Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.102851253_102856067delCA916084430PAHc.510-735_912+434del
c.495-735_897+434del
ClinVar
12g.102854491_102855291delCA658656325PAHc.553_706+647del
c.538_691+647del
c.553_*296del
ClinVar
12g.102855177_102855353delCA16020833PAHc.510-19_667del
c.495-19_652del
n.606-19_763del
12g.102855216A=CA2059449387PAHc.626T= (p.Ile209=)
c.611T= (p.Ile204=)
n.722T=
12g.102855216A>CCA386296683PAHc.626T>G (p.Ile209Ser)
c.611T>G (p.Ile204Ser)
n.722T>G
12g.102855216A>GCA386296684PAHc.626T>C (p.Ile209Thr)
c.611T>C (p.Ile204Thr)
n.722T>C
gnomAD
12g.102855216A>TCA386296685PAHc.626T>A (p.Ile209Asn)
c.611T>A (p.Ile204Asn)
n.722T>A
gnomAD
12g.102855217T>ACA386296686PAHc.625A>T (p.Ile209Phe)
c.610A>T (p.Ile204Phe)
n.721A>T
12g.102855217T>CCA386296687PAHc.625A>G (p.Ile209Val)
c.610A>G (p.Ile204Val)
n.721A>G
12g.102855217T>GCA386296688PAHc.625A>C (p.Ile209Leu)
c.610A>C (p.Ile204Leu)
n.721A>C
12g.102855218G>ACA481578548PAHc.624C>T (p.His208=)
c.609C>T (p.His203=)
n.720C>T
12g.102855218G>CCA386296690PAHc.624C>G (p.His208Gln)
c.609C>G (p.His203Gln)
n.720C>G
12g.102855218G=CA2059449389PAHc.624C= (p.His208=)
c.609C= (p.His203=)
n.720C=
12g.102855218G>TCA386296689PAHc.624C>A (p.His208Gln)
c.609C>A (p.His203Gln)
n.720C>A
12g.102855219T>ACA386296691PAHc.623A>T (p.His208Leu)
c.608A>T (p.His203Leu)
n.719A>T
12g.102855219T>CCA386296692PAHc.623A>G (p.His208Arg)
c.608A>G (p.His203Arg)
n.719A>G
12g.102855219T>GCA386296693PAHc.623A>C (p.His208Pro)
c.608A>C (p.His203Pro)
n.719A>C
12g.102855220G>ACA386296694PAHc.622C>T (p.His208Tyr)
c.607C>T (p.His203Tyr)
n.718C>T
12g.102855220G>CCA386296695PAHc.622C>G (p.His208Asp)
c.607C>G (p.His203Asp)
n.718C>G
12g.102855220G>TCA386296696PAHc.622C>A (p.His208Asn)
c.607C>A (p.His203Asn)
n.718C>A
12g.102855221A>CCA386296697PAHc.621T>G (p.Asn207Lys)
c.606T>G (p.Asn202Lys)
n.717T>G
12g.102855221A>GCA481578550PAHc.621T>C (p.Asn207=)
c.606T>C (p.Asn202=)
n.717T>C
12g.102855221A>TCA386296698PAHc.621T>A (p.Asn207Lys)
c.606T>A (p.Asn202Lys)
n.717T>A
12g.102855222T>ACA386296699PAHc.620A>T (p.Asn207Ile)
c.605A>T (p.Asn202Ile)
n.716A>T
12g.102855222T>CCA229665PAHc.620A>G (p.Asn207Ser)
c.605A>G (p.Asn202Ser)
n.716A>G
ClinVar dbSNP COSMIC
12g.102855222T>GCA386296700PAHc.620A>C (p.Asn207Thr)
