Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.113118411A>CCA388785756F7c.740-2A>C (n.740-2A>C)
c.806-2A>C (n.806-2A>C)
c.554-2A>C (n.554-2A>C)
n.827-2A>C
c.599-2A>C (n.599-2A>C)
c.848-2A>C (n.848-2A>C)
c.662-2A>C (n.662-2A>C)
c.500-2A>C (n.500-2A>C)
c.809-2A>C (n.809-2A>C)
c.644-2A>C (n.644-2A>C)
c.893-2A>C (n.893-2A>C)
c.707-2A>C (n.707-2A>C)
n.824-2A>C
13g.113118411A>GCA388785758F7c.740-2A>G (n.740-2A>G)
c.806-2A>G (n.806-2A>G)
c.554-2A>G (n.554-2A>G)
n.827-2A>G
c.599-2A>G (n.599-2A>G)
c.848-2A>G (n.848-2A>G)
c.662-2A>G (n.662-2A>G)
c.500-2A>G (n.500-2A>G)
c.809-2A>G (n.809-2A>G)
c.644-2A>G (n.644-2A>G)
c.893-2A>G (n.893-2A>G)
c.707-2A>G (n.707-2A>G)
n.824-2A>G
 gnomAD v4
13g.113118411A>TCA388785757F7c.740-2A>T (n.740-2A>T)
c.806-2A>T (n.806-2A>T)
c.554-2A>T (n.554-2A>T)
n.827-2A>T
c.599-2A>T (n.599-2A>T)
c.848-2A>T (n.848-2A>T)
c.662-2A>T (n.662-2A>T)
c.500-2A>T (n.500-2A>T)
c.809-2A>T (n.809-2A>T)
c.644-2A>T (n.644-2A>T)
c.893-2A>T (n.893-2A>T)
c.707-2A>T (n.707-2A>T)
n.824-2A>T
13g.113118411_113118412delinsAGCA2120141618F7c.740-2_740-1delinsAG (n.740-2_740-1delinsAG)
c.806-2_806-1delinsAG (n.806-2_806-1delinsAG)
c.554-2_554-1delinsAG (n.554-2_554-1delinsAG)
n.827-2_827-1delinsAG
c.599-2_599-1delinsAG (n.599-2_599-1delinsAG)
c.848-2_848-1delinsAG (n.848-2_848-1delinsAG)
c.662-2_662-1delinsAG (n.662-2_662-1delinsAG)
c.500-2_500-1delinsAG (n.500-2_500-1delinsAG)
c.809-2_809-1delinsAG (n.809-2_809-1delinsAG)
c.644-2_644-1delinsAG (n.644-2_644-1delinsAG)
c.893-2_893-1delinsAG (n.893-2_893-1delinsAG)
c.707-2_707-1delinsAG (n.707-2_707-1delinsAG)
n.824-2_824-1delinsAG
13g.113118412G>ACA388785759F7c.740-1G>A (n.740-1G>A)
c.806-1G>A (n.806-1G>A)
c.554-1G>A (n.554-1G>A)
n.827-1G>A
c.599-1G>A (n.599-1G>A)
c.848-1G>A (n.848-1G>A)
c.662-1G>A (n.662-1G>A)
c.500-1G>A (n.500-1G>A)
c.809-1G>A (n.809-1G>A)
c.644-1G>A (n.644-1G>A)
c.893-1G>A (n.893-1G>A)
c.707-1G>A (n.707-1G>A)
n.824-1G>A
 gnomAD v4
13g.113118412G>CCA388785760F7c.740-1G>C (n.740-1G>C)
c.806-1G>C (n.806-1G>C)
c.554-1G>C (n.554-1G>C)
n.827-1G>C
c.599-1G>C (n.599-1G>C)
c.848-1G>C (n.848-1G>C)
c.662-1G>C (n.662-1G>C)
c.500-1G>C (n.500-1G>C)
c.809-1G>C (n.809-1G>C)
c.644-1G>C (n.644-1G>C)
c.893-1G>C (n.893-1G>C)
c.707-1G>C (n.707-1G>C)
n.824-1G>C
13g.113118412G>TCA388785761F7c.740-1G>T (n.740-1G>T)
c.806-1G>T (n.806-1G>T)
c.554-1G>T (n.554-1G>T)
n.827-1G>T
c.599-1G>T (n.599-1G>T)
c.848-1G>T (n.848-1G>T)
c.662-1G>T (n.662-1G>T)
c.500-1G>T (n.500-1G>T)
c.809-1G>T (n.809-1G>T)
c.644-1G>T (n.644-1G>T)
c.893-1G>T (n.893-1G>T)
c.707-1G>T (n.707-1G>T)
n.824-1G>T
 gnomAD v4
13g.113118413delCA695267808F7c.740del
c.806del
c.554del
n.827del
c.599del
c.848del
c.662del
c.500del
c.809del
c.644del
c.893del
c.707del
n.824del
 dbSNP
13g.113118412_113118426dupCA960396906F7c.740-1_753dup
c.806-1_819dup
c.554-1_567dup
n.827-1_840dup
c.599-1_612dup
c.848-1_861dup
c.662-1_675dup
c.500-1_513dup
c.809-1_822dup
c.644-1_657dup
c.893-1_906dup
c.707-1_720dup
n.824-1_837dup
 gnomAD v3 gnomAD v4
13g.113118412_113118427delinsGGCGAGCACGACCTCACA2120141620F7c.740-1_754delinsGGCGAGCACGACCTCA
c.806-1_820delinsGGCGAGCACGACCTCA
c.554-1_568delinsGGCGAGCACGACCTCA
n.827-1_841delinsGGCGAGCACGACCTCA
c.599-1_613delinsGGCGAGCACGACCTCA
c.848-1_862delinsGGCGAGCACGACCTCA
c.662-1_676delinsGGCGAGCACGACCTCA
c.500-1_514delinsGGCGAGCACGACCTCA
c.809-1_823delinsGGCGAGCACGACCTCA
c.644-1_658delinsGGCGAGCACGACCTCA
c.893-1_907delinsGGCGAGCACGACCTCA
c.707-1_721delinsGGCGAGCACGACCTCA
n.824-1_838delinsGGCGAGCACGACCTCA
13g.113118413G>ACA388785762F7c.740G>A (p.Gly247Asp)
c.806G>A (p.Gly269Asp)
c.554G>A (p.Gly185Asp)
n.827G>A
c.599G>A (p.Gly200Asp)
c.848G>A (p.Gly283Asp)
c.662G>A (p.Gly221Asp)
c.500G>A (p.Gly167Asp)
c.809G>A (p.Gly270Asp)
c.644G>A (p.Gly215Asp)
c.893G>A (p.Gly298Asp)
c.707G>A (p.Gly236Asp)
n.824G>A
 gnomAD v4
13g.113118413G>CCA388785763F7c.740G>C (p.Gly247Ala)
c.806G>C (p.Gly269Ala)
c.554G>C (p.Gly185Ala)
n.827G>C
c.599G>C (p.Gly200Ala)
c.848G>C (p.Gly283Ala)
c.662G>C (p.Gly221Ala)
c.500G>C (p.Gly167Ala)
c.809G>C (p.Gly270Ala)
c.644G>C (p.Gly215Ala)
c.893G>C (p.Gly298Ala)
c.707G>C (p.Gly236Ala)
n.824G>C
13g.113118413G>TCA388785764F7c.740G>T (p.Gly247Val)
c.806G>T (p.Gly269Val)
c.554G>T (p.Gly185Val)
n.827G>T
c.599G>T (p.Gly200Val)
c.848G>T (p.Gly283Val)
c.662G>T (p.Gly221Val)
c.500G>T (p.Gly167Val)
c.809G>T (p.Gly270Val)
c.644G>T (p.Gly215Val)
c.893G>T (p.Gly298Val)
c.707G>T (p.Gly236Val)
n.824G>T
13g.113118424_113118438dupCA2580616545F7c.751_765dup (p.Asp255_Gly256insLeuSerGluHisAsp)
c.817_831dup (p.Asp277_Gly278insLeuSerGluHisAsp)
c.565_579dup (p.Asp193_Gly194insLeuSerGluHisAsp)
n.838_852dup
c.610_624dup (p.Asp208_Gly209insLeuSerGluHisAsp)
c.859_873dup (p.Asp291_Gly292insLeuSerGluHisAsp)
c.673_687dup (p.Asp229_Gly230insLeuSerGluHisAsp)
c.511_525dup (p.Asp175_Gly176insLeuSerGluHisAsp)
c.820_834dup (p.Asp278_Gly279insLeuSerGluHisAsp)
c.655_669dup (p.Asp223_Gly224insLeuSerGluHisAsp)
c.904_918dup (p.Asp306_Gly307insLeuSerGluHisAsp)
c.718_732dup (p.Asp244_Gly245insLeuSerGluHisAsp)
n.835_849dup
 ClinVar gnomAD v4
13g.113118424_113118438delCA7060122F7c.751_765del (p.Leu251_Asp255del)
c.817_831del (p.Leu273_Asp277del)
c.565_579del (p.Leu189_Asp193del)
n.838_852del
c.610_624del (p.Leu204_Asp208del)
c.859_873del (p.Leu287_Asp291del)
c.673_687del (p.Leu225_Asp229del)
c.511_525del (p.Leu171_Asp175del)
c.820_834del (p.Leu274_Asp278del)
c.655_669del (p.Leu219_Asp223del)
c.904_918del (p.Leu302_Asp306del)
c.718_732del (p.Leu240_Asp244del)
n.835_849del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118414C>ACA7060123F7c.741C>A (p.Gly247=)
c.807C>A (p.Gly269=)
c.555C>A (p.Gly185=)
n.828C>A
c.600C>A (p.Gly200=)
c.849C>A (p.Gly283=)
c.663C>A (p.Gly221=)
c.501C>A (p.Gly167=)
c.810C>A (p.Gly270=)
c.645C>A (p.Gly215=)
c.894C>A (p.Gly298=)
c.708C>A (p.Gly236=)
n.825C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118414C=CA2120141627F7c.741C= (p.Gly247=)
c.807C= (p.Gly269=)
c.555C= (p.Gly185=)
n.828C=
c.600C= (p.Gly200=)
c.849C= (p.Gly283=)
c.663C= (p.Gly221=)
c.501C= (p.Gly167=)
c.810C= (p.Gly270=)
c.645C= (p.Gly215=)
c.894C= (p.Gly298=)
c.708C= (p.Gly236=)
n.825C=
13g.113118414C>GCA485423818F7c.741C>G (p.Gly247=)
c.807C>G (p.Gly269=)
c.555C>G (p.Gly185=)
n.828C>G
c.600C>G (p.Gly200=)
c.849C>G (p.Gly283=)
c.663C>G (p.Gly221=)
c.501C>G (p.Gly167=)
c.810C>G (p.Gly270=)
c.645C>G (p.Gly215=)
c.894C>G (p.Gly298=)
c.708C>G (p.Gly236=)
n.825C>G
13g.113118414C>TCA7060124F7c.741C>T (p.Gly247=)
c.807C>T (p.Gly269=)
c.555C>T (p.Gly185=)
n.828C>T
c.600C>T (p.Gly200=)
c.849C>T (p.Gly283=)
c.663C>T (p.Gly221=)
c.501C>T (p.Gly167=)
c.810C>T (p.Gly270=)
c.645C>T (p.Gly215=)
c.894C>T (p.Gly298=)
c.708C>T (p.Gly236=)
n.825C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118415G>ACA7060125F7c.742G>A (p.Glu248Lys)
c.808G>A (p.Glu270Lys)
c.556G>A (p.Glu186Lys)
n.829G>A
c.601G>A (p.Glu201Lys)
c.850G>A (p.Glu284Lys)
c.664G>A (p.Glu222Lys)
c.502G>A (p.Glu168Lys)
c.811G>A (p.Glu271Lys)
c.646G>A (p.Glu216Lys)
c.895G>A (p.Glu299Lys)
c.709G>A (p.Glu237Lys)
n.826G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
13g.113118415G>CCA388785765F7c.742G>C (p.Glu248Gln)
c.808G>C (p.Glu270Gln)
c.556G>C (p.Glu186Gln)
n.829G>C
c.601G>C (p.Glu201Gln)
c.850G>C (p.Glu284Gln)
c.664G>C (p.Glu222Gln)
c.502G>C (p.Glu168Gln)
c.811G>C (p.Glu271Gln)
c.646G>C (p.Glu216Gln)
c.895G>C (p.Glu299Gln)
c.709G>C (p.Glu237Gln)
n.826G>C
13g.113118415G=CA2120141636F7c.742G= (p.Glu248=)
c.808G= (p.Glu270=)
c.556G= (p.Glu186=)
n.829G=
c.601G= (p.Glu201=)
c.850G= (p.Glu284=)
c.664G= (p.Glu222=)
c.502G= (p.Glu168=)
c.811G= (p.Glu271=)
c.646G= (p.Glu216=)
c.895G= (p.Glu299=)
c.709G= (p.Glu237=)
n.826G=
13g.113118415G>TCA388785766F7c.742G>T (p.Glu248Ter)
c.808G>T (p.Glu270Ter)
c.556G>T (p.Glu186Ter)
n.829G>T
c.601G>T (p.Glu201Ter)
c.850G>T (p.Glu284Ter)
c.664G>T (p.Glu222Ter)
c.502G>T (p.Glu168Ter)
c.811G>T (p.Glu271Ter)
c.646G>T (p.Glu216Ter)
c.895G>T (p.Glu299Ter)
c.709G>T (p.Glu237Ter)
n.826G>T
 gnomAD v4
13g.113118416A>CCA388785769F7c.743A>C (p.Glu248Ala)
c.809A>C (p.Glu270Ala)
c.557A>C (p.Glu186Ala)
n.830A>C
c.602A>C (p.Glu201Ala)
c.851A>C (p.Glu284Ala)
c.665A>C (p.Glu222Ala)
c.503A>C (p.Glu168Ala)
c.812A>C (p.Glu271Ala)
c.647A>C (p.Glu216Ala)
c.896A>C (p.Glu299Ala)
c.710A>C (p.Glu237Ala)
n.827A>C
13g.113118416A>GCA388785767F7c.743A>G (p.Glu248Gly)
c.809A>G (p.Glu270Gly)
c.557A>G (p.Glu186Gly)
n.830A>G
c.602A>G (p.Glu201Gly)
c.851A>G (p.Glu284Gly)
c.665A>G (p.Glu222Gly)
c.503A>G (p.Glu168Gly)
c.812A>G (p.Glu271Gly)
c.647A>G (p.Glu216Gly)
c.896A>G (p.Glu299Gly)
c.710A>G (p.Glu237Gly)
n.827A>G
13g.113118416A>TCA388785768F7c.743A>T (p.Glu248Val)
c.809A>T (p.Glu270Val)
c.557A>T (p.Glu186Val)
n.830A>T
c.602A>T (p.Glu201Val)
c.851A>T (p.Glu284Val)
c.665A>T (p.Glu222Val)
c.503A>T (p.Glu168Val)
c.812A>T (p.Glu271Val)
c.647A>T (p.Glu216Val)
c.896A>T (p.Glu299Val)
c.710A>T (p.Glu237Val)
n.827A>T
13g.113118417G>ACA7060126F7c.744G>A (p.Glu248=)
c.810G>A (p.Glu270=)
c.558G>A (p.Glu186=)
n.831G>A
c.603G>A (p.Glu201=)
c.852G>A (p.Glu284=)
c.666G>A (p.Glu222=)
c.504G>A (p.Glu168=)
c.813G>A (p.Glu271=)
c.648G>A (p.Glu216=)
c.897G>A (p.Glu299=)
c.711G>A (p.Glu237=)
n.828G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118417G>CCA388785770F7c.744G>C (p.Glu248Asp)
c.810G>C (p.Glu270Asp)
c.558G>C (p.Glu186Asp)
n.831G>C
c.603G>C (p.Glu201Asp)
c.852G>C (p.Glu284Asp)
c.666G>C (p.Glu222Asp)
c.504G>C (p.Glu168Asp)
c.813G>C (p.Glu271Asp)
c.648G>C (p.Glu216Asp)
c.897G>C (p.Glu299Asp)
c.711G>C (p.Glu237Asp)
n.828G>C
13g.113118417G=CA2120141643F7c.744G= (p.Glu248=)
c.810G= (p.Glu270=)
c.558G= (p.Glu186=)
n.831G=
c.603G= (p.Glu201=)
c.852G= (p.Glu284=)
c.666G= (p.Glu222=)
c.504G= (p.Glu168=)
c.813G= (p.Glu271=)
c.648G= (p.Glu216=)
c.897G= (p.Glu299=)
c.711G= (p.Glu237=)
n.828G=
13g.113118417G>TCA388785771F7c.744G>T (p.Glu248Asp)
c.810G>T (p.Glu270Asp)
c.558G>T (p.Glu186Asp)
n.831G>T
c.603G>T (p.Glu201Asp)
c.852G>T (p.Glu284Asp)
c.666G>T (p.Glu222Asp)
c.504G>T (p.Glu168Asp)
c.813G>T (p.Glu271Asp)
c.648G>T (p.Glu216Asp)
c.897G>T (p.Glu299Asp)
c.711G>T (p.Glu237Asp)
n.828G>T
13g.113118418C>ACA388785772F7c.745C>A (p.His249Asn)
c.811C>A (p.His271Asn)
c.559C>A (p.His187Asn)
n.832C>A
c.604C>A (p.His202Asn)
c.853C>A (p.His285Asn)
c.667C>A (p.His223Asn)
c.505C>A (p.His169Asn)
c.814C>A (p.His272Asn)
c.649C>A (p.His217Asn)
c.898C>A (p.His300Asn)
c.712C>A (p.His238Asn)
n.829C>A
 gnomAD v4
13g.113118418C=CA2120141649F7c.745C= (p.His249=)
c.811C= (p.His271=)
c.559C= (p.His187=)
n.832C=
c.604C= (p.His202=)
c.853C= (p.His285=)
c.667C= (p.His223=)
c.505C= (p.His169=)
c.814C= (p.His272=)
c.649C= (p.His217=)
c.898C= (p.His300=)
c.712C= (p.His238=)
n.829C=
13g.113118418C>GCA388785773F7c.745C>G (p.His249Asp)
c.811C>G (p.His271Asp)
c.559C>G (p.His187Asp)
n.832C>G
c.604C>G (p.His202Asp)
c.853C>G (p.His285Asp)
c.667C>G (p.His223Asp)
c.505C>G (p.His169Asp)
c.814C>G (p.His272Asp)
c.649C>G (p.His217Asp)
c.898C>G (p.His300Asp)
c.712C>G (p.His238Asp)
n.829C>G
13g.113118418C>TCA7060127F7c.745C>T (p.His249Tyr)
c.811C>T (p.His271Tyr)
c.559C>T (p.His187Tyr)
n.832C>T
c.604C>T (p.His202Tyr)
c.853C>T (p.His285Tyr)
c.667C>T (p.His223Tyr)
c.505C>T (p.His169Tyr)
c.814C>T (p.His272Tyr)
c.649C>T (p.His217Tyr)
c.898C>T (p.His300Tyr)
c.712C>T (p.His238Tyr)
n.829C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118419A>CCA388785774F7c.746A>C (p.His249Pro)
c.812A>C (p.His271Pro)
c.560A>C (p.His187Pro)
n.833A>C
c.605A>C (p.His202Pro)
c.854A>C (p.His285Pro)
c.668A>C (p.His223Pro)
c.506A>C (p.His169Pro)
c.815A>C (p.His272Pro)
c.650A>C (p.His217Pro)
c.899A>C (p.His300Pro)
c.713A>C (p.His238Pro)
n.830A>C
13g.113118419A>GCA388785775F7c.746A>G (p.His249Arg)
c.812A>G (p.His271Arg)
c.560A>G (p.His187Arg)
n.833A>G
c.605A>G (p.His202Arg)
c.854A>G (p.His285Arg)
c.668A>G (p.His223Arg)
c.506A>G (p.His169Arg)
c.815A>G (p.His272Arg)
c.650A>G (p.His217Arg)
c.899A>G (p.His300Arg)
c.713A>G (p.His238Arg)
n.830A>G
13g.113118419A>TCA388785776F7c.746A>T (p.His249Leu)
c.812A>T (p.His271Leu)
c.560A>T (p.His187Leu)
n.833A>T
c.605A>T (p.His202Leu)
c.854A>T (p.His285Leu)
c.668A>T (p.His223Leu)
c.506A>T (p.His169Leu)
c.815A>T (p.His272Leu)
c.650A>T (p.His217Leu)
c.899A>T (p.His300Leu)
c.713A>T (p.His238Leu)
n.830A>T
13g.113118420C>ACA388785777F7c.747C>A (p.His249Gln)
c.813C>A (p.His271Gln)
c.561C>A (p.His187Gln)
n.834C>A
c.606C>A (p.His202Gln)
c.855C>A (p.His285Gln)
c.669C>A (p.His223Gln)
c.507C>A (p.His169Gln)
c.816C>A (p.His272Gln)
c.651C>A (p.His217Gln)
c.900C>A (p.His300Gln)
c.714C>A (p.His238Gln)
n.831C>A
13g.113118420C=CA2120141653F7c.747C= (p.His249=)
c.813C= (p.His271=)
c.561C= (p.His187=)
n.834C=
c.606C= (p.His202=)
c.855C= (p.His285=)
c.669C= (p.His223=)
c.507C= (p.His169=)
c.816C= (p.His272=)
c.651C= (p.His217=)
c.900C= (p.His300=)
c.714C= (p.His238=)
n.831C=
13g.113118420C>GCA388785778F7c.747C>G (p.His249Gln)
c.813C>G (p.His271Gln)
c.561C>G (p.His187Gln)
n.834C>G
c.606C>G (p.His202Gln)
c.855C>G (p.His285Gln)
c.669C>G (p.His223Gln)
c.507C>G (p.His169Gln)
c.816C>G (p.His272Gln)
c.651C>G (p.His217Gln)
c.900C>G (p.His300Gln)
c.714C>G (p.His238Gln)
n.831C>G
13g.113118420C>TCA256461435F7c.747C>T (p.His249=)
c.813C>T (p.His271=)
c.561C>T (p.His187=)
n.834C>T
c.606C>T (p.His202=)
c.855C>T (p.His285=)
c.669C>T (p.His223=)
c.507C>T (p.His169=)
c.816C>T (p.His272=)
c.651C>T (p.His217=)
c.900C>T (p.His300=)
c.714C>T (p.His238=)
n.831C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113118421G>ACA7060128F7c.748G>A (p.Asp250Asn)
c.814G>A (p.Asp272Asn)
c.562G>A (p.Asp188Asn)
n.835G>A
c.607G>A (p.Asp203Asn)
c.856G>A (p.Asp286Asn)
c.670G>A (p.Asp224Asn)
c.508G>A (p.Asp170Asn)
c.817G>A (p.Asp273Asn)
c.652G>A (p.Asp218Asn)
c.901G>A (p.Asp301Asn)
c.715G>A (p.Asp239Asn)
n.832G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118421G>CCA388785780F7c.748G>C (p.Asp250His)
c.814G>C (p.Asp272His)
c.562G>C (p.Asp188His)
n.835G>C
c.607G>C (p.Asp203His)
c.856G>C (p.Asp286His)
c.670G>C (p.Asp224His)
c.508G>C (p.Asp170His)
c.817G>C (p.Asp273His)
c.652G>C (p.Asp218His)
c.901G>C (p.Asp301His)
