>T
c.681G>T (p.Glu227Asp)
n.965G>T
15g.28016142C>GCA391365360OCA2c.852G>C (p.Glu284Asp)
c.618G>C (p.Glu206Asp)
c.876G>C (p.Glu292Asp)
n.2237G>C
c.681G>C (p.Glu227Asp)
n.965G>C
15g.28016142C>TCA488959596OCA2c.852G>A (p.Glu284=)
c.618G>A (p.Glu206=)
c.876G>A (p.Glu292=)
n.2237G>A
c.681G>A (p.Glu227=)
n.965G>A
 gnomAD v4
15g.28016143T>ACA391365361OCA2c.851A>T (p.Glu284Val)
c.617A>T (p.Glu206Val)
c.875A>T (p.Glu292Val)
n.2236A>T
c.680A>T (p.Glu227Val)
n.964A>T
15g.28016143T>CCA267908326OCA2c.851A>G (p.Glu284Gly)
c.617A>G (p.Glu206Gly)
c.875A>G (p.Glu292Gly)
n.2236A>G
c.680A>G (p.Glu227Gly)
n.964A>G
 dbSNP gnomAD v3 gnomAD v4
15g.28016143T>GCA391365362OCA2c.851A>C (p.Glu284Ala)
c.617A>C (p.Glu206Ala)
c.875A>C (p.Glu292Ala)
n.2236A>C
c.680A>C (p.Glu227Ala)
n.964A>C
15g.28016143T=CA2166415815OCA2c.851A= (p.Glu284=)
c.617A= (p.Glu206=)
c.875A= (p.Glu292=)
n.2236A=
c.680A= (p.Glu227=)
n.964A=
15g.28016144C>ACA391365363OCA2c.850G>T (p.Glu284Ter)
c.616G>T (p.Glu206Ter)
c.874G>T (p.Glu292Ter)
n.2235G>T
c.679G>T (p.Glu227Ter)
n.963G>T
 dbSNP
15g.28016144C=CA2166415820OCA2c.850G= (p.Glu284=)
c.616G= (p.Glu206=)
c.874G= (p.Glu292=)
n.2235G=
c.679G= (p.Glu227=)
n.963G=
15g.28016144C>GCA391365364OCA2c.850G>C (p.Glu284Gln)
c.616G>C (p.Glu206Gln)
c.874G>C (p.Glu292Gln)
n.2235G>C
c.679G>C (p.Glu227Gln)
n.963G>C
15g.28016144C>TCA391365365OCA2c.850G>A (p.Glu284Lys)
c.616G>A (p.Glu206Lys)
c.874G>A (p.Glu292Lys)
n.2235G>A
c.679G>A (p.Glu227Lys)
n.963G>A
 gnomAD v4
15g.28016145G>ACA7439324OCA2c.849C>T (p.Ser283=)
c.615C>T (p.Ser205=)
c.873C>T (p.Ser291=)
n.2234C>T
c.678C>T (p.Ser226=)
n.962C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28016145G>CCA391365366OCA2c.849C>G (p.Ser283Arg)
c.615C>G (p.Ser205Arg)
c.873C>G (p.Ser291Arg)
n.2234C>G
c.678C>G (p.Ser226Arg)
n.962C>G
15g.28016145G=CA2166415828OCA2c.849C= (p.Ser283=)
c.615C= (p.Ser205=)
c.873C= (p.Ser291=)
n.2234C=
c.678C= (p.Ser226=)
n.962C=
15g.28016145G>TCA7439325OCA2c.849C>A (p.Ser283Arg)
c.615C>A (p.Ser205Arg)
c.873C>A (p.Ser291Arg)
n.2234C>A
c.678C>A (p.Ser226Arg)
n.962C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28016146C>ACA391365369OCA2c.848G>T (p.Ser283Ile)
c.614G>T (p.Ser205Ile)
c.872G>T (p.Ser291Ile)
n.2233G>T
c.677G>T (p.Ser226Ile)
n.961G>T
 gnomAD v4
15g.28016146C=CA2166415834OCA2c.848G= (p.Ser283=)
c.614G= (p.Ser205=)
c.872G= (p.Ser291=)
n.2233G=
c.677G= (p.Ser226=)
n.961G=
15g.28016146C>GCA391365368OCA2c.848G>C (p.Ser283Thr)
c.614G>C (p.Ser205Thr)
c.872G>C (p.Ser291Thr)
n.2233G>C
c.677G>C (p.Ser226Thr)
n.961G>C
15g.28016146C>TCA391365367OCA2c.848G>A (p.Ser283Asn)
c.614G>A (p.Ser205Asn)
c.872G>A (p.Ser291Asn)
n.2233G>A
c.677G>A (p.Ser226Asn)
n.961G>A
 dbSNP gnomAD v2 gnomAD v4
15g.28016147T>ACA391365370OCA2c.847A>T (p.Ser283Cys)
c.613A>T (p.Ser205Cys)
c.871A>T (p.Ser291Cys)
n.2232A>T
c.676A>T (p.Ser226Cys)
n.960A>T
15g.28016147T>CCA391365371OCA2c.847A>G (p.Ser283Gly)
c.613A>G (p.Ser205Gly)
c.871A>G (p.Ser291Gly)
n.2232A>G
c.676A>G (p.Ser226Gly)
n.960A>G
15g.28016147T>GCA391365372OCA2c.847A>C (p.Ser283Arg)
c.613A>C (p.Ser205Arg)
c.871A>C (p.Ser291Arg)
n.2232A>C
c.676A>C (p.Ser226Arg)
n.960A>C
15g.28016148T>ACA391365373OCA2c.846A>T (p.Arg282Ser)
c.612A>T (p.Arg204Ser)
c.870A>T (p.Arg290Ser)
n.2231A>T
c.675A>T (p.Arg225Ser)
n.959A>T
15g.28016148T>CCA488959598OCA2c.846A>G (p.Arg282=)
c.612A>G (p.Arg204=)
c.870A>G (p.Arg290=)
n.2231A>G
c.675A>G (p.Arg225=)
n.959A>G
15g.28016148T>GCA391365374OCA2c.846A>C (p.Arg282Ser)
c.612A>C (p.Arg204Ser)
c.870A>C (p.Arg290Ser)
n.2231A>C
c.675A>C (p.Arg225Ser)
n.959A>C
15g.28016149C>ACA391365375OCA2c.845G>T (p.Arg282Ile)
c.611G>T (p.Arg204Ile)
c.869G>T (p.Arg290Ile)
n.2230G>T
c.674G>T (p.Arg225Ile)
n.958G>T
15g.28016149C>GCA391365376OCA2c.845G>C (p.Arg282Thr)
c.611G>C (p.Arg204Thr)
c.869G>C (p.Arg290Thr)
n.2230G>C
c.674G>C (p.Arg225Thr)
n.958G>C
15g.28016149C>TCA391365377OCA2c.845G>A (p.Arg282Lys)
c.611G>A (p.Arg204Lys)
c.869G>A (p.Arg290Lys)
n.2230G>A
c.674G>A (p.Arg225Lys)
