Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.48381206_48381209delinsTTAACA2089972164RB1c.1499-41_1499-38delinsTTAA (n.1499-41_1499-38delinsTTAA)
c.1238-41_1238-38delinsTTAA (n.1238-41_1238-38delinsTTAA)
13g.48381209_48381211delCA609929331RB1c.1499-38_1499-36del (n.1499-38_1499-36del)
c.1238-38_1238-36del (n.1238-38_1238-36del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48381209A=CA2089972167RB1c.1499-38A= (n.1499-38A=)
c.1238-38A= (n.1238-38A=)
13g.48381209A>GCA609929332RB1c.1499-38A>G (n.1499-38A>G)
c.1238-38A>G (n.1238-38A>G)
 dbSNP gnomAD v2 gnomAD v4
13g.48381209A>TCA029033RB1c.1499-38A>T (n.1499-38A>T)
c.1238-38A>T (n.1238-38A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.48381211A=CA2089972171RB1c.1499-36A= (n.1499-36A=)
c.1238-36A= (n.1238-36A=)
13g.48381211A>CCA2089972172RB1c.1499-36A>C (n.1499-36A>C)
c.1238-36A>C (n.1238-36A>C)
 dbSNP
13g.48381211A>TCA2727891243RB1c.1499-36A>T (n.1499-36A>T)
c.1238-36A>T (n.1238-36A>T)
 dbSNP
13g.48381213T>ACA2728034217RB1c.1499-34T>A (n.1499-34T>A)
c.1238-34T>A (n.1238-34T>A)
 dbSNP
13g.48381213T>CCA2728034225RB1c.1499-34T>C (n.1499-34T>C)
c.1238-34T>C (n.1238-34T>C)
 dbSNP
13g.48381213T>GCA2622981508RB1c.1499-34T>G (n.1499-34T>G)
c.1238-34T>G (n.1238-34T>G)
 gnomAD v4
13g.48381215C>ACA2622981510RB1c.1499-32C>A (n.1499-32C>A)
c.1238-32C>A (n.1238-32C>A)
 gnomAD v4
13g.48381215C>GCA2728034228RB1c.1499-32C>G (n.1499-32C>G)
c.1238-32C>G (n.1238-32C>G)
 dbSNP
13g.48381215C>TCA2622981509RB1c.1499-32C>T (n.1499-32C>T)
c.1238-32C>T (n.1238-32C>T)
 dbSNP gnomAD v4
13g.48381216A=CA2089972174RB1c.1499-31A= (n.1499-31A=)
c.1238-31A= (n.1238-31A=)
13g.48381216A>GCA2622981512RB1c.1499-31A>G (n.1499-31A>G)
c.1238-31A>G (n.1238-31A>G)
 gnomAD v4
13g.48381216A>TCA029029RB1c.1499-31A>T (n.1499-31A>T)
c.1238-31A>T (n.1238-31A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48381219_48381222delCA2622981511RB1c.1499-28_1499-25del (n.1499-28_1499-25del)
c.1238-28_1238-25del (n.1238-28_1238-25del)
 gnomAD v4
13g.48381218A>TCA2728034229RB1c.1499-29A>T (n.1499-29A>T)
c.1238-29A>T (n.1238-29A>T)
 dbSNP
13g.48381220A>TCA2728034231RB1c.1499-27A>T (n.1499-27A>T)
c.1238-27A>T (n.1238-27A>T)
 dbSNP
13g.48381221T>ACA2089972177RB1c.1499-26T>A (n.1499-26T>A)
c.1238-26T>A (n.1238-26T>A)
 dbSNP gnomAD v4
13g.48381221T>CCA698675671RB1c.1499-26T>C (n.1499-26T>C)
c.1238-26T>C (n.1238-26T>C)
 dbSNP gnomAD v4
13g.48381221T=CA2089972176RB1c.1499-26T= (n.1499-26T=)
c.1238-26T= (n.1238-26T=)
13g.48381222A>GCA2575413539RB1c.1499-25A>G (n.1499-25A>G)
c.1238-25A>G (n.1238-25A>G)
13g.48381222A>TCA2728034232RB1c.1499-25A>T (n.1499-25A>T)
c.1238-25A>T (n.1238-25A>T)
 dbSNP
13g.48381223G>ACA609929333RB1c.1499-24G>A (n.1499-24G>A)
c.1238-24G>A (n.1238-24G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48381223G>CCA2727865410RB1c.1499-24G>C (n.1499-24G>C)
c.1238-24G>C (n.1238-24G>C)
 dbSNP
13g.48381223G=CA2089972179RB1c.1499-24G= (n.1499-24G=)
c.1238-24G= (n.1238-24G=)
13g.48381223G>TCA2575413540RB1c.1499-24G>T (n.1499-24G>T)
c.1238-24G>T (n.1238-24G>T)
 dbSNP gnomAD v4
13g.48381224T>ACA2728034344RB1c.1499-23T>A (n.1499-23T>A)
c.1238-23T>A (n.1238-23T>A)
 dbSNP
13g.48381226_48381229delCA2622981513RB1c.1499-21_1499-18del (n.1499-21_1499-18del)
c.1238-21_1238-18del (n.1238-21_1238-18del)
 gnomAD v4
13g.48381225T>ACA2728034346RB1c.1499-22T>A (n.1499-22T>A)
c.1238-22T>A (n.1238-22T>A)
 dbSNP
13g.48381226_48381228delCA2697551853RB1c.1499-21_1499-19del (n.1499-21_1499-19del)
c.1238-21_1238-19del (n.1238-21_1238-19del)
 ClinVar
13g.48381227C>ACA2622981514RB1c.1499-20C>A (n.1499-20C>A)
c.1238-20C>A (n.1238-20C>A)
 gnomAD v4
13g.48381227_48381228delinsCTCA2089972180RB1c.1499-20_1499-19delinsCT (n.1499-20_1499-19delinsCT)
c.1238-20_1238-19delinsCT (n.1238-20_1238-19delinsCT)
13g.48381227_48381228insACA2622981521RB1c.1499-20_1499-19insA (n.1499-20_1499-19insA)
c.1238-20_1238-19insA (n.1238-20_1238-19insA)
 gnomAD v4
13g.48381228T>ACA609929335RB1c.1499-19T>A (n.1499-19T>A)
c.1238-19T>A (n.1238-19T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.48381228T>CCA2573149613RB1c.1499-19T>C (n.1499-19T>C)
c.1238-19T>C (n.1238-19T>C)
 ClinVar dbSNP gnomAD v4
13g.48381228T=CA2089972194RB1c.1499-19T= (n.1499-19T=)
c.1238-19T= (n.1238-19T=)
13g.48381237_48381238insTTTTTTTTTTTTTCA2622981518RB1c.1499-10_1499-9insTTTTTTTTTTTTT (n.1499-10_1499-9insTTTTTTTTTTTTT)
c.1238-10_1238-9insTTTTTTTTTTTTT (n.1238-10_1238-9insTTTTTTTTTTTTT)
 gnomAD v4
