Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.24204860_24205385delinsGTTTTTAAGGTTGATCAGCCACATAGTACCTTAGAGGGTTTAATTCATACAGGTATAGGAACAATTTGTAGGAGATAACACAAAACTTGGAAAAAAAACACTATAATTGTCTTACACATATTTTTTAAGGCATGGAGATTACCTGATCGACTGGAACCTCAACCTGAGTATCTTCATCTTCTTGGACTTCTGCTGCCCCCCGTGTTTCAGACCTCTCTGCTCCAGCTTTGAAAATGCCTTCATCTATTGAGACAAACACACAGTGAAAATCAAAATCCAATTGTGACATCGTGTGGCTGAATGCTGGAATTACAATCAAATGCTTATTTTTAATAGACATTTGGATTCCCTTTTTAGTTGATAGTATTTTTGTGCACCCCCTCCTCCGACCACCACACCACCCCCAGTTGTTCCACATTTTCATTGAGAAAACATTCAGTGGTCAAAACAAGGCTGACCCAGCAGGGTAAAGTTCTGTCGAAGCTCCTGTTCACCCTTTGGCTACTGATTTACTAACATAGCCCTTCA1616385196DCDC2c.923-283_1023+142delinsAAGGGCTATGTTAGTAAATCAGTAGCCAAAGGGTGAACAGGAGCTTCGACAGAACTTTACCCTGCTGGGTCAGCCTTGTTTTGACCACTGAATGTTTTCTCAATGAAAATGTGGAACAACTGGGGGTGGTGTGGTGGTCGGAGGAGGGGGTGCACAAAAATACTATCAACTAAAAAGGGAATCCAAATGTCTATTAAAAATAAGCATTTGATTGTAATTCCAGCATTCAGCCACACGATGTCACAATTGGATTTTGATTTTCACTGTGTGTTTGTCTCAATAGATGAAGGCATTTTCAAAGCTGGAGCAGAGAGGTCTGAAACACGGGGGGCAGCAGAAGTCCAAGAAGATGAAGATACTCAGGTTGAGGTTCCAGTCGATCAGGTAATCTCCATGCCTTAAAAAATATGTGTAAGACAATTATAGTGTTTTTTTTCCAAGTTTTGTGTTATCTCCTACAAATTGTTCCTATACCTGTATGAATTAAACCCTCTAAGGTACTATGTGGCTGATCAACCTTAAAAAC
6g.24204862_24205386delCA1139659452DCDC2c.923-283_1023+141del
ClinVar dbSNP
6g.24204937A=CA1616385225DCDC2c.1023+65T= (n.1023+65T=)
c.282+65T= (n.282+65T=)
6g.24204937A>GCA823270707DCDC2c.1023+65T>C (n.1023+65T>C)
c.282+65T>C (n.282+65T>C)
dbSNP
6g.24204938C>ACA2578541596DCDC2c.1023+64G>T (n.1023+64G>T)
c.282+64G>T (n.282+64G>T)
gnomAD v4
6g.24204938C=CA1616385226DCDC2c.1023+64G= (n.1023+64G=)
c.282+64G= (n.282+64G=)
6g.24204938C>TCA1086936978DCDC2c.1023+64G>A (n.1023+64G>A)
c.282+64G>A (n.282+64G>A)
dbSNP gnomAD v3 gnomAD v4
6g.24204939A>GCA2677514556DCDC2c.1023+63T>C (n.1023+63T>C)
c.282+63T>C (n.282+63T>C)
gnomAD v4
6g.24204940C>ACA2677514557DCDC2c.1023+62G>T (n.1023+62G>T)
c.282+62G>T (n.282+62G>T)
gnomAD v4
6g.24204940C=CA1616385227DCDC2c.1023+62G= (n.1023+62G=)
c.282+62G= (n.282+62G=)
6g.24204940C>GCA823270709DCDC2c.1023+62G>C (n.1023+62G>C)
c.282+62G>C (n.282+62G>C)
dbSNP gnomAD v4
6g.24204940C>TCA2578541598DCDC2c.1023+62G>A (n.1023+62G>A)
c.282+62G>A (n.282+62G>A)
6g.24204942A=CA1616385228DCDC2c.1023+60T= (n.1023+60T=)
c.282+60T= (n.282+60T=)
6g.24204942A>CCA136625679DCDC2c.1023+60T>G (n.1023+60T>G)
c.282+60T>G (n.282+60T>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24204944A=CA1616385229DCDC2c.1023+58T= (n.1023+58T=)
c.282+58T= (n.282+58T=)
6g.24204944A>CCA823270714DCDC2c.1023+58T>G (n.1023+58T>G)
c.282+58T>G (n.282+58T>G)
dbSNP gnomAD v3 gnomAD v4