n.958G>A
15g.28016150T>ACA391365378OCA2c.844A>T (p.Arg282Ter)
c.610A>T (p.Arg204Ter)
c.868A>T (p.Arg290Ter)
n.2229A>T
c.673A>T (p.Arg225Ter)
n.957A>T
15g.28016150T>CCA391365379OCA2c.844A>G (p.Arg282Gly)
c.610A>G (p.Arg204Gly)
c.868A>G (p.Arg290Gly)
n.2229A>G
c.673A>G (p.Arg225Gly)
n.957A>G
 gnomAD v4
15g.28016150T>GCA488959600OCA2c.844A>C (p.Arg282=)
c.610A>C (p.Arg204=)
c.868A>C (p.Arg290=)
n.2229A>C
c.673A>C (p.Arg225=)
n.957A>C
15g.28016151C>ACA391365380OCA2c.843G>T (p.Arg281Ser)
c.609G>T (p.Arg203Ser)
c.867G>T (p.Arg289Ser)
n.2228G>T
c.672G>T (p.Arg224Ser)
n.956G>T
15g.28016151C>GCA391365381OCA2c.843G>C (p.Arg281Ser)
c.609G>C (p.Arg203Ser)
c.867G>C (p.Arg289Ser)
n.2228G>C
c.672G>C (p.Arg224Ser)
n.956G>C
15g.28016151C>TCA488959601OCA2c.843G>A (p.Arg281=)
c.609G>A (p.Arg203=)
c.867G>A (p.Arg289=)
n.2228G>A
c.672G>A (p.Arg224=)
n.956G>A
15g.28016152C>ACA391365383OCA2c.842G>T (p.Arg281Met)
c.608G>T (p.Arg203Met)
c.866G>T (p.Arg289Met)
n.2227G>T
c.671G>T (p.Arg224Met)
n.955G>T
15g.28016152C>GCA391365384OCA2c.842G>C (p.Arg281Thr)
c.608G>C (p.Arg203Thr)
c.866G>C (p.Arg289Thr)
n.2227G>C
c.671G>C (p.Arg224Thr)
n.955G>C
15g.28016152C>TCA391365382OCA2c.842G>A (p.Arg281Lys)
c.608G>A (p.Arg203Lys)
c.866G>A (p.Arg289Lys)
n.2227G>A
c.671G>A (p.Arg224Lys)
n.955G>A
15g.28016153T>ACA391365385OCA2c.841A>T (p.Arg281Trp)
c.607A>T (p.Arg203Trp)
c.865A>T (p.Arg289Trp)
n.2226A>T
c.670A>T (p.Arg224Trp)
n.954A>T
15g.28016153T>CCA391365386OCA2c.841A>G (p.Arg281Gly)
c.607A>G (p.Arg203Gly)
c.865A>G (p.Arg289Gly)
n.2226A>G
c.670A>G (p.Arg224Gly)
n.954A>G
15g.28016153T>GCA488959602OCA2c.841A>C (p.Arg281=)
c.607A>C (p.Arg203=)
c.865A>C (p.Arg289=)
n.2226A>C
c.670A>C (p.Arg224=)
n.954A>C
15g.28016154C>ACA488959606OCA2c.840G>T (p.Pro280=)
c.606G>T (p.Pro202=)
c.864G>T (p.Pro288=)
n.2225G>T
c.669G>T (p.Pro223=)
n.953G>T
 gnomAD v4
15g.28016154C=CA2166415839OCA2c.840G= (p.Pro280=)
c.606G= (p.Pro202=)
c.864G= (p.Pro288=)
n.2225G=
c.669G= (p.Pro223=)
n.953G=
15g.28016154C>GCA488959605OCA2c.840G>C (p.Pro280=)
c.606G>C (p.Pro202=)
c.864G>C (p.Pro288=)
n.2225G>C
c.669G>C (p.Pro223=)
n.953G>C
 dbSNP gnomAD v2
15g.28016154C>TCA7439326OCA2c.840G>A (p.Pro280=)
c.606G>A (p.Pro202=)
c.864G>A (p.Pro288=)
n.2225G>A
c.669G>A (p.Pro223=)
n.953G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.28016155G>ACA7439327OCA2c.839C>T (p.Pro280Leu)
c.605C>T (p.Pro202Leu)
c.863C>T (p.Pro288Leu)
n.2224C>T
c.668C>T (p.Pro223Leu)
n.952C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.28016155G>CCA391365387OCA2c.839C>G (p.Pro280Arg)
c.605C>G (p.Pro202Arg)
c.863C>G (p.Pro288Arg)
n.2224C>G
c.668C>G (p.Pro223Arg)
n.952C>G
15g.28016155G=CA2166415844OCA2c.839C= (p.Pro280=)
c.605C= (p.Pro202=)
c.863C= (p.Pro288=)
n.2224C=
c.668C= (p.Pro223=)
n.952C=
15g.28016155G>TCA391365388OCA2c.839C>A (p.Pro280Gln)
c.605C>A (p.Pro202Gln)
c.863C>A (p.Pro288Gln)
n.2224C>A
c.668C>A (p.Pro223Gln)
n.952C>A
15g.28016155_28016158delinsGGATCA2166415846OCA2c.836_839delinsATCC (p.Asn279=)
c.602_605delinsATCC (p.Asn201=)
c.860_863delinsATCC (p.Asn287=)
n.2221_2224delinsATCC
c.665_668delinsATCC (p.Asn222=)
n.949_952delinsATCC
15g.28016156G>ACA7439328OCA2c.838C>T (p.Pro280Ser)
c.604C>T (p.Pro202Ser)
c.862C>T (p.Pro288Ser)
n.2223C>T
c.667C>T (p.Pro223Ser)
n.951C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28016156G>CCA391365390OCA2c.838C>G (p.Pro280Ala)
c.604C>G (p.Pro202Ala)
c.862C>G (p.Pro288Ala)
n.2223C>G
c.667C>G (p.Pro223Ala)
n.951C>G
15g.28016156G=CA2166415849OCA2c.838C= (p.Pro280=)
c.604C= (p.Pro202=)
c.862C= (p.Pro288=)
n.2223C=
c.667C= (p.Pro223=)
n.951C=
15g.28016156G>TCA391365389OCA2c.838C>A (p.Pro280Thr)
c.604C>A (p.Pro202Thr)
c.862C>A (p.Pro288Thr)
n.2223C>A
c.667C>A (p.Pro223Thr)
n.951C>A
15g.28016156_28016158delCA711717941OCA2c.836_838del (p.Asn279_Pro280delinsThr)
c.602_604del (p.Asn201_Pro202delinsThr)
c.860_862del (p.Asn287_Pro288delinsThr)
n.2221_2223del
c.665_667del (p.Asn222_Pro223delinsThr)
n.949_951del
 dbSNP