c.715G>C (p.Asp239His)
n.832G>C
 gnomAD v4
13g.113118421G=CA2120141654F7c.748G= (p.Asp250=)
c.814G= (p.Asp272=)
c.562G= (p.Asp188=)
n.835G=
c.607G= (p.Asp203=)
c.856G= (p.Asp286=)
c.670G= (p.Asp224=)
c.508G= (p.Asp170=)
c.817G= (p.Asp273=)
c.652G= (p.Asp218=)
c.901G= (p.Asp301=)
c.715G= (p.Asp239=)
n.832G=
13g.113118421G>TCA388785779F7c.748G>T (p.Asp250Tyr)
c.814G>T (p.Asp272Tyr)
c.562G>T (p.Asp188Tyr)
n.835G>T
c.607G>T (p.Asp203Tyr)
c.856G>T (p.Asp286Tyr)
c.670G>T (p.Asp224Tyr)
c.508G>T (p.Asp170Tyr)
c.817G>T (p.Asp273Tyr)
c.652G>T (p.Asp218Tyr)
c.901G>T (p.Asp301Tyr)
c.715G>T (p.Asp239Tyr)
n.832G>T
 gnomAD v4
13g.113118422A>CCA388785783F7c.749A>C (p.Asp250Ala)
c.815A>C (p.Asp272Ala)
c.563A>C (p.Asp188Ala)
n.836A>C
c.608A>C (p.Asp203Ala)
c.857A>C (p.Asp286Ala)
c.671A>C (p.Asp224Ala)
c.509A>C (p.Asp170Ala)
c.818A>C (p.Asp273Ala)
c.653A>C (p.Asp218Ala)
c.902A>C (p.Asp301Ala)
c.716A>C (p.Asp239Ala)
n.833A>C
13g.113118422A>GCA388785781F7c.749A>G (p.Asp250Gly)
c.815A>G (p.Asp272Gly)
c.563A>G (p.Asp188Gly)
n.836A>G
c.608A>G (p.Asp203Gly)
c.857A>G (p.Asp286Gly)
c.671A>G (p.Asp224Gly)
c.509A>G (p.Asp170Gly)
c.818A>G (p.Asp273Gly)
c.653A>G (p.Asp218Gly)
c.902A>G (p.Asp301Gly)
c.716A>G (p.Asp239Gly)
n.833A>G
 gnomAD v4
13g.113118422A>TCA388785782F7c.749A>T (p.Asp250Val)
c.815A>T (p.Asp272Val)
c.563A>T (p.Asp188Val)
n.836A>T
c.608A>T (p.Asp203Val)
c.857A>T (p.Asp286Val)
c.671A>T (p.Asp224Val)
c.509A>T (p.Asp170Val)
c.818A>T (p.Asp273Val)
c.653A>T (p.Asp218Val)
c.902A>T (p.Asp301Val)
c.716A>T (p.Asp239Val)
n.833A>T
13g.113118423C>ACA388785784F7c.750C>A (p.Asp250Glu)
c.816C>A (p.Asp272Glu)
c.564C>A (p.Asp188Glu)
n.837C>A
c.609C>A (p.Asp203Glu)
c.858C>A (p.Asp286Glu)
c.672C>A (p.Asp224Glu)
c.510C>A (p.Asp170Glu)
c.819C>A (p.Asp273Glu)
c.654C>A (p.Asp218Glu)
c.903C>A (p.Asp301Glu)
c.717C>A (p.Asp239Glu)
n.834C>A
 gnomAD v4
13g.113118423C>GCA388785785F7c.750C>G (p.Asp250Glu)
c.816C>G (p.Asp272Glu)
c.564C>G (p.Asp188Glu)
n.837C>G
c.609C>G (p.Asp203Glu)
c.858C>G (p.Asp286Glu)
c.672C>G (p.Asp224Glu)
c.510C>G (p.Asp170Glu)
c.819C>G (p.Asp273Glu)
c.654C>G (p.Asp218Glu)
c.903C>G (p.Asp301Glu)
c.717C>G (p.Asp239Glu)
n.834C>G
13g.113118423C>TCA485423819F7c.750C>T (p.Asp250=)
c.816C>T (p.Asp272=)
c.564C>T (p.Asp188=)
n.837C>T
c.609C>T (p.Asp203=)
c.858C>T (p.Asp286=)
c.672C>T (p.Asp224=)
c.510C>T (p.Asp170=)
c.819C>T (p.Asp273=)
c.654C>T (p.Asp218=)
c.903C>T (p.Asp301=)
c.717C>T (p.Asp239=)
n.834C>T
 gnomAD v4
13g.113118424C>ACA388785786F7c.751C>A (p.Leu251Ile)
c.817C>A (p.Leu273Ile)
c.565C>A (p.Leu189Ile)
n.838C>A
c.610C>A (p.Leu204Ile)
c.859C>A (p.Leu287Ile)
c.673C>A (p.Leu225Ile)
c.511C>A (p.Leu171Ile)
c.820C>A (p.Leu274Ile)
c.655C>A (p.Leu219Ile)
c.904C>A (p.Leu302Ile)
c.718C>A (p.Leu240Ile)
n.835C>A
13g.113118424C>GCA388785787F7c.751C>G (p.Leu251Val)
c.817C>G (p.Leu273Val)
c.565C>G (p.Leu189Val)
n.838C>G
c.610C>G (p.Leu204Val)
c.859C>G (p.Leu287Val)
c.673C>G (p.Leu225Val)
c.511C>G (p.Leu171Val)
c.820C>G (p.Leu274Val)
c.655C>G (p.Leu219Val)
c.904C>G (p.Leu302Val)
c.718C>G (p.Leu240Val)
n.835C>G
13g.113118424C>TCA388785788F7c.751C>T (p.Leu251Phe)
c.817C>T (p.Leu273Phe)
c.565C>T (p.Leu189Phe)
n.838C>T
c.610C>T (p.Leu204Phe)
c.859C>T (p.Leu287Phe)
c.673C>T (p.Leu225Phe)
c.511C>T (p.Leu171Phe)
c.820C>T (p.Leu274Phe)
c.655C>T (p.Leu219Phe)
c.904C>T (p.Leu302Phe)
c.718C>T (p.Leu240Phe)
n.835C>T
 gnomAD v4 COSMIC
13g.113118425T>ACA388785789F7c.752T>A (p.Leu251His)
c.818T>A (p.Leu273His)
c.566T>A (p.Leu189His)
n.839T>A
c.611T>A (p.Leu204His)
c.860T>A (p.Leu287His)
c.674T>A (p.Leu225His)
c.512T>A (p.Leu171His)
c.821T>A (p.Leu274His)
c.656T>A (p.Leu219His)
c.905T>A (p.Leu302His)
c.719T>A (p.Leu240His)
n.836T>A
13g.113118425T>CCA388785790F7c.752T>C (p.Leu251Pro)
c.818T>C (p.Leu273Pro)
c.566T>C (p.Leu189Pro)
n.839T>C
c.611T>C (p.Leu204Pro)
c.860T>C (p.Leu287Pro)
c.674T>C (p.Leu225Pro)
c.512T>C (p.Leu171Pro)
c.821T>C (p.Leu274Pro)
c.656T>C (p.Leu219Pro)
c.905T>C (p.Leu302Pro)
c.719T>C (p.Leu240Pro)
n.836T>C
13g.113118425T>GCA388785791F7c.752T>G (p.Leu251Arg)
c.818T>G (p.Leu273Arg)
c.566T>G (p.Leu189Arg)
n.839T>G
c.611T>G (p.Leu204Arg)
c.860T>G (p.Leu287Arg)
c.674T>G (p.Leu225Arg)
c.512T>G (p.Leu171Arg)
c.821T>G (p.Leu274Arg)
c.656T>G (p.Leu219Arg)
c.905T>G (p.Leu302Arg)
c.719T>G (p.Leu240Arg)
n.836T>G
13g.113118426C>ACA485423820F7c.753C>A (p.Leu251=)
c.819C>A (p.Leu273=)
c.567C>A (p.Leu189=)
n.840C>A
c.612C>A (p.Leu204=)
c.861C>A (p.Leu287=)
c.675C>A (p.Leu225=)
c.513C>A (p.Leu171=)
c.822C>A (p.Leu274=)
c.657C>A (p.Leu219=)
c.906C>A (p.Leu302=)
c.720C>A (p.Leu240=)
n.837C>A
13g.113118426C=CA2120141656F7c.753C= (p.Leu251=)
c.819C= (p.Leu273=)
c.567C= (p.Leu189=)
n.840C=
c.612C= (p.Leu204=)
c.861C= (p.Leu287=)
c.675C= (p.Leu225=)
c.513C= (p.Leu171=)
c.822C= (p.Leu274=)
c.657C= (p.Leu219=)
c.906C= (p.Leu302=)
c.720C= (p.Leu240=)
n.837C=
13g.113118426C>GCA485423821F7c.753C>G (p.Leu251=)
c.819C>G (p.Leu273=)
c.567C>G (p.Leu189=)
n.840C>G
c.612C>G (p.Leu204=)
c.861C>G (p.Leu287=)
c.675C>G (p.Leu225=)
c.513C>G (p.Leu171=)
c.822C>G (p.Leu274=)
c.657C>G (p.Leu219=)
c.906C>G (p.Leu302=)
c.720C>G (p.Leu240=)
n.837C>G
 dbSNP gnomAD v3 gnomAD v4
13g.113118426C>TCA485423822F7c.753C>T (p.Leu251=)
c.819C>T (p.Leu273=)
c.567C>T (p.Leu189=)
n.840C>T
c.612C>T (p.Leu204=)
c.861C>T (p.Leu287=)
c.675C>T (p.Leu225=)
c.513C>T (p.Leu171=)
c.822C>T (p.Leu274=)
c.657C>T (p.Leu219=)
c.906C>T (p.Leu302=)
c.720C>T (p.Leu240=)
n.837C>T
 dbSNP gnomAD v3 gnomAD v4
13g.113118427A=CA2120141664F7c.754A= (p.Ser252=)
c.820A= (p.Ser274=)
c.568A= (p.Ser190=)
n.841A=
c.613A= (p.Ser205=)
c.862A= (p.Ser288=)
c.676A= (p.Ser226=)
c.514A= (p.Ser172=)
c.823A= (p.Ser275=)
c.658A= (p.Ser220=)
c.907A= (p.Ser303=)
c.721A= (p.Ser241=)
n.838A=
13g.113118427A>CCA388785792F7c.754A>C (p.Ser252Arg)
c.820A>C (p.Ser274Arg)
c.568A>C (p.Ser190Arg)
n.841A>C
c.613A>C (p.Ser205Arg)
c.862A>C (p.Ser288Arg)
c.676A>C (p.Ser226Arg)
c.514A>C (p.Ser172Arg)
c.823A>C (p.Ser275Arg)
c.658A>C (p.Ser220Arg)
c.907A>C (p.Ser303Arg)
c.721A>C (p.Ser241Arg)
n.838A>C
13g.113118427A>GCA7060129F7c.754A>G (p.Ser252Gly)
c.820A>G (p.Ser274Gly)
c.568A>G (p.Ser190Gly)
n.841A>G
c.613A>G (p.Ser205Gly)
c.862A>G (p.Ser288Gly)
c.676A>G (p.Ser226Gly)
c.514A>G (p.Ser172Gly)
c.823A>G (p.Ser275Gly)
c.658A>G (p.Ser220Gly)
c.907A>G (p.Ser303Gly)
c.721A>G (p.Ser241Gly)
n.838A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118427A>TCA388785793F7c.754A>T (p.Ser252Cys)
c.820A>T (p.Ser274Cys)
c.568A>T (p.Ser190Cys)
n.841A>T
c.613A>T (p.Ser205Cys)
c.862A>T (p.Ser288Cys)
c.676A>T (p.Ser226Cys)
c.514A>T (p.Ser172Cys)
c.823A>T (p.Ser275Cys)
c.658A>T (p.Ser220Cys)
c.907A>T (p.Ser303Cys)
c.721A>T (p.Ser241Cys)
n.838A>T
13g.113118428G>ACA7060130F7c.755G>A (p.Ser252Asn)
c.821G>A (p.Ser274Asn)
c.569G>A (p.Ser190Asn)
n.842G>A
c.614G>A (p.Ser205Asn)
c.863G>A (p.Ser288Asn)
c.677G>A (p.Ser226Asn)
c.515G>A (p.Ser172Asn)
c.824G>A (p.Ser275Asn)
c.659G>A (p.Ser220Asn)
c.908G>A (p.Ser303Asn)
c.722G>A (p.Ser241Asn)
n.839G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118428G>CCA388785794F7c.755G>C (p.Ser252Thr)
c.821G>C (p.Ser274Thr)
c.569G>C (p.Ser190Thr)
n.842G>C
c.614G>C (p.Ser205Thr)
c.863G>C (p.Ser288Thr)
c.677G>C (p.Ser226Thr)
c.515G>C (p.Ser172Thr)
c.824G>C (p.Ser275Thr)
c.659G>C (p.Ser220Thr)
c.908G>C (p.Ser303Thr)
c.722G>C (p.Ser241Thr)
n.839G>C
13g.113118428G=CA2120141674F7c.755G= (p.Ser252=)
c.821G= (p.Ser274=)
c.569G= (p.Ser190=)
n.842G=
c.614G= (p.Ser205=)
c.863G= (p.Ser288=)
c.677G= (p.Ser226=)
c.515G= (p.Ser172=)
c.824G= (p.Ser275=)
c.659G= (p.Ser220=)
c.908G= (p.Ser303=)
c.722G= (p.Ser241=)
n.839G=
13g.113118428G>TCA388785795F7c.755G>T (p.Ser252Ile)
c.821G>T (p.Ser274Ile)
c.569G>T (p.Ser190Ile)
n.842G>T
c.614G>T (p.Ser205Ile)
c.863G>T (p.Ser288Ile)
c.677G>T (p.Ser226Ile)
c.515G>T (p.Ser172Ile)
c.824G>T (p.Ser275Ile)
c.659G>T (p.Ser220Ile)
c.908G>T (p.Ser303Ile)
c.722G>T (p.Ser241Ile)
n.839G>T
 gnomAD v4
13g.113118429C>ACA388785796F7c.756C>A (p.Ser252Arg)
c.822C>A (p.Ser274Arg)
c.570C>A (p.Ser190Arg)
n.843C>A
c.615C>A (p.Ser205Arg)
c.864C>A (p.Ser288Arg)
c.678C>A (p.Ser226Arg)
c.516C>A (p.Ser172Arg)
c.825C>A (p.Ser275Arg)
c.660C>A (p.Ser220Arg)
c.909C>A (p.Ser303Arg)
c.723C>A (p.Ser241Arg)
n.840C>A
 dbSNP gnomAD v4
13g.113118429C=CA2120141680F7c.756C= (p.Ser252=)
c.822C= (p.Ser274=)
c.570C= (p.Ser190=)
n.843C=
c.615C= (p.Ser205=)
c.864C= (p.Ser288=)
c.678C= (p.Ser226=)
c.516C= (p.Ser172=)
c.825C= (p.Ser275=)
c.660C= (p.Ser220=)
c.909C= (p.Ser303=)
c.723C= (p.Ser241=)
n.840C=
13g.113118429C>GCA388785797F7c.756C>G (p.Ser252Arg)
c.822C>G (p.Ser274Arg)
c.570C>G (p.Ser190Arg)
n.843C>G
c.615C>G (p.Ser205Arg)
c.864C>G (p.Ser288Arg)
c.678C>G (p.Ser226Arg)
c.516C>G (p.Ser172Arg)
c.825C>G (p.Ser275Arg)
c.660C>G (p.Ser220Arg)
c.909C>G (p.Ser303Arg)
c.723C>G (p.Ser241Arg)
n.840C>G
13g.113118429C>TCA7060131F7c.756C>T (p.Ser252=)
c.822C>T (p.Ser274=)
c.570C>T (p.Ser190=)
n.843C>T
c.615C>T (p.Ser205=)
c.864C>T (p.Ser288=)
c.678C>T (p.Ser226=)
c.516C>T (p.Ser172=)
c.825C>T (p.Ser275=)
c.660C>T (p.Ser220=)
c.909C>T (p.Ser303=)
c.723C>T (p.Ser241=)
n.840C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118430G>ACA388785798F7c.757G>A (p.Glu253Lys)
c.823G>A (p.Glu275Lys)
c.571G>A (p.Glu191Lys)
n.844G>A
c.616G>A (p.Glu206Lys)
c.865G>A (p.Glu289Lys)
c.679G>A (p.Glu227Lys)
c.517G>A (p.Glu173Lys)
c.826G>A (p.Glu276Lys)
c.661G>A (p.Glu221Lys)
c.910G>A (p.Glu304Lys)
c.724G>A (p.Glu242Lys)
n.841G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113118430G>CCA388785799F7c.757G>C (p.Glu253Gln)
c.823G>C (p.Glu275Gln)
c.571G>C (p.Glu191Gln)
n.844G>C
c.616G>C (p.Glu206Gln)
c.865G>C (p.Glu289Gln)
c.679G>C (p.Glu227Gln)
c.517G>C (p.Glu173Gln)
c.826G>C (p.Glu276Gln)
c.661G>C (p.Glu221Gln)
c.910G>C (p.Glu304Gln)
c.724G>C (p.Glu242Gln)
n.841G>C
13g.113118430G=CA2120141691F7c.757G= (p.Glu253=)
c.823G= (p.Glu275=)
c.571G= (p.Glu191=)
n.844G=
c.616G= (p.Glu206=)
c.865G= (p.Glu289=)
c.679G= (p.Glu227=)
c.517G= (p.Glu173=)
c.826G= (p.Glu276=)
c.661G= (p.Glu221=)
c.910G= (p.Glu304=)
c.724G= (p.Glu242=)
n.841G=
13g.113118430G>TCA388785800F7c.757G>T (p.Glu253Ter)
c.823G>T (p.Glu275Ter)
c.571G>T (p.Glu191Ter)
n.844G>T
c.616G>T (p.Glu206Ter)
c.865G>T (p.Glu289Ter)
c.679G>T (p.Glu227Ter)
c.517G>T (p.Glu173Ter)
c.826G>T (p.Glu276Ter)
c.661G>T (p.Glu221Ter)
c.910G>T (p.Glu304Ter)
c.724G>T (p.Glu242Ter)
n.841G>T
 gnomAD v4
13g.113118431A>CCA388785801F7c.758A>C (p.Glu253Ala)
c.824A>C (p.Glu275Ala)
c.572A>C (p.Glu191Ala)
n.845A>C
c.617A>C (p.Glu206Ala)
c.866A>C (p.Glu289Ala)
c.680A>C (p.Glu227Ala)
c.518A>C (p.Glu173Ala)
c.827A>C (p.Glu276Ala)
c.662A>C (p.Glu221Ala)
c.911A>C (p.Glu304Ala)
c.725A>C (p.Glu242Ala)
n.842A>C
13g.113118431A>GCA388785802F7c.758A>G (p.Glu253Gly)
c.824A>G (p.Glu275Gly)
c.572A>G (p.Glu191Gly)
n.845A>G
c.617A>G (p.Glu206Gly)
c.866A>G (p.Glu289Gly)
c.680A>G (p.Glu227Gly)
c.518A>G (p.Glu173Gly)
c.827A>G (p.Glu276Gly)
c.662A>G (p.Glu221Gly)
c.911A>G (p.Glu304Gly)
c.725A>G (p.Glu242Gly)
n.842A>G
13g.113118431A>TCA388785803F7c.758A>T (p.Glu253Val)
c.824A>T (p.Glu275Val)
c.572A>T (p.Glu191Val)
n.845A>T
c.617A>T (p.Glu206Val)
c.866A>T (p.Glu289Val)
c.680A>T (p.Glu227Val)
c.518A>T (p.Glu173Val)
c.827A>T (p.Glu276Val)
c.662A>T (p.Glu221Val)
c.911A>T (p.Glu304Val)
c.725A>T (p.Glu242Val)
n.842A>T
13g.113118432G>ACA7060132F7c.759G>A (p.Glu253=)
c.825G>A (p.Glu275=)
c.573G>A (p.Glu191=)
n.846G>A
c.618G>A (p.Glu206=)
c.867G>A (p.Glu289=)
c.681G>A (p.Glu227=)
c.519G>A (p.Glu173=)
c.828G>A (p.Glu276=)
c.663G>A (p.Glu221=)
c.912G>A (p.Glu304=)
c.726G>A (p.Glu242=)
n.843G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118432G>CCA388785804F7c.759G>C (p.Glu253Asp)
c.825G>C (p.Glu275Asp)
c.573G>C (p.Glu191Asp)
n.846G>C
c.618G>C (p.Glu206Asp)
c.867G>C (p.Glu289Asp)
c.681G>C (p.Glu227Asp)
c.519G>C (p.Glu173Asp)
c.828G>C (p.Glu276Asp)
c.663G>C (p.Glu221Asp)
c.912G>C (p.Glu304Asp)
c.726G>C (p.Glu242Asp)
n.843G>C
13g.113118432G=CA2120141697F7c.759G= (p.Glu253=)
c.825G= (p.Glu275=)
c.573G= (p.Glu191=)
n.846G=
c.618G= (p.Glu206=)
c.867G= (p.Glu289=)
c.681G= (p.Glu227=)
c.519G= (p.Glu173=)
c.828G= (p.Glu276=)
c.663G= (p.Glu221=)
c.912G= (p.Glu304=)
c.726G= (p.Glu242=)
n.843G=
13g.113118432G>TCA388785805F7c.759G>T (p.Glu253Asp)
c.825G>T (p.Glu275Asp)
c.573G>T (p.Glu191Asp)
n.846G>T
c.618G>T (p.Glu206Asp)
c.867G>T (p.Glu289Asp)
c.681G>T (p.Glu227Asp)
c.519G>T (p.Glu173Asp)
c.828G>T (p.Glu276Asp)
c.663G>T (p.Glu221Asp)
c.912G>T (p.Glu304Asp)
c.726G>T (p.Glu242Asp)
n.843G>T
 gnomAD v4
13g.113118433C>ACA388785807F7c.760C>A (p.His254Asn)
c.826C>A (p.His276Asn)
c.574C>A (p.His192Asn)
n.847C>A
c.619C>A (p.His207Asn)
c.868C>A (p.His290Asn)
c.682C>A (p.His228Asn)
c.520C>A (p.His174Asn)
c.829C>A (p.His277Asn)
c.664C>A (p.His222Asn)
c.913C>A (p.His305Asn)
c.727C>A (p.His243Asn)
n.844C>A
13g.113118433C=CA2120141704F7c.760C= (p.His254=)
c.826C= (p.His276=)
c.574C= (p.His192=)
n.847C=
c.619C= (p.His207=)
c.868C= (p.His290=)
c.682C= (p.His228=)
c.520C= (p.His174=)
c.829C= (p.His277=)
c.664C= (p.His222=)
c.913C= (p.His305=)
c.727C= (p.His243=)
n.844C=
13g.113118433C>GCA388785806F7c.760C>G (p.His254Asp)
c.826C>G (p.His276Asp)
c.574C>G (p.His192Asp)
n.847C>G
c.619C>G (p.His207Asp)
c.868C>G (p.His290Asp)
c.682C>G (p.His228Asp)
c.520C>G (p.His174Asp)
c.829C>G (p.His277Asp)
c.664C>G (p.His222Asp)
c.913C>G (p.His305Asp)
c.727C>G (p.His243Asp)
n.844C>G
13g.113118433C>TCA256461440F7c.760C>T (p.His254Tyr)
c.826C>T (p.His276Tyr)
c.574C>T (p.His192Tyr)
n.847C>T
c.619C>T (p.His207Tyr)
c.868C>T (p.His290Tyr)
c.682C>T (p.His228Tyr)
c.520C>T (p.His174Tyr)
c.829C>T (p.His277Tyr)
c.664C>T (p.His222Tyr)
c.913C>T (p.His305Tyr)
c.727C>T (p.His243Tyr)
n.844C>T
 dbSNP gnomAD v4
13g.113118434A>CCA388785808F7c.761A>C (p.His254Pro)
c.827A>C (p.His276Pro)
c.575A>C (p.His192Pro)
n.848A>C
c.620A>C (p.His207Pro)
c.869A>C (p.His290Pro)
c.683A>C (p.His228Pro)
c.521A>C (p.His174Pro)
c.830A>C (p.His277Pro)
c.665A>C (p.His222Pro)
c.914A>C (p.His305Pro)
c.728A>C (p.His243Pro)
n.845A>C
13g.113118434A>GCA388785809F7c.761A>G (p.His254Arg)
c.827A>G (p.His276Arg)