6g.24204945_24204949delCA1086936984DCDC2c.1023+53_1023+57del (n.1023+53_1023+57del)
c.282+53_282+57del (n.282+53_282+57del)
gnomAD v3 gnomAD v4
6g.24204947T>CCA2711299180DCDC2c.1023+55A>G (n.1023+55A>G)
c.282+55A>G (n.282+55A>G)
dbSNP
6g.24204948G>ACA2770322495DCDC2c.1023+54C>T (n.1023+54C>T)
c.282+54C>T (n.282+54C>T)
6g.24204948G>CCA1616385231DCDC2c.1023+54C>G (n.1023+54C>G)
c.282+54C>G (n.282+54C>G)
dbSNP gnomAD v4
6g.24204948G=CA1616385230DCDC2c.1023+54C= (n.1023+54C=)
c.282+54C= (n.282+54C=)
6g.24204948G>TCA2578541600DCDC2c.1023+54C>A (n.1023+54C>A)
c.282+54C>A (n.282+54C>A)
gnomAD v4
6g.24204949G>ACA2677514558DCDC2c.1023+53C>T (n.1023+53C>T)
c.282+53C>T (n.282+53C>T)
gnomAD v4
6g.24204949G>TCA2677514559DCDC2c.1023+53C>A (n.1023+53C>A)
c.282+53C>A (n.282+53C>A)
gnomAD v4
6g.24204949_24204950delinsGACA1616385232DCDC2c.1023+52_1023+53delinsTC (n.1023+52_1023+53delinsTC)
c.282+52_282+53delinsTC (n.282+52_282+53delinsTC)
6g.24204950A=CA1616385233DCDC2c.1023+52T= (n.1023+52T=)
c.282+52T= (n.282+52T=)
6g.24204950A>GCA136625681DCDC2c.1023+52T>C (n.1023+52T>C)
c.282+52T>C (n.282+52T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24204957dupCA136625680DCDC2c.1023+52dup (n.1023+52dup)
c.282+52dup (n.282+52dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24204956_24204957dupCA2677514560DCDC2c.1023+51_1023+52dup (n.1023+51_1023+52dup)
c.282+51_282+52dup (n.282+51_282+52dup)
gnomAD v4
6g.24204953_24204957dupCA1086936986DCDC2c.1023+48_1023+52dup (n.1023+48_1023+52dup)
c.282+48_282+52dup (n.282+48_282+52dup)
gnomAD v3 gnomAD v4
6g.24204957delCA823270730DCDC2c.1023+52del (n.1023+52del)
c.282+52del (n.282+52del)
dbSNP gnomAD v3 gnomAD v4
6g.24204953A>TCA2770322496DCDC2c.1023+49T>A (n.1023+49T>A)
c.282+49T>A (n.282+49T>A)
6g.24204955A>GCA2510659430DCDC2c.1023+47T>C (n.1023+47T>C)
c.282+47T>C (n.282+47T>C)
6g.24204957A=CA1616385234DCDC2c.1023+45T= (n.1023+45T=)
c.282+45T= (n.282+45T=)
6g.24204957A>CCA3654536DCDC2c.1023+45T>G (n.1023+45T>G)
c.282+45T>G (n.282+45T>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24204957A>TCA823270732DCDC2c.1023+45T>A (n.1023+45T>A)
c.282+45T>A (n.282+45T>A)
dbSNP gnomAD v4
6g.24204960C=CA1616385235DCDC2c.1023+42G= (n.1023+42G=)
c.282+42G= (n.282+42G=)
6g.24204960C>GCA2578541605DCDC2c.1023+42G>C (n.1023+42G>C)
c.282+42G>C (n.282+42G>C)
6g.24204960C>TCA1616385236DCDC2c.1023+42G>A (n.1023+42G>A)
c.282+42G>A (n.282+42G>A)
dbSNP gnomAD v4
6g.24204961T>ACA566291241DCDC2c.1023+41A>T (n.1023+41A>T)
c.282+41A>T (n.282+41A>T)
dbSNP gnomAD v2 gnomAD v4
6g.24204961T>CCA2578541606DCDC2c.1023+41A>G (n.1023+41A>G)
c.282+41A>G (n.282+41A>G)