15g.28016157A>CCA391365391OCA2c.837T>G (p.Asn279Lys)
c.603T>G (p.Asn201Lys)
c.861T>G (p.Asn287Lys)
n.2222T>G
c.666T>G (p.Asn222Lys)
n.950T>G
15g.28016157A>GCA488959608OCA2c.837T>C (p.Asn279=)
c.603T>C (p.Asn201=)
c.861T>C (p.Asn287=)
n.2222T>C
c.666T>C (p.Asn222=)
n.950T>C
 COSMIC
15g.28016157A>TCA391365392OCA2c.837T>A (p.Asn279Lys)
c.603T>A (p.Asn201Lys)
c.861T>A (p.Asn287Lys)
n.2222T>A
c.666T>A (p.Asn222Lys)
n.950T>A
15g.28016158T>ACA391365393OCA2c.836A>T (p.Asn279Ile)
c.602A>T (p.Asn201Ile)
c.860A>T (p.Asn287Ile)
n.2221A>T
c.665A>T (p.Asn222Ile)
n.949A>T
15g.28016158T>CCA391365394OCA2c.836A>G (p.Asn279Ser)
c.602A>G (p.Asn201Ser)
c.860A>G (p.Asn287Ser)
n.2221A>G
c.665A>G (p.Asn222Ser)
n.949A>G
15g.28016158T>GCA391365395OCA2c.836A>C (p.Asn279Thr)
c.602A>C (p.Asn201Thr)
c.860A>C (p.Asn287Thr)
n.2221A>C
c.665A>C (p.Asn222Thr)
n.949A>C
15g.28016158_28016164dupCA2695219850OCA2c.830_836dup (p.Asn279LysfsTer17)
c.596_602dup (p.Asn201LysfsTer17)
c.854_860dup (p.Asn287LysfsTer17)
n.2215_2221dup
c.659_665dup (p.Asn222LysfsTer17)
n.943_949dup
15g.28016159T>ACA391365397OCA2c.835A>T (p.Asn279Tyr)
c.601A>T (p.Asn201Tyr)
c.859A>T (p.Asn287Tyr)
n.2220A>T
c.664A>T (p.Asn222Tyr)
n.948A>T
15g.28016159T>CCA391365398OCA2c.835A>G (p.Asn279Asp)
c.601A>G (p.Asn201Asp)
c.859A>G (p.Asn287Asp)
n.2220A>G
c.664A>G (p.Asn222Asp)
n.948A>G
15g.28016159T>GCA391365396OCA2c.835A>C (p.Asn279His)
c.601A>C (p.Asn201His)
c.859A>C (p.Asn287His)
n.2220A>C
c.664A>C (p.Asn222His)
n.948A>C
15g.28016160T>ACA391365400OCA2c.834A>T (p.Leu278Phe)
c.600A>T (p.Leu200Phe)
c.858A>T (p.Leu286Phe)
n.2219A>T
c.663A>T (p.Leu221Phe)
n.947A>T
15g.28016160T>CCA488959610OCA2c.834A>G (p.Leu278=)
c.600A>G (p.Leu200=)
c.858A>G (p.Leu286=)
n.2219A>G
c.663A>G (p.Leu221=)
n.947A>G
15g.28016160T>GCA391365399OCA2c.834A>C (p.Leu278Phe)
c.600A>C (p.Leu200Phe)
c.858A>C (p.Leu286Phe)
n.2219A>C
c.663A>C (p.Leu221Phe)
n.947A>C
15g.28016161A>CCA391365403OCA2c.833T>G (p.Leu278Ter)
c.599T>G (p.Leu200Ter)
c.857T>G (p.Leu286Ter)
n.2218T>G
c.662T>G (p.Leu221Ter)
n.946T>G
15g.28016161A>GCA391365401OCA2c.833T>C (p.Leu278Ser)
c.599T>C (p.Leu200Ser)
c.857T>C (p.Leu286Ser)
n.2218T>C
c.662T>C (p.Leu221Ser)
n.946T>C
15g.28016161A>TCA391365402OCA2c.833T>A (p.Leu278Ter)
c.599T>A (p.Leu200Ter)
c.857T>A (p.Leu286Ter)
n.2218T>A
c.662T>A (p.Leu221Ter)
n.946T>A
15g.28016162A>CCA391365404OCA2c.832T>G (p.Leu278Val)
c.598T>G (p.Leu200Val)
c.856T>G (p.Leu286Val)
n.2217T>G
c.661T>G (p.Leu221Val)
n.945T>G
15g.28016162A>GCA488959613OCA2c.832T>C (p.Leu278=)
c.598T>C (p.Leu200=)
c.856T>C (p.Leu286=)
n.2217T>C
c.661T>C (p.Leu221=)
n.945T>C
15g.28016162A>TCA391365405OCA2c.832T>A (p.Leu278Ile)
c.598T>A (p.Leu200Ile)
c.856T>A (p.Leu286Ile)
n.2217T>A
c.661T>A (p.Leu221Ile)
n.945T>A
15g.28016163A=CA2166415852OCA2c.831T= (p.Tyr277=)
c.597T= (p.Tyr199=)
c.855T= (p.Tyr285=)
n.2216T=
c.660T= (p.Tyr220=)
n.944T=
15g.28016163A>CCA391365406OCA2c.831T>G (p.Tyr277Ter)
c.597T>G (p.Tyr199Ter)
c.855T>G (p.Tyr285Ter)
n.2216T>G
c.660T>G (p.Tyr220Ter)
n.944T>G
15g.28016163A>GCA488959614OCA2c.831T>C (p.Tyr277=)
c.597T>C (p.Tyr199=)
c.855T>C (p.Tyr285=)
n.2216T>C
c.660T>C (p.Tyr220=)
n.944T>C
15g.28016163A>TCA7439329OCA2c.831T>A (p.Tyr277Ter)
c.597T>A (p.Tyr199Ter)
c.855T>A (p.Tyr285Ter)
n.2216T>A
c.660T>A (p.Tyr220Ter)
n.944T>A
 ClinVar dbSNP ExAC gnomAD v4
15g.28016164T>ACA391365407OCA2c.830A>T (p.Tyr277Phe)
c.596A>T (p.Tyr199Phe)
c.854A>T (p.Tyr285Phe)
n.2215A>T
c.659A>T (p.Tyr220Phe)
n.943A>T
 gnomAD v4
15g.28016164T>CCA391365408OCA2c.830A>G (p.Tyr277Cys)
c.596A>G (p.Tyr199Cys)
c.854A>G (p.Tyr285Cys)
n.2215A>G
c.659A>G (p.Tyr220Cys)
n.943A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.28016164T>GCA391365409OCA2c.830A>C (p.Tyr277Ser)
c.596A>C (p.Tyr199Ser)
c.854A>C (p.Tyr285Ser)
n.2215A>C
c.659A>C (p.Tyr220Ser)
n.943A>C
15g.28016164T=CA2166415854OCA2c.830A= (p.Tyr277=)
c.596A= (p.Tyr199=)
c.854A= (p.Tyr285=)
n.2215A=
c.659A= (p.Tyr220=)
n.943A=
15g.28016165A>CCA391365410OCA2c.829T>G (p.Tyr277Asp)