c.575A>G (p.His192Arg)
n.848A>G
c.620A>G (p.His207Arg)
c.869A>G (p.His290Arg)
c.683A>G (p.His228Arg)
c.521A>G (p.His174Arg)
c.830A>G (p.His277Arg)
c.665A>G (p.His222Arg)
c.914A>G (p.His305Arg)
c.728A>G (p.His243Arg)
n.845A>G
13g.113118434A>TCA388785810F7c.761A>T (p.His254Leu)
c.827A>T (p.His276Leu)
c.575A>T (p.His192Leu)
n.848A>T
c.620A>T (p.His207Leu)
c.869A>T (p.His290Leu)
c.683A>T (p.His228Leu)
c.521A>T (p.His174Leu)
c.830A>T (p.His277Leu)
c.665A>T (p.His222Leu)
c.914A>T (p.His305Leu)
c.728A>T (p.His243Leu)
n.845A>T
13g.113118435C>ACA388785811F7c.762C>A (p.His254Gln)
c.828C>A (p.His276Gln)
c.576C>A (p.His192Gln)
n.849C>A
c.621C>A (p.His207Gln)
c.870C>A (p.His290Gln)
c.684C>A (p.His228Gln)
c.522C>A (p.His174Gln)
c.831C>A (p.His277Gln)
c.666C>A (p.His222Gln)
c.915C>A (p.His305Gln)
c.729C>A (p.His243Gln)
n.846C>A
13g.113118435C=CA2120141711F7c.762C= (p.His254=)
c.828C= (p.His276=)
c.576C= (p.His192=)
n.849C=
c.621C= (p.His207=)
c.870C= (p.His290=)
c.684C= (p.His228=)
c.522C= (p.His174=)
c.831C= (p.His277=)
c.666C= (p.His222=)
c.915C= (p.His305=)
c.729C= (p.His243=)
n.846C=
13g.113118435C>GCA388785812F7c.762C>G (p.His254Gln)
c.828C>G (p.His276Gln)
c.576C>G (p.His192Gln)
n.849C>G
c.621C>G (p.His207Gln)
c.870C>G (p.His290Gln)
c.684C>G (p.His228Gln)
c.522C>G (p.His174Gln)
c.831C>G (p.His277Gln)
c.666C>G (p.His222Gln)
c.915C>G (p.His305Gln)
c.729C>G (p.His243Gln)
n.846C>G
13g.113118435C>TCA7060133F7c.762C>T (p.His254=)
c.828C>T (p.His276=)
c.576C>T (p.His192=)
n.849C>T
c.621C>T (p.His207=)
c.870C>T (p.His290=)
c.684C>T (p.His228=)
c.522C>T (p.His174=)
c.831C>T (p.His277=)
c.666C>T (p.His222=)
c.915C>T (p.His305=)
c.729C>T (p.His243=)
n.846C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118436G>ACA7060134F7c.763G>A (p.Asp255Asn)
c.829G>A (p.Asp277Asn)
c.577G>A (p.Asp193Asn)
n.850G>A
c.622G>A (p.Asp208Asn)
c.871G>A (p.Asp291Asn)
c.685G>A (p.Asp229Asn)
c.523G>A (p.Asp175Asn)
c.832G>A (p.Asp278Asn)
c.667G>A (p.Asp223Asn)
c.916G>A (p.Asp306Asn)
c.730G>A (p.Asp244Asn)
n.847G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
13g.113118436G>CCA7060135F7c.763G>C (p.Asp255His)
c.829G>C (p.Asp277His)
c.577G>C (p.Asp193His)
n.850G>C
c.622G>C (p.Asp208His)
c.871G>C (p.Asp291His)
c.685G>C (p.Asp229His)
c.523G>C (p.Asp175His)
c.832G>C (p.Asp278His)
c.667G>C (p.Asp223His)
c.916G>C (p.Asp306His)
c.730G>C (p.Asp244His)
n.847G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118436G=CA2120141714F7c.763G= (p.Asp255=)
c.829G= (p.Asp277=)
c.577G= (p.Asp193=)
n.850G=
c.622G= (p.Asp208=)
c.871G= (p.Asp291=)
c.685G= (p.Asp229=)
c.523G= (p.Asp175=)
c.832G= (p.Asp278=)
c.667G= (p.Asp223=)
c.916G= (p.Asp306=)
c.730G= (p.Asp244=)
n.847G=
13g.113118436G>TCA388785813F7c.763G>T (p.Asp255Tyr)
c.829G>T (p.Asp277Tyr)
c.577G>T (p.Asp193Tyr)
n.850G>T
c.622G>T (p.Asp208Tyr)
c.871G>T (p.Asp291Tyr)
c.685G>T (p.Asp229Tyr)
c.523G>T (p.Asp175Tyr)
c.832G>T (p.Asp278Tyr)
c.667G>T (p.Asp223Tyr)
c.916G>T (p.Asp306Tyr)
c.730G>T (p.Asp244Tyr)
n.847G>T
 dbSNP gnomAD v2 gnomAD v4
13g.113118437A=CA2120141722F7c.764A= (p.Asp255=)
c.830A= (p.Asp277=)
c.578A= (p.Asp193=)
n.851A=
c.623A= (p.Asp208=)
c.872A= (p.Asp291=)
c.686A= (p.Asp229=)
c.524A= (p.Asp175=)
c.833A= (p.Asp278=)
c.668A= (p.Asp223=)
c.917A= (p.Asp306=)
c.731A= (p.Asp244=)
n.848A=
13g.113118437A>CCA388785814F7c.764A>C (p.Asp255Ala)
c.830A>C (p.Asp277Ala)
c.578A>C (p.Asp193Ala)
n.851A>C
c.623A>C (p.Asp208Ala)
c.872A>C (p.Asp291Ala)
c.686A>C (p.Asp229Ala)
c.524A>C (p.Asp175Ala)
c.833A>C (p.Asp278Ala)
c.668A>C (p.Asp223Ala)
c.917A>C (p.Asp306Ala)
c.731A>C (p.Asp244Ala)
n.848A>C
13g.113118437A>GCA7060136F7c.764A>G (p.Asp255Gly)
c.830A>G (p.Asp277Gly)
c.578A>G (p.Asp193Gly)
n.851A>G
c.623A>G (p.Asp208Gly)
c.872A>G (p.Asp291Gly)
c.686A>G (p.Asp229Gly)
c.524A>G (p.Asp175Gly)
c.833A>G (p.Asp278Gly)
c.668A>G (p.Asp223Gly)
c.917A>G (p.Asp306Gly)
c.731A>G (p.Asp244Gly)
n.848A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118437A>TCA388785815F7c.764A>T (p.Asp255Val)
c.830A>T (p.Asp277Val)
c.578A>T (p.Asp193Val)
n.851A>T
c.623A>T (p.Asp208Val)
c.872A>T (p.Asp291Val)
c.686A>T (p.Asp229Val)
c.524A>T (p.Asp175Val)
c.833A>T (p.Asp278Val)
c.668A>T (p.Asp223Val)
c.917A>T (p.Asp306Val)
c.731A>T (p.Asp244Val)
n.848A>T
13g.113118438C>ACA388785816F7c.765C>A (p.Asp255Glu)
c.831C>A (p.Asp277Glu)
c.579C>A (p.Asp193Glu)
n.852C>A
c.624C>A (p.Asp208Glu)
c.873C>A (p.Asp291Glu)
c.687C>A (p.Asp229Glu)
c.525C>A (p.Asp175Glu)
c.834C>A (p.Asp278Glu)
c.669C>A (p.Asp223Glu)
c.918C>A (p.Asp306Glu)
c.732C>A (p.Asp244Glu)
n.849C>A
 gnomAD v4
13g.113118438C=CA2120141725F7c.765C= (p.Asp255=)
c.831C= (p.Asp277=)
c.579C= (p.Asp193=)
n.852C=
c.624C= (p.Asp208=)
c.873C= (p.Asp291=)
c.687C= (p.Asp229=)
c.525C= (p.Asp175=)
c.834C= (p.Asp278=)
c.669C= (p.Asp223=)
c.918C= (p.Asp306=)
c.732C= (p.Asp244=)
n.849C=
13g.113118438C>GCA388785817F7c.765C>G (p.Asp255Glu)
c.831C>G (p.Asp277Glu)
c.579C>G (p.Asp193Glu)
n.852C>G
c.624C>G (p.Asp208Glu)
c.873C>G (p.Asp291Glu)
c.687C>G (p.Asp229Glu)
c.525C>G (p.Asp175Glu)
c.834C>G (p.Asp278Glu)
c.669C>G (p.Asp223Glu)
c.918C>G (p.Asp306Glu)
c.732C>G (p.Asp244Glu)
n.849C>G
 dbSNP gnomAD v3 gnomAD v4
13g.113118438C>TCA7060137F7c.765C>T (p.Asp255=)
c.831C>T (p.Asp277=)
c.579C>T (p.Asp193=)
n.852C>T
c.624C>T (p.Asp208=)
c.873C>T (p.Asp291=)
c.687C>T (p.Asp229=)
c.525C>T (p.Asp175=)
c.834C>T (p.Asp278=)
c.669C>T (p.Asp223=)
c.918C>T (p.Asp306=)
c.732C>T (p.Asp244=)
n.849C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118439G>ACA7060138F7c.766G>A (p.Gly256Arg)
c.832G>A (p.Gly278Arg)
c.580G>A (p.Gly194Arg)
n.853G>A
c.625G>A (p.Gly209Arg)
c.874G>A (p.Gly292Arg)
c.688G>A (p.Gly230Arg)
c.526G>A (p.Gly176Arg)
c.835G>A (p.Gly279Arg)
c.670G>A (p.Gly224Arg)
c.919G>A (p.Gly307Arg)
c.733G>A (p.Gly245Arg)
n.850G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113118439G>CCA388785819F7c.766G>C (p.Gly256Arg)
c.832G>C (p.Gly278Arg)
c.580G>C (p.Gly194Arg)
n.853G>C
c.625G>C (p.Gly209Arg)
c.874G>C (p.Gly292Arg)
c.688G>C (p.Gly230Arg)
c.526G>C (p.Gly176Arg)
c.835G>C (p.Gly279Arg)
c.670G>C (p.Gly224Arg)
c.919G>C (p.Gly307Arg)
c.733G>C (p.Gly245Arg)
n.850G>C
 dbSNP
13g.113118439G=CA2120141732F7c.766G= (p.Gly256=)
c.832G= (p.Gly278=)
c.580G= (p.Gly194=)
n.853G=
c.625G= (p.Gly209=)
c.874G= (p.Gly292=)
c.688G= (p.Gly230=)
c.526G= (p.Gly176=)
c.835G= (p.Gly279=)
c.670G= (p.Gly224=)
c.919G= (p.Gly307=)
c.733G= (p.Gly245=)
n.850G=
13g.113118439G>TCA388785818F7c.766G>T (p.Gly256Trp)
c.832G>T (p.Gly278Trp)
c.580G>T (p.Gly194Trp)
n.853G>T
c.625G>T (p.Gly209Trp)
c.874G>T (p.Gly292Trp)
c.688G>T (p.Gly230Trp)
c.526G>T (p.Gly176Trp)
c.835G>T (p.Gly279Trp)
c.670G>T (p.Gly224Trp)
c.919G>T (p.Gly307Trp)
c.733G>T (p.Gly245Trp)
n.850G>T
 gnomAD v4
13g.113118440G>ACA388785820F7c.767G>A (p.Gly256Glu)
c.833G>A (p.Gly278Glu)
c.581G>A (p.Gly194Glu)
n.854G>A
c.626G>A (p.Gly209Glu)
c.875G>A (p.Gly292Glu)
c.689G>A (p.Gly230Glu)
c.527G>A (p.Gly176Glu)
c.836G>A (p.Gly279Glu)
c.671G>A (p.Gly224Glu)
c.920G>A (p.Gly307Glu)
c.734G>A (p.Gly245Glu)
n.851G>A
 dbSNP gnomAD v2 gnomAD v4
13g.113118440G>CCA388785821F7c.767G>C (p.Gly256Ala)
c.833G>C (p.Gly278Ala)
c.581G>C (p.Gly194Ala)
n.854G>C
c.626G>C (p.Gly209Ala)
c.875G>C (p.Gly292Ala)
c.689G>C (p.Gly230Ala)
c.527G>C (p.Gly176Ala)
c.836G>C (p.Gly279Ala)
c.671G>C (p.Gly224Ala)
c.920G>C (p.Gly307Ala)
c.734G>C (p.Gly245Ala)
n.851G>C
13g.113118440G=CA2120141740F7c.767G= (p.Gly256=)
c.833G= (p.Gly278=)
c.581G= (p.Gly194=)
n.854G=
c.626G= (p.Gly209=)
c.875G= (p.Gly292=)
c.689G= (p.Gly230=)
c.527G= (p.Gly176=)
c.836G= (p.Gly279=)
c.671G= (p.Gly224=)
c.920G= (p.Gly307=)
c.734G= (p.Gly245=)
n.851G=
13g.113118440G>TCA388785822F7c.767G>T (p.Gly256Val)
c.833G>T (p.Gly278Val)
c.581G>T (p.Gly194Val)
n.854G>T
c.626G>T (p.Gly209Val)
c.875G>T (p.Gly292Val)
c.689G>T (p.Gly230Val)
c.527G>T (p.Gly176Val)
c.836G>T (p.Gly279Val)
c.671G>T (p.Gly224Val)
c.920G>T (p.Gly307Val)
c.734G>T (p.Gly245Val)
n.851G>T
 gnomAD v4
13g.113118441G>ACA485423823F7c.768G>A (p.Gly256=)
c.834G>A (p.Gly278=)
c.582G>A (p.Gly194=)
n.855G>A
c.627G>A (p.Gly209=)
c.876G>A (p.Gly292=)
c.690G>A (p.Gly230=)
c.528G>A (p.Gly176=)
c.837G>A (p.Gly279=)
c.672G>A (p.Gly224=)
c.921G>A (p.Gly307=)
c.735G>A (p.Gly245=)
n.852G>A
13g.113118441G>CCA485423824F7c.768G>C (p.Gly256=)
c.834G>C (p.Gly278=)
c.582G>C (p.Gly194=)
n.855G>C
c.627G>C (p.Gly209=)
c.876G>C (p.Gly292=)
c.690G>C (p.Gly230=)
c.528G>C (p.Gly176=)
c.837G>C (p.Gly279=)
c.672G>C (p.Gly224=)
c.921G>C (p.Gly307=)
c.735G>C (p.Gly245=)
n.852G>C
13g.113118441G=CA2120141743F7c.768G= (p.Gly256=)
c.834G= (p.Gly278=)
c.582G= (p.Gly194=)
n.855G=
c.627G= (p.Gly209=)
c.876G= (p.Gly292=)
c.690G= (p.Gly230=)
c.528G= (p.Gly176=)
c.837G= (p.Gly279=)
c.672G= (p.Gly224=)
c.921G= (p.Gly307=)
c.735G= (p.Gly245=)
n.852G=
13g.113118441G>TCA485423825F7c.768G>T (p.Gly256=)
c.834G>T (p.Gly278=)
c.582G>T (p.Gly194=)
n.855G>T
c.627G>T (p.Gly209=)
c.876G>T (p.Gly292=)
c.690G>T (p.Gly230=)
c.528G>T (p.Gly176=)
c.837G>T (p.Gly279=)
c.672G>T (p.Gly224=)
c.921G>T (p.Gly307=)
c.735G>T (p.Gly245=)
n.852G>T
 dbSNP gnomAD v2 gnomAD v4
13g.113118442G>ACA388785823F7c.769G>A (p.Asp257Asn)
c.835G>A (p.Asp279Asn)
c.583G>A (p.Asp195Asn)
n.856G>A
c.628G>A (p.Asp210Asn)
c.877G>A (p.Asp293Asn)
c.691G>A (p.Asp231Asn)
c.529G>A (p.Asp177Asn)
c.838G>A (p.Asp280Asn)
c.673G>A (p.Asp225Asn)
c.922G>A (p.Asp308Asn)
c.736G>A (p.Asp246Asn)
n.853G>A
13g.113118442G>CCA388785824F7c.769G>C (p.Asp257His)
c.835G>C (p.Asp279His)
c.583G>C (p.Asp195His)
n.856G>C
c.628G>C (p.Asp210His)
c.877G>C (p.Asp293His)
c.691G>C (p.Asp231His)
c.529G>C (p.Asp177His)
c.838G>C (p.Asp280His)
c.673G>C (p.Asp225His)
c.922G>C (p.Asp308His)
c.736G>C (p.Asp246His)
n.853G>C
13g.113118442G=CA2120141752F7c.769G= (p.Asp257=)
c.835G= (p.Asp279=)
c.583G= (p.Asp195=)
n.856G=
c.628G= (p.Asp210=)
c.877G= (p.Asp293=)
c.691G= (p.Asp231=)
c.529G= (p.Asp177=)
c.838G= (p.Asp280=)
c.673G= (p.Asp225=)
c.922G= (p.Asp308=)
c.736G= (p.Asp246=)
n.853G=
13g.113118442G>TCA388785825F7c.769G>T (p.Asp257Tyr)
c.835G>T (p.Asp279Tyr)
c.583G>T (p.Asp195Tyr)
n.856G>T
c.628G>T (p.Asp210Tyr)
c.877G>T (p.Asp293Tyr)
c.691G>T (p.Asp231Tyr)
c.529G>T (p.Asp177Tyr)
c.838G>T (p.Asp280Tyr)
c.673G>T (p.Asp225Tyr)
c.922G>T (p.Asp308Tyr)
c.736G>T (p.Asp246Tyr)
n.853G>T
 dbSNP gnomAD v2 gnomAD v4
13g.113118443A>CCA388785826F7c.770A>C (p.Asp257Ala)
c.836A>C (p.Asp279Ala)
c.584A>C (p.Asp195Ala)
n.857A>C
c.629A>C (p.Asp210Ala)
c.878A>C (p.Asp293Ala)
c.692A>C (p.Asp231Ala)
c.530A>C (p.Asp177Ala)
c.839A>C (p.Asp280Ala)
c.674A>C (p.Asp225Ala)
c.923A>C (p.Asp308Ala)
c.737A>C (p.Asp246Ala)
n.854A>C
13g.113118443A>GCA388785827F7c.770A>G (p.Asp257Gly)
c.836A>G (p.Asp279Gly)
c.584A>G (p.Asp195Gly)
n.857A>G
c.629A>G (p.Asp210Gly)
c.878A>G (p.Asp293Gly)
c.692A>G (p.Asp231Gly)
c.530A>G (p.Asp177Gly)
c.839A>G (p.Asp280Gly)
c.674A>G (p.Asp225Gly)
c.923A>G (p.Asp308Gly)
c.737A>G (p.Asp246Gly)
n.854A>G
 gnomAD v4
13g.113118443A>TCA388785828F7c.770A>T (p.Asp257Val)
c.836A>T (p.Asp279Val)
c.584A>T (p.Asp195Val)
n.857A>T
c.629A>T (p.Asp210Val)
c.878A>T (p.Asp293Val)
c.692A>T (p.Asp231Val)
c.530A>T (p.Asp177Val)
c.839A>T (p.Asp280Val)
c.674A>T (p.Asp225Val)
c.923A>T (p.Asp308Val)
c.737A>T (p.Asp246Val)
n.854A>T
13g.113118444T>ACA388785829F7c.771T>A (p.Asp257Glu)
c.837T>A (p.Asp279Glu)
c.585T>A (p.Asp195Glu)
n.858T>A
c.630T>A (p.Asp210Glu)
c.879T>A (p.Asp293Glu)
c.693T>A (p.Asp231Glu)
c.531T>A (p.Asp177Glu)
c.840T>A (p.Asp280Glu)
c.675T>A (p.Asp225Glu)
c.924T>A (p.Asp308Glu)
c.738T>A (p.Asp246Glu)
n.855T>A
 gnomAD v4
13g.113118444T>CCA485423826F7c.771T>C (p.Asp257=)
c.837T>C (p.Asp279=)
c.585T>C (p.Asp195=)
n.858T>C
c.630T>C (p.Asp210=)
c.879T>C (p.Asp293=)
c.693T>C (p.Asp231=)
c.531T>C (p.Asp177=)
c.840T>C (p.Asp280=)
c.675T>C (p.Asp225=)
c.924T>C (p.Asp308=)
c.738T>C (p.Asp246=)
n.855T>C
 dbSNP gnomAD v4
13g.113118444T>GCA388785830F7c.771T>G (p.Asp257Glu)
c.837T>G (p.Asp279Glu)
c.585T>G (p.Asp195Glu)
n.858T>G
c.630T>G (p.Asp210Glu)
c.879T>G (p.Asp293Glu)
c.693T>G (p.Asp231Glu)
c.531T>G (p.Asp177Glu)
c.840T>G (p.Asp280Glu)
c.675T>G (p.Asp225Glu)
c.924T>G (p.Asp308Glu)
c.738T>G (p.Asp246Glu)
n.855T>G
13g.113118445G>ACA388785833F7c.772G>A (p.Glu258Lys)
c.838G>A (p.Glu280Lys)
c.586G>A (p.Glu196Lys)
n.859G>A
c.631G>A (p.Glu211Lys)
c.880G>A (p.Glu294Lys)
c.694G>A (p.Glu232Lys)
c.532G>A (p.Glu178Lys)
c.841G>A (p.Glu281Lys)
c.676G>A (p.Glu226Lys)
c.925G>A (p.Glu309Lys)
c.739G>A (p.Glu247Lys)
n.856G>A
 dbSNP
13g.113118445G>CCA388785832F7c.772G>C (p.Glu258Gln)
c.838G>C (p.Glu280Gln)
c.586G>C (p.Glu196Gln)
n.859G>C
c.631G>C (p.Glu211Gln)
c.880G>C (p.Glu294Gln)
c.694G>C (p.Glu232Gln)
c.532G>C (p.Glu178Gln)
c.841G>C (p.Glu281Gln)
c.676G>C (p.Glu226Gln)
c.925G>C (p.Glu309Gln)
c.739G>C (p.Glu247Gln)
n.856G>C
13g.113118445G>TCA388785831F7c.772G>T (p.Glu258Ter)
c.838G>T (p.Glu280Ter)
c.586G>T (p.Glu196Ter)
n.859G>T
c.631G>T (p.Glu211Ter)
c.880G>T (p.Glu294Ter)
c.694G>T (p.Glu232Ter)
c.532G>T (p.Glu178Ter)
c.841G>T (p.Glu281Ter)
c.676G>T (p.Glu226Ter)
c.925G>T (p.Glu309Ter)
c.739G>T (p.Glu247Ter)
n.856G>T
 gnomAD v4
13g.113118446A=CA2120141759F7c.773A= (p.Glu258=)
c.839A= (p.Glu280=)
c.587A= (p.Glu196=)
n.860A=
c.632A= (p.Glu211=)
c.881A= (p.Glu294=)
c.695A= (p.Glu232=)
c.533A= (p.Glu178=)
c.842A= (p.Glu281=)
c.677A= (p.Glu226=)
c.926A= (p.Glu309=)
c.740A= (p.Glu247=)
n.857A=
13g.113118446A>CCA256461458F7c.773A>C (p.Glu258Ala)
c.839A>C (p.Glu280Ala)
c.587A>C (p.Glu196Ala)
n.860A>C
c.632A>C (p.Glu211Ala)
c.881A>C (p.Glu294Ala)
c.695A>C (p.Glu232Ala)
c.533A>C (p.Glu178Ala)
c.842A>C (p.Glu281Ala)
c.677A>C (p.Glu226Ala)
c.926A>C (p.Glu309Ala)
c.740A>C (p.Glu247Ala)
n.857A>C
 dbSNP
13g.113118446A>GCA388785835F7c.773A>G (p.Glu258Gly)
c.839A>G (p.Glu280Gly)
c.587A>G (p.Glu196Gly)
n.860A>G
c.632A>G (p.Glu211Gly)
c.881A>G (p.Glu294Gly)
c.695A>G (p.Glu232Gly)
c.533A>G (p.Glu178Gly)
c.842A>G (p.Glu281Gly)
c.677A>G (p.Glu226Gly)
c.926A>G (p.Glu309Gly)
c.740A>G (p.Glu247Gly)
n.857A>G
13g.113118446A>TCA388785834F7c.773A>T (p.Glu258Val)
c.839A>T (p.Glu280Val)
c.587A>T (p.Glu196Val)
n.860A>T
c.632A>T (p.Glu211Val)
c.881A>T (p.Glu294Val)
