Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.54626258_54626316delCA2780387017RP1c.2376_2434del (p.Arg793TyrfsTer3)
c.787+3970_787+4028del (n.787+3970_787+4028del)
c.2397_2455del (p.Arg800TyrfsTer3)
8g.54626299A=CA1785188252RP1c.2417A= (p.Glu806=)
c.787+4011A= (n.787+4011A=)
c.2438A= (p.Glu813=)
8g.54626299A>CCA370993764RP1c.2417A>C (p.Glu806Ala)
c.787+4011A>C (n.787+4011A>C)
c.2438A>C (p.Glu813Ala)
8g.54626299A>GCA370993766RP1c.2417A>G (p.Glu806Gly)
c.787+4011A>G (n.787+4011A>G)
c.2438A>G (p.Glu813Gly)
8g.54626299A>TCA4751529RP1c.2417A>T (p.Glu806Val)
c.787+4011A>T (n.787+4011A>T)
c.2438A>T (p.Glu813Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626300A=CA1785188253RP1c.2418A= (p.Glu806=)
c.787+4012A= (n.787+4012A=)
c.2439A= (p.Glu813=)
8g.54626300A>CCA370993769RP1c.2418A>C (p.Glu806Asp)
c.787+4012A>C (n.787+4012A>C)
c.2439A>C (p.Glu813Asp)
8g.54626300A>GCA461098775RP1c.2418A>G (p.Glu806=)
c.787+4012A>G (n.787+4012A>G)
c.2439A>G (p.Glu813=)
 dbSNP gnomAD v4
8g.54626300A>TCA370993770RP1c.2418A>T (p.Glu806Asp)
c.787+4012A>T (n.787+4012A>T)
c.2439A>T (p.Glu813Asp)
8g.54626301T>ACA370993772RP1c.2419T>A (p.Ser807Thr)
c.787+4013T>A (n.787+4013T>A)
c.2440T>A (p.Ser814Thr)
8g.54626301T>CCA370993774RP1c.2419T>C (p.Ser807Pro)
c.787+4013T>C (n.787+4013T>C)
c.2440T>C (p.Ser814Pro)
8g.54626301T>GCA370993776RP1c.2419T>G (p.Ser807Ala)
c.787+4013T>G (n.787+4013T>G)
c.2440T>G (p.Ser814Ala)
8g.54626302C>ACA370993781RP1c.2420C>A (p.Ser807Tyr)
c.787+4014C>A (n.787+4014C>A)
c.2441C>A (p.Ser814Tyr)
8g.54626302C=CA1785188254RP1c.2420C= (p.Ser807=)
c.787+4014C= (n.787+4014C=)
c.2441C= (p.Ser814=)
8g.54626302C>GCA370993777RP1c.2420C>G (p.Ser807Cys)
c.787+4014C>G (n.787+4014C>G)
c.2441C>G (p.Ser814Cys)
8g.54626302C>TCA370993779RP1c.2420C>T (p.Ser807Phe)
c.787+4014C>T (n.787+4014C>T)
c.2441C>T (p.Ser814Phe)
 dbSNP gnomAD v2 gnomAD v4
8g.54626303T>ACA461098780RP1c.2421T>A (p.Ser807=)
c.787+4015T>A (n.787+4015T>A)
c.2442T>A (p.Ser814=)
8g.54626303T>CCA177237160RP1c.2421T>C (p.Ser807=)
c.787+4015T>C (n.787+4015T>C)
c.2442T>C (p.Ser814=)
 dbSNP
8g.54626303T>GCA461098781RP1c.2421T>G (p.Ser807=)
c.787+4015T>G (n.787+4015T>G)
c.2442T>G (p.Ser814=)
8g.54626303T=CA1785188255RP1c.2421T= (p.Ser807=)
c.787+4015T= (n.787+4015T=)
c.2442T= (p.Ser814=)
8g.54626304A=CA1785188256RP1c.2422A= (p.Lys808=)
c.787+4016A= (n.787+4016A=)
c.2443A= (p.Lys815=)
8g.54626304A>CCA370993783RP1c.2422A>C (p.Lys808Gln)
c.787+4016A>C (n.787+4016A>C)
c.2443A>C (p.Lys815Gln)
8g.54626304A>GCA370993784RP1c.2422A>G (p.Lys808Glu)
c.787+4016A>G (n.787+4016A>G)
c.2443A>G (p.Lys815Glu)
8g.54626304A>TCA370993786RP1c.2422A>T (p.Lys808Ter)
c.787+4016A>T (n.787+4016A>T)
c.2443A>T (p.Lys815Ter)
 dbSNP
8g.54626305A>CCA370993787RP1c.2423A>C (p.Lys808Thr)
c.787+4017A>C (n.787+4017A>C)
c.2444A>C (p.Lys815Thr)