c.595T>G (p.Tyr199Asp)
c.853T>G (p.Tyr285Asp)
n.2214T>G
c.658T>G (p.Tyr220Asp)
n.942T>G
15g.28016165A>GCA391365411OCA2c.829T>C (p.Tyr277His)
c.595T>C (p.Tyr199His)
c.853T>C (p.Tyr285His)
n.2214T>C
c.658T>C (p.Tyr220His)
n.942T>C
15g.28016165A>TCA391365412OCA2c.829T>A (p.Tyr277Asn)
c.595T>A (p.Tyr199Asn)
c.853T>A (p.Tyr285Asn)
n.2214T>A
c.658T>A (p.Tyr220Asn)
n.942T>A
15g.28016166C>ACA488959615OCA2c.828G>T (p.Val276=)
c.594G>T (p.Val198=)
c.852G>T (p.Val284=)
n.2213G>T
c.657G>T (p.Val219=)
n.941G>T
15g.28016166C=CA2166415856OCA2c.828G= (p.Val276=)
c.594G= (p.Val198=)
c.852G= (p.Val284=)
n.2213G=
c.657G= (p.Val219=)
n.941G=
15g.28016166C>GCA488959616OCA2c.828G>C (p.Val276=)
c.594G>C (p.Val198=)
c.852G>C (p.Val284=)
n.2213G>C
c.657G>C (p.Val219=)
n.941G>C
15g.28016166C>TCA7439330OCA2c.828G>A (p.Val276=)
c.594G>A (p.Val198=)
c.852G>A (p.Val284=)
n.2213G>A
c.657G>A (p.Val219=)
n.941G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28016167A>CCA391365413OCA2c.827T>G (p.Val276Gly)
c.593T>G (p.Val198Gly)
c.851T>G (p.Val284Gly)
n.2212T>G
c.656T>G (p.Val219Gly)
n.940T>G
15g.28016167A>GCA391365415OCA2c.827T>C (p.Val276Ala)
c.593T>C (p.Val198Ala)
c.851T>C (p.Val284Ala)
n.2212T>C
c.656T>C (p.Val219Ala)
n.940T>C
 gnomAD v4
15g.28016167A>TCA391365414OCA2c.827T>A (p.Val276Glu)
c.593T>A (p.Val198Glu)
c.851T>A (p.Val284Glu)
n.2212T>A
c.656T>A (p.Val219Glu)
n.940T>A
15g.28016168C>ACA391365416OCA2c.826G>T (p.Val276Leu)
c.592G>T (p.Val198Leu)
c.850G>T (p.Val284Leu)
n.2211G>T
c.655G>T (p.Val219Leu)
n.939G>T
15g.28016168C>GCA391365417OCA2c.826G>C (p.Val276Leu)
c.592G>C (p.Val198Leu)
c.850G>C (p.Val284Leu)
n.2211G>C
c.655G>C (p.Val219Leu)
n.939G>C
15g.28016168C>TCA391365418OCA2c.826G>A (p.Val276Met)
c.592G>A (p.Val198Met)
c.850G>A (p.Val284Met)
n.2211G>A
c.655G>A (p.Val219Met)
n.939G>A
15g.28016169delCA2575653280OCA2c.826del (p.Val276CysfsTer3)
c.592del (p.Val198CysfsTer3)
c.850del (p.Val284CysfsTer3)
n.2211del
c.655del (p.Val219CysfsTer3)
n.939del
15g.28016169C>ACA488959619OCA2c.825G>T (p.Thr275=)
c.591G>T (p.Thr197=)
c.849G>T (p.Thr283=)
n.2210G>T
c.654G>T (p.Thr218=)
n.938G>T
15g.28016169C=CA2166415858OCA2c.825G= (p.Thr275=)
c.591G= (p.Thr197=)
c.849G= (p.Thr283=)
n.2210G=
c.654G= (p.Thr218=)
n.938G=
15g.28016169C>GCA488959620OCA2c.825G>C (p.Thr275=)
c.591G>C (p.Thr197=)
c.849G>C (p.Thr283=)
n.2210G>C
c.654G>C (p.Thr218=)
n.938G>C
15g.28016169C>TCA488959621OCA2c.825G>A (p.Thr275=)
c.591G>A (p.Thr197=)
c.849G>A (p.Thr283=)
n.2210G>A
c.654G>A (p.Thr218=)
n.938G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.28016170G>ACA7439331OCA2c.824C>T (p.Thr275Met)
c.590C>T (p.Thr197Met)
c.848C>T (p.Thr283Met)
n.2209C>T
c.653C>T (p.Thr218Met)
n.937C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28016170G>CCA267908408OCA2c.824C>G (p.Thr275Arg)
c.590C>G (p.Thr197Arg)
c.848C>G (p.Thr283Arg)
n.2209C>G
c.653C>G (p.Thr218Arg)
n.937C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.28016170G=CA2166415861OCA2c.824C= (p.Thr275=)
c.590C= (p.Thr197=)
c.848C= (p.Thr283=)
n.2209C=
c.653C= (p.Thr218=)
n.937C=
15g.28016170G>TCA391365419OCA2c.824C>A (p.Thr275Lys)
c.590C>A (p.Thr197Lys)
c.848C>A (p.Thr283Lys)
n.2209C>A
c.653C>A (p.Thr218Lys)
n.937C>A
15g.28016171T>ACA391365420OCA2c.823A>T (p.Thr275Ser)
c.589A>T (p.Thr197Ser)
c.847A>T (p.Thr283Ser)
n.2208A>T
c.652A>T (p.Thr218Ser)
n.936A>T
15g.28016171T>CCA391365421OCA2c.823A>G (p.Thr275Ala)
c.589A>G (p.Thr197Ala)
c.847A>G (p.Thr283Ala)
n.2208A>G
c.652A>G (p.Thr218Ala)
n.936A>G
 gnomAD v4
15g.28016171T>GCA391365422OCA2c.823A>C (p.Thr275Pro)
c.589A>C (p.Thr197Pro)
c.847A>C (p.Thr283Pro)
n.2208A>C
c.652A>C (p.Thr218Pro)
n.936A>C
15g.28016171T=CA2166415862OCA2c.823A= (p.Thr275=)
c.589A= (p.Thr197=)
c.847A= (p.Thr283=)
n.2208A=
c.652A= (p.Thr218=)
n.936A=
15g.28016171_28016172insGACA7439332OCA2c.822_823insTC (p.Thr275SerfsTer5)
c.588_589insTC (p.Thr197SerfsTer5)
c.846_847insTC (p.Thr283SerfsTer5)
n.2207_2208insTC
c.651_652insTC (p.Thr218SerfsTer5)