13g.48381237_48381238insTTTTTTTTTTTTTTTCA2622981522RB1c.1499-10_1499-9insTTTTTTTTTTTTTTT (n.1499-10_1499-9insTTTTTTTTTTTTTTT)
c.1238-10_1238-9insTTTTTTTTTTTTTTT (n.1238-10_1238-9insTTTTTTTTTTTTTTT)
 gnomAD v4
13g.48381237_48381238insTTTTTTTTTTTTTTTTTTTTTCA919267022RB1c.1499-10_1499-9insTTTTTTTTTTTTTTTTTTTTT (n.1499-10_1499-9insTTTTTTTTTTTTTTTTTTTTT)
c.1238-10_1238-9insTTTTTTTTTTTTTTTTTTTTT (n.1238-10_1238-9insTTTTTTTTTTTTTTTTTTTTT)
 dbSNP
13g.48381237_48381238insTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2799118562RB1c.1499-10_1499-9insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1499-10_1499-9insTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1238-10_1238-9insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1238-10_1238-9insTTTTTTTTTTTTTTTTTTTTTTTTTTT)
13g.48381237_48381238insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA2622981517RB1c.1499-10_1499-9insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1499-10_1499-9insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1238-10_1238-9insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1238-10_1238-9insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 gnomAD v4
13g.48381237dupCA6978898RB1c.1499-10dup (n.1499-10dup)
c.1238-10dup (n.1238-10dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48381236_48381237dupCA2530626374RB1c.1499-11_1499-10dup (n.1499-11_1499-10dup)
c.1238-11_1238-10dup (n.1238-11_1238-10dup)
 gnomAD v4
13g.48381235_48381237dupCA2622981516RB1c.1499-12_1499-10dup (n.1499-12_1499-10dup)
c.1238-12_1238-10dup (n.1238-12_1238-10dup)
 gnomAD v4
13g.48381232_48381237dupCA2622981520RB1c.1499-15_1499-10dup (n.1499-15_1499-10dup)
c.1238-15_1238-10dup (n.1238-15_1238-10dup)
 gnomAD v4
13g.48381231_48381237dupCA2799118563RB1c.1499-16_1499-10dup (n.1499-16_1499-10dup)
c.1238-16_1238-10dup (n.1238-16_1238-10dup)
13g.48381228_48381237dupCA2622981519RB1c.1499-19_1499-10dup (n.1499-19_1499-10dup)
c.1238-19_1238-10dup (n.1238-19_1238-10dup)
 gnomAD v4
13g.48381237delCA029009RB1c.1499-10del (n.1499-10del)
c.1238-10del (n.1238-10del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
13g.48381236_48381237delCA609929334RB1c.1499-11_1499-10del (n.1499-11_1499-10del)
c.1238-11_1238-10del (n.1238-11_1238-10del)
 ClinVar gnomAD v2 gnomAD v3 gnomAD v4
13g.48381235_48381237delCA2622981515RB1c.1499-12_1499-10del (n.1499-12_1499-10del)
c.1238-12_1238-10del (n.1238-12_1238-10del)
 gnomAD v4
13g.48381229T>ACA2580087601RB1c.1499-18T>A (n.1499-18T>A)
c.1238-18T>A (n.1238-18T>A)
 ClinVar
13g.48381229T>CCA2727855523RB1c.1499-18T>C (n.1499-18T>C)
c.1238-18T>C (n.1238-18T>C)
 dbSNP
13g.48381229T>GCA698675680RB1c.1499-18T>G (n.1499-18T>G)
c.1238-18T>G (n.1238-18T>G)
 dbSNP
13g.48381229T=CA2089972198RB1c.1499-18T= (n.1499-18T=)
c.1238-18T= (n.1238-18T=)
13g.48381230T>CCA955795708RB1c.1499-17T>C (n.1499-17T>C)
c.1238-17T>C (n.1238-17T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48381230T=CA2089972201RB1c.1499-17T= (n.1499-17T=)
c.1238-17T= (n.1238-17T=)
13g.48381232T>CCA2622981523RB1c.1499-15T>C (n.1499-15T>C)
c.1238-15T>C (n.1238-15T>C)
 gnomAD v4
13g.48381234T>GCA2622981524RB1c.1499-13T>G (n.1499-13T>G)
c.1238-13T>G (n.1238-13T>G)
 gnomAD v4
13g.48381235T>CCA2728034347RB1c.1499-12T>C (n.1499-12T>C)
c.1238-12T>C (n.1238-12T>C)
 dbSNP
13g.48381236T>CCA2622981525RB1c.1499-11T>C (n.1499-11T>C)
c.1238-11T>C (n.1238-11T>C)
 gnomAD v4
13g.48381237T>ACA2727841473RB1c.1499-10T>A (n.1499-10T>A)
c.1238-10T>A (n.1238-10T>A)
 dbSNP
13g.48381237T>CCA028997RB1c.1499-10T>C (n.1499-10T>C)
c.1238-10T>C (n.1238-10T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.48381237T=CA2089972204RB1c.1499-10T= (n.1499-10T=)
c.1238-10T= (n.1238-10T=)
13g.48381237_48381238delinsTCCA2089972207RB1c.1499-10_1499-9delinsTC (n.1499-10_1499-9delinsTC)
c.1238-10_1238-9delinsTC (n.1238-10_1238-9delinsTC)
13g.48381237_48381239delinsTCACA2089972206RB1c.1499-10_1499-8delinsTCA (n.1499-10_1499-8delinsTCA)
c.1238-10_1238-8delinsTCA (n.1238-10_1238-8delinsTCA)
13g.48381238delCA609929337RB1c.1499-9del (n.1499-9del)
c.1238-9del (n.1238-9del)
 dbSNP gnomAD v2 gnomAD v4
13g.48381238C>ACA249281900RB1c.1499-9C>A (n.1499-9C>A)
c.1238-9C>A (n.1238-9C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48381238C=CA2089972213RB1c.1499-9C= (n.1499-9C=)
c.1238-9C= (n.1238-9C=)
13g.48381238C>GCA2622981526RB1c.1499-9C>G (n.1499-9C>G)
c.1238-9C>G (n.1238-9C>G)
 dbSNP gnomAD v4
13g.48381238C>TCA609929338RB1c.1499-9C>T (n.1499-9C>T)