8g.54626305A>GCA370993789RP1c.2423A>G (p.Lys808Arg)
c.787+4017A>G (n.787+4017A>G)
c.2444A>G (p.Lys815Arg)
8g.54626305A>TCA370993790RP1c.2423A>T (p.Lys808Ile)
c.787+4017A>T (n.787+4017A>T)
c.2444A>T (p.Lys815Ile)
8g.54626306A>CCA370993791RP1c.2424A>C (p.Lys808Asn)
c.787+4018A>C (n.787+4018A>C)
c.2445A>C (p.Lys815Asn)
8g.54626306A>GCA461098784RP1c.2424A>G (p.Lys808=)
c.787+4018A>G (n.787+4018A>G)
c.2445A>G (p.Lys815=)
8g.54626306A>TCA370993792RP1c.2424A>T (p.Lys808Asn)
c.787+4018A>T (n.787+4018A>T)
c.2445A>T (p.Lys815Asn)
8g.54626307T>ACA370993793RP1c.2425T>A (p.Tyr809Asn)
c.787+4019T>A (n.787+4019T>A)
c.2446T>A (p.Tyr816Asn)
8g.54626307T>CCA370993795RP1c.2425T>C (p.Tyr809His)
c.787+4019T>C (n.787+4019T>C)
c.2446T>C (p.Tyr816His)
8g.54626307T>GCA370993797RP1c.2425T>G (p.Tyr809Asp)
c.787+4019T>G (n.787+4019T>G)
c.2446T>G (p.Tyr816Asp)
8g.54626308A>CCA370993802RP1c.2426A>C (p.Tyr809Ser)
c.787+4020A>C (n.787+4020A>C)
c.2447A>C (p.Tyr816Ser)
8g.54626308A>GCA370993800RP1c.2426A>G (p.Tyr809Cys)
c.787+4020A>G (n.787+4020A>G)
c.2447A>G (p.Tyr816Cys)
 gnomAD v4
8g.54626308A>TCA370993799RP1c.2426A>T (p.Tyr809Phe)
c.787+4020A>T (n.787+4020A>T)
c.2447A>T (p.Tyr816Phe)
8g.54626309T>ACA370993804RP1c.2427T>A (p.Tyr809Ter)
c.787+4021T>A (n.787+4021T>A)
c.2448T>A (p.Tyr816Ter)
8g.54626309T>CCA4751530RP1c.2427T>C (p.Tyr809=)
c.787+4021T>C (n.787+4021T>C)
c.2448T>C (p.Tyr816=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626309T>GCA370993806RP1c.2427T>G (p.Tyr809Ter)
c.787+4021T>G (n.787+4021T>G)
c.2448T>G (p.Tyr816Ter)
8g.54626309T=CA1785188257RP1c.2427T= (p.Tyr809=)
c.787+4021T= (n.787+4021T=)
c.2448T= (p.Tyr816=)
8g.54626310T>ACA370993807RP1c.2428T>A (p.Cys810Ser)
c.787+4022T>A (n.787+4022T>A)
c.2449T>A (p.Cys817Ser)
8g.54626310T>CCA370993809RP1c.2428T>C (p.Cys810Arg)
c.787+4022T>C (n.787+4022T>C)
c.2449T>C (p.Cys817Arg)
8g.54626310T>GCA370993811RP1c.2428T>G (p.Cys810Gly)
c.787+4022T>G (n.787+4022T>G)
c.2449T>G (p.Cys817Gly)
8g.54626310T=CA1785188258RP1c.2428T= (p.Cys810=)
c.787+4022T= (n.787+4022T=)
c.2449T= (p.Cys817=)
8g.54626311G>ACA370993815RP1c.2429G>A (p.Cys810Tyr)
c.787+4023G>A (n.787+4023G>A)
c.2450G>A (p.Cys817Tyr)
 dbSNP gnomAD v4
8g.54626311G>CCA370993812RP1c.2429G>C (p.Cys810Ser)
c.787+4023G>C (n.787+4023G>C)
c.2450G>C (p.Cys817Ser)
8g.54626311G=CA1785188259RP1c.2429G= (p.Cys810=)
c.787+4023G= (n.787+4023G=)
c.2450G= (p.Cys817=)
8g.54626311G>TCA370993814RP1c.2429G>T (p.Cys810Phe)
c.787+4023G>T (n.787+4023G>T)
c.2450G>T (p.Cys817Phe)
8g.54626311_54626328dupCA1785188260RP1c.2429_2446dup (p.Glu815_Asn816insSerLysSerThrPheGlu)
c.787+4023_787+4040dup (n.787+4023_787+4040dup)
c.2450_2467dup (p.Glu822_Asn823insSerLysSerThrPheGlu)
 dbSNP
8g.54626312C>ACA370993818RP1c.2430C>A (p.Cys810Ter)
c.787+4024C>A (n.787+4024C>A)
c.2451C>A (p.Cys817Ter)
 ClinVar dbSNP

Number of alleles fetched