n.935_936insTC
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28016172C>ACA391365424OCA2c.822G>T (p.Trp274Cys)
c.588G>T (p.Trp196Cys)
c.846G>T (p.Trp282Cys)
n.2207G>T
c.651G>T (p.Trp217Cys)
n.935G>T
 COSMIC COSMIC
15g.28016172C=CA2166415871OCA2c.822G= (p.Trp274=)
c.588G= (p.Trp196=)
c.846G= (p.Trp282=)
n.2207G=
c.651G= (p.Trp217=)
n.935G=
15g.28016172C>GCA267908436OCA2c.822G>C (p.Trp274Cys)
c.588G>C (p.Trp196Cys)
c.846G>C (p.Trp282Cys)
n.2207G>C
c.651G>C (p.Trp217Cys)
n.935G>C
 dbSNP
15g.28016172C>TCA391365423OCA2c.822G>A (p.Trp274Ter)
c.588G>A (p.Trp196Ter)
c.846G>A (p.Trp282Ter)
n.2207G>A
c.651G>A (p.Trp217Ter)
n.935G>A
 gnomAD v4
15g.28016172_28016175delinsCCAGCA2166415870OCA2c.819_822delinsCTGG (p.Asn273=)
c.585_588delinsCTGG (p.Asn195=)
c.843_846delinsCTGG (p.Asn281=)
n.2204_2207delinsCTGG
c.648_651delinsCTGG (p.Asn216=)
n.932_935delinsCTGG
15g.28016172_28016175delinsGACCCA275423OCA2c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal)
c.585_588delinsGGTC (p.Asn195_Trp196delinsLysVal)
c.843_846delinsGGTC (p.Asn281_Trp282delinsLysVal)
n.2204_2207delinsGGTC
c.648_651delinsGGTC (p.Asn216_Trp217delinsLysVal)
n.932_935delinsGGTC
 ClinVar dbSNP
15g.28016173C>ACA267908437OCA2c.821G>T (p.Trp274Leu)
c.587G>T (p.Trp196Leu)
c.845G>T (p.Trp282Leu)
n.2206G>T
c.650G>T (p.Trp217Leu)
n.934G>T
 dbSNP
15g.28016173C=CA2166415876OCA2c.821G= (p.Trp274=)
c.587G= (p.Trp196=)
c.845G= (p.Trp282=)
n.2206G=
c.650G= (p.Trp217=)
n.934G=
15g.28016173C>GCA391365425OCA2c.821G>C (p.Trp274Ser)
c.587G>C (p.Trp196Ser)
c.845G>C (p.Trp282Ser)
n.2206G>C
c.650G>C (p.Trp217Ser)
n.934G>C
15g.28016173C>TCA391365426OCA2c.821G>A (p.Trp274Ter)
c.587G>A (p.Trp196Ter)
c.845G>A (p.Trp282Ter)
n.2206G>A
c.650G>A (p.Trp217Ter)
n.934G>A
15g.28016173_28016174delinsTGCA645372570OCA2c.820_821delinsCA (p.Trp274Gln)
c.586_587delinsCA (p.Trp196Gln)
c.844_845delinsCA (p.Trp282Gln)
n.2205_2206delinsCA
c.649_650delinsCA (p.Trp217Gln)
n.933_934delinsCA
 ClinVar
15g.28016173_28016175delinsCAGCA2166415878OCA2c.819_821delinsCTG (p.Asn273=)
c.585_587delinsCTG (p.Asn195=)
c.843_845delinsCTG (p.Asn281=)
n.2204_2206delinsCTG
c.648_650delinsCTG (p.Asn216=)
n.932_934delinsCTG
15g.28016174A=CA2166415884OCA2c.820T= (p.Trp274=)
c.586T= (p.Trp196=)
c.844T= (p.Trp282=)
n.2205T=
c.649T= (p.Trp217=)
n.933T=
15g.28016174A>CCA267908438OCA2c.820T>G (p.Trp274Gly)
c.586T>G (p.Trp196Gly)
c.844T>G (p.Trp282Gly)
n.2205T>G
c.649T>G (p.Trp217Gly)
n.933T>G
 dbSNP
15g.28016174A>GCA391365428OCA2c.820T>C (p.Trp274Arg)
c.586T>C (p.Trp196Arg)
c.844T>C (p.Trp282Arg)
n.2205T>C
c.649T>C (p.Trp217Arg)
n.933T>C
15g.28016174A>TCA391365427OCA2c.820T>A (p.Trp274Arg)
c.586T>A (p.Trp196Arg)
c.844T>A (p.Trp282Arg)
n.2205T>A
c.649T>A (p.Trp217Arg)
n.933T>A
15g.28016174_28016175delCA7439333OCA2c.819_820del (p.Asn273LysfsTer20)
c.585_586del (p.Asn195LysfsTer20)
c.843_844del (p.Asn281LysfsTer20)
n.2204_2205del
c.648_649del (p.Asn216LysfsTer20)
n.932_933del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28016175G>ACA488959625OCA2c.819C>T (p.Asn273=)
c.585C>T (p.Asn195=)
c.843C>T (p.Asn281=)
n.2204C>T
c.648C>T (p.Asn216=)
n.932C>T
 dbSNP gnomAD v2 gnomAD v4
15g.28016175G>CCA267908440OCA2c.819C>G (p.Asn273Lys)
c.585C>G (p.Asn195Lys)
c.843C>G (p.Asn281Lys)
n.2204C>G
c.648C>G (p.Asn216Lys)
n.932C>G
 dbSNP
15g.28016175G=CA2166415890OCA2c.819C= (p.Asn273=)
c.585C= (p.Asn195=)
c.843C= (p.Asn281=)
n.2204C=
c.648C= (p.Asn216=)
n.932C=
15g.28016175G>TCA391365429OCA2c.819C>A (p.Asn273Lys)
c.585C>A (p.Asn195Lys)
c.843C>A (p.Asn281Lys)
n.2204C>A
c.648C>A (p.Asn216Lys)
n.932C>A
15g.28016175_28016176delCA391365430OCA2c.818_819del (p.Asn273MetfsTer20)
c.584_585del (p.Asn195MetfsTer20)
c.842_843del (p.Asn281MetfsTer20)
n.2203_2204del
c.647_648del (p.Asn216MetfsTer20)
n.931_932del
15g.28016176T>ACA391365431OCA2c.818A>T (p.Asn273Ile)
c.584A>T (p.Asn195Ile)
c.842A>T (p.Asn281Ile)
n.2203A>T
c.647A>T (p.Asn216Ile)
n.931A>T
15g.28016176T>CCA391365432OCA2c.818A>G (p.Asn273Ser)