6g.24204961T=CA1616385237DCDC2c.1023+41A= (n.1023+41A=)
c.282+41A= (n.282+41A=)
6g.24204962A=CA1616385238DCDC2c.1023+40T= (n.1023+40T=)
c.282+40T= (n.282+40T=)
6g.24204962A>GCA3654537DCDC2c.1023+40T>C (n.1023+40T>C)
c.282+40T>C (n.282+40T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24204963T>CCA2677514562DCDC2c.1023+39A>G (n.1023+39A>G)
c.282+39A>G (n.282+39A>G)
gnomAD v4
6g.24204963dupCA2677514561DCDC2c.1023+39dup (n.1023+39dup)
c.282+39dup (n.282+39dup)
gnomAD v4
6g.24204966T>CCA2677514563DCDC2c.1023+36A>G (n.1023+36A>G)
c.282+36A>G (n.282+36A>G)
gnomAD v4
6g.24204967T>CCA3654538DCDC2c.1023+35A>G (n.1023+35A>G)
c.282+35A>G (n.282+35A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.24204967T=CA1616385239DCDC2c.1023+35A= (n.1023+35A=)
c.282+35A= (n.282+35A=)
6g.24204968G>ACA823270743DCDC2c.1023+34C>T (n.1023+34C>T)
c.282+34C>T (n.282+34C>T)
dbSNP gnomAD v3 gnomAD v4
6g.24204968G=CA1616385240DCDC2c.1023+34C= (n.1023+34C=)
c.282+34C= (n.282+34C=)
6g.24204968G>TCA136625682DCDC2c.1023+34C>A (n.1023+34C>A)
c.282+34C>A (n.282+34C>A)
dbSNP gnomAD v4
6g.24204970C>TCA2677514564DCDC2c.1023+32G>A (n.1023+32G>A)
c.282+32G>A (n.282+32G>A)
gnomAD v4
6g.24204973A>TCA2578541608DCDC2c.1023+29T>A (n.1023+29T>A)
c.282+29T>A (n.282+29T>A)
gnomAD v4
6g.24204974C>ACA2581549400DCDC2c.1023+28G>T (n.1023+28G>T)
c.282+28G>T (n.282+28G>T)
gnomAD v4
6g.24204974C=CA1616385241DCDC2c.1023+28G= (n.1023+28G=)
c.282+28G= (n.282+28G=)
6g.24204974C>GCA3654539DCDC2c.1023+28G>C (n.1023+28G>C)
c.282+28G>C (n.282+28G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24204974C>TCA2581549401DCDC2c.1023+28G>A (n.1023+28G>A)
c.282+28G>A (n.282+28G>A)
gnomAD v4
6g.24204976C>ACA2677514565DCDC2c.1023+26G>T (n.1023+26G>T)
c.282+26G>T (n.282+26G>T)
gnomAD v4
6g.24204976C=CA1616385242DCDC2c.1023+26G= (n.1023+26G=)
c.282+26G= (n.282+26G=)
6g.24204976C>TCA566291242DCDC2c.1023+26G>A (n.1023+26G>A)
c.282+26G>A (n.282+26G>A)
dbSNP gnomAD v2 gnomAD v4
6g.24204977A=CA1616385243DCDC2c.1023+25T= (n.1023+25T=)
c.282+25T= (n.282+25T=)
6g.24204977A>CCA566291243DCDC2c.1023+25T>G (n.1023+25T>G)
c.282+25T>G (n.282+25T>G)
dbSNP gnomAD v2 gnomAD v4
6g.24204977A>GCA136625683DCDC2c.1023+25T>C (n.1023+25T>C)
c.282+25T>C (n.282+25T>C)
dbSNP gnomAD v4
6g.24204978T>CCA823270755DCDC2c.1023+24A>G (n.1023+24A>G)
c.282+24A>G (n.282+24A>G)
dbSNP gnomAD v3 gnomAD v4
6g.24204978T>GCA2677514566DCDC2c.1023+24A>C (n.1023+24A>C)
c.282+24A>C (n.282+24A>C)
gnomAD v4
6g.24204978T=CA1616385244DCDC2c.1023+24A= (n.1023+24A=)
c.282+24A= (n.282+24A=)
6g.24204979A=CA1616385245DCDC2c.1023+23T= (n.1023+23T=)
c.282+23T= (n.282+23T=)