c.605A>C (p.Asn202Thr)
n.716A>C
12g.102855222T=CA2059449392PAHc.620A= (p.Asn207=)
c.605A= (p.Asn202=)
n.716A=
12g.102855223T>ACA386296701PAHc.619A>T (p.Asn207Tyr)
c.604A>T (p.Asn202Tyr)
n.715A>T
12g.102855223T>CCA229664PAHc.619A>G (p.Asn207Asp)
c.604A>G (p.Asn202Asp)
n.715A>G
ClinVar dbSNP
12g.102855223T>GCA386296702PAHc.619A>C (p.Asn207His)
c.604A>C (p.Asn202His)
n.715A>C
12g.102855223T=CA2059449395PAHc.619A= (p.Asn207=)
c.604A= (p.Asn202=)
n.715A=
12g.102855224G>ACA481578553PAHc.618C>T (p.Tyr206=)
c.603C>T (p.Tyr201=)
n.714C>T
12g.102855224G>CCA229662PAHc.618C>G (p.Tyr206Ter)
c.603C>G (p.Tyr201Ter)
n.714C>G
ClinVar dbSNP
12g.102855224G=CA2059449405PAHc.618C= (p.Tyr206=)
c.603C= (p.Tyr201=)
n.714C=
12g.102855224G>TCA6748887PAHc.618C>A (p.Tyr206Ter)
c.603C>A (p.Tyr201Ter)
n.714C>A
ClinVar dbSNP ExAC gnomAD
12g.102855225T>ACA386296703PAHc.617A>T (p.Tyr206Phe)
c.602A>T (p.Tyr201Phe)
n.713A>T
12g.102855225T>CCA229660PAHc.617A>G (p.Tyr206Cys)
c.602A>G (p.Tyr201Cys)
n.713A>G
ClinVar dbSNP
12g.102855225T>GCA386296704PAHc.617A>C (p.Tyr206Ser)
c.602A>C (p.Tyr201Ser)
n.713A>C
12g.102855225T=CA2059449415PAHc.617A= (p.Tyr206=)
c.602A= (p.Tyr201=)
n.713A=
12g.102855226A=CA2059449418PAHc.616T= (p.Tyr206=)
c.601T= (p.Tyr201=)
n.712T=
12g.102855226A>CCA229659PAHc.616T>G (p.Tyr206Asp)
c.601T>G (p.Tyr201Asp)
n.712T>G
ClinVar dbSNP
12g.102855226A>GCA386296706PAHc.616T>C (p.Tyr206His)
c.601T>C (p.Tyr201His)
n.712T>C
12g.102855226A>TCA386296705PAHc.616T>A (p.Tyr206Asn)
c.601T>A (p.Tyr201Asn)
n.712T>A
12g.102855227C>ACA386296707PAHc.615G>T (p.Glu205Asp)
c.600G>T (p.Glu200Asp)
n.711G>T
12g.102855227C=CA2059449426PAHc.615G= (p.Glu205=)
c.600G= (p.Glu200=)
n.711G=
12g.102855227C>GCA312804PAHc.615G>C (p.Glu205Asp)
c.600G>C (p.Glu200Asp)
n.711G>C
dbSNP gnomAD
12g.102855227C>TCA6748888PAHc.615G>A (p.Glu205=)
c.600G>A (p.Glu200=)
n.711G>A
dbSNP ExAC gnomAD
12g.102855227_102855249delinsCTCATAGCAAGCATGGGTTTTATCA2059449425PAHc.593_615delinsATAAAACCCATGCTTGCTATGAG (p.Tyr198=)
c.578_600delinsATAAAACCCATGCTTGCTATGAG (p.Tyr193=)
n.689_711delinsATAAAACCCATGCTTGCTATGAG
12g.102855228T>ACA386296708PAHc.614A>T (p.Glu205Val)
c.599A>T (p.Glu200Val)
n.710A>T
12g.102855228T>CCA386296709PAHc.614A>G (p.Glu205Gly)
c.599A>G (p.Glu200Gly)
n.710A>G

Number of alleles fetched