c.584A>G (p.Asn195Ser)
c.842A>G (p.Asn281Ser)
n.2203A>G
c.647A>G (p.Asn216Ser)
n.931A>G
15g.28016176T>GCA391365433OCA2c.818A>C (p.Asn273Thr)
c.584A>C (p.Asn195Thr)
c.842A>C (p.Asn281Thr)
n.2203A>C
c.647A>C (p.Asn216Thr)
n.931A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.28016176T=CA2166415891OCA2c.818A= (p.Asn273=)
c.584A= (p.Asn195=)
c.842A= (p.Asn281=)
n.2203A=
c.647A= (p.Asn216=)
n.931A=
15g.28016177T>ACA391365434OCA2c.817A>T (p.Asn273Tyr)
c.583A>T (p.Asn195Tyr)
c.841A>T (p.Asn281Tyr)
n.2202A>T
c.646A>T (p.Asn216Tyr)
n.930A>T
15g.28016177T>CCA391365436OCA2c.817A>G (p.Asn273Asp)
c.583A>G (p.Asn195Asp)
c.841A>G (p.Asn281Asp)
n.2202A>G
c.646A>G (p.Asn216Asp)
n.930A>G
15g.28016177T>GCA391365435OCA2c.817A>C (p.Asn273His)
c.583A>C (p.Asn195His)
c.841A>C (p.Asn281His)
n.2202A>C
c.646A>C (p.Asn216His)
n.930A>C
15g.28016177_28016186delCA2580612793OCA2c.808_817del (p.Val270ThrfsTer6)
c.574_583del (p.Val192ThrfsTer6)
c.832_841del (p.Val278ThrfsTer6)
n.2193_2202del
c.637_646del (p.Val213ThrfsTer6)
n.921_930del
 ClinVar
15g.28016180_28016190delCA2580612794OCA2c.808-1_817del
c.574-1_583del
c.832-1_841del
n.2193-1_2202del
c.637-1_646del
n.921-1_930del
 ClinVar
15g.28016178G>ACA488959627OCA2c.816C>T (p.His272=)
c.582C>T (p.His194=)
c.840C>T (p.His280=)
n.2201C>T
c.645C>T (p.His215=)
n.929C>T
 dbSNP gnomAD v2 gnomAD v4
15g.28016178G>CCA391365437OCA2c.816C>G (p.His272Gln)
c.582C>G (p.His194Gln)
c.840C>G (p.His280Gln)
n.2201C>G
c.645C>G (p.His215Gln)
n.929C>G
15g.28016178G=CA2166415894OCA2c.816C= (p.His272=)
c.582C= (p.His194=)
c.840C= (p.His280=)
n.2201C=
c.645C= (p.His215=)
n.929C=
15g.28016178G>TCA391365438OCA2c.816C>A (p.His272Gln)
c.582C>A (p.His194Gln)
c.840C>A (p.His280Gln)
n.2201C>A
c.645C>A (p.His215Gln)
n.929C>A
15g.28016179T>ACA391365439OCA2c.815A>T (p.His272Leu)
c.581A>T (p.His194Leu)
c.839A>T (p.His280Leu)
n.2200A>T
c.644A>T (p.His215Leu)
n.928A>T
15g.28016179T>CCA391365440OCA2c.815A>G (p.His272Arg)
c.581A>G (p.His194Arg)
c.839A>G (p.His280Arg)
n.2200A>G
c.644A>G (p.His215Arg)
n.928A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.28016179T>GCA391365441OCA2c.815A>C (p.His272Pro)
c.581A>C (p.His194Pro)
c.839A>C (p.His280Pro)
n.2200A>C
c.644A>C (p.His215Pro)
n.928A>C
15g.28016179T=CA2166415898OCA2c.815A= (p.His272=)
c.581A= (p.His194=)
c.839A= (p.His280=)
n.2200A=
c.644A= (p.His215=)
n.928A=
15g.28016180G>ACA391365442OCA2c.814C>T (p.His272Tyr)
c.580C>T (p.His194Tyr)
c.838C>T (p.His280Tyr)
n.2199C>T
c.643C>T (p.His215Tyr)
n.927C>T
15g.28016180G>CCA391365443OCA2c.814C>G (p.His272Asp)
c.580C>G (p.His194Asp)
c.838C>G (p.His280Asp)
n.2199C>G
c.643C>G (p.His215Asp)
n.927C>G
15g.28016180G>TCA391365444OCA2c.814C>A (p.His272Asn)
c.580C>A (p.His194Asn)
c.838C>A (p.His280Asn)
n.2199C>A
c.643C>A (p.His215Asn)
n.927C>A
15g.28016181A>CCA488959629OCA2c.813T>G (p.Thr271=)
c.579T>G (p.Thr193=)
c.837T>G (p.Thr279=)
n.2198T>G
c.642T>G (p.Thr214=)
n.926T>G
15g.28016181A>GCA488959632OCA2c.813T>C (p.Thr271=)
c.579T>C (p.Thr193=)
c.837T>C (p.Thr279=)
n.2198T>C
c.642T>C (p.Thr214=)
n.926T>C
15g.28016181A>TCA488959630OCA2c.813T>A (p.Thr271=)
c.579T>A (p.Thr193=)
c.837T>A (p.Thr279=)
n.2198T>A
c.642T>A (p.Thr214=)
n.926T>A
15g.28016182G>ACA391365445OCA2c.812C>T (p.Thr271Ile)
c.578C>T (p.Thr193Ile)
c.836C>T (p.Thr279Ile)
n.2197C>T
c.641C>T (p.Thr214Ile)
n.925C>T
15g.28016182G>CCA391365446OCA2c.812C>G (p.Thr271Ser)
c.578C>G (p.Thr193Ser)
c.836C>G (p.Thr279Ser)
n.2197C>G
c.641C>G (p.Thr214Ser)
n.925C>G
15g.28016182G>TCA391365447OCA2c.812C>A (p.Thr271Asn)
c.578C>A (p.Thr193Asn)
c.836C>A (p.Thr279Asn)
n.2197C>A
c.641C>A (p.Thr214Asn)
n.925C>A
15g.28016183T>ACA391365449OCA2c.811A>T (p.Thr271Ser)
c.577A>T (p.Thr193Ser)
c.835A>T (p.Thr279Ser)
n.2196A>T
c.640A>T (p.Thr214Ser)
n.924A>T
 gnomAD v4
15g.28016183T>CCA391365450OCA2c.811A>G (p.Thr271Ala)
c.577A>G (p.Thr193Ala)
c.835A>G (p.Thr279Ala)
n.2196A>G
c.640A>G (p.Thr214Ala)
n.924A>G
 ClinVar dbSNP gnomAD v4