6g.24204980T>CCA2677514568DCDC2c.1023+22A>G (n.1023+22A>G)
c.282+22A>G (n.282+22A>G)
gnomAD v4
6g.24204985dupCA566291244DCDC2c.1023+22dup (n.1023+22dup)
c.282+22dup (n.282+22dup)
dbSNP gnomAD v2 gnomAD v4
6g.24204985delCA2677514567DCDC2c.1023+22del (n.1023+22del)
c.282+22del (n.282+22del)
gnomAD v4
6g.24204983T>CCA2578541611DCDC2c.1023+19A>G (n.1023+19A>G)
c.282+19A>G (n.282+19A>G)
6g.24204985T>CCA566291245DCDC2c.1023+17A>G (n.1023+17A>G)
c.282+17A>G (n.282+17A>G)
dbSNP gnomAD v2 gnomAD v4
6g.24204985T>GCA1086936999DCDC2c.1023+17A>C (n.1023+17A>C)
c.282+17A>C (n.282+17A>C)
dbSNP gnomAD v3 gnomAD v4
6g.24204985T=CA1616385246DCDC2c.1023+17A= (n.1023+17A=)
c.282+17A= (n.282+17A=)
6g.24204988G>ACA566291246DCDC2c.1023+14C>T (n.1023+14C>T)
c.282+14C>T (n.282+14C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24204988G=CA1616385247DCDC2c.1023+14C= (n.1023+14C=)
c.282+14C= (n.282+14C=)
6g.24204988G>TCA1086937003DCDC2c.1023+14C>A (n.1023+14C>A)
c.282+14C>A (n.282+14C>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.24204989G>ACA1086937005DCDC2c.1023+13C>T (n.1023+13C>T)
c.282+13C>T (n.282+13C>T)
dbSNP gnomAD v3 gnomAD v4
6g.24204989G=CA1616385248DCDC2c.1023+13C= (n.1023+13C=)
c.282+13C= (n.282+13C=)
6g.24204989G>TCA2677514569DCDC2c.1023+13C>A (n.1023+13C>A)
c.282+13C>A (n.282+13C>A)
gnomAD v4
6g.24204990C>GCA2578541612DCDC2c.1023+12G>C (n.1023+12G>C)
c.282+12G>C (n.282+12G>C)
6g.24204990C>TCA2578541613DCDC2c.1023+12G>A (n.1023+12G>A)
c.282+12G>A (n.282+12G>A)
6g.24204991A>GCA2740094272DCDC2c.1023+11T>C (n.1023+11T>C)
c.282+11T>C (n.282+11T>C)
ClinVar
6g.24204992T>CCA3654540DCDC2c.1023+10A>G (n.1023+10A>G)
c.282+10A>G (n.282+10A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24204992T>GCA2578541616DCDC2c.1023+10A>C (n.1023+10A>C)
c.282+10A>C (n.282+10A>C)
gnomAD v4
6g.24204992T=CA1616385249DCDC2c.1023+10A= (n.1023+10A=)
c.282+10A= (n.282+10A=)
6g.24204993G>ACA566291247DCDC2c.1023+9C>T (n.1023+9C>T)
c.282+9C>T (n.282+9C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24204993G=CA1616385250DCDC2c.1023+9C= (n.1023+9C=)
c.282+9C= (n.282+9C=)
6g.24204994G>TCA2770322497DCDC2c.1023+8C>A (n.1023+8C>A)
c.282+8C>A (n.282+8C>A)
6g.24204996G>ACA2578541617DCDC2c.1023+6C>T (n.1023+6C>T)
c.282+6C>T (n.282+6C>T)
gnomAD v4
6g.24204997A>GCA645544647DCDC2c.1023+5T>C (n.1023+5T>C)
c.282+5T>C (n.282+5T>C)
COSMIC COSMIC
6g.24204998T>CCA2677514570DCDC2c.1023+4A>G (n.1023+4A>G)
c.282+4A>G (n.282+4A>G)
gnomAD v4
6g.24204999T>CCA566291248DCDC2c.1023+3A>G (n.1023+3A>G)
c.282+3A>G (n.282+3A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24204999T=CA1616385251DCDC2c.1023+3A= (n.1023+3A=)