c.695A>T (p.Glu232Val)
c.533A>T (p.Glu178Val)
c.842A>T (p.Glu281Val)
c.677A>T (p.Glu226Val)
c.926A>T (p.Glu309Val)
c.740A>T (p.Glu247Val)
n.857A>T
13g.113118447G>ACA7060139F7c.774G>A (p.Glu258=)
c.840G>A (p.Glu280=)
c.588G>A (p.Glu196=)
n.861G>A
c.633G>A (p.Glu211=)
c.882G>A (p.Glu294=)
c.696G>A (p.Glu232=)
c.534G>A (p.Glu178=)
c.843G>A (p.Glu281=)
c.678G>A (p.Glu226=)
c.927G>A (p.Glu309=)
c.741G>A (p.Glu247=)
n.858G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118447G>CCA388785837F7c.774G>C (p.Glu258Asp)
c.840G>C (p.Glu280Asp)
c.588G>C (p.Glu196Asp)
n.861G>C
c.633G>C (p.Glu211Asp)
c.882G>C (p.Glu294Asp)
c.696G>C (p.Glu232Asp)
c.534G>C (p.Glu178Asp)
c.843G>C (p.Glu281Asp)
c.678G>C (p.Glu226Asp)
c.927G>C (p.Glu309Asp)
c.741G>C (p.Glu247Asp)
n.858G>C
13g.113118447G=CA2120141766F7c.774G= (p.Glu258=)
c.840G= (p.Glu280=)
c.588G= (p.Glu196=)
n.861G=
c.633G= (p.Glu211=)
c.882G= (p.Glu294=)
c.696G= (p.Glu232=)
c.534G= (p.Glu178=)
c.843G= (p.Glu281=)
c.678G= (p.Glu226=)
c.927G= (p.Glu309=)
c.741G= (p.Glu247=)
n.858G=
13g.113118447G>TCA388785836F7c.774G>T (p.Glu258Asp)
c.840G>T (p.Glu280Asp)
c.588G>T (p.Glu196Asp)
n.861G>T
c.633G>T (p.Glu211Asp)
c.882G>T (p.Glu294Asp)
c.696G>T (p.Glu232Asp)
c.534G>T (p.Glu178Asp)
c.843G>T (p.Glu281Asp)
c.678G>T (p.Glu226Asp)
c.927G>T (p.Glu309Asp)
c.741G>T (p.Glu247Asp)
n.858G>T
13g.113118448C>ACA388785838F7c.775C>A (p.Gln259Lys)
c.841C>A (p.Gln281Lys)
c.589C>A (p.Gln197Lys)
n.862C>A
c.634C>A (p.Gln212Lys)
c.883C>A (p.Gln295Lys)
c.697C>A (p.Gln233Lys)
c.535C>A (p.Gln179Lys)
c.844C>A (p.Gln282Lys)
c.679C>A (p.Gln227Lys)
c.928C>A (p.Gln310Lys)
c.742C>A (p.Gln248Lys)
n.859C>A
 gnomAD v4
13g.113118448C>GCA388785840F7c.775C>G (p.Gln259Glu)
c.841C>G (p.Gln281Glu)
c.589C>G (p.Gln197Glu)
n.862C>G
c.634C>G (p.Gln212Glu)
c.883C>G (p.Gln295Glu)
c.697C>G (p.Gln233Glu)
c.535C>G (p.Gln179Glu)
c.844C>G (p.Gln282Glu)
c.679C>G (p.Gln227Glu)
c.928C>G (p.Gln310Glu)
c.742C>G (p.Gln248Glu)
n.859C>G
13g.113118448C>TCA388785839F7c.775C>T (p.Gln259Ter)
c.841C>T (p.Gln281Ter)
c.589C>T (p.Gln197Ter)
n.862C>T
c.634C>T (p.Gln212Ter)
c.883C>T (p.Gln295Ter)
c.697C>T (p.Gln233Ter)
c.535C>T (p.Gln179Ter)
c.844C>T (p.Gln282Ter)
c.679C>T (p.Gln227Ter)
c.928C>T (p.Gln310Ter)
c.742C>T (p.Gln248Ter)
n.859C>T
 dbSNP gnomAD v4
13g.113118451_113118482delCA2623808918F7c.778_809del (p.Ser260HisfsTer24)
c.844_875del (p.Ser282HisfsTer24)
c.592_623del (p.Ser198HisfsTer24)
n.865_896del
c.637_668del (p.Ser213HisfsTer24)
c.886_917del (p.Ser296HisfsTer24)
c.700_731del (p.Ser234HisfsTer24)
c.538_569del (p.Ser180HisfsTer24)
c.847_878del (p.Ser283HisfsTer24)
c.682_713del (p.Ser228HisfsTer24)
c.931_962del (p.Ser311HisfsTer24)
c.745_776del (p.Ser249HisfsTer24)
n.862_893del
 gnomAD v4
13g.113118449A>CCA388785841F7c.776A>C (p.Gln259Pro)
c.842A>C (p.Gln281Pro)
c.590A>C (p.Gln197Pro)
n.863A>C
c.635A>C (p.Gln212Pro)
c.884A>C (p.Gln295Pro)
c.698A>C (p.Gln233Pro)
c.536A>C (p.Gln179Pro)
c.845A>C (p.Gln282Pro)
c.680A>C (p.Gln227Pro)
c.929A>C (p.Gln310Pro)
c.743A>C (p.Gln248Pro)
n.860A>C
13g.113118449A>GCA388785842F7c.776A>G (p.Gln259Arg)
c.842A>G (p.Gln281Arg)
c.590A>G (p.Gln197Arg)
n.863A>G
c.635A>G (p.Gln212Arg)
c.884A>G (p.Gln295Arg)
c.698A>G (p.Gln233Arg)
c.536A>G (p.Gln179Arg)
c.845A>G (p.Gln282Arg)
c.680A>G (p.Gln227Arg)
c.929A>G (p.Gln310Arg)
c.743A>G (p.Gln248Arg)
n.860A>G
13g.113118449A>TCA388785843F7c.776A>T (p.Gln259Leu)
c.842A>T (p.Gln281Leu)
c.590A>T (p.Gln197Leu)
n.863A>T
c.635A>T (p.Gln212Leu)
c.884A>T (p.Gln295Leu)
c.698A>T (p.Gln233Leu)
c.536A>T (p.Gln179Leu)
c.845A>T (p.Gln282Leu)
c.680A>T (p.Gln227Leu)
c.929A>T (p.Gln310Leu)
c.743A>T (p.Gln248Leu)
n.860A>T
13g.113118450G>ACA485423827F7c.777G>A (p.Gln259=)
c.843G>A (p.Gln281=)
c.591G>A (p.Gln197=)
n.864G>A
c.636G>A (p.Gln212=)
c.885G>A (p.Gln295=)
c.699G>A (p.Gln233=)
c.537G>A (p.Gln179=)
c.846G>A (p.Gln282=)
c.681G>A (p.Gln227=)
c.930G>A (p.Gln310=)
c.744G>A (p.Gln248=)
n.861G>A
 COSMIC COSMIC
13g.113118450G>CCA388785844F7c.777G>C (p.Gln259His)
c.843G>C (p.Gln281His)
c.591G>C (p.Gln197His)
n.864G>C
c.636G>C (p.Gln212His)
c.885G>C (p.Gln295His)
c.699G>C (p.Gln233His)
c.537G>C (p.Gln179His)
c.846G>C (p.Gln282His)
c.681G>C (p.Gln227His)
c.930G>C (p.Gln310His)
c.744G>C (p.Gln248His)
n.861G>C
 gnomAD v4
13g.113118450G>TCA388785845F7c.777G>T (p.Gln259His)
c.843G>T (p.Gln281His)
c.591G>T (p.Gln197His)
n.864G>T
c.636G>T (p.Gln212His)
c.885G>T (p.Gln295His)
c.699G>T (p.Gln233His)
c.537G>T (p.Gln179His)
c.846G>T (p.Gln282His)
c.681G>T (p.Gln227His)
c.930G>T (p.Gln310His)
c.744G>T (p.Gln248His)
n.861G>T
 gnomAD v4
13g.113118451A>CCA388785846F7c.778A>C (p.Ser260Arg)
c.844A>C (p.Ser282Arg)
c.592A>C (p.Ser198Arg)
n.865A>C
c.637A>C (p.Ser213Arg)
c.886A>C (p.Ser296Arg)
c.700A>C (p.Ser234Arg)
c.538A>C (p.Ser180Arg)
c.847A>C (p.Ser283Arg)
c.682A>C (p.Ser228Arg)
c.931A>C (p.Ser311Arg)
c.745A>C (p.Ser249Arg)
n.862A>C
13g.113118451A>GCA388785847F7c.778A>G (p.Ser260Gly)
c.844A>G (p.Ser282Gly)
c.592A>G (p.Ser198Gly)
n.865A>G
c.637A>G (p.Ser213Gly)
c.886A>G (p.Ser296Gly)
c.700A>G (p.Ser234Gly)
c.538A>G (p.Ser180Gly)
c.847A>G (p.Ser283Gly)
c.682A>G (p.Ser228Gly)
c.931A>G (p.Ser311Gly)
c.745A>G (p.Ser249Gly)
n.862A>G
13g.113118451A>TCA388785848F7c.778A>T (p.Ser260Cys)
c.844A>T (p.Ser282Cys)
c.592A>T (p.Ser198Cys)
n.865A>T
c.637A>T (p.Ser213Cys)
c.886A>T (p.Ser296Cys)
c.700A>T (p.Ser234Cys)
c.538A>T (p.Ser180Cys)
c.847A>T (p.Ser283Cys)
c.682A>T (p.Ser228Cys)
c.931A>T (p.Ser311Cys)
c.745A>T (p.Ser249Cys)
n.862A>T
13g.113118452G>ACA388785849F7c.779G>A (p.Ser260Asn)
c.845G>A (p.Ser282Asn)
c.593G>A (p.Ser198Asn)
n.866G>A
c.638G>A (p.Ser213Asn)
c.887G>A (p.Ser296Asn)
c.701G>A (p.Ser234Asn)
c.539G>A (p.Ser180Asn)
c.848G>A (p.Ser283Asn)
c.683G>A (p.Ser228Asn)
c.932G>A (p.Ser311Asn)
c.746G>A (p.Ser249Asn)
n.863G>A
 gnomAD v4
13g.113118452G>CCA388785850F7c.779G>C (p.Ser260Thr)
c.845G>C (p.Ser282Thr)
c.593G>C (p.Ser198Thr)
n.866G>C
c.638G>C (p.Ser213Thr)
c.887G>C (p.Ser296Thr)
c.701G>C (p.Ser234Thr)
c.539G>C (p.Ser180Thr)
c.848G>C (p.Ser283Thr)
c.683G>C (p.Ser228Thr)
c.932G>C (p.Ser311Thr)
c.746G>C (p.Ser249Thr)
n.863G>C
13g.113118452G>TCA388785851F7c.779G>T (p.Ser260Ile)
c.845G>T (p.Ser282Ile)
c.593G>T (p.Ser198Ile)
n.866G>T
c.638G>T (p.Ser213Ile)
c.887G>T (p.Ser296Ile)
c.701G>T (p.Ser234Ile)
c.539G>T (p.Ser180Ile)
c.848G>T (p.Ser283Ile)
c.683G>T (p.Ser228Ile)
c.932G>T (p.Ser311Ile)
c.746G>T (p.Ser249Ile)
n.863G>T
 gnomAD v4
13g.113118453C>ACA388785853F7c.780C>A (p.Ser260Arg)
c.846C>A (p.Ser282Arg)
c.594C>A (p.Ser198Arg)
n.867C>A
c.639C>A (p.Ser213Arg)
c.888C>A (p.Ser296Arg)
c.702C>A (p.Ser234Arg)
c.540C>A (p.Ser180Arg)
c.849C>A (p.Ser283Arg)
c.684C>A (p.Ser228Arg)
c.933C>A (p.Ser311Arg)
c.747C>A (p.Ser249Arg)
n.864C>A
 dbSNP gnomAD v4
13g.113118453C=CA2120141774F7c.780C= (p.Ser260=)
c.846C= (p.Ser282=)
c.594C= (p.Ser198=)
n.867C=
c.639C= (p.Ser213=)
c.888C= (p.Ser296=)
c.702C= (p.Ser234=)
c.540C= (p.Ser180=)
c.849C= (p.Ser283=)
c.684C= (p.Ser228=)
c.933C= (p.Ser311=)
c.747C= (p.Ser249=)
n.864C=
13g.113118453C>GCA388785852F7c.780C>G (p.Ser260Arg)
c.846C>G (p.Ser282Arg)
c.594C>G (p.Ser198Arg)
n.867C>G
c.639C>G (p.Ser213Arg)
c.888C>G (p.Ser296Arg)
c.702C>G (p.Ser234Arg)
c.540C>G (p.Ser180Arg)
c.849C>G (p.Ser283Arg)
c.684C>G (p.Ser228Arg)
c.933C>G (p.Ser311Arg)
c.747C>G (p.Ser249Arg)
n.864C>G
13g.113118453C>TCA485423828F7c.780C>T (p.Ser260=)
c.846C>T (p.Ser282=)
c.594C>T (p.Ser198=)
n.867C>T
c.639C>T (p.Ser213=)
c.888C>T (p.Ser296=)
c.702C>T (p.Ser234=)
c.540C>T (p.Ser180=)
c.849C>T (p.Ser283=)
c.684C>T (p.Ser228=)
c.933C>T (p.Ser311=)
c.747C>T (p.Ser249=)
n.864C>T
 dbSNP gnomAD v2
13g.113118454C>ACA485423829F7c.781C>A (p.Arg261=)
c.847C>A (p.Arg283=)
c.595C>A (p.Arg199=)
n.868C>A
c.640C>A (p.Arg214=)
c.889C>A (p.Arg297=)
c.703C>A (p.Arg235=)
c.541C>A (p.Arg181=)
c.850C>A (p.Arg284=)
c.685C>A (p.Arg229=)
c.934C>A (p.Arg312=)
c.748C>A (p.Arg250=)
n.865C>A
 gnomAD v4
13g.113118454C=CA2120141780F7c.781C= (p.Arg261=)
c.847C= (p.Arg283=)
c.595C= (p.Arg199=)
n.868C=
c.640C= (p.Arg214=)
c.889C= (p.Arg297=)
c.703C= (p.Arg235=)
c.541C= (p.Arg181=)
c.850C= (p.Arg284=)
c.685C= (p.Arg229=)
c.934C= (p.Arg312=)
c.748C= (p.Arg250=)
n.865C=
13g.113118454C>GCA388785854F7c.781C>G (p.Arg261Gly)
c.847C>G (p.Arg283Gly)
c.595C>G (p.Arg199Gly)
n.868C>G
c.640C>G (p.Arg214Gly)
c.889C>G (p.Arg297Gly)
c.703C>G (p.Arg235Gly)
c.541C>G (p.Arg181Gly)
c.850C>G (p.Arg284Gly)
c.685C>G (p.Arg229Gly)
c.934C>G (p.Arg312Gly)
c.748C>G (p.Arg250Gly)
n.865C>G
13g.113118454C>TCA7060140F7c.781C>T (p.Arg261Trp)
c.847C>T (p.Arg283Trp)
c.595C>T (p.Arg199Trp)
n.868C>T
c.640C>T (p.Arg214Trp)
c.889C>T (p.Arg297Trp)
c.703C>T (p.Arg235Trp)
c.541C>T (p.Arg181Trp)
c.850C>T (p.Arg284Trp)
c.685C>T (p.Arg229Trp)
c.934C>T (p.Arg312Trp)
c.748C>T (p.Arg250Trp)
n.865C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118455G>ACA7060141F7c.782G>A (p.Arg261Gln)
c.848G>A (p.Arg283Gln)
c.596G>A (p.Arg199Gln)
n.869G>A
c.641G>A (p.Arg214Gln)
c.890G>A (p.Arg297Gln)
c.704G>A (p.Arg235Gln)
c.542G>A (p.Arg181Gln)
c.851G>A (p.Arg284Gln)
c.686G>A (p.Arg229Gln)
c.935G>A (p.Arg312Gln)
c.749G>A (p.Arg250Gln)
n.866G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118455G>CCA388785855F7c.782G>C (p.Arg261Pro)
c.848G>C (p.Arg283Pro)
c.596G>C (p.Arg199Pro)
n.869G>C
c.641G>C (p.Arg214Pro)
c.890G>C (p.Arg297Pro)
c.704G>C (p.Arg235Pro)
c.542G>C (p.Arg181Pro)
c.851G>C (p.Arg284Pro)
c.686G>C (p.Arg229Pro)
c.935G>C (p.Arg312Pro)
c.749G>C (p.Arg250Pro)
n.866G>C
13g.113118455G=CA2120141797F7c.782G= (p.Arg261=)
c.848G= (p.Arg283=)
c.596G= (p.Arg199=)
n.869G=
c.641G= (p.Arg214=)
c.890G= (p.Arg297=)
c.704G= (p.Arg235=)
c.542G= (p.Arg181=)
c.851G= (p.Arg284=)
c.686G= (p.Arg229=)
c.935G= (p.Arg312=)
c.749G= (p.Arg250=)
n.866G=
13g.113118455G>TCA7060142F7c.782G>T (p.Arg261Leu)
c.848G>T (p.Arg283Leu)
c.596G>T (p.Arg199Leu)
n.869G>T
c.641G>T (p.Arg214Leu)
c.890G>T (p.Arg297Leu)
c.704G>T (p.Arg235Leu)
c.542G>T (p.Arg181Leu)
c.851G>T (p.Arg284Leu)
c.686G>T (p.Arg229Leu)
c.935G>T (p.Arg312Leu)
c.749G>T (p.Arg250Leu)
n.866G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118455_113118472delinsGGCGGGTGGCGCAGGTCACA2120141792F7c.782_799delinsGGCGGGTGGCGCAGGTCA (p.Arg261=)
c.848_865delinsGGCGGGTGGCGCAGGTCA (p.Arg283=)
c.596_613delinsGGCGGGTGGCGCAGGTCA (p.Arg199=)
n.869_886delinsGGCGGGTGGCGCAGGTCA
c.641_658delinsGGCGGGTGGCGCAGGTCA (p.Arg214=)
c.890_907delinsGGCGGGTGGCGCAGGTCA (p.Arg297=)
c.704_721delinsGGCGGGTGGCGCAGGTCA (p.Arg235=)
c.542_559delinsGGCGGGTGGCGCAGGTCA (p.Arg181=)
c.851_868delinsGGCGGGTGGCGCAGGTCA (p.Arg284=)
c.686_703delinsGGCGGGTGGCGCAGGTCA (p.Arg229=)
c.935_952delinsGGCGGGTGGCGCAGGTCA (p.Arg312=)
c.749_766delinsGGCGGGTGGCGCAGGTCA (p.Arg250=)
n.866_883delinsGGCGGGTGGCGCAGGTCA
13g.113118456G>ACA7060143F7c.783G>A (p.Arg261=)
c.849G>A (p.Arg283=)
c.597G>A (p.Arg199=)
n.870G>A
c.642G>A (p.Arg214=)
c.891G>A (p.Arg297=)
c.705G>A (p.Arg235=)
c.543G>A (p.Arg181=)
c.852G>A (p.Arg284=)
c.687G>A (p.Arg229=)
c.936G>A (p.Arg312=)
c.750G>A (p.Arg250=)
n.867G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118456G>CCA485423831F7c.783G>C (p.Arg261=)
c.849G>C (p.Arg283=)
c.597G>C (p.Arg199=)
n.870G>C
c.642G>C (p.Arg214=)
c.891G>C (p.Arg297=)
c.705G>C (p.Arg235=)
c.543G>C (p.Arg181=)
c.852G>C (p.Arg284=)
c.687G>C (p.Arg229=)
c.936G>C (p.Arg312=)
c.750G>C (p.Arg250=)
n.867G>C
13g.113118456G=CA2120141811F7c.783G= (p.Arg261=)
c.849G= (p.Arg283=)
c.597G= (p.Arg199=)
n.870G=
c.642G= (p.Arg214=)
c.891G= (p.Arg297=)
c.705G= (p.Arg235=)
c.543G= (p.Arg181=)
c.852G= (p.Arg284=)
c.687G= (p.Arg229=)
c.936G= (p.Arg312=)
c.750G= (p.Arg250=)
n.867G=
13g.113118456G>TCA485423830F7c.783G>T (p.Arg261=)
c.849G>T (p.Arg283=)
c.597G>T (p.Arg199=)
n.870G>T
c.642G>T (p.Arg214=)
c.891G>T (p.Arg297=)
c.705G>T (p.Arg235=)
c.543G>T (p.Arg181=)
c.852G>T (p.Arg284=)
c.687G>T (p.Arg229=)
c.936G>T (p.Arg312=)
c.750G>T (p.Arg250=)
n.867G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113118456_113118472delCA121854F7c.783_799del (p.Arg262HisfsTer27)
c.849_865del (p.Arg284HisfsTer27)
c.597_613del (p.Arg200HisfsTer27)
n.870_886del
c.642_658del (p.Arg215HisfsTer27)
c.891_907del (p.Arg298HisfsTer27)
c.705_721del (p.Arg236HisfsTer27)
c.543_559del (p.Arg182HisfsTer27)
c.852_868del (p.Arg285HisfsTer27)
c.687_703del (p.Arg230HisfsTer27)
c.936_952del (p.Arg313HisfsTer27)
c.750_766del (p.Arg251HisfsTer27)
n.867_883del
 ClinVar dbSNP
13g.113118457C>ACA485423832F7c.784C>A (p.Arg262=)
c.850C>A (p.Arg284=)
c.598C>A (p.Arg200=)
n.871C>A
c.643C>A (p.Arg215=)
c.892C>A (p.Arg298=)
c.706C>A (p.Arg236=)
c.544C>A (p.Arg182=)
c.853C>A (p.Arg285=)
c.688C>A (p.Arg230=)
c.937C>A (p.Arg313=)
c.751C>A (p.Arg251=)
n.868C>A
 gnomAD v4
13g.113118457C=CA2120141818F7c.784C= (p.Arg262=)
c.850C= (p.Arg284=)
c.598C= (p.Arg200=)
n.871C=
c.643C= (p.Arg215=)
c.892C= (p.Arg298=)
c.706C= (p.Arg236=)
c.544C= (p.Arg182=)
c.853C= (p.Arg285=)
c.688C= (p.Arg230=)
c.937C= (p.Arg313=)
c.751C= (p.Arg251=)
n.868C=
13g.113118457C>GCA388785856F7c.784C>G (p.Arg262Gly)
c.850C>G (p.Arg284Gly)
c.598C>G (p.Arg200Gly)
n.871C>G
c.643C>G (p.Arg215Gly)
c.892C>G (p.Arg298Gly)
c.706C>G (p.Arg236Gly)
c.544C>G (p.Arg182Gly)
c.853C>G (p.Arg285Gly)
c.688C>G (p.Arg230Gly)
c.937C>G (p.Arg313Gly)
c.751C>G (p.Arg251Gly)
n.868C>G
13g.113118457C>TCA7060144F7c.784C>T (p.Arg262Trp)
c.850C>T (p.Arg284Trp)
c.598C>T (p.Arg200Trp)
n.871C>T
c.643C>T (p.Arg215Trp)
c.892C>T (p.Arg298Trp)
c.706C>T (p.Arg236Trp)
c.544C>T (p.Arg182Trp)
c.853C>T (p.Arg285Trp)
c.688C>T (p.Arg230Trp)
c.937C>T (p.Arg313Trp)
c.751C>T (p.Arg251Trp)
n.868C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118458G>ACA7060145F7c.785G>A (p.Arg262Gln)
c.851G>A (p.Arg284Gln)
c.599G>A (p.Arg200Gln)
n.872G>A
c.644G>A (p.Arg215Gln)
c.893G>A (p.Arg298Gln)
c.707G>A (p.Arg236Gln)
c.545G>A (p.Arg182Gln)
c.854G>A (p.Arg285Gln)
c.689G>A (p.Arg230Gln)
c.938G>A (p.Arg313Gln)
c.752G>A (p.Arg251Gln)
n.869G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118458G>CCA388785857F7c.785G>C (p.Arg262Pro)
c.851G>C (p.Arg284Pro)
c.599G>C (p.Arg200Pro)
n.872G>C
c.644G>C (p.Arg215Pro)