c.1238-9C>T (n.1238-9C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48381238_48381239delCA609929336RB1c.1499-9_1499-8del (n.1499-9_1499-8del)
c.1238-9_1238-8del (n.1238-9_1238-8del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48381239A=CA2089972219RB1c.1499-8A= (n.1499-8A=)
c.1238-8A= (n.1238-8A=)
13g.48381239A>GCA955795722RB1c.1499-8A>G (n.1499-8A>G)
c.1238-8A>G (n.1238-8A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48381239A>TCA609929339RB1c.1499-8A>T (n.1499-8A>T)
c.1238-8A>T (n.1238-8A>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48381240T>CCA609929342RB1c.1499-7T>C (n.1499-7T>C)
c.1238-7T>C (n.1238-7T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.48381240T=CA2089972234RB1c.1499-7T= (n.1499-7T=)
c.1238-7T= (n.1238-7T=)
13g.48381244_48381245insTTTTTTCA609929341RB1c.1499-3_1499-2insTTTTTT (n.1499-3_1499-2insTTTTTT)
c.1238-3_1238-2insTTTTTT (n.1238-3_1238-2insTTTTTT)
 dbSNP gnomAD v2
13g.48381244_48381245insTTTTTTTTTCA609929340RB1c.1499-3_1499-2insTTTTTTTTT (n.1499-3_1499-2insTTTTTTTTT)
c.1238-3_1238-2insTTTTTTTTT (n.1238-3_1238-2insTTTTTTTTT)
 dbSNP gnomAD v2
13g.48381244_48381245insTTTTTTTTTTTTTTTTCA609929347RB1c.1499-3_1499-2insTTTTTTTTTTTTTTTT (n.1499-3_1499-2insTTTTTTTTTTTTTTTT)
c.1238-3_1238-2insTTTTTTTTTTTTTTTT (n.1238-3_1238-2insTTTTTTTTTTTTTTTT)
 dbSNP gnomAD v2
13g.48381244_48381245insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA609929345RB1c.1499-3_1499-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1499-3_1499-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
c.1238-3_1238-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1238-3_1238-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)
 dbSNP gnomAD v2
13g.48381242_48381244dupCA609929344RB1c.1499-5_1499-3dup (n.1499-5_1499-3dup)
c.1238-5_1238-3dup (n.1238-5_1238-3dup)
 dbSNP gnomAD v2
13g.48381240_48381244dupCA609929346RB1c.1499-7_1499-3dup (n.1499-7_1499-3dup)
c.1238-7_1238-3dup (n.1238-7_1238-3dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48381241T>ACA609929348RB1c.1499-6T>A (n.1499-6T>A)
c.1238-6T>A (n.1238-6T>A)
 dbSNP gnomAD v2 gnomAD v4
13g.48381241T>CCA2739277608RB1c.1499-6T>C (n.1499-6T>C)
c.1238-6T>C (n.1238-6T>C)
 ClinVar
13g.48381241T=CA2089972238RB1c.1499-6T= (n.1499-6T=)
c.1238-6T= (n.1238-6T=)
13g.48381243T>CCA2622981527RB1c.1499-4T>C (n.1499-4T>C)
c.1238-4T>C (n.1238-4T>C)
 gnomAD v4
13g.48381244_48381245insTTTTTACA2799118564RB1c.1499-3_1499-2insTTTTTA (n.1499-3_1499-2insTTTTTA)
c.1238-3_1238-2insTTTTTA (n.1238-3_1238-2insTTTTTA)
13g.48381245A=CA2089972247RB1c.1499-2A= (n.1499-2A=)
c.1238-2A= (n.1238-2A=)
13g.48381245A>CCA388163245RB1c.1499-2A>C (n.1499-2A>C)
c.1238-2A>C (n.1238-2A>C)
 ClinVar dbSNP COSMIC
13g.48381245A>GCA388163247RB1c.1499-2A>G (n.1499-2A>G)
c.1238-2A>G (n.1238-2A>G)
 COSMIC COSMIC
13g.48381245A>TCA388163249RB1c.1499-2A>T (n.1499-2A>T)
c.1238-2A>T (n.1238-2A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48381245_48381246delCA2622981528RB1c.1499-2_1499-1del (n.1499-2_1499-1del)
c.1238-2_1238-1del (n.1238-2_1238-1del)
 gnomAD v4
13g.48381245_48381250delCA2622981529RB1c.1499-2_1502del
c.1238-2_1241del
 gnomAD v4
13g.48381247_48381250delCA955795738RB1c.1499_1502del
c.1238_1241del
 gnomAD v4
13g.48381245_48381254delCA2799118565RB1c.1499-2_1506del
c.1238-2_1245del
13g.48381246G>ACA388163251RB1c.1499-1G>A (n.1499-1G>A)
c.1238-1G>A (n.1238-1G>A)
 dbSNP gnomAD v2 gnomAD v4
13g.48381246G>CCA388163253RB1c.1499-1G>C (n.1499-1G>C)
c.1238-1G>C (n.1238-1G>C)
 dbSNP COSMIC COSMIC
13g.48381246G=CA2089972256RB1c.1499-1G= (n.1499-1G=)
c.1238-1G= (n.1238-1G=)
13g.48381246G>TCA388163255RB1c.1499-1G>T (n.1499-1G>T)
c.1238-1G>T (n.1238-1G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.48381246_48381259delinsGGAAGTACATCTCACA2089972255RB1c.1499-1_1511delinsGGAAGTACATCTCA
c.1238-1_1250delinsGGAAGTACATCTCA
13g.48381247G>ACA388163257RB1c.1499G>A (p.Arg500Lys)
c.1238G>A (p.Arg413Lys)
 dbSNP
13g.48381247G>CCA388163258RB1c.1499G>C (p.Arg500Thr)
c.1238G>C (p.Arg413Thr)
 dbSNP
13g.48381247G=CA2089972265RB1c.1499G= (p.Arg500=)
c.1238G= (p.Arg413=)
13g.48381247G>TCA388163256RB1c.1499G>T (p.Arg500Ile)
c.1238G>T (p.Arg413Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48381250_48381262delCA645369594RB1c.1502_1514del (p.Ser501IlefsTer14)
c.1241_1253del (p.Ser414IlefsTer14)
 ClinVar dbSNP
13g.48381248_48381444delCA645578673RB1c.1500_1695+1del
c.1239_1434+1del
 COSMIC
13g.48381248A=CA2089972269RB1c.1500A= (p.Arg500=)
c.1239A= (p.Arg413=)
13g.48381248A>CCA388163261RB1c.1500A>C (p.Arg500Ser)