c.282+3A= (n.282+3A=)
6g.24205000A=CA1616385252DCDC2c.1023+2T= (n.1023+2T=)
c.282+2T= (n.282+2T=)
6g.24205000A>CCA363277375DCDC2c.1023+2T>G (n.1023+2T>G)
c.282+2T>G (n.282+2T>G)
6g.24205000A>GCA3654541DCDC2c.1023+2T>C (n.1023+2T>C)
c.282+2T>C (n.282+2T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24205000A>TCA363277376DCDC2c.1023+2T>A (n.1023+2T>A)
c.282+2T>A (n.282+2T>A)
6g.24205001C>ACA363277377DCDC2c.1023+1G>T (n.1023+1G>T)
c.282+1G>T (n.282+1G>T)
6g.24205001C=CA1616385253DCDC2c.1023+1G= (n.1023+1G=)
c.282+1G= (n.282+1G=)
6g.24205001C>GCA363277378DCDC2c.1023+1G>C (n.1023+1G>C)
c.282+1G>C (n.282+1G>C)
dbSNP
6g.24205001C>TCA136625684DCDC2c.1023+1G>A (n.1023+1G>A)
c.282+1G>A (n.282+1G>A)
dbSNP gnomAD v4
6g.24205002C>ACA363277379DCDC2c.1023G>T (p.Gln341His)
c.282G>T (p.Gln94His)
6g.24205002C=CA1616385254DCDC2c.1023G= (p.Gln341=)
c.282G= (p.Gln94=)
6g.24205002C>GCA363277380DCDC2c.1023G>C (p.Gln341His)
c.282G>C (p.Gln94His)
dbSNP gnomAD v3 gnomAD v4
6g.24205002C>TCA448963127DCDC2c.1023G>A (p.Gln341=)
c.282G>A (p.Gln94=)
6g.24205003T>ACA363277381DCDC2c.1022A>T (p.Gln341Leu)
c.281A>T (p.Gln94Leu)
6g.24205003T>CCA363277382DCDC2c.1022A>G (p.Gln341Arg)
c.281A>G (p.Gln94Arg)
6g.24205003T>GCA363277383DCDC2c.1022A>C (p.Gln341Pro)
c.281A>C (p.Gln94Pro)
6g.24205004G>ACA363277384DCDC2c.1021C>T (p.Gln341Ter)
c.280C>T (p.Gln94Ter)
6g.24205004G>CCA363277385DCDC2c.1021C>G (p.Gln341Glu)
c.280C>G (p.Gln94Glu)
dbSNP gnomAD v4
6g.24205004G=CA1616385255DCDC2c.1021C= (p.Gln341=)
c.280C= (p.Gln94=)
6g.24205004G>TCA363277386DCDC2c.1021C>A (p.Gln341Lys)
c.280C>A (p.Gln94Lys)
6g.24205005A>CCA363277388DCDC2c.1020T>G (p.Asp340Glu)
c.279T>G (p.Asp93Glu)
6g.24205005A>GCA448963284DCDC2c.1020T>C (p.Asp340=)
c.279T>C (p.Asp93=)
6g.24205005A>TCA363277387DCDC2c.1020T>A (p.Asp340Glu)
c.279T>A (p.Asp93Glu)
gnomAD v4
6g.24205006T>ACA363277389DCDC2c.1019A>T (p.Asp340Val)
c.278A>T (p.Asp93Val)
gnomAD v4
6g.24205006T>CCA363277390DCDC2c.1019A>G (p.Asp340Gly)
c.278A>G (p.Asp93Gly)
6g.24205006T>GCA363277391DCDC2c.1019A>C (p.Asp340Ala)
c.278A>C (p.Asp93Ala)
6g.24205007C>ACA363277392DCDC2c.1018G>T (p.Asp340Tyr)
c.277G>T (p.Asp93Tyr)
6g.24205007C=CA1616385256DCDC2c.1018G= (p.Asp340=)
c.277G= (p.Asp93=)
6g.24205007C>GCA363277393DCDC2c.1018G>C (p.Asp340His)
c.277G>C (p.Asp93His)
gnomAD v4
6g.24205007C>TCA363277394DCDC2c.1018G>A (p.Asp340Asn)
c.277G>A (p.Asp93Asn)
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.24205008delCA2677514571DCDC2c.1017del (p.Asp340IlefsTer7)
c.276del (p.Asp93IlefsTer7)
gnomAD v4
6g.24205008G>ACA3654542DCDC2c.1017C>T (p.Val339=)