15g.28016183T>GCA391365448OCA2c.811A>C (p.Thr271Pro)
c.577A>C (p.Thr193Pro)
c.835A>C (p.Thr279Pro)
n.2196A>C
c.640A>C (p.Thr214Pro)
n.924A>C
15g.28016184G>ACA488959637OCA2c.810C>T (p.Val270=)
c.576C>T (p.Val192=)
c.834C>T (p.Val278=)
n.2195C>T
c.639C>T (p.Val213=)
n.923C>T
 gnomAD v4 COSMIC COSMIC
15g.28016184G>CCA488959638OCA2c.810C>G (p.Val270=)
c.576C>G (p.Val192=)
c.834C>G (p.Val278=)
n.2195C>G
c.639C>G (p.Val213=)
n.923C>G
 dbSNP gnomAD v4
15g.28016184G=CA2166415900OCA2c.810C= (p.Val270=)
c.576C= (p.Val192=)
c.834C= (p.Val278=)
n.2195C=
c.639C= (p.Val213=)
n.923C=
15g.28016184G>TCA488959639OCA2c.810C>A (p.Val270=)
c.576C>A (p.Val192=)
c.834C>A (p.Val278=)
n.2195C>A
c.639C>A (p.Val213=)
n.923C>A
15g.28016185A>CCA391365452OCA2c.809T>G (p.Val270Gly)
c.575T>G (p.Val192Gly)
c.833T>G (p.Val278Gly)
n.2194T>G
c.638T>G (p.Val213Gly)
n.922T>G
15g.28016185A>GCA391365451OCA2c.809T>C (p.Val270Ala)
c.575T>C (p.Val192Ala)
c.833T>C (p.Val278Ala)
n.2194T>C
c.638T>C (p.Val213Ala)
n.922T>C
15g.28016185A>TCA391365453OCA2c.809T>A (p.Val270Asp)
c.575T>A (p.Val192Asp)
c.833T>A (p.Val278Asp)
n.2194T>A
c.638T>A (p.Val213Asp)
n.922T>A
 COSMIC COSMIC
15g.28016186C>ACA391365454OCA2c.808G>T (p.Val270Phe)
c.574G>T (p.Val192Phe)
c.832G>T (p.Val278Phe)
n.2193G>T
c.637G>T (p.Val213Phe)
n.921G>T
15g.28016186C>GCA391365455OCA2c.808G>C (p.Val270Leu)
c.574G>C (p.Val192Leu)
c.832G>C (p.Val278Leu)
n.2193G>C
c.637G>C (p.Val213Leu)
n.921G>C
15g.28016186C>TCA391365456OCA2c.808G>A (p.Val270Ile)
c.574G>A (p.Val192Ile)
c.832G>A (p.Val278Ile)
n.2193G>A
c.637G>A (p.Val213Ile)
n.921G>A
15g.28016187C>ACA391365457OCA2c.808-1G>T (n.808-1G>T)
c.574-1G>T (n.574-1G>T)
c.832-1G>T (n.832-1G>T)
n.2193-1G>T
c.637-1G>T (n.637-1G>T)
n.921-1G>T
15g.28016187C=CA2166415903OCA2c.808-1G= (n.808-1G=)
c.574-1G= (n.574-1G=)
c.832-1G= (n.832-1G=)
n.2193-1G=
c.637-1G= (n.637-1G=)
n.921-1G=
15g.28016187C>GCA391365458OCA2c.808-1G>C (n.808-1G>C)
c.574-1G>C (n.574-1G>C)
c.832-1G>C (n.832-1G>C)
n.2193-1G>C
c.637-1G>C (n.637-1G>C)
n.921-1G>C
 ClinVar dbSNP gnomAD v4
15g.28016187C>TCA391365459OCA2c.808-1G>A (n.808-1G>A)
c.574-1G>A (n.574-1G>A)
c.832-1G>A (n.832-1G>A)
n.2193-1G>A
c.637-1G>A (n.637-1G>A)
n.921-1G>A
15g.28016188T>ACA391365460OCA2c.808-2A>T (n.808-2A>T)
c.574-2A>T (n.574-2A>T)
c.832-2A>T (n.832-2A>T)
n.2193-2A>T
c.637-2A>T (n.637-2A>T)
n.921-2A>T
15g.28016188T>CCA7439334OCA2c.808-2A>G (n.808-2A>G)
c.574-2A>G (n.574-2A>G)
c.832-2A>G (n.832-2A>G)
n.2193-2A>G
c.637-2A>G (n.637-2A>G)
n.921-2A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28016188T>GCA391365461OCA2c.808-2A>C (n.808-2A>C)
c.574-2A>C (n.574-2A>C)
c.832-2A>C (n.832-2A>C)
n.2193-2A>C
c.637-2A>C (n.637-2A>C)
n.921-2A>C
15g.28016188T=CA2166415905OCA2c.808-2A= (n.808-2A=)
c.574-2A= (n.574-2A=)
c.832-2A= (n.832-2A=)
n.2193-2A=
c.637-2A= (n.637-2A=)
n.921-2A=
15g.28016189G>CCA616713483OCA2c.808-3C>G (n.808-3C>G)
c.574-3C>G (n.574-3C>G)
c.832-3C>G (n.832-3C>G)
n.2193-3C>G
c.637-3C>G (n.637-3C>G)
n.921-3C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.28016189G=CA2166415909OCA2c.808-3C= (n.808-3C=)
c.574-3C= (n.574-3C=)
c.832-3C= (n.832-3C=)
n.2193-3C=
c.637-3C= (n.637-3C=)
n.921-3C=
15g.28016190T>CCA267908443OCA2c.808-4A>G (n.808-4A>G)
c.574-4A>G (n.574-4A>G)
c.832-4A>G (n.832-4A>G)
n.2193-4A>G
c.637-4A>G (n.637-4A>G)
n.921-4A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.28016190T=CA2166415911OCA2c.808-4A= (n.808-4A=)
c.574-4A= (n.574-4A=)
c.832-4A= (n.832-4A=)
n.2193-4A=
c.637-4A= (n.637-4A=)
n.921-4A=
15g.28016192C>ACA616713485OCA2c.808-6G>T (n.808-6G>T)
c.574-6G>T (n.574-6G>T)
c.832-6G>T (n.832-6G>T)
n.2193-6G>T
c.637-6G>T (n.637-6G>T)
n.921-6G>T
 dbSNP gnomAD v2
15g.28016192C=CA2166415912OCA2c.808-6G= (n.808-6G=)
c.574-6G= (n.574-6G=)
c.832-6G= (n.832-6G=)
n.2193-6G=
c.637-6G= (n.637-6G=)
n.921-6G=
15g.28016192C>TCA2166415913OCA2c.808-6G>A (n.808-6G>A)
c.574-6G>A (n.574-6G>A)
c.832-6G>A (n.832-6G>A)
n.2193-6G>A
c.637-6G>A (n.637-6G>A)
n.921-6G>A
 dbSNP