c.1239A>C (p.Arg413Ser)
 ClinVar dbSNP gnomAD v4
13g.48381248A>GCA483559382RB1c.1500A>G (p.Arg500=)
c.1239A>G (p.Arg413=)
13g.48381248A>TCA388163262RB1c.1500A>T (p.Arg500Ser)
c.1239A>T (p.Arg413Ser)
 dbSNP
13g.48381249delCA2695218490RB1c.1501del (p.Ser501ValfsTer18)
c.1240del (p.Ser414ValfsTer18)
13g.48381249A>CCA388163264RB1c.1501A>C (p.Ser501Arg)
c.1240A>C (p.Ser414Arg)
13g.48381249A>GCA388163265RB1c.1501A>G (p.Ser501Gly)
c.1240A>G (p.Ser414Gly)
13g.48381249A>TCA388163266RB1c.1501A>T (p.Ser501Cys)
c.1240A>T (p.Ser414Cys)
 dbSNP
13g.48381250G>ACA388163271RB1c.1502G>A (p.Ser501Asn)
c.1G>A
c.1241G>A (p.Ser414Asn)
 ClinVar dbSNP gnomAD v4
13g.48381250G>CCA388163268RB1c.1502G>C (p.Ser501Thr)
c.1G>C
c.1241G>C (p.Ser414Thr)
 dbSNP
13g.48381250G>TCA388163270RB1c.1502G>T (p.Ser501Ile)
c.1G>T
c.1241G>T (p.Ser414Ile)
 dbSNP gnomAD v4
13g.48381251T>ACA388163274RB1c.1503T>A (p.Ser501Arg)
c.2T>A
c.1242T>A (p.Ser414Arg)
 dbSNP
13g.48381251T>CCA483559386RB1c.1503T>C (p.Ser501=)
c.2T>C
c.1242T>C (p.Ser414=)
 ClinVar dbSNP gnomAD v4
13g.48381251T>GCA388163276RB1c.1503T>G (p.Ser501Arg)
c.2T>G
c.1242T>G (p.Ser414Arg)
 dbSNP
13g.48381252A>CCA388163278RB1c.1504A>C (p.Thr502Pro)
c.3A>C
c.1243A>C (p.Thr415Pro)
 dbSNP
13g.48381252A>GCA388163280RB1c.1504A>G (p.Thr502Ala)
c.3A>G
c.1243A>G (p.Thr415Ala)
 ClinVar dbSNP COSMIC COSMIC
13g.48381252A>TCA388163282RB1c.1504A>T (p.Thr502Ser)
c.3A>T
c.1243A>T (p.Thr415Ser)
 dbSNP
13g.48381252_48381258delinsTCTCAAGAATCTCAAGAATCACA645578674RB1c.1504_1510delinsTCTCAAGAATCTCAAGAATCA (p.Thr502SerfsTer22)
c.3_9delinsTCTCAAGAATCTCAAGAATCA
c.1243_1249delinsTCTCAAGAATCTCAAGAATCA (p.Thr415SerfsTer22)
 COSMIC
13g.48381253delCA645578675RB1c.1505del (p.Thr502AsnfsTer17)
c.4del
c.1244del (p.Thr415AsnfsTer17)
 COSMIC COSMIC
13g.48381253C>ACA388163283RB1c.1505C>A (p.Thr502Lys)
c.4C>A
c.1244C>A (p.Thr415Lys)
 gnomAD v4
13g.48381253C=CA2089972277RB1c.1505C= (p.Thr502=)
c.4C=
c.1244C= (p.Thr415=)
13g.48381253C>GCA388163284RB1c.1505C>G (p.Thr502Arg)
c.4C>G
c.1244C>G (p.Thr415Arg)
 dbSNP
13g.48381253C>TCA029053RB1c.1505C>T (p.Thr502Ile)
c.4C>T
c.1244C>T (p.Thr415Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48381254A=CA2089972283RB1c.1506A= (p.Thr502=)
c.5A=
c.1245A= (p.Thr415=)
13g.48381254A>CCA483559388RB1c.1506A>C (p.Thr502=)
c.5A>C
c.1245A>C (p.Thr415=)
13g.48381254A>GCA16614051RB1c.1506A>G (p.Thr502=)
c.5A>G
c.1245A>G (p.Thr415=)
 ClinVar dbSNP gnomAD v4
13g.48381254A>TCA483559389RB1c.1506A>T (p.Thr502=)
c.5A>T
c.1245A>T (p.Thr415=)
 dbSNP
13g.48381255T>ACA388163287RB1c.1507T>A (p.Ser503Thr)
c.6T>A
c.1246T>A (p.Ser416Thr)
 dbSNP
13g.48381255T>CCA388163288RB1c.1507T>C (p.Ser503Pro)
c.6T>C
c.1246T>C (p.Ser416Pro)
13g.48381255T>GCA388163291RB1c.1507T>G (p.Ser503Ala)
c.6T>G
c.1246T>G (p.Ser416Ala)
13g.48381255_48381256insTTTTTTTTTTCA2799118566RB1c.1507_1508insTTTTTTTTTT (p.Ser503PhefsTer8)
c.6_7insTTTTTTTTTT
c.1246_1247insTTTTTTTTTT (p.Ser416PhefsTer8)
13g.48381256delCA2728035071RB1c.1508del (p.Ser503PhefsTer16)
c.7del
c.1247del (p.Ser416PhefsTer16)
 dbSNP
13g.48381256C>ACA388163293RB1c.1508C>A (p.Ser503Tyr)
c.7C>A
c.1247C>A (p.Ser416Tyr)
 dbSNP
13g.48381256C>GCA388163295RB1c.1508C>G (p.Ser503Cys)
c.7C>G
c.1247C>G (p.Ser416Cys)
 dbSNP
13g.48381256C>TCA388163297RB1c.1508C>T (p.Ser503Phe)
c.7C>T
c.1247C>T (p.Ser416Phe)
 dbSNP
13g.48381257T>ACA483559391RB1c.1509T>A (p.Ser503=)
c.8T>A
c.1248T>A (p.Ser416=)
 dbSNP
13g.48381257T>CCA483559392RB1c.1509T>C (p.Ser503=)
c.8T>C
c.1248T>C (p.Ser416=)
 dbSNP
13g.48381257T>GCA483559393RB1c.1509T>G (p.Ser503=)
c.8T>G
c.1248T>G (p.Ser416=)
13g.48381258delCA2499222452RB1c.1510del (p.Gln504ArgfsTer15)
c.9del
c.1249del (p.Gln417ArgfsTer15)
 ClinVar dbSNP
13g.48381258C>ACA388163299RB1c.1510C>A (p.Gln504Lys)
c.9C>A
c.1249C>A (p.Gln417Lys)
 dbSNP gnomAD v4
13g.48381258C=CA2089972289RB1c.1510C= (p.Gln504=)
c.9C=
c.1249C= (p.Gln417=)
13g.48381258C>GCA388163301RB1c.1510C>G (p.Gln504Glu)
c.9C>G
c.1249C>G (p.Gln417Glu)
 dbSNP
13g.48381258C>TCA10605288RB1c.1510C>T (p.Gln504Ter)
c.9C>T
c.1249C>T (p.Gln417Ter)
 ClinVar dbSNP COSMIC COSMIC
13g.48381258_48381260delinsCAGCA2089972293RB1c.1510_1512delinsCAG (p.Gln504=)
c.9_11delinsCAG
c.1249_1251delinsCAG (p.Gln417=)
13g.48381258_48381262delCA2799118567RB1c.1510_1514del (p.Gln504SerfsTer2)
c.9_13del
c.1249_1253del (p.Gln417SerfsTer2)
13g.48381259A=CA2089972296RB1c.1511A= (p.Gln504=)
c.10A=
c.1250A= (p.Gln417=)
13g.48381259A>CCA388163303RB1c.1511A>C (p.Gln504Pro)
c.10A>C
c.1250A>C (p.Gln417Pro)