c.276C>T (p.Val92=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24205008G>CCA448963289DCDC2c.1017C>G (p.Val339=)
c.276C>G (p.Val92=)
6g.24205008G=CA1616385257DCDC2c.1017C= (p.Val339=)
c.276C= (p.Val92=)
6g.24205008G>TCA448963288DCDC2c.1017C>A (p.Val339=)
c.276C>A (p.Val92=)
gnomAD v4
6g.24205009A>CCA363277395DCDC2c.1016T>G (p.Val339Gly)
c.275T>G (p.Val92Gly)
6g.24205009A>GCA363277396DCDC2c.1016T>C (p.Val339Ala)
c.275T>C (p.Val92Ala)
6g.24205009A>TCA363277397DCDC2c.1016T>A (p.Val339Asp)
c.275T>A (p.Val92Asp)
6g.24205010C>ACA363277398DCDC2c.1015G>T (p.Val339Phe)
c.274G>T (p.Val92Phe)
gnomAD v4
6g.24205010C>GCA363277399DCDC2c.1015G>C (p.Val339Leu)
c.274G>C (p.Val92Leu)
6g.24205010C>TCA363277400DCDC2c.1015G>A (p.Val339Ile)
c.274G>A (p.Val92Ile)
6g.24205011T>ACA448963291DCDC2c.1014A>T (p.Pro338=)
c.273A>T (p.Pro91=)
6g.24205011T>CCA448963293DCDC2c.1014A>G (p.Pro338=)
c.273A>G (p.Pro91=)
gnomAD v4
6g.24205011T>GCA448963292DCDC2c.1014A>C (p.Pro338=)
c.273A>C (p.Pro91=)
6g.24205012G>ACA363277403DCDC2c.1013C>T (p.Pro338Leu)
c.272C>T (p.Pro91Leu)
6g.24205012G>CCA363277402DCDC2c.1013C>G (p.Pro338Arg)
c.272C>G (p.Pro91Arg)
6g.24205012G>TCA363277401DCDC2c.1013C>A (p.Pro338Gln)
c.272C>A (p.Pro91Gln)
6g.24205013G>ACA363277404DCDC2c.1012C>T (p.Pro338Ser)
c.271C>T (p.Pro91Ser)
gnomAD v4
6g.24205013G>CCA363277405DCDC2c.1012C>G (p.Pro338Ala)
c.271C>G (p.Pro91Ala)
6g.24205013G>TCA363277406DCDC2c.1012C>A (p.Pro338Thr)
c.271C>A (p.Pro91Thr)
6g.24205014A>CCA448963294DCDC2c.1011T>G (p.Val337=)
c.270T>G (p.Val90=)
6g.24205014A>GCA448963296DCDC2c.1011T>C (p.Val337=)
c.270T>C (p.Val90=)
6g.24205014A>TCA448963297DCDC2c.1011T>A (p.Val337=)
c.270T>A (p.Val90=)
6g.24205015A>CCA363277407DCDC2c.1010T>G (p.Val337Gly)
c.269T>G (p.Val90Gly)
6g.24205015A>GCA363277408DCDC2c.1010T>C (p.Val337Ala)
c.269T>C (p.Val90Ala)
6g.24205015A>TCA363277409DCDC2c.1010T>A (p.Val337Asp)
c.269T>A (p.Val90Asp)
6g.24205016C>ACA363277410DCDC2c.1009G>T (p.Val337Phe)
c.268G>T (p.Val90Phe)
6g.24205016C=CA1616385258DCDC2c.1009G= (p.Val337=)
c.268G= (p.Val90=)
6g.24205016C>GCA3654543DCDC2c.1009G>C (p.Val337Leu)
c.268G>C (p.Val90Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24205016C>TCA363277411DCDC2c.1009G>A (p.Val337Ile)
c.268G>A (p.Val90Ile)
6g.24205017C>ACA363277412DCDC2c.1008G>T (p.Glu336Asp)
c.267G>T (p.Glu89Asp)
6g.24205017C>GCA363277413DCDC2c.1008G>C (p.Glu336Asp)
c.267G>C (p.Glu89Asp)
gnomAD v4
6g.24205017C>TCA448963300DCDC2c.1008G>A (p.Glu336=)
c.267G>A (p.Glu89=)
gnomAD v4
6g.24205018T>ACA363277414DCDC2c.1007A>T (p.Glu336Val)
c.266A>T (p.Glu89Val)