15g.28016197_28016202dupCA2627390202OCA2c.808-12_808-7dup (n.808-12_808-7dup)
c.574-12_574-7dup (n.574-12_574-7dup)
c.832-12_832-7dup (n.832-12_832-7dup)
n.2193-12_2193-7dup
c.637-12_637-7dup (n.637-12_637-7dup)
n.921-12_921-7dup
 gnomAD v4
15g.28016195G>ACA7439335OCA2c.808-9C>T (n.808-9C>T)
c.574-9C>T (n.574-9C>T)
c.832-9C>T (n.832-9C>T)
n.2193-9C>T
c.637-9C>T (n.637-9C>T)
n.921-9C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28016195G=CA2166415915OCA2c.808-9C= (n.808-9C=)
c.574-9C= (n.574-9C=)
c.832-9C= (n.832-9C=)
n.2193-9C=
c.637-9C= (n.637-9C=)
n.921-9C=
15g.28016195_28016196delinsAACA2580089173OCA2c.808-10_808-9delinsTT (n.808-10_808-9delinsTT)
c.574-10_574-9delinsTT (n.574-10_574-9delinsTT)
c.832-10_832-9delinsTT (n.832-10_832-9delinsTT)
n.2193-10_2193-9delinsTT
c.637-10_637-9delinsTT (n.637-10_637-9delinsTT)
n.921-10_921-9delinsTT
 ClinVar
15g.28016196C>ACA7439336OCA2c.808-10G>T (n.808-10G>T)
c.574-10G>T (n.574-10G>T)
c.832-10G>T (n.832-10G>T)
n.2193-10G>T
c.637-10G>T (n.637-10G>T)
n.921-10G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.28016196C=CA2166415917OCA2c.808-10G= (n.808-10G=)
c.574-10G= (n.574-10G=)
c.832-10G= (n.832-10G=)
n.2193-10G=
c.637-10G= (n.637-10G=)
n.921-10G=
15g.28016197C>ACA2575653281OCA2c.808-11G>T (n.808-11G>T)
c.574-11G>T (n.574-11G>T)
c.832-11G>T (n.832-11G>T)
n.2193-11G>T
c.637-11G>T (n.637-11G>T)
n.921-11G>T
15g.28016197C=CA2166415919OCA2c.808-11G= (n.808-11G=)
c.574-11G= (n.574-11G=)
c.832-11G= (n.832-11G=)
n.2193-11G=
c.637-11G= (n.637-11G=)
n.921-11G=
15g.28016197C>TCA267908464OCA2c.808-11G>A (n.808-11G>A)
c.574-11G>A (n.574-11G>A)
c.832-11G>A (n.832-11G>A)
n.2193-11G>A
c.637-11G>A (n.637-11G>A)
n.921-11G>A
 dbSNP gnomAD v3 gnomAD v4
15g.28016198A>TCA2627390203OCA2c.808-12T>A (n.808-12T>A)
c.574-12T>A (n.574-12T>A)
c.832-12T>A (n.832-12T>A)
n.2193-12T>A
c.637-12T>A (n.637-12T>A)
n.921-12T>A
 gnomAD v4
15g.28016199A>CCA2627390204OCA2c.808-13T>G (n.808-13T>G)
c.574-13T>G (n.574-13T>G)
c.832-13T>G (n.832-13T>G)
n.2193-13T>G
c.637-13T>G (n.637-13T>G)
n.921-13T>G
 gnomAD v4
15g.28016199A>GCA2627390205OCA2c.808-13T>C (n.808-13T>C)
c.574-13T>C (n.574-13T>C)
c.832-13T>C (n.832-13T>C)
n.2193-13T>C
c.637-13T>C (n.637-13T>C)
n.921-13T>C
 gnomAD v4
15g.28016200A>GCA2575653282OCA2c.808-14T>C (n.808-14T>C)
c.574-14T>C (n.574-14T>C)
c.832-14T>C (n.832-14T>C)
n.2193-14T>C
c.637-14T>C (n.637-14T>C)
n.921-14T>C
15g.28016201G>ACA7439337OCA2c.808-15C>T (n.808-15C>T)
c.574-15C>T (n.574-15C>T)
c.832-15C>T (n.832-15C>T)
n.2193-15C>T
c.637-15C>T (n.637-15C>T)
n.921-15C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.28016201G>CCA2627390206OCA2c.808-15C>G (n.808-15C>G)
c.574-15C>G (n.574-15C>G)
c.832-15C>G (n.832-15C>G)
n.2193-15C>G
c.637-15C>G (n.637-15C>G)
n.921-15C>G
 gnomAD v4
15g.28016201G=CA2166415921OCA2c.808-15C= (n.808-15C=)
c.574-15C= (n.574-15C=)
c.832-15C= (n.832-15C=)
n.2193-15C=
c.637-15C= (n.637-15C=)
n.921-15C=
15g.28016202C>ACA2627390207OCA2c.808-16G>T (n.808-16G>T)
c.574-16G>T (n.574-16G>T)
c.832-16G>T (n.832-16G>T)
n.2193-16G>T
c.637-16G>T (n.637-16G>T)
n.921-16G>T
 gnomAD v4
15g.28016202C>GCA2627390208OCA2c.808-16G>C (n.808-16G>C)
c.574-16G>C (n.574-16G>C)
c.832-16G>C (n.832-16G>C)
n.2193-16G>C
c.637-16G>C (n.637-16G>C)
n.921-16G>C
 gnomAD v4
15g.28016203A>GCA2627390209OCA2c.808-17T>C (n.808-17T>C)
c.574-17T>C (n.574-17T>C)
c.832-17T>C (n.832-17T>C)
n.2193-17T>C
c.637-17T>C (n.637-17T>C)
n.921-17T>C
 ClinVar gnomAD v4
15g.28016204delCA2575653283OCA2c.808-18del (n.808-18del)
c.574-18del (n.574-18del)
c.832-18del (n.832-18del)
n.2193-18del
c.637-18del (n.637-18del)
n.921-18del
15g.28016204T>CCA968026361OCA2c.808-18A>G (n.808-18A>G)
c.574-18A>G (n.574-18A>G)
c.832-18A>G (n.832-18A>G)
n.2193-18A>G
c.637-18A>G (n.637-18A>G)
n.921-18A>G
 dbSNP gnomAD v3 gnomAD v4
15g.28016204T=CA2166415922OCA2c.808-18A= (n.808-18A=)
c.574-18A= (n.574-18A=)
c.832-18A= (n.832-18A=)
n.2193-18A=
c.637-18A= (n.637-18A=)
n.921-18A=

Number of alleles fetched