c.893G>C (p.Arg298Pro)
c.707G>C (p.Arg236Pro)
c.545G>C (p.Arg182Pro)
c.854G>C (p.Arg285Pro)
c.689G>C (p.Arg230Pro)
c.938G>C (p.Arg313Pro)
c.752G>C (p.Arg251Pro)
n.869G>C
 gnomAD v4
13g.113118458G=CA2120141824F7c.785G= (p.Arg262=)
c.851G= (p.Arg284=)
c.599G= (p.Arg200=)
n.872G=
c.644G= (p.Arg215=)
c.893G= (p.Arg298=)
c.707G= (p.Arg236=)
c.545G= (p.Arg182=)
c.854G= (p.Arg285=)
c.689G= (p.Arg230=)
c.938G= (p.Arg313=)
c.752G= (p.Arg251=)
n.869G=
13g.113118458G>TCA388785858F7c.785G>T (p.Arg262Leu)
c.851G>T (p.Arg284Leu)
c.599G>T (p.Arg200Leu)
n.872G>T
c.644G>T (p.Arg215Leu)
c.893G>T (p.Arg298Leu)
c.707G>T (p.Arg236Leu)
c.545G>T (p.Arg182Leu)
c.854G>T (p.Arg285Leu)
c.689G>T (p.Arg230Leu)
c.938G>T (p.Arg313Leu)
c.752G>T (p.Arg251Leu)
n.869G>T
 gnomAD v4 COSMIC
13g.113118459G>ACA485423833F7c.786G>A (p.Arg262=)
c.852G>A (p.Arg284=)
c.600G>A (p.Arg200=)
n.873G>A
c.645G>A (p.Arg215=)
c.894G>A (p.Arg298=)
c.708G>A (p.Arg236=)
c.546G>A (p.Arg182=)
c.855G>A (p.Arg285=)
c.690G>A (p.Arg230=)
c.939G>A (p.Arg313=)
c.753G>A (p.Arg251=)
n.870G>A
 dbSNP gnomAD v2 gnomAD v4
13g.113118459G>CCA485423834F7c.786G>C (p.Arg262=)
c.852G>C (p.Arg284=)
c.600G>C (p.Arg200=)
n.873G>C
c.645G>C (p.Arg215=)
c.894G>C (p.Arg298=)
c.708G>C (p.Arg236=)
c.546G>C (p.Arg182=)
c.855G>C (p.Arg285=)
c.690G>C (p.Arg230=)
c.939G>C (p.Arg313=)
c.753G>C (p.Arg251=)
n.870G>C
13g.113118459G=CA2120141834F7c.786G= (p.Arg262=)
c.852G= (p.Arg284=)
c.600G= (p.Arg200=)
n.873G=
c.645G= (p.Arg215=)
c.894G= (p.Arg298=)
c.708G= (p.Arg236=)
c.546G= (p.Arg182=)
c.855G= (p.Arg285=)
c.690G= (p.Arg230=)
c.939G= (p.Arg313=)
c.753G= (p.Arg251=)
n.870G=
13g.113118459G>TCA485423835F7c.786G>T (p.Arg262=)
c.852G>T (p.Arg284=)
c.600G>T (p.Arg200=)
n.873G>T
c.645G>T (p.Arg215=)
c.894G>T (p.Arg298=)
c.708G>T (p.Arg236=)
c.546G>T (p.Arg182=)
c.855G>T (p.Arg285=)
c.690G>T (p.Arg230=)
c.939G>T (p.Arg313=)
c.753G>T (p.Arg251=)
n.870G>T
 gnomAD v4
13g.113118460G>ACA388785861F7c.787G>A (p.Val263Met)
c.853G>A (p.Val285Met)
c.601G>A (p.Val201Met)
n.874G>A
c.646G>A (p.Val216Met)
c.895G>A (p.Val299Met)
c.709G>A (p.Val237Met)
c.547G>A (p.Val183Met)
c.856G>A (p.Val286Met)
c.691G>A (p.Val231Met)
c.940G>A (p.Val314Met)
c.754G>A (p.Val252Met)
n.871G>A
 gnomAD v4
13g.113118460G>CCA388785860F7c.787G>C (p.Val263Leu)
c.853G>C (p.Val285Leu)
c.601G>C (p.Val201Leu)
n.874G>C
c.646G>C (p.Val216Leu)
c.895G>C (p.Val299Leu)
c.709G>C (p.Val237Leu)
c.547G>C (p.Val183Leu)
c.856G>C (p.Val286Leu)
c.691G>C (p.Val231Leu)
c.940G>C (p.Val314Leu)
c.754G>C (p.Val252Leu)
n.871G>C
13g.113118460G>TCA388785859F7c.787G>T (p.Val263Leu)
c.853G>T (p.Val285Leu)
c.601G>T (p.Val201Leu)
n.874G>T
c.646G>T (p.Val216Leu)
c.895G>T (p.Val299Leu)
c.709G>T (p.Val237Leu)
c.547G>T (p.Val183Leu)
c.856G>T (p.Val286Leu)
c.691G>T (p.Val231Leu)
c.940G>T (p.Val314Leu)
c.754G>T (p.Val252Leu)
n.871G>T
 gnomAD v4
13g.113118461T>ACA388785862F7c.788T>A (p.Val263Glu)
c.854T>A (p.Val285Glu)
c.602T>A (p.Val201Glu)
n.875T>A
c.647T>A (p.Val216Glu)
c.896T>A (p.Val299Glu)
c.710T>A (p.Val237Glu)
c.548T>A (p.Val183Glu)
c.857T>A (p.Val286Glu)
c.692T>A (p.Val231Glu)
c.941T>A (p.Val314Glu)
c.755T>A (p.Val252Glu)
n.872T>A
13g.113118461T>CCA7060147F7c.788T>C (p.Val263Ala)
c.854T>C (p.Val285Ala)
c.602T>C (p.Val201Ala)
n.875T>C
c.647T>C (p.Val216Ala)
c.896T>C (p.Val299Ala)
c.710T>C (p.Val237Ala)
c.548T>C (p.Val183Ala)
c.857T>C (p.Val286Ala)
c.692T>C (p.Val231Ala)
c.941T>C (p.Val314Ala)
c.755T>C (p.Val252Ala)
n.872T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118461T>GCA7060146F7c.788T>G (p.Val263Gly)
c.854T>G (p.Val285Gly)
c.602T>G (p.Val201Gly)
n.875T>G
c.647T>G (p.Val216Gly)
c.896T>G (p.Val299Gly)
c.710T>G (p.Val237Gly)
c.548T>G (p.Val183Gly)
c.857T>G (p.Val286Gly)
c.692T>G (p.Val231Gly)
c.941T>G (p.Val314Gly)
c.755T>G (p.Val252Gly)
n.872T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118461T=CA2120141841F7c.788T= (p.Val263=)
c.854T= (p.Val285=)
c.602T= (p.Val201=)
n.875T=
c.647T= (p.Val216=)
c.896T= (p.Val299=)
c.710T= (p.Val237=)
c.548T= (p.Val183=)
c.857T= (p.Val286=)
c.692T= (p.Val231=)
c.941T= (p.Val314=)
c.755T= (p.Val252=)
n.872T=
13g.113118462G>ACA485423836F7c.789G>A (p.Val263=)
c.855G>A (p.Val285=)
c.603G>A (p.Val201=)
n.876G>A
c.648G>A (p.Val216=)
c.897G>A (p.Val299=)
c.711G>A (p.Val237=)
c.549G>A (p.Val183=)
c.858G>A (p.Val286=)
c.693G>A (p.Val231=)
c.942G>A (p.Val314=)
c.756G>A (p.Val252=)
n.873G>A
13g.113118462G>CCA485423837F7c.789G>C (p.Val263=)
c.855G>C (p.Val285=)
c.603G>C (p.Val201=)
n.876G>C
c.648G>C (p.Val216=)
c.897G>C (p.Val299=)
c.711G>C (p.Val237=)
c.549G>C (p.Val183=)
c.858G>C (p.Val286=)
c.693G>C (p.Val231=)
c.942G>C (p.Val314=)
c.756G>C (p.Val252=)
n.873G>C
13g.113118462G>TCA485423838F7c.789G>T (p.Val263=)
c.855G>T (p.Val285=)
c.603G>T (p.Val201=)
n.876G>T
c.648G>T (p.Val216=)
c.897G>T (p.Val299=)
c.711G>T (p.Val237=)
c.549G>T (p.Val183=)
c.858G>T (p.Val286=)
c.693G>T (p.Val231=)
c.942G>T (p.Val314=)
c.756G>T (p.Val252=)
n.873G>T
13g.113118463G>ACA388785863F7c.790G>A (p.Ala264Thr)
c.856G>A (p.Ala286Thr)
c.604G>A (p.Ala202Thr)
n.877G>A
c.649G>A (p.Ala217Thr)
c.898G>A (p.Ala300Thr)
c.712G>A (p.Ala238Thr)
c.550G>A (p.Ala184Thr)
c.859G>A (p.Ala287Thr)
c.694G>A (p.Ala232Thr)
c.943G>A (p.Ala315Thr)
c.757G>A (p.Ala253Thr)
n.874G>A
 gnomAD v4
13g.113118463G>CCA388785864F7c.790G>C (p.Ala264Pro)
c.856G>C (p.Ala286Pro)
c.604G>C (p.Ala202Pro)
n.877G>C
c.649G>C (p.Ala217Pro)
c.898G>C (p.Ala300Pro)
c.712G>C (p.Ala238Pro)
c.550G>C (p.Ala184Pro)
c.859G>C (p.Ala287Pro)
c.694G>C (p.Ala232Pro)
c.943G>C (p.Ala315Pro)
c.757G>C (p.Ala253Pro)
n.874G>C
13g.113118463G=CA2120141847F7c.790G= (p.Ala264=)
c.856G= (p.Ala286=)
c.604G= (p.Ala202=)
n.877G=
c.649G= (p.Ala217=)
c.898G= (p.Ala300=)
c.712G= (p.Ala238=)
c.550G= (p.Ala184=)
c.859G= (p.Ala287=)
c.694G= (p.Ala232=)
c.943G= (p.Ala315=)
c.757G= (p.Ala253=)
n.874G=
13g.113118463G>TCA7060148F7c.790G>T (p.Ala264Ser)
c.856G>T (p.Ala286Ser)
c.604G>T (p.Ala202Ser)
n.877G>T
c.649G>T (p.Ala217Ser)
c.898G>T (p.Ala300Ser)
c.712G>T (p.Ala238Ser)
c.550G>T (p.Ala184Ser)
c.859G>T (p.Ala287Ser)
c.694G>T (p.Ala232Ser)
c.943G>T (p.Ala315Ser)
c.757G>T (p.Ala253Ser)
n.874G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118464C>ACA388785865F7c.791C>A (p.Ala264Glu)
c.857C>A (p.Ala286Glu)
c.605C>A (p.Ala202Glu)
n.878C>A
c.650C>A (p.Ala217Glu)
c.899C>A (p.Ala300Glu)
c.713C>A (p.Ala238Glu)
c.551C>A (p.Ala184Glu)
c.860C>A (p.Ala287Glu)
c.695C>A (p.Ala232Glu)
c.944C>A (p.Ala315Glu)
c.758C>A (p.Ala253Glu)
n.875C>A
13g.113118464C=CA2120141858F7c.791C= (p.Ala264=)
c.857C= (p.Ala286=)
c.605C= (p.Ala202=)
n.878C=
c.650C= (p.Ala217=)
c.899C= (p.Ala300=)
c.713C= (p.Ala238=)
c.551C= (p.Ala184=)
c.860C= (p.Ala287=)
c.695C= (p.Ala232=)
c.944C= (p.Ala315=)
c.758C= (p.Ala253=)
n.875C=
13g.113118464C>GCA388785866F7c.791C>G (p.Ala264Gly)
c.857C>G (p.Ala286Gly)
c.605C>G (p.Ala202Gly)
n.878C>G
c.650C>G (p.Ala217Gly)
c.899C>G (p.Ala300Gly)
c.713C>G (p.Ala238Gly)
c.551C>G (p.Ala184Gly)
c.860C>G (p.Ala287Gly)
c.695C>G (p.Ala232Gly)
c.944C>G (p.Ala315Gly)
c.758C>G (p.Ala253Gly)
n.875C>G
13g.113118464C>TCA7060149F7c.791C>T (p.Ala264Val)
c.857C>T (p.Ala286Val)
c.605C>T (p.Ala202Val)
n.878C>T
c.650C>T (p.Ala217Val)
c.899C>T (p.Ala300Val)
c.713C>T (p.Ala238Val)
c.551C>T (p.Ala184Val)
c.860C>T (p.Ala287Val)
c.695C>T (p.Ala232Val)
c.944C>T (p.Ala315Val)
c.758C>T (p.Ala253Val)
n.875C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118465G>ACA7060150F7c.792G>A (p.Ala264=)
c.858G>A (p.Ala286=)
c.606G>A (p.Ala202=)
n.879G>A
c.651G>A (p.Ala217=)
c.900G>A (p.Ala300=)
c.714G>A (p.Ala238=)
c.552G>A (p.Ala184=)
c.861G>A (p.Ala287=)
c.696G>A (p.Ala232=)
c.945G>A (p.Ala315=)
c.759G>A (p.Ala253=)
n.876G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113118465G>CCA485423840F7c.792G>C (p.Ala264=)
c.858G>C (p.Ala286=)
c.606G>C (p.Ala202=)
n.879G>C
c.651G>C (p.Ala217=)
c.900G>C (p.Ala300=)
c.714G>C (p.Ala238=)
c.552G>C (p.Ala184=)
c.861G>C (p.Ala287=)
c.696G>C (p.Ala232=)
c.945G>C (p.Ala315=)
c.759G>C (p.Ala253=)
n.876G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113118465G=CA2120141869F7c.792G= (p.Ala264=)
c.858G= (p.Ala286=)
c.606G= (p.Ala202=)
n.879G=
c.651G= (p.Ala217=)
c.900G= (p.Ala300=)
c.714G= (p.Ala238=)
c.552G= (p.Ala184=)
c.861G= (p.Ala287=)
c.696G= (p.Ala232=)
c.945G= (p.Ala315=)
c.759G= (p.Ala253=)
n.876G=
13g.113118465G>TCA485423839F7c.792G>T (p.Ala264=)
c.858G>T (p.Ala286=)
c.606G>T (p.Ala202=)
n.879G>T
c.651G>T (p.Ala217=)
c.900G>T (p.Ala300=)
c.714G>T (p.Ala238=)
c.552G>T (p.Ala184=)
c.861G>T (p.Ala287=)
c.696G>T (p.Ala232=)
c.945G>T (p.Ala315=)
c.759G>T (p.Ala253=)
n.876G>T
 dbSNP gnomAD v4
13g.113118466C>ACA388785867F7c.793C>A (p.Gln265Lys)
c.859C>A (p.Gln287Lys)
c.607C>A (p.Gln203Lys)
n.880C>A
c.652C>A (p.Gln218Lys)
c.901C>A (p.Gln301Lys)
c.715C>A (p.Gln239Lys)
c.553C>A (p.Gln185Lys)
c.862C>A (p.Gln288Lys)
c.697C>A (p.Gln233Lys)
c.946C>A (p.Gln316Lys)
c.760C>A (p.Gln254Lys)
n.877C>A
 gnomAD v4
13g.113118466C>GCA388785868F7c.793C>G (p.Gln265Glu)
c.859C>G (p.Gln287Glu)
c.607C>G (p.Gln203Glu)
n.880C>G
c.652C>G (p.Gln218Glu)
c.901C>G (p.Gln301Glu)
c.715C>G (p.Gln239Glu)
c.553C>G (p.Gln185Glu)
c.862C>G (p.Gln288Glu)
c.697C>G (p.Gln233Glu)
c.946C>G (p.Gln316Glu)
c.760C>G (p.Gln254Glu)
n.877C>G
13g.113118466C>TCA388785869F7c.793C>T (p.Gln265Ter)
c.859C>T (p.Gln287Ter)
c.607C>T (p.Gln203Ter)
n.880C>T
c.652C>T (p.Gln218Ter)
c.901C>T (p.Gln301Ter)
c.715C>T (p.Gln239Ter)
c.553C>T (p.Gln185Ter)
c.862C>T (p.Gln288Ter)
c.697C>T (p.Gln233Ter)
c.946C>T (p.Gln316Ter)
c.760C>T (p.Gln254Ter)
n.877C>T
13g.113118467A=CA2120141879F7c.794A= (p.Gln265=)
c.860A= (p.Gln287=)
c.608A= (p.Gln203=)
n.881A=
c.653A= (p.Gln218=)
c.902A= (p.Gln301=)
c.716A= (p.Gln239=)
c.554A= (p.Gln185=)
c.863A= (p.Gln288=)
c.698A= (p.Gln233=)
c.947A= (p.Gln316=)
c.761A= (p.Gln254=)
n.878A=
13g.113118467A>CCA388785872F7c.794A>C (p.Gln265Pro)
c.860A>C (p.Gln287Pro)
c.608A>C (p.Gln203Pro)
n.881A>C
c.653A>C (p.Gln218Pro)
c.902A>C (p.Gln301Pro)
c.716A>C (p.Gln239Pro)
c.554A>C (p.Gln185Pro)
c.863A>C (p.Gln288Pro)
c.698A>C (p.Gln233Pro)
c.947A>C (p.Gln316Pro)
c.761A>C (p.Gln254Pro)
n.878A>C
13g.113118467A>GCA388785870F7c.794A>G (p.Gln265Arg)
c.860A>G (p.Gln287Arg)
c.608A>G (p.Gln203Arg)
n.881A>G
c.653A>G (p.Gln218Arg)
c.902A>G (p.Gln301Arg)
c.716A>G (p.Gln239Arg)
c.554A>G (p.Gln185Arg)
c.863A>G (p.Gln288Arg)
c.698A>G (p.Gln233Arg)
c.947A>G (p.Gln316Arg)
c.761A>G (p.Gln254Arg)
n.878A>G
13g.113118467A>TCA388785871F7c.794A>T (p.Gln265Leu)
c.860A>T (p.Gln287Leu)
c.608A>T (p.Gln203Leu)
n.881A>T
c.653A>T (p.Gln218Leu)
c.902A>T (p.Gln301Leu)
c.716A>T (p.Gln239Leu)
c.554A>T (p.Gln185Leu)
c.863A>T (p.Gln288Leu)
c.698A>T (p.Gln233Leu)
c.947A>T (p.Gln316Leu)
c.761A>T (p.Gln254Leu)
n.878A>T
 dbSNP gnomAD v4
13g.113118468G>ACA485423841F7c.795G>A (p.Gln265=)
c.861G>A (p.Gln287=)
c.609G>A (p.Gln203=)
n.882G>A
c.654G>A (p.Gln218=)
c.903G>A (p.Gln301=)
c.717G>A (p.Gln239=)
c.555G>A (p.Gln185=)
c.864G>A (p.Gln288=)
c.699G>A (p.Gln233=)
c.948G>A (p.Gln316=)
c.762G>A (p.Gln254=)
n.879G>A
13g.113118468G>CCA388785873F7c.795G>C (p.Gln265His)
c.861G>C (p.Gln287His)
c.609G>C (p.Gln203His)
n.882G>C
c.654G>C (p.Gln218His)
c.903G>C (p.Gln301His)
c.717G>C (p.Gln239His)
c.555G>C (p.Gln185His)
c.864G>C (p.Gln288His)
c.699G>C (p.Gln233His)
c.948G>C (p.Gln316His)
c.762G>C (p.Gln254His)
n.879G>C
13g.113118468G=CA2120141884F7c.795G= (p.Gln265=)
c.861G= (p.Gln287=)
c.609G= (p.Gln203=)
n.882G=
c.654G= (p.Gln218=)
c.903G= (p.Gln301=)
c.717G= (p.Gln239=)
c.555G= (p.Gln185=)
c.864G= (p.Gln288=)
c.699G= (p.Gln233=)
c.948G= (p.Gln316=)
c.762G= (p.Gln254=)
n.879G=
13g.113118468G>TCA388785874F7c.795G>T (p.Gln265His)
c.861G>T (p.Gln287His)
c.609G>T (p.Gln203His)
n.882G>T
c.654G>T (p.Gln218His)
c.903G>T (p.Gln301His)
c.717G>T (p.Gln239His)
c.555G>T (p.Gln185His)
c.864G>T (p.Gln288His)
c.699G>T (p.Gln233His)
c.948G>T (p.Gln316His)
c.762G>T (p.Gln254His)
n.879G>T
 dbSNP gnomAD v3 gnomAD v4
13g.113118469G>ACA388785875F7c.796G>A (p.Val266Ile)
c.862G>A (p.Val288Ile)
c.610G>A (p.Val204Ile)
n.883G>A
c.655G>A (p.Val219Ile)
c.904G>A (p.Val302Ile)
c.718G>A (p.Val240Ile)
c.556G>A (p.Val186Ile)
c.865G>A (p.Val289Ile)
c.700G>A (p.Val234Ile)
c.949G>A (p.Val317Ile)
c.763G>A (p.Val255Ile)
n.880G>A
13g.113118469G>CCA388785876F7c.796G>C (p.Val266Leu)
c.862G>C (p.Val288Leu)
c.610G>C (p.Val204Leu)
n.883G>C
c.655G>C (p.Val219Leu)
c.904G>C (p.Val302Leu)
c.718G>C (p.Val240Leu)
c.556G>C (p.Val186Leu)
c.865G>C (p.Val289Leu)
c.700G>C (p.Val234Leu)
c.949G>C (p.Val317Leu)
c.763G>C (p.Val255Leu)
n.880G>C
13g.113118469G>TCA388785877F7c.796G>T (p.Val266Phe)
c.862G>T (p.Val288Phe)
c.610G>T (p.Val204Phe)
n.883G>T
c.655G>T (p.Val219Phe)
c.904G>T (p.Val302Phe)
c.718G>T (p.Val240Phe)
c.556G>T (p.Val186Phe)
c.865G>T (p.Val289Phe)
c.700G>T (p.Val234Phe)
c.949G>T (p.Val317Phe)
c.763G>T (p.Val255Phe)
n.880G>T
13g.113118469_113118471delCA2623808935F7c.796_798del (p.Val266del)
c.862_864del (p.Val288del)
c.610_612del (p.Val204del)
n.883_885del
c.655_657del (p.Val219del)
c.904_906del (p.Val302del)
c.718_720del (p.Val240del)
c.556_558del (p.Val186del)
c.865_867del (p.Val289del)
c.700_702del (p.Val234del)
c.949_951del (p.Val317del)
c.763_765del (p.Val255del)
n.880_882del
 gnomAD v4
13g.113118469_113118472delinsGTCACA2120141891F7c.796_799delinsGTCA (p.Val266=)
c.862_865delinsGTCA (p.Val288=)
c.610_613delinsGTCA (p.Val204=)
n.883_886delinsGTCA
c.655_658delinsGTCA (p.Val219=)
c.904_907delinsGTCA (p.Val302=)
c.718_721delinsGTCA (p.Val240=)
c.556_559delinsGTCA (p.Val186=)
c.865_868delinsGTCA (p.Val289=)
c.700_703delinsGTCA (p.Val234=)
c.949_952delinsGTCA (p.Val317=)
c.763_766delinsGTCA (p.Val255=)
n.880_883delinsGTCA
13g.113118470T>ACA388785878F7c.797T>A (p.Val266Asp)
c.863T>A (p.Val288Asp)
c.611T>A (p.Val204Asp)
n.884T>A
c.656T>A (p.Val219Asp)
c.905T>A (p.Val302Asp)
c.719T>A (p.Val240Asp)
c.557T>A (p.Val186Asp)
c.866T>A (p.Val289Asp)
c.701T>A (p.Val234Asp)
c.950T>A (p.Val317Asp)
c.764T>A (p.Val255Asp)
n.881T>A
13g.113118470T>CCA388785879F7c.797T>C (p.Val266Ala)
c.863T>C (p.Val288Ala)