6g.24205018T>CCA363277415DCDC2c.1007A>G (p.Glu336Gly)
c.266A>G (p.Glu89Gly)
6g.24205018T>GCA363277416DCDC2c.1007A>C (p.Glu336Ala)
c.266A>C (p.Glu89Ala)
6g.24205019C>ACA363277418DCDC2c.1006G>T (p.Glu336Ter)
c.265G>T (p.Glu89Ter)
6g.24205019C>GCA363277419DCDC2c.1006G>C (p.Glu336Gln)
c.265G>C (p.Glu89Gln)
6g.24205019C>TCA363277417DCDC2c.1006G>A (p.Glu336Lys)
c.265G>A (p.Glu89Lys)
6g.24205020A>CCA448963301DCDC2c.1005T>G (p.Val335=)
c.264T>G (p.Val88=)
6g.24205020A>GCA448963303DCDC2c.1005T>C (p.Val335=)
c.264T>C (p.Val88=)
6g.24205020A>TCA448963304DCDC2c.1005T>A (p.Val335=)
c.264T>A (p.Val88=)
6g.24205021A>CCA363277420DCDC2c.1004T>G (p.Val335Gly)
c.263T>G (p.Val88Gly)
6g.24205021A>GCA363277421DCDC2c.1004T>C (p.Val335Ala)
c.263T>C (p.Val88Ala)
6g.24205021A>TCA363277422DCDC2c.1004T>A (p.Val335Asp)
c.263T>A (p.Val88Asp)
6g.24205022C>ACA363277423DCDC2c.1003G>T (p.Val335Phe)
c.262G>T (p.Val88Phe)
gnomAD v4
6g.24205022C=CA1616385259DCDC2c.1003G= (p.Val335=)
c.262G= (p.Val88=)
6g.24205022C>GCA363277424DCDC2c.1003G>C (p.Val335Leu)
c.262G>C (p.Val88Leu)
gnomAD v4
6g.24205022C>TCA363277425DCDC2c.1003G>A (p.Val335Ile)
c.262G>A (p.Val88Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24205023C>ACA363277427DCDC2c.1002G>T (p.Gln334His)
c.261G>T (p.Gln87His)
6g.24205023C>GCA363277426DCDC2c.1002G>C (p.Gln334His)
c.261G>C (p.Gln87His)
6g.24205023C>TCA448963305DCDC2c.1002G>A (p.Gln334=)
c.261G>A (p.Gln87=)
6g.24205024T>ACA363277428DCDC2c.1001A>T (p.Gln334Leu)
c.260A>T (p.Gln87Leu)
6g.24205024T>CCA363277429DCDC2c.1001A>G (p.Gln334Arg)
c.260A>G (p.Gln87Arg)
gnomAD v4
6g.24205024T>GCA363277430DCDC2c.1001A>C (p.Gln334Pro)
c.260A>C (p.Gln87Pro)
gnomAD v4
6g.24205025G>ACA363277431DCDC2c.1000C>T (p.Gln334Ter)
c.259C>T (p.Gln87Ter)
6g.24205025G>CCA363277432DCDC2c.1000C>G (p.Gln334Glu)
c.259C>G (p.Gln87Glu)
6g.24205025G>TCA363277433DCDC2c.1000C>A (p.Gln334Lys)
c.259C>A (p.Gln87Lys)
6g.24205026A=CA1616385260DCDC2c.999T= (p.Thr333=)
c.258T= (p.Thr86=)
6g.24205026A>CCA448963308DCDC2c.999T>G (p.Thr333=)
c.258T>G (p.Thr86=)
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.24205026A>GCA448963309DCDC2c.999T>C (p.Thr333=)
c.258T>C (p.Thr86=)
6g.24205026A>TCA448963307DCDC2c.999T>A (p.Thr333=)
c.258T>A (p.Thr86=)
6g.24205027G>ACA363277434DCDC2c.998C>T (p.Thr333Ile)
c.257C>T (p.Thr86Ile)
6g.24205027G>CCA363277436DCDC2c.998C>G (p.Thr333Ser)
c.257C>G (p.Thr86Ser)
6g.24205027G=CA1616385261DCDC2c.998C= (p.Thr333=)
c.257C= (p.Thr86=)
6g.24205027G>TCA363277435DCDC2c.998C>A (p.Thr333Asn)
c.257C>A (p.Thr86Asn)
dbSNP gnomAD v2 gnomAD v4
6g.24205028T>ACA363277437DCDC2c.997A>T (p.Thr333Ser)
c.256A>T (p.Thr86Ser)