13g.48381259A>GCA388163304RB1c.1511A>G (p.Gln504Arg)
c.10A>G
c.1250A>G (p.Gln417Arg)
13g.48381259A>TCA249281910RB1c.1511A>T (p.Gln504Leu)
c.10A>T
c.1250A>T (p.Gln417Leu)
 dbSNP
13g.48381260_48381261delCA915948554RB1c.1512_1513del (p.Asn505SerfsTer2)
c.11_12del
c.1251_1252del (p.Asn418SerfsTer2)
 ClinVar dbSNP
13g.48381260G>ACA249281914RB1c.1512G>A (p.Gln504=)
c.11G>A
c.1251G>A (p.Gln417=)
 dbSNP
13g.48381260G>CCA388163308RB1c.1512G>C (p.Gln504His)
c.11G>C
c.1251G>C (p.Gln417His)
 dbSNP
13g.48381260G=CA2089972299RB1c.1512G= (p.Gln504=)
c.11G=
c.1251G= (p.Gln417=)
13g.48381260G>TCA388163307RB1c.1512G>T (p.Gln504His)
c.11G>T
c.1251G>T (p.Gln417His)
 dbSNP gnomAD v4
13g.48381261A>CCA388163312RB1c.1513A>C (p.Asn505His)
c.12A>C
c.1252A>C (p.Asn418His)
13g.48381261A>GCA388163311RB1c.1513A>G (p.Asn505Asp)
c.12A>G
c.1252A>G (p.Asn418Asp)
13g.48381261A>TCA388163313RB1c.1513A>T (p.Asn505Tyr)
c.12A>T
c.1252A>T (p.Asn418Tyr)
 dbSNP
13g.48381262A=CA2089972305RB1c.1514A= (p.Asn505=)
c.13A=
c.1253A= (p.Asn418=)
13g.48381262A>CCA388163314RB1c.1514A>C (p.Asn505Thr)
c.13A>C
c.1253A>C (p.Asn418Thr)
 ClinVar dbSNP gnomAD v4
13g.48381262A>GCA388163316RB1c.1514A>G (p.Asn505Ser)
c.13A>G
c.1253A>G (p.Asn418Ser)
13g.48381262A>TCA388163318RB1c.1514A>T (p.Asn505Ile)
c.13A>T
c.1253A>T (p.Asn418Ile)
 dbSNP
13g.48381263T>ACA388163320RB1c.1515T>A (p.Asn505Lys)
c.14T>A
c.1254T>A (p.Asn418Lys)
 dbSNP gnomAD v4
13g.48381263T>CCA483559395RB1c.1515T>C (p.Asn505=)
c.14T>C
c.1254T>C (p.Asn418=)
13g.48381263T>GCA388163322RB1c.1515T>G (p.Asn505Lys)
c.14T>G
c.1254T>G (p.Asn418Lys)
13g.48381264C>ACA388163324RB1c.1516C>A (p.Leu506Ile)
c.15C>A
c.1255C>A (p.Leu419Ile)
13g.48381264C>GCA388163326RB1c.1516C>G (p.Leu506Val)
c.15C>G
c.1255C>G (p.Leu419Val)
13g.48381264C>TCA388163327RB1c.1516C>T (p.Leu506Phe)
c.15C>T
c.1255C>T (p.Leu419Phe)
13g.48381265T>ACA388163328RB1c.1517T>A (p.Leu506His)
c.16T>A
c.1256T>A (p.Leu419His)
13g.48381265T>CCA388163329RB1c.1517T>C (p.Leu506Pro)
c.16T>C
c.1256T>C (p.Leu419Pro)
 ClinVar gnomAD v4
13g.48381265T>GCA388163330RB1c.1517T>G (p.Leu506Arg)
c.16T>G
c.1256T>G (p.Leu419Arg)
13g.48381266T>ACA483559397RB1c.1518T>A (p.Leu506=)
c.17T>A
c.1257T>A (p.Leu419=)
 dbSNP gnomAD v4
13g.48381266T>CCA483559398RB1c.1518T>C (p.Leu506=)
c.17T>C
c.1257T>C (p.Leu419=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.48381266T>GCA483559399RB1c.1518T>G (p.Leu506=)
c.17T>G
c.1257T>G (p.Leu419=)
 ClinVar
13g.48381266T=CA2089972308RB1c.1518T= (p.Leu506=)
c.17T=
c.1257T= (p.Leu419=)
13g.48381267G>ACA388163336RB1c.1519G>A (p.Asp507Asn)
c.18G>A
c.1258G>A (p.Asp420Asn)
 ClinVar dbSNP
13g.48381267G>CCA388163333RB1c.1519G>C (p.Asp507His)
c.18G>C
c.1258G>C (p.Asp420His)
 ClinVar dbSNP gnomAD v4
13g.48381267G>TCA388163334RB1c.1519G>T (p.Asp507Tyr)
c.18G>T
c.1258G>T (p.Asp420Tyr)
 dbSNP gnomAD v4
13g.48381267_48381271dupCA2499222453RB1c.1519_1523dup (p.Gly509IlefsTer12)
c.18_22dup
c.1258_1262dup (p.Gly422IlefsTer12)
 ClinVar dbSNP
13g.48381268A>CCA388163338RB1c.1520A>C (p.Asp507Ala)
c.19A>C
c.1259A>C (p.Asp420Ala)
 dbSNP
13g.48381268A>GCA388163340RB1c.1520A>G (p.Asp507Gly)
c.19A>G
c.1259A>G (p.Asp420Gly)
 dbSNP
13g.48381268A>TCA388163342RB1c.1520A>T (p.Asp507Val)
c.19A>T
c.1259A>T (p.Asp420Val)
 dbSNP
13g.48381269T>ACA388163345RB1c.1521T>A (p.Asp507Glu)
c.20T>A
c.1260T>A (p.Asp420Glu)
 dbSNP
13g.48381269T>CCA483559401RB1c.1521T>C (p.Asp507=)
c.20T>C
c.1260T>C (p.Asp420=)
13g.48381269T>GCA388163346RB1c.1521T>G (p.Asp507Glu)
c.20T>G
c.1260T>G (p.Asp420Glu)
13g.48381270T>ACA388163349RB1c.1522T>A (p.Ser508Thr)
c.21T>A
c.1261T>A (p.Ser421Thr)
 dbSNP
13g.48381270T>CCA388163351RB1c.1522T>C (p.Ser508Pro)
c.21T>C
c.1261T>C (p.Ser421Pro)
 dbSNP
13g.48381270T>GCA388163353RB1c.1522T>G (p.Ser508Ala)
c.21T>G
c.1261T>G (p.Ser421Ala)
 ClinVar
13g.48381271C>ACA388163355RB1c.1523C>A (p.Ser508Tyr)
c.22C>A
c.1262C>A (p.Ser421Tyr)
 dbSNP
13g.48381271C=CA2089972312RB1c.1523C= (p.Ser508=)
c.22C=
c.1262C= (p.Ser421=)
13g.48381271C>GCA388163357RB1c.1523C>G (p.Ser508Cys)
c.22C>G
c.1262C>G (p.Ser421Cys)
 dbSNP
13g.48381271C>TCA388163359RB1c.1523C>T (p.Ser508Phe)
c.22C>T
c.1262C>T (p.Ser421Phe)
 ClinVar dbSNP gnomAD v4
13g.48381272delCA2697551854RB1c.1524del (p.Gly509GlufsTer10)
c.23del
c.1263del (p.Gly422GlufsTer10)
 ClinVar
13g.48381272T>ACA483559404RB1c.1524T>A (p.Ser508=)
c.23T>A
c.1263T>A (p.Ser421=)
13g.48381272T>CCA483559406RB1c.1524T>C (p.Ser508=)
c.23T>C
c.1263T>C (p.Ser421=)
13g.48381272T>GCA483559403RB1c.1524T>G (p.Ser508=)
c.23T>G