c.611T>C (p.Val204Ala)
n.884T>C
c.656T>C (p.Val219Ala)
c.905T>C (p.Val302Ala)
c.719T>C (p.Val240Ala)
c.557T>C (p.Val186Ala)
c.866T>C (p.Val289Ala)
c.701T>C (p.Val234Ala)
c.950T>C (p.Val317Ala)
c.764T>C (p.Val255Ala)
n.881T>C
13g.113118470T>GCA388785880F7c.797T>G (p.Val266Gly)
c.863T>G (p.Val288Gly)
c.611T>G (p.Val204Gly)
n.884T>G
c.656T>G (p.Val219Gly)
c.905T>G (p.Val302Gly)
c.719T>G (p.Val240Gly)
c.557T>G (p.Val186Gly)
c.866T>G (p.Val289Gly)
c.701T>G (p.Val234Gly)
c.950T>G (p.Val317Gly)
c.764T>G (p.Val255Gly)
n.881T>G
 dbSNP gnomAD v2
13g.113118470T=CA2120141892F7c.797T= (p.Val266=)
c.863T= (p.Val288=)
c.611T= (p.Val204=)
n.884T=
c.656T= (p.Val219=)
c.905T= (p.Val302=)
c.719T= (p.Val240=)
c.557T= (p.Val186=)
c.866T= (p.Val289=)
c.701T= (p.Val234=)
c.950T= (p.Val317=)
c.764T= (p.Val255=)
n.881T=
13g.113118475_113118477delCA7060151F7c.802_804del (p.Ile268del)
c.868_870del (p.Ile290del)
c.616_618del (p.Ile206del)
n.889_891del
c.661_663del (p.Ile221del)
c.910_912del (p.Ile304del)
c.724_726del (p.Ile242del)
c.562_564del (p.Ile188del)
c.871_873del (p.Ile291del)
c.706_708del (p.Ile236del)
c.955_957del (p.Ile319del)
c.769_771del (p.Ile257del)
n.886_888del
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118471C>ACA485423842F7c.798C>A (p.Val266=)
c.864C>A (p.Val288=)
c.612C>A (p.Val204=)
n.885C>A
c.657C>A (p.Val219=)
c.906C>A (p.Val302=)
c.720C>A (p.Val240=)
c.558C>A (p.Val186=)
c.867C>A (p.Val289=)
c.702C>A (p.Val234=)
c.951C>A (p.Val317=)
c.765C>A (p.Val255=)
n.882C>A
13g.113118471C>GCA485423843F7c.798C>G (p.Val266=)
c.864C>G (p.Val288=)
c.612C>G (p.Val204=)
n.885C>G
c.657C>G (p.Val219=)
c.906C>G (p.Val302=)
c.720C>G (p.Val240=)
c.558C>G (p.Val186=)
c.867C>G (p.Val289=)
c.702C>G (p.Val234=)
c.951C>G (p.Val317=)
c.765C>G (p.Val255=)
n.882C>G
13g.113118471C>TCA485423844F7c.798C>T (p.Val266=)
c.864C>T (p.Val288=)
c.612C>T (p.Val204=)
n.885C>T
c.657C>T (p.Val219=)
c.906C>T (p.Val302=)
c.720C>T (p.Val240=)
c.558C>T (p.Val186=)
c.867C>T (p.Val289=)
c.702C>T (p.Val234=)
c.951C>T (p.Val317=)
c.765C>T (p.Val255=)
n.882C>T
13g.113118472A=CA2120141897F7c.799A= (p.Ile267=)
c.865A= (p.Ile289=)
c.613A= (p.Ile205=)
n.886A=
c.658A= (p.Ile220=)
c.907A= (p.Ile303=)
c.721A= (p.Ile241=)
c.559A= (p.Ile187=)
c.868A= (p.Ile290=)
c.703A= (p.Ile235=)
c.952A= (p.Ile318=)
c.766A= (p.Ile256=)
n.883A=
13g.113118472A>CCA388785881F7c.799A>C (p.Ile267Leu)
c.865A>C (p.Ile289Leu)
c.613A>C (p.Ile205Leu)
n.886A>C
c.658A>C (p.Ile220Leu)
c.907A>C (p.Ile303Leu)
c.721A>C (p.Ile241Leu)
c.559A>C (p.Ile187Leu)
c.868A>C (p.Ile290Leu)
c.703A>C (p.Ile235Leu)
c.952A>C (p.Ile318Leu)
c.766A>C (p.Ile256Leu)
n.883A>C
13g.113118472A>GCA388785882F7c.799A>G (p.Ile267Val)
c.865A>G (p.Ile289Val)
c.613A>G (p.Ile205Val)
n.886A>G
c.658A>G (p.Ile220Val)
c.907A>G (p.Ile303Val)
c.721A>G (p.Ile241Val)
c.559A>G (p.Ile187Val)
c.868A>G (p.Ile290Val)
c.703A>G (p.Ile235Val)
c.952A>G (p.Ile318Val)
c.766A>G (p.Ile256Val)
n.883A>G
 dbSNP
13g.113118472A>TCA388785883F7c.799A>T (p.Ile267Phe)
c.865A>T (p.Ile289Phe)
c.613A>T (p.Ile205Phe)
n.886A>T
c.658A>T (p.Ile220Phe)
c.907A>T (p.Ile303Phe)
c.721A>T (p.Ile241Phe)
c.559A>T (p.Ile187Phe)
c.868A>T (p.Ile290Phe)
c.703A>T (p.Ile235Phe)
c.952A>T (p.Ile318Phe)
c.766A>T (p.Ile256Phe)
n.883A>T
13g.113118473T>ACA388785885F7c.800T>A (p.Ile267Asn)
c.866T>A (p.Ile289Asn)
c.614T>A (p.Ile205Asn)
n.887T>A
c.659T>A (p.Ile220Asn)
c.908T>A (p.Ile303Asn)
c.722T>A (p.Ile241Asn)
c.560T>A (p.Ile187Asn)
c.869T>A (p.Ile290Asn)
c.704T>A (p.Ile235Asn)
c.953T>A (p.Ile318Asn)
c.767T>A (p.Ile256Asn)
n.884T>A
13g.113118473T>CCA388785886F7c.800T>C (p.Ile267Thr)
c.866T>C (p.Ile289Thr)
c.614T>C (p.Ile205Thr)
n.887T>C
c.659T>C (p.Ile220Thr)
c.908T>C (p.Ile303Thr)
c.722T>C (p.Ile241Thr)
c.560T>C (p.Ile187Thr)
c.869T>C (p.Ile290Thr)
c.704T>C (p.Ile235Thr)
c.953T>C (p.Ile318Thr)
c.767T>C (p.Ile256Thr)
n.884T>C
13g.113118473T>GCA388785884F7c.800T>G (p.Ile267Ser)
c.866T>G (p.Ile289Ser)
c.614T>G (p.Ile205Ser)
n.887T>G
c.659T>G (p.Ile220Ser)
c.908T>G (p.Ile303Ser)
c.722T>G (p.Ile241Ser)
c.560T>G (p.Ile187Ser)
c.869T>G (p.Ile290Ser)
c.704T>G (p.Ile235Ser)
c.953T>G (p.Ile318Ser)
c.767T>G (p.Ile256Ser)
n.884T>G
13g.113118474C>ACA485423845F7c.801C>A (p.Ile267=)
c.867C>A (p.Ile289=)
c.615C>A (p.Ile205=)
n.888C>A
c.660C>A (p.Ile220=)
c.909C>A (p.Ile303=)
c.723C>A (p.Ile241=)
c.561C>A (p.Ile187=)
c.870C>A (p.Ile290=)
c.705C>A (p.Ile235=)
c.954C>A (p.Ile318=)
c.768C>A (p.Ile256=)
n.885C>A
13g.113118474C>GCA388785887F7c.801C>G (p.Ile267Met)
c.867C>G (p.Ile289Met)
c.615C>G (p.Ile205Met)
n.888C>G
c.660C>G (p.Ile220Met)
c.909C>G (p.Ile303Met)
c.723C>G (p.Ile241Met)
c.561C>G (p.Ile187Met)
c.870C>G (p.Ile290Met)
c.705C>G (p.Ile235Met)
c.954C>G (p.Ile318Met)
c.768C>G (p.Ile256Met)
n.885C>G
13g.113118474C>TCA485423846F7c.801C>T (p.Ile267=)
c.867C>T (p.Ile289=)
c.615C>T (p.Ile205=)
n.888C>T
c.660C>T (p.Ile220=)
c.909C>T (p.Ile303=)
c.723C>T (p.Ile241=)
c.561C>T (p.Ile187=)
c.870C>T (p.Ile290=)
c.705C>T (p.Ile235=)
c.954C>T (p.Ile318=)
c.768C>T (p.Ile256=)
n.885C>T
13g.113118475A>CCA388785890F7c.802A>C (p.Ile268Leu)
c.868A>C (p.Ile290Leu)
c.616A>C (p.Ile206Leu)
n.889A>C
c.661A>C (p.Ile221Leu)
c.910A>C (p.Ile304Leu)
c.724A>C (p.Ile242Leu)
c.562A>C (p.Ile188Leu)
c.871A>C (p.Ile291Leu)
c.706A>C (p.Ile236Leu)
c.955A>C (p.Ile319Leu)
c.769A>C (p.Ile257Leu)
n.886A>C
13g.113118475A>GCA388785888F7c.802A>G (p.Ile268Val)
c.868A>G (p.Ile290Val)
c.616A>G (p.Ile206Val)
n.889A>G
c.661A>G (p.Ile221Val)
c.910A>G (p.Ile304Val)
c.724A>G (p.Ile242Val)
c.562A>G (p.Ile188Val)
c.871A>G (p.Ile291Val)
c.706A>G (p.Ile236Val)
c.955A>G (p.Ile319Val)
c.769A>G (p.Ile257Val)
n.886A>G
13g.113118475A>TCA388785889F7c.802A>T (p.Ile268Phe)
c.868A>T (p.Ile290Phe)
c.616A>T (p.Ile206Phe)
n.889A>T
c.661A>T (p.Ile221Phe)
c.910A>T (p.Ile304Phe)
c.724A>T (p.Ile242Phe)
c.562A>T (p.Ile188Phe)
c.871A>T (p.Ile291Phe)
c.706A>T (p.Ile236Phe)
c.955A>T (p.Ile319Phe)
c.769A>T (p.Ile257Phe)
n.886A>T
13g.113118476T>ACA388785891F7c.803T>A (p.Ile268Asn)
c.869T>A (p.Ile290Asn)
c.617T>A (p.Ile206Asn)
n.890T>A
c.662T>A (p.Ile221Asn)
c.911T>A (p.Ile304Asn)
c.725T>A (p.Ile242Asn)
c.563T>A (p.Ile188Asn)
c.872T>A (p.Ile291Asn)
c.707T>A (p.Ile236Asn)
c.956T>A (p.Ile319Asn)
c.770T>A (p.Ile257Asn)
n.887T>A
13g.113118476T>CCA388785892F7c.803T>C (p.Ile268Thr)
c.869T>C (p.Ile290Thr)
c.617T>C (p.Ile206Thr)
n.890T>C
c.662T>C (p.Ile221Thr)
c.911T>C (p.Ile304Thr)
c.725T>C (p.Ile242Thr)
c.563T>C (p.Ile188Thr)
c.872T>C (p.Ile291Thr)
c.707T>C (p.Ile236Thr)
c.956T>C (p.Ile319Thr)
c.770T>C (p.Ile257Thr)
n.887T>C
13g.113118476T>GCA388785893F7c.803T>G (p.Ile268Ser)
c.869T>G (p.Ile290Ser)
c.617T>G (p.Ile206Ser)
n.890T>G
c.662T>G (p.Ile221Ser)
c.911T>G (p.Ile304Ser)
c.725T>G (p.Ile242Ser)
c.563T>G (p.Ile188Ser)
c.872T>G (p.Ile291Ser)
c.707T>G (p.Ile236Ser)
c.956T>G (p.Ile319Ser)
c.770T>G (p.Ile257Ser)
n.887T>G
13g.113118477C>ACA485423847F7c.804C>A (p.Ile268=)
c.870C>A (p.Ile290=)
c.618C>A (p.Ile206=)
n.891C>A
c.663C>A (p.Ile221=)
c.912C>A (p.Ile304=)
c.726C>A (p.Ile242=)
c.564C>A (p.Ile188=)
c.873C>A (p.Ile291=)
c.708C>A (p.Ile236=)
c.957C>A (p.Ile319=)
c.771C>A (p.Ile257=)
n.888C>A
13g.113118477C>GCA388785894F7c.804C>G (p.Ile268Met)
c.870C>G (p.Ile290Met)
c.618C>G (p.Ile206Met)
n.891C>G
c.663C>G (p.Ile221Met)
c.912C>G (p.Ile304Met)
c.726C>G (p.Ile242Met)
c.564C>G (p.Ile188Met)
c.873C>G (p.Ile291Met)
c.708C>G (p.Ile236Met)
c.957C>G (p.Ile319Met)
c.771C>G (p.Ile257Met)
n.888C>G
13g.113118477C>TCA485423848F7c.804C>T (p.Ile268=)
c.870C>T (p.Ile290=)
c.618C>T (p.Ile206=)
n.891C>T
c.663C>T (p.Ile221=)
c.912C>T (p.Ile304=)
c.726C>T (p.Ile242=)
c.564C>T (p.Ile188=)
c.873C>T (p.Ile291=)
c.708C>T (p.Ile236=)
c.957C>T (p.Ile319=)
c.771C>T (p.Ile257=)
n.888C>T
13g.113118478C>ACA388785895F7c.805C>A (p.Pro269Thr)
c.871C>A (p.Pro291Thr)
c.619C>A (p.Pro207Thr)
n.892C>A
c.664C>A (p.Pro222Thr)
c.913C>A (p.Pro305Thr)
c.727C>A (p.Pro243Thr)
c.565C>A (p.Pro189Thr)
c.874C>A (p.Pro292Thr)
c.709C>A (p.Pro237Thr)
c.958C>A (p.Pro320Thr)
c.772C>A (p.Pro258Thr)
n.889C>A
 gnomAD v4
13g.113118478C=CA2120141899F7c.805C= (p.Pro269=)
c.871C= (p.Pro291=)
c.619C= (p.Pro207=)
n.892C=
c.664C= (p.Pro222=)
c.913C= (p.Pro305=)
c.727C= (p.Pro243=)
c.565C= (p.Pro189=)
c.874C= (p.Pro292=)
c.709C= (p.Pro237=)
c.958C= (p.Pro320=)
c.772C= (p.Pro258=)
n.889C=
13g.113118478C>GCA388785896F7c.805C>G (p.Pro269Ala)
c.871C>G (p.Pro291Ala)
c.619C>G (p.Pro207Ala)
n.892C>G
c.664C>G (p.Pro222Ala)
c.913C>G (p.Pro305Ala)
c.727C>G (p.Pro243Ala)
c.565C>G (p.Pro189Ala)
c.874C>G (p.Pro292Ala)
c.709C>G (p.Pro237Ala)
c.958C>G (p.Pro320Ala)
c.772C>G (p.Pro258Ala)
n.889C>G
13g.113118478C>TCA256461494F7c.805C>T (p.Pro269Ser)
c.871C>T (p.Pro291Ser)
c.619C>T (p.Pro207Ser)
n.892C>T
c.664C>T (p.Pro222Ser)
c.913C>T (p.Pro305Ser)
c.727C>T (p.Pro243Ser)
c.565C>T (p.Pro189Ser)
c.874C>T (p.Pro292Ser)
c.709C>T (p.Pro237Ser)
c.958C>T (p.Pro320Ser)
c.772C>T (p.Pro258Ser)
n.889C>T
 dbSNP gnomAD v3 gnomAD v4
13g.113118479C>ACA388785897F7c.806C>A (p.Pro269His)
c.872C>A (p.Pro291His)
c.620C>A (p.Pro207His)
n.893C>A
c.665C>A (p.Pro222His)
c.914C>A (p.Pro305His)
c.728C>A (p.Pro243His)
c.566C>A (p.Pro189His)
c.875C>A (p.Pro292His)
c.710C>A (p.Pro237His)
c.959C>A (p.Pro320His)
c.773C>A (p.Pro258His)
n.890C>A
13g.113118479C>GCA388785898F7c.806C>G (p.Pro269Arg)
c.872C>G (p.Pro291Arg)
c.620C>G (p.Pro207Arg)
n.893C>G
c.665C>G (p.Pro222Arg)
c.914C>G (p.Pro305Arg)
c.728C>G (p.Pro243Arg)
c.566C>G (p.Pro189Arg)
c.875C>G (p.Pro292Arg)
c.710C>G (p.Pro237Arg)
c.959C>G (p.Pro320Arg)
c.773C>G (p.Pro258Arg)
n.890C>G
 COSMIC
13g.113118479C>TCA388785899F7c.806C>T (p.Pro269Leu)
c.872C>T (p.Pro291Leu)
c.620C>T (p.Pro207Leu)
n.893C>T
c.665C>T (p.Pro222Leu)
c.914C>T (p.Pro305Leu)
c.728C>T (p.Pro243Leu)
c.566C>T (p.Pro189Leu)
c.875C>T (p.Pro292Leu)
c.710C>T (p.Pro237Leu)
c.959C>T (p.Pro320Leu)
c.773C>T (p.Pro258Leu)
n.890C>T
13g.113118480C>ACA485423849F7c.807C>A (p.Pro269=)
c.873C>A (p.Pro291=)
c.621C>A (p.Pro207=)
n.894C>A
c.666C>A (p.Pro222=)
c.915C>A (p.Pro305=)
c.729C>A (p.Pro243=)
c.567C>A (p.Pro189=)
c.876C>A (p.Pro292=)
c.711C>A (p.Pro237=)
c.960C>A (p.Pro320=)
c.774C>A (p.Pro258=)
n.891C>A
13g.113118480C=CA2120141902F7c.807C= (p.Pro269=)
c.873C= (p.Pro291=)
c.621C= (p.Pro207=)
n.894C=
c.666C= (p.Pro222=)
c.915C= (p.Pro305=)
c.729C= (p.Pro243=)
c.567C= (p.Pro189=)
c.876C= (p.Pro292=)
c.711C= (p.Pro237=)
c.960C= (p.Pro320=)
c.774C= (p.Pro258=)
n.891C=
13g.113118480C>GCA485423851F7c.807C>G (p.Pro269=)
c.873C>G (p.Pro291=)
c.621C>G (p.Pro207=)
n.894C>G
c.666C>G (p.Pro222=)
c.915C>G (p.Pro305=)
c.729C>G (p.Pro243=)
c.567C>G (p.Pro189=)
c.876C>G (p.Pro292=)
c.711C>G (p.Pro237=)
c.960C>G (p.Pro320=)
c.774C>G (p.Pro258=)
n.891C>G
13g.113118480C>TCA485423850F7c.807C>T (p.Pro269=)
c.873C>T (p.Pro291=)
c.621C>T (p.Pro207=)
n.894C>T
c.666C>T (p.Pro222=)
c.915C>T (p.Pro305=)
c.729C>T (p.Pro243=)
c.567C>T (p.Pro189=)
c.876C>T (p.Pro292=)
c.711C>T (p.Pro237=)
c.960C>T (p.Pro320=)
c.774C>T (p.Pro258=)
n.891C>T
 dbSNP gnomAD v2 gnomAD v4
13g.113118481A>CCA388785902F7c.808A>C (p.Ser270Arg)
c.874A>C (p.Ser292Arg)
c.622A>C (p.Ser208Arg)
n.895A>C
c.667A>C (p.Ser223Arg)
c.916A>C (p.Ser306Arg)
c.730A>C (p.Ser244Arg)
c.568A>C (p.Ser190Arg)
c.877A>C (p.Ser293Arg)
c.712A>C (p.Ser238Arg)
c.961A>C (p.Ser321Arg)
c.775A>C (p.Ser259Arg)
n.892A>C
13g.113118481A>GCA388785900F7c.808A>G (p.Ser270Gly)
c.874A>G (p.Ser292Gly)
c.622A>G (p.Ser208Gly)
n.895A>G
c.667A>G (p.Ser223Gly)
c.916A>G (p.Ser306Gly)
c.730A>G (p.Ser244Gly)
c.568A>G (p.Ser190Gly)
c.877A>G (p.Ser293Gly)
c.712A>G (p.Ser238Gly)
c.961A>G (p.Ser321Gly)
c.775A>G (p.Ser259Gly)
n.892A>G
13g.113118481A>TCA388785901F7c.808A>T (p.Ser270Cys)
c.874A>T (p.Ser292Cys)
c.622A>T (p.Ser208Cys)
n.895A>T
c.667A>T (p.Ser223Cys)
c.916A>T (p.Ser306Cys)
c.730A>T (p.Ser244Cys)
c.568A>T (p.Ser190Cys)
c.877A>T (p.Ser293Cys)
c.712A>T (p.Ser238Cys)
c.961A>T (p.Ser321Cys)
c.775A>T (p.Ser259Cys)
n.892A>T
13g.113118482G>ACA388785903F7c.809G>A (p.Ser270Asn)
c.875G>A (p.Ser292Asn)
c.623G>A (p.Ser208Asn)
n.896G>A
c.668G>A (p.Ser223Asn)
c.917G>A (p.Ser306Asn)
c.731G>A (p.Ser244Asn)
c.569G>A (p.Ser190Asn)
c.878G>A (p.Ser293Asn)
c.713G>A (p.Ser238Asn)
c.962G>A (p.Ser321Asn)
c.776G>A (p.Ser259Asn)
n.893G>A
13g.113118482G>CCA388785904F7c.809G>C (p.Ser270Thr)
c.875G>C (p.Ser292Thr)
c.623G>C (p.Ser208Thr)
n.896G>C
c.668G>C (p.Ser223Thr)
c.917G>C (p.Ser306Thr)
c.731G>C (p.Ser244Thr)
c.569G>C (p.Ser190Thr)
c.878G>C (p.Ser293Thr)
c.713G>C (p.Ser238Thr)
c.962G>C (p.Ser321Thr)
c.776G>C (p.Ser259Thr)
n.893G>C
13g.113118482G>TCA388785905F7c.809G>T (p.Ser270Ile)
c.875G>T (p.Ser292Ile)
c.623G>T (p.Ser208Ile)
n.896G>T
c.668G>T (p.Ser223Ile)
c.917G>T (p.Ser306Ile)
c.731G>T (p.Ser244Ile)
c.569G>T (p.Ser190Ile)
c.878G>T (p.Ser293Ile)
c.713G>T (p.Ser238Ile)
c.962G>T (p.Ser321Ile)
c.776G>T (p.Ser259Ile)
n.893G>T
13g.113118483C>ACA388785906F7c.810C>A (p.Ser270Arg)
c.876C>A (p.Ser292Arg)
c.624C>A (p.Ser208Arg)
n.897C>A
c.669C>A (p.Ser223Arg)
c.918C>A (p.Ser306Arg)
c.732C>A (p.Ser244Arg)
c.570C>A (p.Ser190Arg)
c.879C>A (p.Ser293Arg)
c.714C>A (p.Ser238Arg)
c.963C>A (p.Ser321Arg)
c.777C>A (p.Ser259Arg)
n.894C>A
13g.113118483C>GCA388785907F7c.810C>G (p.Ser270Arg)
c.876C>G (p.Ser292Arg)
c.624C>G (p.Ser208Arg)
n.897C>G
c.669C>G (p.Ser223Arg)
c.918C>G (p.Ser306Arg)
c.732C>G (p.Ser244Arg)
c.570C>G (p.Ser190Arg)
c.879C>G (p.Ser293Arg)
c.714C>G (p.Ser238Arg)
c.963C>G (p.Ser321Arg)
c.777C>G (p.Ser259Arg)
n.894C>G
13g.113118483C>TCA485423852F7c.810C>T (p.Ser270=)
c.876C>T (p.Ser292=)
c.624C>T (p.Ser208=)
n.897C>T
c.669C>T (p.Ser223=)
c.918C>T (p.Ser306=)
c.732C>T (p.Ser244=)
c.570C>T (p.Ser190=)
c.879C>T (p.Ser293=)
c.714C>T (p.Ser238=)
c.963C>T (p.Ser321=)
c.777C>T (p.Ser259=)
n.894C>T
 gnomAD v4
13g.113118484delCA2623808937F7c.811del (p.Thr271ArgfsTer?)
c.877del (p.Thr293ArgfsTer?)
c.625del (p.Thr209ArgfsTer?)
n.898del
c.670del (p.Thr224ArgfsTer?)
c.919del (p.Thr307ArgfsTer?)
c.733del (p.Thr245ArgfsTer?)
c.571del (p.Thr191ArgfsTer?)
c.880del (p.Thr294ArgfsTer?)
c.715del (p.Thr239ArgfsTer?)
c.964del (p.Thr322ArgfsTer?)
c.778del (p.Thr260ArgfsTer?)