6g.24205028T>CCA363277438DCDC2c.997A>G (p.Thr333Ala)
c.256A>G (p.Thr86Ala)
dbSNP
6g.24205028T>GCA363277439DCDC2c.997A>C (p.Thr333Pro)
c.256A>C (p.Thr86Pro)
6g.24205028T=CA1616385262DCDC2c.997A= (p.Thr333=)
c.256A= (p.Thr86=)
6g.24205029A=CA1616385263DCDC2c.996T= (p.Asp332=)
c.255T= (p.Asp85=)
6g.24205029A>CCA363277440DCDC2c.996T>G (p.Asp332Glu)
c.255T>G (p.Asp85Glu)
6g.24205029A>GCA448963313DCDC2c.996T>C (p.Asp332=)
c.255T>C (p.Asp85=)
dbSNP
6g.24205029A>TCA363277441DCDC2c.996T>A (p.Asp332Glu)
c.255T>A (p.Asp85Glu)
6g.24205030T>ACA363277442DCDC2c.995A>T (p.Asp332Val)
c.254A>T (p.Asp85Val)
COSMIC COSMIC
6g.24205030T>CCA3654544DCDC2c.995A>G (p.Asp332Gly)
c.254A>G (p.Asp85Gly)
dbSNP ExAC gnomAD v4
6g.24205030T>GCA363277443DCDC2c.995A>C (p.Asp332Ala)
c.254A>C (p.Asp85Ala)
6g.24205030T=CA1616385264DCDC2c.995A= (p.Asp332=)
c.254A= (p.Asp85=)
6g.24205031C>ACA363277444DCDC2c.994G>T (p.Asp332Tyr)
c.253G>T (p.Asp85Tyr)
COSMIC
6g.24205031C>GCA363277445DCDC2c.994G>C (p.Asp332His)
c.253G>C (p.Asp85His)
6g.24205031C>TCA363277446DCDC2c.994G>A (p.Asp332Asn)
c.253G>A (p.Asp85Asn)
6g.24205032T>ACA363277448DCDC2c.993A>T (p.Glu331Asp)
c.252A>T (p.Glu84Asp)
6g.24205032T>CCA448963317DCDC2c.993A>G (p.Glu331=)
c.252A>G (p.Glu84=)
6g.24205032T>GCA363277447DCDC2c.993A>C (p.Glu331Asp)
c.252A>C (p.Glu84Asp)
6g.24205033T>ACA363277449DCDC2c.992A>T (p.Glu331Val)
c.251A>T (p.Glu84Val)
ClinVar
6g.24205033T>CCA363277451DCDC2c.992A>G (p.Glu331Gly)
c.251A>G (p.Glu84Gly)
gnomAD v4
6g.24205033T>GCA363277450DCDC2c.992A>C (p.Glu331Ala)
c.251A>C (p.Glu84Ala)
6g.24205034C>ACA363277452DCDC2c.991G>T (p.Glu331Ter)
c.250G>T (p.Glu84Ter)
6g.24205034C>GCA363277454DCDC2c.991G>C (p.Glu331Gln)
c.250G>C (p.Glu84Gln)
6g.24205034C>TCA363277453DCDC2c.991G>A (p.Glu331Lys)
c.250G>A (p.Glu84Lys)
6g.24205035A>CCA363277455DCDC2c.990T>G (p.Asp330Glu)
c.249T>G (p.Asp83Glu)
6g.24205035A>GCA448963319DCDC2c.990T>C (p.Asp330=)
c.249T>C (p.Asp83=)
gnomAD v4
6g.24205035A>TCA363277456DCDC2c.990T>A (p.Asp330Glu)
c.249T>A (p.Asp83Glu)
6g.24205036T>ACA363277457DCDC2c.989A>T (p.Asp330Val)
c.248A>T (p.Asp83Val)
gnomAD v4
6g.24205036T>CCA363277458DCDC2c.989A>G (p.Asp330Gly)
c.248A>G (p.Asp83Gly)
dbSNP gnomAD v3 gnomAD v4
6g.24205036T>GCA363277459DCDC2c.989A>C (p.Asp330Ala)
c.248A>C (p.Asp83Ala)
6g.24205036T=CA1616385265DCDC2c.989A= (p.Asp330=)
c.248A= (p.Asp83=)
6g.24205037C>ACA363277460DCDC2c.988G>T (p.Asp330Tyr)
c.247G>T (p.Asp83Tyr)
6g.24205037C>GCA363277461DCDC2c.988G>C (p.Asp330His)
c.247G>C (p.Asp83His)
6g.24205037C>TCA363277462DCDC2c.988G>A (p.Asp330Asn)
c.247G>A (p.Asp83Asn)

Number of alleles fetched