c.1263T>G (p.Ser421=)
13g.48381273G>ACA388163363RB1c.1525G>A (p.Gly509Arg)
c.24G>A
c.1264G>A (p.Gly422Arg)
 dbSNP
13g.48381273G>CCA388163365RB1c.1525G>C (p.Gly509Arg)
c.24G>C
c.1264G>C (p.Gly422Arg)
 dbSNP
13g.48381273G>TCA388163361RB1c.1525G>T (p.Gly509Ter)
c.24G>T
c.1264G>T (p.Gly422Ter)
 dbSNP
13g.48381274G>ACA388163367RB1c.1526G>A (p.Gly509Glu)
c.25G>A
c.1265G>A (p.Gly422Glu)
 dbSNP
13g.48381274G>CCA388163370RB1c.1526G>C (p.Gly509Ala)
c.25G>C
c.1265G>C (p.Gly422Ala)
 ClinVar dbSNP
13g.48381274G=CA2089972320RB1c.1526G= (p.Gly509=)
c.25G=
c.1265G= (p.Gly422=)
13g.48381274G>TCA388163371RB1c.1526G>T (p.Gly509Val)
c.25G>T
c.1265G>T (p.Gly422Val)
 dbSNP
13g.48381275A=CA2089972321RB1c.1527A= (p.Gly509=)
c.26A=
c.1266A= (p.Gly422=)
13g.48381275A>CCA483559407RB1c.1527A>C (p.Gly509=)
c.26A>C
c.1266A>C (p.Gly422=)
13g.48381275A>GCA483559409RB1c.1527A>G (p.Gly509=)
c.26A>G
c.1266A>G (p.Gly422=)
 ClinVar dbSNP gnomAD v4
13g.48381275A>TCA483559411RB1c.1527A>T (p.Gly509=)
c.26A>T
c.1266A>T (p.Gly422=)
 dbSNP
13g.48381276A=CA2089972326RB1c.1528A= (p.Thr510=)
c.27A=
c.1267A= (p.Thr423=)
13g.48381276A>CCA388163374RB1c.1528A>C (p.Thr510Pro)
c.27A>C
c.1267A>C (p.Thr423Pro)
 dbSNP
13g.48381276A>GCA249281918RB1c.1528A>G (p.Thr510Ala)
c.27A>G
c.1267A>G (p.Thr423Ala)
 dbSNP gnomAD v3 gnomAD v4
13g.48381276A>TCA388163376RB1c.1528A>T (p.Thr510Ser)
c.27A>T
c.1267A>T (p.Thr423Ser)
 dbSNP
13g.48381277C>ACA388163377RB1c.1529C>A (p.Thr510Lys)
c.28C>A
c.1268C>A (p.Thr423Lys)
 ClinVar
13g.48381277C>GCA388163379RB1c.1529C>G (p.Thr510Arg)
c.28C>G
c.1268C>G (p.Thr423Arg)
 dbSNP
13g.48381277C>TCA388163381RB1c.1529C>T (p.Thr510Ile)
c.28C>T
c.1268C>T (p.Thr423Ile)
 dbSNP gnomAD v4
13g.48381278A>CCA483559413RB1c.1530A>C (p.Thr510=)
c.29A>C
c.1269A>C (p.Thr423=)
13g.48381278A>GCA483559415RB1c.1530A>G (p.Thr510=)
c.29A>G
c.1269A>G (p.Thr423=)
13g.48381278A>TCA483559417RB1c.1530A>T (p.Thr510=)
c.29A>T
c.1269A>T (p.Thr423=)
 dbSNP
13g.48381279delCA2580087602RB1c.1531del (p.Asp511IlefsTer8)
c.30del
c.1270del (p.Asp424IlefsTer8)
 ClinVar
13g.48381279G>ACA249281921RB1c.1531G>A (p.Asp511Asn)
c.30G>A
c.1270G>A (p.Asp424Asn)
 dbSNP
13g.48381279G>CCA388163383RB1c.1531G>C (p.Asp511His)
c.30G>C
c.1270G>C (p.Asp424His)
 ClinVar dbSNP
13g.48381279G=CA2089972333RB1c.1531G= (p.Asp511=)
c.30G=
c.1270G= (p.Asp424=)
13g.48381279G>TCA388163385RB1c.1531G>T (p.Asp511Tyr)
c.30G>T
c.1270G>T (p.Asp424Tyr)
 ClinVar
13g.48381280A=CA2089972340RB1c.1532A= (p.Asp511=)
c.31A=
c.1271A= (p.Asp424=)
13g.48381280A>CCA388163392RB1c.1532A>C (p.Asp511Ala)
c.31A>C
c.1271A>C (p.Asp424Ala)
 dbSNP
13g.48381280A>GCA388163388RB1c.1532A>G (p.Asp511Gly)
c.31A>G
c.1271A>G (p.Asp424Gly)
 ClinVar dbSNP
13g.48381280A>TCA388163391RB1c.1532A>T (p.Asp511Val)
c.31A>T
c.1271A>T (p.Asp424Val)
13g.48381280dupCA2573149614RB1c.1532dup (p.Asp511GlufsTer12)
c.31dup
c.1271dup (p.Asp424GlufsTer12)
 ClinVar dbSNP
13g.48381280_48381281delinsATCA2089972339RB1c.1532_1533delinsAT (p.Asp511=)
c.31_32delinsAT
c.1271_1272delinsAT (p.Asp424=)
13g.48381281T>ACA388163393RB1c.1533T>A (p.Asp511Glu)
c.32T>A
c.1272T>A (p.Asp424Glu)
 ClinVar dbSNP
13g.48381281T>CCA483559422RB1c.1533T>C (p.Asp511=)
c.32T>C
c.1272T>C (p.Asp424=)
 dbSNP gnomAD v4
13g.48381281T>GCA388163396RB1c.1533T>G (p.Asp511Glu)
c.32T>G
c.1272T>G (p.Asp424Glu)
 dbSNP
13g.48381283delCA029060RB1c.1535del (p.Leu512CysfsTer7)
c.34del
c.1274del (p.Leu425CysfsTer7)
 dbSNP ExAC gnomAD v2
13g.48381282_48381283delCA2695218491RB1c.1534_1535del (p.Leu512ValfsTer10)
c.33_34del
c.1273_1274del (p.Leu425ValfsTer10)
13g.48381282T>ACA388163399RB1c.1534T>A (p.Leu512Met)
c.33T>A
c.1273T>A (p.Leu425Met)
 gnomAD v4
13g.48381282T>CCA483559423RB1c.1534T>C (p.Leu512=)
c.33T>C
c.1273T>C (p.Leu425=)
 dbSNP
13g.48381282T>GCA388163401RB1c.1534T>G (p.Leu512Val)
c.33T>G
c.1273T>G (p.Leu425Val)
13g.48381283T>ACA388163405RB1c.1535T>A (p.Leu512Ter)
c.34T>A
c.1274T>A (p.Leu425Ter)
 dbSNP COSMIC COSMIC
13g.48381283T>CCA388163406RB1c.1535T>C (p.Leu512Ser)
c.34T>C
c.1274T>C (p.Leu425Ser)
 dbSNP gnomAD v2 gnomAD v4
13g.48381283T>GCA388163409RB1c.1535T>G (p.Leu512Trp)
c.34T>G
c.1274T>G (p.Leu425Trp)
13g.48381283T=CA2089972346RB1c.1535T= (p.Leu512=)
c.34T=
c.1274T= (p.Leu425=)
13g.48381284_48381285delCA2695218492RB1c.1536_1537del (p.Leu512PhefsTer10)
c.35_36del
c.1275_1276del (p.Leu425PhefsTer10)
13g.48381284G>ACA483559425RB1c.1536G>A (p.Leu512=)
c.35G>A
c.1275G>A (p.Leu425=)
 ClinVar dbSNP gnomAD v4
13g.48381284G>CCA388163411RB1c.1536G>C (p.Leu512Phe)
c.35G>C