n.895del
 gnomAD v4
13g.113118484A=CA2120141907F7c.811A= (p.Thr271=)
c.877A= (p.Thr293=)
c.625A= (p.Thr209=)
n.898A=
c.670A= (p.Thr224=)
c.919A= (p.Thr307=)
c.733A= (p.Thr245=)
c.571A= (p.Thr191=)
c.880A= (p.Thr294=)
c.715A= (p.Thr239=)
c.964A= (p.Thr322=)
c.778A= (p.Thr260=)
n.895A=
13g.113118484A>CCA388785908F7c.811A>C (p.Thr271Pro)
c.877A>C (p.Thr293Pro)
c.625A>C (p.Thr209Pro)
n.898A>C
c.670A>C (p.Thr224Pro)
c.919A>C (p.Thr307Pro)
c.733A>C (p.Thr245Pro)
c.571A>C (p.Thr191Pro)
c.880A>C (p.Thr294Pro)
c.715A>C (p.Thr239Pro)
c.964A>C (p.Thr322Pro)
c.778A>C (p.Thr260Pro)
n.895A>C
13g.113118484A>GCA388785909F7c.811A>G (p.Thr271Ala)
c.877A>G (p.Thr293Ala)
c.625A>G (p.Thr209Ala)
n.898A>G
c.670A>G (p.Thr224Ala)
c.919A>G (p.Thr307Ala)
c.733A>G (p.Thr245Ala)
c.571A>G (p.Thr191Ala)
c.880A>G (p.Thr294Ala)
c.715A>G (p.Thr239Ala)
c.964A>G (p.Thr322Ala)
c.778A>G (p.Thr260Ala)
n.895A>G
13g.113118484A>TCA388785910F7c.811A>T (p.Thr271Ser)
c.877A>T (p.Thr293Ser)
c.625A>T (p.Thr209Ser)
n.898A>T
c.670A>T (p.Thr224Ser)
c.919A>T (p.Thr307Ser)
c.733A>T (p.Thr245Ser)
c.571A>T (p.Thr191Ser)
c.880A>T (p.Thr294Ser)
c.715A>T (p.Thr239Ser)
c.964A>T (p.Thr322Ser)
c.778A>T (p.Thr260Ser)
n.895A>T
13g.113118485C>ACA388785911F7c.812C>A (p.Thr271Lys)
c.878C>A (p.Thr293Lys)
c.626C>A (p.Thr209Lys)
n.899C>A
c.671C>A (p.Thr224Lys)
c.920C>A (p.Thr307Lys)
c.734C>A (p.Thr245Lys)
c.572C>A (p.Thr191Lys)
c.881C>A (p.Thr294Lys)
c.716C>A (p.Thr239Lys)
c.965C>A (p.Thr322Lys)
c.779C>A (p.Thr260Lys)
n.896C>A
13g.113118485C=CA2120141910F7c.812C= (p.Thr271=)
c.878C= (p.Thr293=)
c.626C= (p.Thr209=)
n.899C=
c.671C= (p.Thr224=)
c.920C= (p.Thr307=)
c.734C= (p.Thr245=)
c.572C= (p.Thr191=)
c.881C= (p.Thr294=)
c.716C= (p.Thr239=)
c.965C= (p.Thr322=)
c.779C= (p.Thr260=)
n.896C=
13g.113118485C>GCA388785912F7c.812C>G (p.Thr271Arg)
c.878C>G (p.Thr293Arg)
c.626C>G (p.Thr209Arg)
n.899C>G
c.671C>G (p.Thr224Arg)
c.920C>G (p.Thr307Arg)
c.734C>G (p.Thr245Arg)
c.572C>G (p.Thr191Arg)
c.881C>G (p.Thr294Arg)
c.716C>G (p.Thr239Arg)
c.965C>G (p.Thr322Arg)
c.779C>G (p.Thr260Arg)
n.896C>G
13g.113118485C>TCA7060152F7c.812C>T (p.Thr271Met)
c.878C>T (p.Thr293Met)
c.626C>T (p.Thr209Met)
n.899C>T
c.671C>T (p.Thr224Met)
c.920C>T (p.Thr307Met)
c.734C>T (p.Thr245Met)
c.572C>T (p.Thr191Met)
c.881C>T (p.Thr294Met)
c.716C>T (p.Thr239Met)
c.965C>T (p.Thr322Met)
c.779C>T (p.Thr260Met)
n.896C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113118485dupCA960397064F7c.812dup (p.Tyr272ValfsTer23)
c.878dup (p.Tyr294ValfsTer23)
c.626dup (p.Tyr210ValfsTer23)
n.899dup
c.671dup (p.Tyr225ValfsTer23)
c.920dup (p.Tyr308ValfsTer23)
c.734dup (p.Tyr246ValfsTer23)
c.572dup (p.Tyr192ValfsTer23)
c.881dup (p.Tyr295ValfsTer23)
c.716dup (p.Tyr240ValfsTer23)
c.965dup (p.Tyr323ValfsTer23)
c.779dup (p.Tyr261ValfsTer23)
n.896dup
 dbSNP gnomAD v3 gnomAD v4
13g.113118486G>ACA7060153F7c.813G>A (p.Thr271=)
c.879G>A (p.Thr293=)
c.627G>A (p.Thr209=)
n.900G>A
c.672G>A (p.Thr224=)
c.921G>A (p.Thr307=)
c.735G>A (p.Thr245=)
c.573G>A (p.Thr191=)
c.882G>A (p.Thr294=)
c.717G>A (p.Thr239=)
c.966G>A (p.Thr322=)
c.780G>A (p.Thr260=)
n.897G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118486G>CCA485423854F7c.813G>C (p.Thr271=)
c.879G>C (p.Thr293=)
c.627G>C (p.Thr209=)
n.900G>C
c.672G>C (p.Thr224=)
c.921G>C (p.Thr307=)
c.735G>C (p.Thr245=)
c.573G>C (p.Thr191=)
c.882G>C (p.Thr294=)
c.717G>C (p.Thr239=)
c.966G>C (p.Thr322=)
c.780G>C (p.Thr260=)
n.897G>C
13g.113118486G=CA2120141917F7c.813G= (p.Thr271=)
c.879G= (p.Thr293=)
c.627G= (p.Thr209=)
n.900G=
c.672G= (p.Thr224=)
c.921G= (p.Thr307=)
c.735G= (p.Thr245=)
c.573G= (p.Thr191=)
c.882G= (p.Thr294=)
c.717G= (p.Thr239=)
c.966G= (p.Thr322=)
c.780G= (p.Thr260=)
n.897G=
13g.113118486G>TCA485423853F7c.813G>T (p.Thr271=)
c.879G>T (p.Thr293=)
c.627G>T (p.Thr209=)
n.900G>T
c.672G>T (p.Thr224=)
c.921G>T (p.Thr307=)
c.735G>T (p.Thr245=)
c.573G>T (p.Thr191=)
c.882G>T (p.Thr294=)
c.717G>T (p.Thr239=)
c.966G>T (p.Thr322=)
c.780G>T (p.Thr260=)
n.897G>T
13g.113118487T>ACA388785915F7c.814T>A (p.Tyr272Asn)
c.880T>A (p.Tyr294Asn)
c.628T>A (p.Tyr210Asn)
n.901T>A
c.673T>A (p.Tyr225Asn)
c.922T>A (p.Tyr308Asn)
c.736T>A (p.Tyr246Asn)
c.574T>A (p.Tyr192Asn)
c.883T>A (p.Tyr295Asn)
c.718T>A (p.Tyr240Asn)
c.967T>A (p.Tyr323Asn)
c.781T>A (p.Tyr261Asn)
n.898T>A
13g.113118487T>CCA388785913F7c.814T>C (p.Tyr272His)
c.880T>C (p.Tyr294His)
c.628T>C (p.Tyr210His)
n.901T>C
c.673T>C (p.Tyr225His)
c.922T>C (p.Tyr308His)
c.736T>C (p.Tyr246His)
c.574T>C (p.Tyr192His)
c.883T>C (p.Tyr295His)
c.718T>C (p.Tyr240His)
c.967T>C (p.Tyr323His)
c.781T>C (p.Tyr261His)
n.898T>C
13g.113118487T>GCA388785914F7c.814T>G (p.Tyr272Asp)
c.880T>G (p.Tyr294Asp)
c.628T>G (p.Tyr210Asp)
n.901T>G
c.673T>G (p.Tyr225Asp)
c.922T>G (p.Tyr308Asp)
c.736T>G (p.Tyr246Asp)
c.574T>G (p.Tyr192Asp)
c.883T>G (p.Tyr295Asp)
c.718T>G (p.Tyr240Asp)
c.967T>G (p.Tyr323Asp)
c.781T>G (p.Tyr261Asp)
n.898T>G
13g.113118488A=CA2120141919F7c.815A= (p.Tyr272=)
c.881A= (p.Tyr294=)
c.629A= (p.Tyr210=)
n.902A=
c.674A= (p.Tyr225=)
c.923A= (p.Tyr308=)
c.737A= (p.Tyr246=)
c.575A= (p.Tyr192=)
c.884A= (p.Tyr295=)
c.719A= (p.Tyr240=)
c.968A= (p.Tyr323=)
c.782A= (p.Tyr261=)
n.899A=
13g.113118488A>CCA7060154F7c.815A>C (p.Tyr272Ser)
c.881A>C (p.Tyr294Ser)
c.629A>C (p.Tyr210Ser)
n.902A>C
c.674A>C (p.Tyr225Ser)
c.923A>C (p.Tyr308Ser)
c.737A>C (p.Tyr246Ser)
c.575A>C (p.Tyr192Ser)
c.884A>C (p.Tyr295Ser)
c.719A>C (p.Tyr240Ser)
c.968A>C (p.Tyr323Ser)
c.782A>C (p.Tyr261Ser)
n.899A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118488A>GCA388785916F7c.815A>G (p.Tyr272Cys)
c.881A>G (p.Tyr294Cys)
c.629A>G (p.Tyr210Cys)
n.902A>G
c.674A>G (p.Tyr225Cys)
c.923A>G (p.Tyr308Cys)
c.737A>G (p.Tyr246Cys)
c.575A>G (p.Tyr192Cys)
c.884A>G (p.Tyr295Cys)
c.719A>G (p.Tyr240Cys)
c.968A>G (p.Tyr323Cys)
c.782A>G (p.Tyr261Cys)
n.899A>G
13g.113118488A>TCA388785917F7c.815A>T (p.Tyr272Phe)
c.881A>T (p.Tyr294Phe)
c.629A>T (p.Tyr210Phe)
n.902A>T
c.674A>T (p.Tyr225Phe)
c.923A>T (p.Tyr308Phe)
c.737A>T (p.Tyr246Phe)
c.575A>T (p.Tyr192Phe)
c.884A>T (p.Tyr295Phe)
c.719A>T (p.Tyr240Phe)
c.968A>T (p.Tyr323Phe)
c.782A>T (p.Tyr261Phe)
n.899A>T
 dbSNP gnomAD v2
13g.113118489C>ACA7060156F7c.816C>A (p.Tyr272Ter)
c.882C>A (p.Tyr294Ter)
c.630C>A (p.Tyr210Ter)
n.903C>A
c.675C>A (p.Tyr225Ter)
c.924C>A (p.Tyr308Ter)
c.738C>A (p.Tyr246Ter)
c.576C>A (p.Tyr192Ter)
c.885C>A (p.Tyr295Ter)
c.720C>A (p.Tyr240Ter)
c.969C>A (p.Tyr323Ter)
c.783C>A (p.Tyr261Ter)
n.900C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118489C=CA2120141921F7c.816C= (p.Tyr272=)
c.882C= (p.Tyr294=)
c.630C= (p.Tyr210=)
n.903C=
c.675C= (p.Tyr225=)
c.924C= (p.Tyr308=)
c.738C= (p.Tyr246=)
c.576C= (p.Tyr192=)
c.885C= (p.Tyr295=)
c.720C= (p.Tyr240=)
c.969C= (p.Tyr323=)
c.783C= (p.Tyr261=)
n.900C=
13g.113118489C>GCA388785918F7c.816C>G (p.Tyr272Ter)
c.882C>G (p.Tyr294Ter)
c.630C>G (p.Tyr210Ter)
n.903C>G
c.675C>G (p.Tyr225Ter)
c.924C>G (p.Tyr308Ter)
c.738C>G (p.Tyr246Ter)
c.576C>G (p.Tyr192Ter)
c.885C>G (p.Tyr295Ter)
c.720C>G (p.Tyr240Ter)
c.969C>G (p.Tyr323Ter)
c.783C>G (p.Tyr261Ter)
n.900C>G
 gnomAD v4
13g.113118489C>TCA7060155F7c.816C>T (p.Tyr272=)
c.882C>T (p.Tyr294=)
c.630C>T (p.Tyr210=)
n.903C>T
c.675C>T (p.Tyr225=)
c.924C>T (p.Tyr308=)
c.738C>T (p.Tyr246=)
c.576C>T (p.Tyr192=)
c.885C>T (p.Tyr295=)
c.720C>T (p.Tyr240=)
c.969C>T (p.Tyr323=)
c.783C>T (p.Tyr261=)
n.900C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118490G>ACA256461508F7c.817G>A (p.Val273Ile)
c.883G>A (p.Val295Ile)
c.631G>A (p.Val211Ile)
n.904G>A
c.676G>A (p.Val226Ile)
c.925G>A (p.Val309Ile)
c.739G>A (p.Val247Ile)
c.577G>A (p.Val193Ile)
c.886G>A (p.Val296Ile)
c.721G>A (p.Val241Ile)
c.970G>A (p.Val324Ile)
c.784G>A (p.Val262Ile)
n.901G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113118490G>CCA388785919F7c.817G>C (p.Val273Leu)
c.883G>C (p.Val295Leu)
c.631G>C (p.Val211Leu)
n.904G>C
c.676G>C (p.Val226Leu)
c.925G>C (p.Val309Leu)
c.739G>C (p.Val247Leu)
c.577G>C (p.Val193Leu)
c.886G>C (p.Val296Leu)
c.721G>C (p.Val241Leu)
c.970G>C (p.Val324Leu)
c.784G>C (p.Val262Leu)
n.901G>C
13g.113118490G=CA2120141924F7c.817G= (p.Val273=)
c.883G= (p.Val295=)
c.631G= (p.Val211=)
n.904G=
c.676G= (p.Val226=)
c.925G= (p.Val309=)
c.739G= (p.Val247=)
c.577G= (p.Val193=)
c.886G= (p.Val296=)
c.721G= (p.Val241=)
c.970G= (p.Val324=)
c.784G= (p.Val262=)
n.901G=
13g.113118490G>TCA388785920F7c.817G>T (p.Val273Phe)
c.883G>T (p.Val295Phe)
c.631G>T (p.Val211Phe)
n.904G>T
c.676G>T (p.Val226Phe)
c.925G>T (p.Val309Phe)
c.739G>T (p.Val247Phe)
c.577G>T (p.Val193Phe)
c.886G>T (p.Val296Phe)
c.721G>T (p.Val241Phe)
c.970G>T (p.Val324Phe)
c.784G>T (p.Val262Phe)
n.901G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113118491T>ACA7060157F7c.818T>A (p.Val273Asp)
c.884T>A (p.Val295Asp)
c.632T>A (p.Val211Asp)
n.905T>A
c.677T>A (p.Val226Asp)
c.926T>A (p.Val309Asp)
c.740T>A (p.Val247Asp)
c.578T>A (p.Val193Asp)
c.887T>A (p.Val296Asp)
c.722T>A (p.Val241Asp)
c.971T>A (p.Val324Asp)
c.785T>A (p.Val262Asp)
n.902T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118491T>CCA388785922F7c.818T>C (p.Val273Ala)
c.884T>C (p.Val295Ala)
c.632T>C (p.Val211Ala)
n.905T>C
c.677T>C (p.Val226Ala)
c.926T>C (p.Val309Ala)
c.740T>C (p.Val247Ala)
c.578T>C (p.Val193Ala)
c.887T>C (p.Val296Ala)
c.722T>C (p.Val241Ala)
c.971T>C (p.Val324Ala)
c.785T>C (p.Val262Ala)
n.902T>C
 gnomAD v4
13g.113118491T>GCA388785921F7c.818T>G (p.Val273Gly)
c.884T>G (p.Val295Gly)
c.632T>G (p.Val211Gly)
n.905T>G
c.677T>G (p.Val226Gly)
c.926T>G (p.Val309Gly)
c.740T>G (p.Val247Gly)
c.578T>G (p.Val193Gly)
c.887T>G (p.Val296Gly)
c.722T>G (p.Val241Gly)
c.971T>G (p.Val324Gly)
c.785T>G (p.Val262Gly)
n.902T>G
13g.113118491T=CA2018007886F7c.818T= (p.Val273=)
c.884T= (p.Val295=)
c.632T= (p.Val211=)
n.905T=
c.677T= (p.Val226=)
c.926T= (p.Val309=)
c.740T= (p.Val247=)
c.578T= (p.Val193=)
c.887T= (p.Val296=)
c.722T= (p.Val241=)
c.971T= (p.Val324=)
c.785T= (p.Val262=)
n.902T=
13g.113118492C>ACA485423855F7c.819C>A (p.Val273=)
c.885C>A (p.Val295=)
c.633C>A (p.Val211=)
n.906C>A
c.678C>A (p.Val226=)
c.927C>A (p.Val309=)
c.741C>A (p.Val247=)
c.579C>A (p.Val193=)
c.888C>A (p.Val296=)
c.723C>A (p.Val241=)
c.972C>A (p.Val324=)
c.786C>A (p.Val262=)
n.903C>A
13g.113118492C>GCA485423856F7c.819C>G (p.Val273=)
c.885C>G (p.Val295=)
c.633C>G (p.Val211=)
n.906C>G
c.678C>G (p.Val226=)
c.927C>G (p.Val309=)
c.741C>G (p.Val247=)
c.579C>G (p.Val193=)
c.888C>G (p.Val296=)
c.723C>G (p.Val241=)
c.972C>G (p.Val324=)
c.786C>G (p.Val262=)
n.903C>G
13g.113118492C>TCA485423857F7c.819C>T (p.Val273=)
c.885C>T (p.Val295=)
c.633C>T (p.Val211=)
n.906C>T
c.678C>T (p.Val226=)
c.927C>T (p.Val309=)
c.741C>T (p.Val247=)
c.579C>T (p.Val193=)
c.888C>T (p.Val296=)
c.723C>T (p.Val241=)
c.972C>T (p.Val324=)
c.786C>T (p.Val262=)
n.903C>T
13g.113118493C>ACA388785923F7c.820C>A (p.Pro274Thr)
c.886C>A (p.Pro296Thr)
c.634C>A (p.Pro212Thr)
n.907C>A
c.679C>A (p.Pro227Thr)
c.928C>A (p.Pro310Thr)
c.742C>A (p.Pro248Thr)
c.580C>A (p.Pro194Thr)
c.889C>A (p.Pro297Thr)
c.724C>A (p.Pro242Thr)
c.973C>A (p.Pro325Thr)
c.787C>A (p.Pro263Thr)
n.904C>A
13g.113118493C=CA2120141930F7c.820C= (p.Pro274=)
c.886C= (p.Pro296=)
c.634C= (p.Pro212=)
n.907C=
c.679C= (p.Pro227=)
c.928C= (p.Pro310=)
c.742C= (p.Pro248=)
c.580C= (p.Pro194=)
c.889C= (p.Pro297=)
c.724C= (p.Pro242=)
c.973C= (p.Pro325=)
c.787C= (p.Pro263=)
n.904C=
13g.113118493C>GCA388785924F7c.820C>G (p.Pro274Ala)
c.886C>G (p.Pro296Ala)
c.634C>G (p.Pro212Ala)
n.907C>G
c.679C>G (p.Pro227Ala)
c.928C>G (p.Pro310Ala)
c.742C>G (p.Pro248Ala)
c.580C>G (p.Pro194Ala)
c.889C>G (p.Pro297Ala)
c.724C>G (p.Pro242Ala)
c.973C>G (p.Pro325Ala)
c.787C>G (p.Pro263Ala)
n.904C>G
13g.113118493C>TCA388785925F7c.820C>T (p.Pro274Ser)
c.886C>T (p.Pro296Ser)
c.634C>T (p.Pro212Ser)
n.907C>T
c.679C>T (p.Pro227Ser)
c.928C>T (p.Pro310Ser)
c.742C>T (p.Pro248Ser)
c.580C>T (p.Pro194Ser)
c.889C>T (p.Pro297Ser)
c.724C>T (p.Pro242Ser)
c.973C>T (p.Pro325Ser)
c.787C>T (p.Pro263Ser)
n.904C>T
 dbSNP gnomAD v3 gnomAD v4
13g.113118494C>ACA388785926F7c.821C>A (p.Pro274Gln)
c.887C>A (p.Pro296Gln)
c.635C>A (p.Pro212Gln)
n.908C>A
c.680C>A (p.Pro227Gln)
c.929C>A (p.Pro310Gln)
c.743C>A (p.Pro248Gln)
c.581C>A (p.Pro194Gln)
c.890C>A (p.Pro297Gln)
c.725C>A (p.Pro242Gln)
c.974C>A (p.Pro325Gln)
c.788C>A (p.Pro263Gln)
n.905C>A
 gnomAD v4
13g.113118494C=CA2120141933F7c.821C= (p.Pro274=)
c.887C= (p.Pro296=)
c.635C= (p.Pro212=)
n.908C=
c.680C= (p.Pro227=)
c.929C= (p.Pro310=)
c.743C= (p.Pro248=)
c.581C= (p.Pro194=)
c.890C= (p.Pro297=)
c.725C= (p.Pro242=)
c.974C= (p.Pro325=)
c.788C= (p.Pro263=)
n.905C=
13g.113118494C>GCA388785927F7c.821C>G (p.Pro274Arg)
c.887C>G (p.Pro296Arg)
c.635C>G (p.Pro212Arg)
n.908C>G
c.680C>G (p.Pro227Arg)
c.929C>G (p.Pro310Arg)
c.743C>G (p.Pro248Arg)
c.581C>G (p.Pro194Arg)
c.890C>G (p.Pro297Arg)
c.725C>G (p.Pro242Arg)
c.974C>G (p.Pro325Arg)
c.788C>G (p.Pro263Arg)
n.905C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113118494C>TCA7060158F7c.821C>T (p.Pro274Leu)
c.887C>T (p.Pro296Leu)
c.635C>T (p.Pro212Leu)
n.908C>T
c.680C>T (p.Pro227Leu)
c.929C>T (p.Pro310Leu)
c.743C>T (p.Pro248Leu)
c.581C>T (p.Pro194Leu)
c.890C>T (p.Pro297Leu)
c.725C>T (p.Pro242Leu)
c.974C>T (p.Pro325Leu)
c.788C>T (p.Pro263Leu)
n.905C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118495G>ACA7060159F7c.822G>A (p.Pro274=)
c.888G>A (p.Pro296=)
c.636G>A (p.Pro212=)
n.909G>A
c.681G>A (p.Pro227=)
c.930G>A (p.Pro310=)
c.744G>A (p.Pro248=)
c.582G>A (p.Pro194=)
c.891G>A (p.Pro297=)
c.726G>A (p.Pro242=)
c.975G>A (p.Pro325=)
c.789G>A (p.Pro263=)
n.906G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118495G>CCA485423858F7c.822G>C (p.Pro274=)
c.888G>C (p.Pro296=)
c.636G>C (p.Pro212=)
n.909G>C
c.681G>C (p.Pro227=)
c.930G>C (p.Pro310=)
c.744G>C (p.Pro248=)
c.582G>C (p.Pro194=)
c.891G>C (p.Pro297=)
c.726G>C (p.Pro242=)
c.975G>C (p.Pro325=)
c.789G>C (p.Pro263=)
n.906G>C
13g.113118495G=CA2120141941F7c.822G= (p.Pro274=)
c.888G= (p.Pro296=)
c.636G= (p.Pro212=)
n.909G=
c.681G= (p.Pro227=)
c.930G= (p.Pro310=)
c.744G= (p.Pro248=)
c.582G= (p.Pro194=)
c.891G= (p.Pro297=)
c.726G= (p.Pro242=)
c.975G= (p.Pro325=)
c.789G= (p.Pro263=)
n.906G=
13g.113118495G>TCA485423859F7c.822G>T (p.Pro274=)
c.888G>T (p.Pro296=)
c.636G>T (p.Pro212=)
n.909G>T
c.681G>T (p.Pro227=)
c.930G>T (p.Pro310=)
c.744G>T (p.Pro248=)
c.582G>T (p.Pro194=)
c.891G>T (p.Pro297=)
c.726G>T (p.Pro242=)
c.975G>T (p.Pro325=)
c.789G>T (p.Pro263=)
n.906G>T
 gnomAD v4
13g.113118496G>ACA388785928F7c.823G>A (p.Gly275Ser)
c.889G>A (p.Gly297Ser)
c.637G>A (p.Gly213Ser)
n.910G>A
c.682G>A (p.Gly228Ser)
c.931G>A (p.Gly311Ser)
c.745G>A (p.Gly249Ser)
c.583G>A (p.Gly195Ser)
c.892G>A (p.Gly298Ser)
c.727G>A (p.Gly243Ser)
c.976G>A (p.Gly326Ser)
c.790G>A (p.Gly264Ser)
n.907G>A
 gnomAD v4
13g.113118496G>CCA388785929F7c.823G>C (p.Gly275Arg)
c.889G>C (p.Gly297Arg)
c.637G>C (p.Gly213Arg)
n.910G>C
c.682G>C (p.Gly228Arg)
c.931G>C (p.Gly311Arg)
c.745G>C (p.Gly249Arg)
c.583G>C (p.Gly195Arg)
c.892G>C (p.Gly298Arg)
c.727G>C (p.Gly243Arg)
c.976G>C (p.Gly326Arg)
c.790G>C (p.Gly264Arg)
n.907G>C
13g.113118496G>TCA388785930F7c.823G>T (p.Gly275Cys)
c.889G>T (p.Gly297Cys)
c.637G>T (p.Gly213Cys)
n.910G>T
c.682G>T (p.Gly228Cys)
c.931G>T (p.Gly311Cys)
c.745G>T (p.Gly249Cys)
c.583G>T (p.Gly195Cys)
c.892G>T (p.Gly298Cys)
c.727G>T (p.Gly243Cys)
c.976G>T (p.Gly326Cys)
c.790G>T (p.Gly264Cys)
n.907G>T
13g.113118497G>ACA388785931F7c.824G>A (p.Gly275Asp)
c.890G>A (p.Gly297Asp)
c.638G>A (p.Gly213Asp)
n.911G>A
c.683G>A (p.Gly228Asp)
c.932G>A (p.Gly311Asp)
c.746G>A (p.Gly249Asp)
c.584G>A (p.Gly195Asp)
c.893G>A (p.Gly298Asp)
c.728G>A (p.Gly243Asp)
c.977G>A (p.Gly326Asp)
c.791G>A (p.Gly264Asp)
n.908G>A