c.1275G>C (p.Leu425Phe)
 dbSNP
13g.48381284G=CA2089972350RB1c.1536G= (p.Leu512=)
c.35G=
c.1275G= (p.Leu425=)
13g.48381284G>TCA249281930RB1c.1536G>T (p.Leu512Phe)
c.35G>T
c.1275G>T (p.Leu425Phe)
 ClinVar dbSNP
13g.48381285delCA2695218493RB1c.1537del (p.Ser513LeufsTer6)
c.36del
c.1276del (p.Ser426LeufsTer6)
13g.48381285T>ACA388163414RB1c.1537T>A (p.Ser513Thr)
c.36T>A
c.1276T>A (p.Ser426Thr)
 dbSNP
13g.48381285T>CCA388163415RB1c.1537T>C (p.Ser513Pro)
c.36T>C
c.1276T>C (p.Ser426Pro)
 ClinVar
13g.48381285T>GCA388163416RB1c.1537T>G (p.Ser513Ala)
c.36T>G
c.1276T>G (p.Ser426Ala)
13g.48381286_48381287delCA645578676RB1c.1538_1539del (p.Ser513PhefsTer9)
c.37_38del
c.1277_1278del (p.Ser426PhefsTer9)
 COSMIC
13g.48381286C>ACA388163420RB1c.1538C>A (p.Ser513Tyr)
c.37C>A
c.1277C>A (p.Ser426Tyr)
13g.48381286C=CA2089972354RB1c.1538C= (p.Ser513=)
c.37C=
c.1277C= (p.Ser426=)
13g.48381286C>GCA388163422RB1c.1538C>G (p.Ser513Cys)
c.37C>G
c.1277C>G (p.Ser426Cys)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
13g.48381286C>TCA388163418RB1c.1538C>T (p.Ser513Phe)
c.37C>T
c.1277C>T (p.Ser426Phe)
 ClinVar dbSNP
13g.48381287T>ACA029072RB1c.1539T>A (p.Ser513=)
c.38T>A
c.1278T>A (p.Ser426=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.48381287T>CCA483559428RB1c.1539T>C (p.Ser513=)
c.38T>C
c.1278T>C (p.Ser426=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48381287T>GCA483559427RB1c.1539T>G (p.Ser513=)
c.38T>G
c.1278T>G (p.Ser426=)
13g.48381287T=CA2089972357RB1c.1539T= (p.Ser513=)
c.38T=
c.1278T= (p.Ser426=)
13g.48381288T>ACA388163425RB1c.1540T>A (p.Phe514Ile)
c.39T>A
c.1279T>A (p.Phe427Ile)
 dbSNP
13g.48381288T>CCA388163427RB1c.1540T>C (p.Phe514Leu)
c.39T>C
c.1279T>C (p.Phe427Leu)
 ClinVar dbSNP
13g.48381288T>GCA388163429RB1c.1540T>G (p.Phe514Val)
c.39T>G
c.1279T>G (p.Phe427Val)
13g.48381289T>ACA388163430RB1c.1541T>A (p.Phe514Tyr)
c.40T>A
c.1280T>A (p.Phe427Tyr)
13g.48381289T>CCA388163432RB1c.1541T>C (p.Phe514Ser)
c.40T>C
c.1280T>C (p.Phe427Ser)
 COSMIC COSMIC
13g.48381289T>GCA388163434RB1c.1541T>G (p.Phe514Cys)
c.40T>G
c.1280T>G (p.Phe427Cys)
13g.48381290C>ACA388163439RB1c.1542C>A (p.Phe514Leu)
c.41C>A
c.1281C>A (p.Phe427Leu)
 dbSNP
13g.48381290C=CA2089972360RB1c.1542C= (p.Phe514=)
c.41C=
c.1281C= (p.Phe427=)
13g.48381290C>GCA388163437RB1c.1542C>G (p.Phe514Leu)
c.41C>G
c.1281C>G (p.Phe427Leu)
 dbSNP gnomAD v4
13g.48381290C>TCA483559430RB1c.1542C>T (p.Phe514=)
c.41C>T
c.1281C>T (p.Phe427=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48381291C>ACA249281936RB1c.1543C>A (p.Pro515Thr)
c.42C>A
c.1282C>A (p.Pro428Thr)
 dbSNP
13g.48381291C=CA2089972366RB1c.1543C= (p.Pro515=)
c.42C=
c.1282C= (p.Pro428=)
13g.48381291C>GCA388163441RB1c.1543C>G (p.Pro515Ala)
c.42C>G
c.1282C>G (p.Pro428Ala)
 dbSNP
13g.48381291C>TCA388163442RB1c.1543C>T (p.Pro515Ser)
c.42C>T
c.1282C>T (p.Pro428Ser)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
13g.48381292C>ACA388163443RB1c.1544C>A (p.Pro515Gln)
c.43C>A
c.1283C>A (p.Pro428Gln)
 dbSNP
13g.48381292C=CA2089972373RB1c.1544C= (p.Pro515=)
c.43C=
c.1283C= (p.Pro428=)
13g.48381292C>GCA388163445RB1c.1544C>G (p.Pro515Arg)
c.43C>G
c.1283C>G (p.Pro428Arg)
 dbSNP
13g.48381292C>TCA249281937RB1c.1544C>T (p.Pro515Leu)
c.43C>T
c.1283C>T (p.Pro428Leu)
 dbSNP COSMIC
13g.48381293A=CA2089972375RB1c.1545A= (p.Pro515=)
c.44A=
c.1284A= (p.Pro428=)
13g.48381293A>CCA483559434RB1c.1545A>C (p.Pro515=)
c.44A>C
c.1284A>C (p.Pro428=)
 gnomAD v4
13g.48381293A>GCA483559435RB1c.1545A>G (p.Pro515=)
c.44A>G
c.1284A>G (p.Pro428=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48381293A>TCA483559433RB1c.1545A>T (p.Pro515=)
c.44A>T
c.1284A>T (p.Pro428=)
 dbSNP
13g.48381294T>ACA388163449RB1c.1546T>A (p.Trp516Arg)
c.45T>A
c.1285T>A (p.Trp429Arg)
13g.48381294T>CCA388163452RB1c.1546T>C (p.Trp516Arg)
c.45T>C
c.1285T>C (p.Trp429Arg)
 ClinVar dbSNP gnomAD v4
13g.48381294T>GCA249281938RB1c.1546T>G (p.Trp516Gly)
c.45T>G
c.1285T>G (p.Trp429Gly)
 dbSNP
13g.48381294T=CA2089972380RB1c.1546T= (p.Trp516=)
c.45T=
c.1285T= (p.Trp429=)
13g.48381295G>ACA388163455RB1c.1547G>A (p.Trp516Ter)
c.46G>A
c.1286G>A (p.Trp429Ter)
13g.48381295G>CCA388163457RB1c.1547G>C (p.Trp516Ser)
c.46G>C
c.1286G>C (p.Trp429Ser)
 ClinVar dbSNP
13g.48381295G=CA2089972387RB1c.1547G= (p.Trp516=)
c.46G=
c.1286G= (p.Trp429=)
13g.48381295G>TCA388163459RB1c.1547G>T (p.Trp516Leu)
c.46G>T
c.1286G>T (p.Trp429Leu)
13g.48381296G>ACA388163461RB1c.1548G>A (p.Trp516Ter)
c.47G>A
c.1287G>A (p.Trp429Ter)
 dbSNP COSMIC
13g.48381296G>CCA388163463RB1c.1548G>C (p.Trp516Cys)