 gnomAD v4
13g.113118497G>CCA388785932F7c.824G>C (p.Gly275Ala)
c.890G>C (p.Gly297Ala)
c.638G>C (p.Gly213Ala)
n.911G>C
c.683G>C (p.Gly228Ala)
c.932G>C (p.Gly311Ala)
c.746G>C (p.Gly249Ala)
c.584G>C (p.Gly195Ala)
c.893G>C (p.Gly298Ala)
c.728G>C (p.Gly243Ala)
c.977G>C (p.Gly326Ala)
c.791G>C (p.Gly264Ala)
n.908G>C
13g.113118497G>TCA388785933F7c.824G>T (p.Gly275Val)
c.890G>T (p.Gly297Val)
c.638G>T (p.Gly213Val)
n.911G>T
c.683G>T (p.Gly228Val)
c.932G>T (p.Gly311Val)
c.746G>T (p.Gly249Val)
c.584G>T (p.Gly195Val)
c.893G>T (p.Gly298Val)
c.728G>T (p.Gly243Val)
c.977G>T (p.Gly326Val)
c.791G>T (p.Gly264Val)
n.908G>T
 gnomAD v4
13g.113118498C>ACA485423860F7c.825C>A (p.Gly275=)
c.891C>A (p.Gly297=)
c.639C>A (p.Gly213=)
n.912C>A
c.684C>A (p.Gly228=)
c.933C>A (p.Gly311=)
c.747C>A (p.Gly249=)
c.585C>A (p.Gly195=)
c.894C>A (p.Gly298=)
c.729C>A (p.Gly243=)
c.978C>A (p.Gly326=)
c.792C>A (p.Gly264=)
n.909C>A
 gnomAD v4
13g.113118498C>GCA485423862F7c.825C>G (p.Gly275=)
c.891C>G (p.Gly297=)
c.639C>G (p.Gly213=)
n.912C>G
c.684C>G (p.Gly228=)
c.933C>G (p.Gly311=)
c.747C>G (p.Gly249=)
c.585C>G (p.Gly195=)
c.894C>G (p.Gly298=)
c.729C>G (p.Gly243=)
c.978C>G (p.Gly326=)
c.792C>G (p.Gly264=)
n.909C>G
13g.113118498C>TCA485423861F7c.825C>T (p.Gly275=)
c.891C>T (p.Gly297=)
c.639C>T (p.Gly213=)
n.912C>T
c.684C>T (p.Gly228=)
c.933C>T (p.Gly311=)
c.747C>T (p.Gly249=)
c.585C>T (p.Gly195=)
c.894C>T (p.Gly298=)
c.729C>T (p.Gly243=)
c.978C>T (p.Gly326=)
c.792C>T (p.Gly264=)
n.909C>T
 gnomAD v4
13g.113118499A>CCA388785935F7c.826A>C (p.Thr276Pro)
c.892A>C (p.Thr298Pro)
c.640A>C (p.Thr214Pro)
n.913A>C
c.685A>C (p.Thr229Pro)
c.934A>C (p.Thr312Pro)
c.748A>C (p.Thr250Pro)
c.586A>C (p.Thr196Pro)
c.895A>C (p.Thr299Pro)
c.730A>C (p.Thr244Pro)
c.979A>C (p.Thr327Pro)
c.793A>C (p.Thr265Pro)
n.910A>C
13g.113118499A>GCA388785936F7c.826A>G (p.Thr276Ala)
c.892A>G (p.Thr298Ala)
c.640A>G (p.Thr214Ala)
n.913A>G
c.685A>G (p.Thr229Ala)
c.934A>G (p.Thr312Ala)
c.748A>G (p.Thr250Ala)
c.586A>G (p.Thr196Ala)
c.895A>G (p.Thr299Ala)
c.730A>G (p.Thr244Ala)
c.979A>G (p.Thr327Ala)
c.793A>G (p.Thr265Ala)
n.910A>G
 gnomAD v4
13g.113118499A>TCA388785934F7c.826A>T (p.Thr276Ser)
c.892A>T (p.Thr298Ser)
c.640A>T (p.Thr214Ser)
n.913A>T
c.685A>T (p.Thr229Ser)
c.934A>T (p.Thr312Ser)
c.748A>T (p.Thr250Ser)
c.586A>T (p.Thr196Ser)
c.895A>T (p.Thr299Ser)
c.730A>T (p.Thr244Ser)
c.979A>T (p.Thr327Ser)
c.793A>T (p.Thr265Ser)
n.910A>T
13g.113118500C>ACA256461522F7c.827C>A (p.Thr276Asn)
c.893C>A (p.Thr298Asn)
c.641C>A (p.Thr214Asn)
n.914C>A
c.686C>A (p.Thr229Asn)
c.935C>A (p.Thr312Asn)
c.749C>A (p.Thr250Asn)
c.587C>A (p.Thr196Asn)
c.896C>A (p.Thr299Asn)
c.731C>A (p.Thr244Asn)
c.980C>A (p.Thr327Asn)
c.794C>A (p.Thr265Asn)
n.911C>A
 dbSNP
13g.113118500C=CA2120141945F7c.827C= (p.Thr276=)
c.893C= (p.Thr298=)
c.641C= (p.Thr214=)
n.914C=
c.686C= (p.Thr229=)
c.935C= (p.Thr312=)
c.749C= (p.Thr250=)
c.587C= (p.Thr196=)
c.896C= (p.Thr299=)
c.731C= (p.Thr244=)
c.980C= (p.Thr327=)
c.794C= (p.Thr265=)
n.911C=
13g.113118500C>GCA388785937F7c.827C>G (p.Thr276Ser)
c.893C>G (p.Thr298Ser)
c.641C>G (p.Thr214Ser)
n.914C>G
c.686C>G (p.Thr229Ser)
c.935C>G (p.Thr312Ser)
c.749C>G (p.Thr250Ser)
c.587C>G (p.Thr196Ser)
c.896C>G (p.Thr299Ser)
c.731C>G (p.Thr244Ser)
c.980C>G (p.Thr327Ser)
c.794C>G (p.Thr265Ser)
n.911C>G
13g.113118500C>TCA388785938F7c.827C>T (p.Thr276Ile)
c.893C>T (p.Thr298Ile)
c.641C>T (p.Thr214Ile)
n.914C>T
c.686C>T (p.Thr229Ile)
c.935C>T (p.Thr312Ile)
c.749C>T (p.Thr250Ile)
c.587C>T (p.Thr196Ile)
c.896C>T (p.Thr299Ile)
c.731C>T (p.Thr244Ile)
c.980C>T (p.Thr327Ile)
c.794C>T (p.Thr265Ile)
n.911C>T
13g.113118501C>ACA485423864F7c.828C>A (p.Thr276=)
c.894C>A (p.Thr298=)
c.642C>A (p.Thr214=)
n.915C>A
c.687C>A (p.Thr229=)
c.936C>A (p.Thr312=)
c.750C>A (p.Thr250=)
c.588C>A (p.Thr196=)
c.897C>A (p.Thr299=)
c.732C>A (p.Thr244=)
c.981C>A (p.Thr327=)
c.795C>A (p.Thr265=)
n.912C>A
13g.113118501C=CA2018007884F7c.828C= (p.Thr276=)
c.894C= (p.Thr298=)
c.642C= (p.Thr214=)
n.915C=
c.687C= (p.Thr229=)
c.936C= (p.Thr312=)
c.750C= (p.Thr250=)
c.588C= (p.Thr196=)
c.897C= (p.Thr299=)
c.732C= (p.Thr244=)
c.981C= (p.Thr327=)
c.795C= (p.Thr265=)
n.912C=
13g.113118501C>GCA485423863F7c.828C>G (p.Thr276=)
c.894C>G (p.Thr298=)
c.642C>G (p.Thr214=)
n.915C>G
c.687C>G (p.Thr229=)
c.936C>G (p.Thr312=)
c.750C>G (p.Thr250=)
c.588C>G (p.Thr196=)
c.897C>G (p.Thr299=)
c.732C>G (p.Thr244=)
c.981C>G (p.Thr327=)
c.795C>G (p.Thr265=)
n.912C>G
13g.113118501C>TCA256461525F7c.828C>T (p.Thr276=)
c.894C>T (p.Thr298=)
c.642C>T (p.Thr214=)
n.915C>T
c.687C>T (p.Thr229=)
c.936C>T (p.Thr312=)
c.750C>T (p.Thr250=)
c.588C>T (p.Thr196=)
c.897C>T (p.Thr299=)
c.732C>T (p.Thr244=)
c.981C>T (p.Thr327=)
c.795C>T (p.Thr265=)
n.912C>T
 dbSNP gnomAD v4
13g.113118502A=CA2120141953F7c.829A= (p.Thr277=)
c.895A= (p.Thr299=)
c.643A= (p.Thr215=)
n.916A=
c.688A= (p.Thr230=)
c.937A= (p.Thr313=)
c.751A= (p.Thr251=)
c.589A= (p.Thr197=)
c.898A= (p.Thr300=)
c.733A= (p.Thr245=)
c.982A= (p.Thr328=)
c.796A= (p.Thr266=)
n.913A=
13g.113118502A>CCA388785939F7c.829A>C (p.Thr277Pro)
c.895A>C (p.Thr299Pro)
c.643A>C (p.Thr215Pro)
n.916A>C
c.688A>C (p.Thr230Pro)
c.937A>C (p.Thr313Pro)
c.751A>C (p.Thr251Pro)
c.589A>C (p.Thr197Pro)
c.898A>C (p.Thr300Pro)
c.733A>C (p.Thr245Pro)
c.982A>C (p.Thr328Pro)
c.796A>C (p.Thr266Pro)
n.913A>C
 dbSNP
13g.113118502A>GCA388785940F7c.829A>G (p.Thr277Ala)
c.895A>G (p.Thr299Ala)
c.643A>G (p.Thr215Ala)
n.916A>G
c.688A>G (p.Thr230Ala)
c.937A>G (p.Thr313Ala)
c.751A>G (p.Thr251Ala)
c.589A>G (p.Thr197Ala)
c.898A>G (p.Thr300Ala)
c.733A>G (p.Thr245Ala)
c.982A>G (p.Thr328Ala)
c.796A>G (p.Thr266Ala)
n.913A>G
13g.113118502A>TCA388785941F7c.829A>T (p.Thr277Ser)
c.895A>T (p.Thr299Ser)
c.643A>T (p.Thr215Ser)
n.916A>T
c.688A>T (p.Thr230Ser)
c.937A>T (p.Thr313Ser)
c.751A>T (p.Thr251Ser)
c.589A>T (p.Thr197Ser)
c.898A>T (p.Thr300Ser)
c.733A>T (p.Thr245Ser)
c.982A>T (p.Thr328Ser)
c.796A>T (p.Thr266Ser)
n.913A>T
13g.113118503C>ACA388785942F7c.830C>A (p.Thr277Asn)
c.896C>A (p.Thr299Asn)
c.644C>A (p.Thr215Asn)
n.917C>A
c.689C>A (p.Thr230Asn)
c.938C>A (p.Thr313Asn)
c.752C>A (p.Thr251Asn)
c.590C>A (p.Thr197Asn)
c.899C>A (p.Thr300Asn)
c.734C>A (p.Thr245Asn)
c.983C>A (p.Thr328Asn)
c.797C>A (p.Thr266Asn)
n.914C>A
 gnomAD v4
13g.113118503C=CA2120141955F7c.830C= (p.Thr277=)
c.896C= (p.Thr299=)
c.644C= (p.Thr215=)
n.917C=
c.689C= (p.Thr230=)
c.938C= (p.Thr313=)
c.752C= (p.Thr251=)
c.590C= (p.Thr197=)
c.899C= (p.Thr300=)
c.734C= (p.Thr245=)
c.983C= (p.Thr328=)
c.797C= (p.Thr266=)
n.914C=
13g.113118503C>GCA388785943F7c.830C>G (p.Thr277Ser)
c.896C>G (p.Thr299Ser)
c.644C>G (p.Thr215Ser)
n.917C>G
c.689C>G (p.Thr230Ser)
c.938C>G (p.Thr313Ser)
c.752C>G (p.Thr251Ser)
c.590C>G (p.Thr197Ser)
c.899C>G (p.Thr300Ser)
c.734C>G (p.Thr245Ser)
c.983C>G (p.Thr328Ser)
c.797C>G (p.Thr266Ser)
n.914C>G
13g.113118503C>TCA256461528F7c.830C>T (p.Thr277Ile)
c.896C>T (p.Thr299Ile)
c.644C>T (p.Thr215Ile)
n.917C>T
c.689C>T (p.Thr230Ile)
c.938C>T (p.Thr313Ile)
c.752C>T (p.Thr251Ile)
c.590C>T (p.Thr197Ile)
c.899C>T (p.Thr300Ile)
c.734C>T (p.Thr245Ile)
c.983C>T (p.Thr328Ile)
c.797C>T (p.Thr266Ile)
n.914C>T
 dbSNP
13g.113118504C>ACA485423865F7c.831C>A (p.Thr277=)
c.897C>A (p.Thr299=)
c.645C>A (p.Thr215=)
n.918C>A
c.690C>A (p.Thr230=)
c.939C>A (p.Thr313=)
c.753C>A (p.Thr251=)
c.591C>A (p.Thr197=)
c.900C>A (p.Thr300=)
c.735C>A (p.Thr245=)
c.984C>A (p.Thr328=)
c.798C>A (p.Thr266=)
n.915C>A
13g.113118504C>GCA485423866F7c.831C>G (p.Thr277=)
c.897C>G (p.Thr299=)
c.645C>G (p.Thr215=)
n.918C>G
c.690C>G (p.Thr230=)
c.939C>G (p.Thr313=)
c.753C>G (p.Thr251=)
c.591C>G (p.Thr197=)
c.900C>G (p.Thr300=)
c.735C>G (p.Thr245=)
c.984C>G (p.Thr328=)
c.798C>G (p.Thr266=)
n.915C>G
 gnomAD v4
13g.113118504C>TCA485423867F7c.831C>T (p.Thr277=)
c.897C>T (p.Thr299=)
c.645C>T (p.Thr215=)
n.918C>T
c.690C>T (p.Thr230=)
c.939C>T (p.Thr313=)
c.753C>T (p.Thr251=)
c.591C>T (p.Thr197=)
c.900C>T (p.Thr300=)
c.735C>T (p.Thr245=)
c.984C>T (p.Thr328=)
c.798C>T (p.Thr266=)
n.915C>T
13g.113118505A>CCA388785944F7c.832A>C (p.Asn278His)
c.898A>C (p.Asn300His)
c.646A>C (p.Asn216His)
n.919A>C
c.691A>C (p.Asn231His)
c.940A>C (p.Asn314His)
c.754A>C (p.Asn252His)
c.592A>C (p.Asn198His)
c.901A>C (p.Asn301His)
c.736A>C (p.Asn246His)
c.985A>C (p.Asn329His)
c.799A>C (p.Asn267His)
n.916A>C
13g.113118505A>GCA388785945F7c.832A>G (p.Asn278Asp)
c.898A>G (p.Asn300Asp)
c.646A>G (p.Asn216Asp)
n.919A>G
c.691A>G (p.Asn231Asp)
c.940A>G (p.Asn314Asp)
c.754A>G (p.Asn252Asp)
c.592A>G (p.Asn198Asp)
c.901A>G (p.Asn301Asp)
c.736A>G (p.Asn246Asp)
c.985A>G (p.Asn329Asp)
c.799A>G (p.Asn267Asp)
n.916A>G
13g.113118505A>TCA388785946F7c.832A>T (p.Asn278Tyr)
c.898A>T (p.Asn300Tyr)
c.646A>T (p.Asn216Tyr)
n.919A>T
c.691A>T (p.Asn231Tyr)
c.940A>T (p.Asn314Tyr)
c.754A>T (p.Asn252Tyr)
c.592A>T (p.Asn198Tyr)
c.901A>T (p.Asn301Tyr)
c.736A>T (p.Asn246Tyr)
c.985A>T (p.Asn329Tyr)
c.799A>T (p.Asn267Tyr)
n.916A>T
13g.113118506A>CCA388785949F7c.833A>C (p.Asn278Thr)
c.899A>C (p.Asn300Thr)
c.647A>C (p.Asn216Thr)
n.920A>C
c.692A>C (p.Asn231Thr)
c.941A>C (p.Asn314Thr)
c.755A>C (p.Asn252Thr)
c.593A>C (p.Asn198Thr)
c.902A>C (p.Asn301Thr)
c.737A>C (p.Asn246Thr)
c.986A>C (p.Asn329Thr)
c.800A>C (p.Asn267Thr)
n.917A>C
13g.113118506A>GCA388785948F7c.833A>G (p.Asn278Ser)
c.899A>G (p.Asn300Ser)
c.647A>G (p.Asn216Ser)
n.920A>G
c.692A>G (p.Asn231Ser)
c.941A>G (p.Asn314Ser)
c.755A>G (p.Asn252Ser)
c.593A>G (p.Asn198Ser)
c.902A>G (p.Asn301Ser)
c.737A>G (p.Asn246Ser)
c.986A>G (p.Asn329Ser)
c.800A>G (p.Asn267Ser)
n.917A>G
13g.113118506A>TCA388785947F7c.833A>T (p.Asn278Ile)
c.899A>T (p.Asn300Ile)
c.647A>T (p.Asn216Ile)
n.920A>T
c.692A>T (p.Asn231Ile)
c.941A>T (p.Asn314Ile)
c.755A>T (p.Asn252Ile)
c.593A>T (p.Asn198Ile)
c.902A>T (p.Asn301Ile)
c.737A>T (p.Asn246Ile)
c.986A>T (p.Asn329Ile)
c.800A>T (p.Asn267Ile)
n.917A>T
13g.113118507C>ACA388785950F7c.834C>A (p.Asn278Lys)
c.900C>A (p.Asn300Lys)
c.648C>A (p.Asn216Lys)
n.921C>A
c.693C>A (p.Asn231Lys)
c.942C>A (p.Asn314Lys)
c.756C>A (p.Asn252Lys)
c.594C>A (p.Asn198Lys)
c.903C>A (p.Asn301Lys)
c.738C>A (p.Asn246Lys)
c.987C>A (p.Asn329Lys)
c.801C>A (p.Asn267Lys)
n.918C>A
 dbSNP gnomAD v4
13g.113118507C=CA2120141959F7c.834C= (p.Asn278=)
c.900C= (p.Asn300=)
c.648C= (p.Asn216=)
n.921C=
c.693C= (p.Asn231=)
c.942C= (p.Asn314=)
c.756C= (p.Asn252=)
c.594C= (p.Asn198=)
c.903C= (p.Asn301=)
c.738C= (p.Asn246=)
c.987C= (p.Asn329=)
c.801C= (p.Asn267=)
n.918C=
13g.113118507C>GCA388785951F7c.834C>G (p.Asn278Lys)
c.900C>G (p.Asn300Lys)
c.648C>G (p.Asn216Lys)
n.921C>G
c.693C>G (p.Asn231Lys)
c.942C>G (p.Asn314Lys)
c.756C>G (p.Asn252Lys)
c.594C>G (p.Asn198Lys)
c.903C>G (p.Asn301Lys)
c.738C>G (p.Asn246Lys)
c.987C>G (p.Asn329Lys)
c.801C>G (p.Asn267Lys)
n.918C>G
13g.113118507C>TCA485423868F7c.834C>T (p.Asn278=)
c.900C>T (p.Asn300=)
c.648C>T (p.Asn216=)
n.921C>T
c.693C>T (p.Asn231=)
c.942C>T (p.Asn314=)
c.756C>T (p.Asn252=)
c.594C>T (p.Asn198=)
c.903C>T (p.Asn301=)
c.738C>T (p.Asn246=)
c.987C>T (p.Asn329=)
c.801C>T (p.Asn267=)
n.918C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113118508C>ACA388785952F7c.835C>A (p.His279Asn)
c.901C>A (p.His301Asn)
c.649C>A (p.His217Asn)
n.922C>A
c.694C>A (p.His232Asn)
c.943C>A (p.His315Asn)
c.757C>A (p.His253Asn)
c.595C>A (p.His199Asn)
c.904C>A (p.His302Asn)
c.739C>A (p.His247Asn)
c.988C>A (p.His330Asn)
c.802C>A (p.His268Asn)
n.919C>A
13g.113118508C=CA2120141964F7c.835C= (p.His279=)
c.901C= (p.His301=)
c.649C= (p.His217=)
n.922C=
c.694C= (p.His232=)
c.943C= (p.His315=)
c.757C= (p.His253=)
c.595C= (p.His199=)
c.904C= (p.His302=)
c.739C= (p.His247=)
c.988C= (p.His330=)
c.802C= (p.His268=)
n.919C=
13g.113118508C>GCA388785953F7c.835C>G (p.His279Asp)
c.901C>G (p.His301Asp)
c.649C>G (p.His217Asp)
n.922C>G
c.694C>G (p.His232Asp)
c.943C>G (p.His315Asp)
c.757C>G (p.His253Asp)
c.595C>G (p.His199Asp)
c.904C>G (p.His302Asp)
c.739C>G (p.His247Asp)
c.988C>G (p.His330Asp)
c.802C>G (p.His268Asp)
n.919C>G
13g.113118508C>TCA7060160F7c.835C>T (p.His279Tyr)
c.901C>T (p.His301Tyr)
c.649C>T (p.His217Tyr)
n.922C>T
c.694C>T (p.His232Tyr)
c.943C>T (p.His315Tyr)
c.757C>T (p.His253Tyr)
c.595C>T (p.His199Tyr)
c.904C>T (p.His302Tyr)
c.739C>T (p.His247Tyr)
c.988C>T (p.His330Tyr)
c.802C>T (p.His268Tyr)
n.919C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118509A>CCA388785954F7c.836A>C (p.His279Pro)
c.902A>C (p.His301Pro)
c.650A>C (p.His217Pro)
n.923A>C
c.695A>C (p.His232Pro)
c.944A>C (p.His315Pro)
c.758A>C (p.His253Pro)
c.596A>C (p.His199Pro)
c.905A>C (p.His302Pro)
c.740A>C (p.His247Pro)
c.989A>C (p.His330Pro)
c.803A>C (p.His268Pro)
n.920A>C
13g.113118509A>GCA388785955F7c.836A>G (p.His279Arg)
c.902A>G (p.His301Arg)
c.650A>G (p.His217Arg)
n.923A>G
c.695A>G (p.His232Arg)
c.944A>G (p.His315Arg)
c.758A>G (p.His253Arg)
c.596A>G (p.His199Arg)
c.905A>G (p.His302Arg)
c.740A>G (p.His247Arg)
c.989A>G (p.His330Arg)
c.803A>G (p.His268Arg)
n.920A>G
13g.113118509A>TCA388785956F7c.836A>T (p.His279Leu)
c.902A>T (p.His301Leu)
c.650A>T (p.His217Leu)
n.923A>T
c.695A>T (p.His232Leu)
c.944A>T (p.His315Leu)
c.758A>T (p.His253Leu)
c.596A>T (p.His199Leu)
c.905A>T (p.His302Leu)
c.740A>T (p.His247Leu)
c.989A>T (p.His330Leu)
c.803A>T (p.His268Leu)
n.920A>T
13g.113118510C>ACA388785957F7c.837C>A (p.His279Gln)
c.903C>A (p.His301Gln)
c.651C>A (p.His217Gln)
n.924C>A
c.696C>A (p.His232Gln)
c.945C>A (p.His315Gln)
c.759C>A (p.His253Gln)
c.597C>A (p.His199Gln)
c.906C>A (p.His302Gln)
c.741C>A (p.His247Gln)
c.990C>A (p.His330Gln)
c.804C>A (p.His268Gln)
n.921C>A
13g.113118510C=CA2120141969F7c.837C= (p.His279=)
c.903C= (p.His301=)
c.651C= (p.His217=)
n.924C=
c.696C= (p.His232=)
c.945C= (p.His315=)
c.759C= (p.His253=)
c.597C= (p.His199=)
c.906C= (p.His302=)
c.741C= (p.His247=)
c.990C= (p.His330=)
c.804C= (p.His268=)
n.921C=
13g.113118510C>GCA388785958F7c.837C>G (p.His279Gln)
c.903C>G (p.His301Gln)
c.651C>G (p.His217Gln)
n.924C>G
c.696C>G (p.His232Gln)
c.945C>G (p.His315Gln)
c.759C>G (p.His253Gln)
c.597C>G (p.His199Gln)
c.906C>G (p.His302Gln)
c.741C>G (p.His247Gln)
c.990C>G (p.His330Gln)
c.804C>G (p.His268Gln)
n.921C>G
13g.113118510C>TCA7060161F7c.837C>T (p.His279=)
c.903C>T (p.His301=)
c.651C>T (p.His217=)
n.924C>T
c.696C>T (p.His232=)
c.945C>T (p.His315=)
c.759C>T (p.His253=)
c.597C>T (p.His199=)
c.906C>T (p.His302=)
c.741C>T (p.His247=)
c.990C>T (p.His330=)
c.804C>T (p.His268=)
n.921C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113118511G>ACA7060162F7c.838G>A (p.Asp280Asn)
c.904G>A (p.Asp302Asn)
c.652G>A (p.Asp218Asn)
n.925G>A
c.697G>A (p.Asp233Asn)
c.946G>A (p.Asp316Asn)
c.760G>A (p.Asp254Asn)
c.598G>A (p.Asp200Asn)
c.907G>A (p.Asp303Asn)
c.742G>A (p.Asp248Asn)
c.991G>A (p.Asp331Asn)
c.805G>A (p.Asp269Asn)
n.922G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113118511G>CCA388785959F7c.838G>C (p.Asp280His)
c.904G>C (p.Asp302His)
c.652G>C (p.Asp218His)
n.925G>C
c.697G>C (p.Asp233His)
c.946G>C (p.Asp316His)
c.760G>C (p.Asp254His)
c.598G>C (p.Asp200His)
c.907G>C (p.Asp303His)
c.742G>C (p.Asp248His)
c.991G>C (p.Asp331His)
c.805G>C (p.Asp269His)
n.922G>C
 gnomAD v4
13g.113118511G=CA2120141972F7c.838G= (p.Asp280=)
c.904G= (p.Asp302=)
c.652G= (p.Asp218=)
n.925G=
c.697G= (p.Asp233=)
c.946G= (p.Asp316=)
c.760G= (p.Asp254=)
c.598G= (p.Asp200=)
c.907G= (p.Asp303=)
c.742G= (p.Asp248=)
c.991G= (p.Asp331=)
c.805G= (p.Asp269=)
n.922G=
13g.113118511G>TCA388785960F7c.838G>T (p.Asp280Tyr)
c.904G>T (p.Asp302Tyr)
c.652G>T (p.Asp218Tyr)
n.925G>T
c.697G>T (p.Asp233Tyr)
c.946G>T (p.Asp316Tyr)
c.760G>T (p.Asp254Tyr)
c.598G>T (p.Asp200Tyr)
c.907G>T (p.Asp303Tyr)
c.742G>T (p.Asp248Tyr)
c.991G>T (p.Asp331Tyr)
c.805G>T (p.Asp269Tyr)
n.922G>T

Number of alleles fetched