c.47G>C
c.1287G>C (p.Trp429Cys)
 dbSNP
13g.48381296G>TCA388163465RB1c.1548G>T (p.Trp516Cys)
c.47G>T
c.1287G>T (p.Trp429Cys)
 dbSNP
13g.48381297delCA2695218494RB1c.1549del (p.Ile517PhefsTer2)
c.48del
c.1288del (p.Ile430PhefsTer2)
13g.48381297A>CCA388163467RB1c.1549A>C (p.Ile517Leu)
c.48A>C
c.1288A>C (p.Ile430Leu)
13g.48381297A>GCA388163468RB1c.1549A>G (p.Ile517Val)
c.48A>G
c.1288A>G (p.Ile430Val)
13g.48381297A>TCA388163470RB1c.1549A>T (p.Ile517Phe)
c.48A>T
c.1288A>T (p.Ile430Phe)
 dbSNP
13g.48381298T>ACA388163472RB1c.1550T>A (p.Ile517Asn)
c.49T>A
c.1289T>A (p.Ile430Asn)
 ClinVar dbSNP
13g.48381298T>CCA388163473RB1c.1550T>C (p.Ile517Thr)
c.49T>C
c.1289T>C (p.Ile430Thr)
13g.48381298T>GCA388163476RB1c.1550T>G (p.Ile517Ser)
c.49T>G
c.1289T>G (p.Ile430Ser)
13g.48381299T>ACA483559437RB1c.1551T>A (p.Ile517=)
c.50T>A
c.1290T>A (p.Ile430=)
13g.48381299T>CCA483559439RB1c.1551T>C (p.Ile517=)
c.50T>C
c.1290T>C (p.Ile430=)
13g.48381299T>GCA388163478RB1c.1551T>G (p.Ile517Met)
c.50T>G
c.1290T>G (p.Ile430Met)
13g.48381300C>ACA388163482RB1c.1552C>A (p.Leu518Met)
c.51C>A
c.1291C>A (p.Leu431Met)
 dbSNP
13g.48381300C>GCA388163480RB1c.1552C>G (p.Leu518Val)
c.51C>G
c.1291C>G (p.Leu431Val)
 dbSNP
13g.48381300C>TCA483559440RB1c.1552C>T (p.Leu518=)
c.51C>T
c.1291C>T (p.Leu431=)
 dbSNP
13g.48381301T>ACA388163484RB1c.1553T>A (p.Leu518Gln)
c.52T>A
c.1292T>A (p.Leu431Gln)
13g.48381301T>CCA388163485RB1c.1553T>C (p.Leu518Pro)
c.52T>C
c.1292T>C (p.Leu431Pro)
 ClinVar dbSNP
13g.48381301T>GCA388163487RB1c.1553T>G (p.Leu518Arg)
c.52T>G
c.1292T>G (p.Leu431Arg)
 gnomAD v4
13g.48381302G>ACA483559441RB1c.1554G>A (p.Leu518=)
c.53G>A
c.1293G>A (p.Leu431=)
 dbSNP
13g.48381302G>CCA483559443RB1c.1554G>C (p.Leu518=)
c.53G>C
c.1293G>C (p.Leu431=)
 ClinVar dbSNP
13g.48381302G>TCA483559444RB1c.1554G>T (p.Leu518=)
c.53G>T
c.1293G>T (p.Leu431=)
13g.48381302_48381309delCA2697551855RB1c.1554_1561del (p.Asn519Ter)
c.53_60del
c.1293_1300del (p.Asn432Ter)
 ClinVar
13g.48381303A>CCA388163489RB1c.1555A>C (p.Asn519His)
c.54A>C
c.1294A>C (p.Asn432His)
13g.48381303A>GCA388163490RB1c.1555A>G (p.Asn519Asp)
c.54A>G
c.1294A>G (p.Asn432Asp)
13g.48381303A>TCA388163493RB1c.1555A>T (p.Asn519Tyr)
c.54A>T
c.1294A>T (p.Asn432Tyr)
 dbSNP
13g.48381305_48381306insATTTAATCA2695218495RB1c.1557_1558insATTTAAT (p.Val520IlefsTer2)
c.56_57insATTTAAT
c.1296_1297insATTTAAT (p.Val433IlefsTer2)
13g.48381304A=CA2089972390RB1c.1556A= (p.Asn519=)
c.55A=
c.1295A= (p.Asn432=)
13g.48381304A>CCA388163499RB1c.1556A>C (p.Asn519Thr)
c.55A>C
c.1295A>C (p.Asn432Thr)
 gnomAD v4
13g.48381304A>GCA388163495RB1c.1556A>G (p.Asn519Ser)
c.55A>G
c.1295A>G (p.Asn432Ser)
 dbSNP
13g.48381304A>TCA388163497RB1c.1556A>T (p.Asn519Ile)
c.55A>T
c.1295A>T (p.Asn432Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48381305delCA2695218496RB1c.1557del (p.Asn519LysfsTer5)
c.56del
c.1296del (p.Asn432LysfsTer5)
13g.48381305T>ACA388163502RB1c.1557T>A (p.Asn519Lys)
c.56T>A
c.1296T>A (p.Asn432Lys)
 dbSNP
13g.48381305T>CCA483559445RB1c.1557T>C (p.Asn519=)
c.56T>C
c.1296T>C (p.Asn432=)
13g.48381305T>GCA249281939RB1c.1557T>G (p.Asn519Lys)
c.56T>G
c.1296T>G (p.Asn432Lys)
 dbSNP gnomAD v4
13g.48381305T=CA2089972396RB1c.1557T= (p.Asn519=)
c.56T=
c.1296T= (p.Asn432=)
13g.48381306G>ACA388163512RB1c.1558G>A (p.Val520Met)
c.57G>A
c.1297G>A (p.Val433Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.48381306G>CCA388163513RB1c.1558G>C (p.Val520Leu)
c.57G>C
c.1297G>C (p.Val433Leu)
 ClinVar dbSNP
13g.48381306G=CA2089972400RB1c.1558G= (p.Val520=)
c.57G=
c.1297G= (p.Val433=)
13g.48381306G>TCA388163514RB1c.1558G>T (p.Val520Leu)
c.57G>T
c.1297G>T (p.Val433Leu)
13g.48381307T>ACA388163516RB1c.1559T>A (p.Val520Glu)
c.58T>A
c.1298T>A (p.Val433Glu)
 dbSNP
13g.48381307T>CCA388163519RB1c.1559T>C (p.Val520Ala)
c.58T>C
c.1298T>C (p.Val433Ala)
13g.48381307T>GCA388163518RB1c.1559T>G (p.Val520Gly)
c.58T>G
c.1298T>G (p.Val433Gly)
 dbSNP gnomAD v4
13g.48381308G>ACA483559448RB1c.1560G>A (p.Val520=)
c.59G>A
c.1299G>A (p.Val433=)
 dbSNP
13g.48381308G>CCA483559449RB1c.1560G>C (p.Val520=)
c.59G>C
c.1299G>C (p.Val433=)
 dbSNP
13g.48381308G>TCA483559450RB1c.1560G>T (p.Val520=)
c.59G>T
c.1299G>T (p.Val433=)
 dbSNP
13g.48381309C>ACA388163522RB1c.1561C>A (p.Leu521Ile)
c.60C>A
c.1300C>A (p.Leu434Ile)
 dbSNP
13g.48381309C>GCA388163523RB1c.1561C>G (p.Leu521Val)
c.60C>G
c.1300C>G (p.Leu434Val)
 ClinVar dbSNP
13g.48381309C>TCA388163525RB1c.1561C>T (p.Leu521Phe)
c.60C>T
c.1300C>T (p.Leu434Phe)
 dbSNP

Number of alleles fetched