| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.78964406C= | CA1557701713 | ARSB | c.690+10G= (n.690+10G=) n.761+10G= | |
| 5 | g.78964406C>T | CA560767927 | ARSB | c.690+10G>A (n.690+10G>A) n.761+10G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78964407A= | CA1557701714 | ARSB | c.690+9T= (n.690+9T=) n.761+9T= | |
| 5 | g.78964407A>G | CA3318209 | ARSB | c.690+9T>C (n.690+9T>C) n.761+9T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964410del | CA2573139970 | ARSB | c.690+9del (n.690+9del) n.761+9del | ClinVar dbSNP |
| 5 | g.78964414A= | CA1557701715 | ARSB | c.690+2T= (n.690+2T=) n.761+2T= | |
| 5 | g.78964414A>C | CA360192947 | ARSB | c.690+2T>G (n.690+2T>G) n.761+2T>G | ClinVar |
| 5 | g.78964414A>G | CA360192948 | ARSB | c.690+2T>C (n.690+2T>C) n.761+2T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78964414A>T | CA360192950 | ARSB | c.690+2T>A (n.690+2T>A) n.761+2T>A | |
| 5 | g.78964415C>A | CA360192952 | ARSB | c.690+1G>T (n.690+1G>T) n.761+1G>T | |
| 5 | g.78964415C= | CA1557701716 | ARSB | c.690+1G= (n.690+1G=) n.761+1G= | |
| 5 | g.78964415C>G | CA360192953 | ARSB | c.690+1G>C (n.690+1G>C) n.761+1G>C | |
| 5 | g.78964415C>T | CA360192955 | ARSB | c.690+1G>A (n.690+1G>A) n.761+1G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78964416C>A | CA360192956 | ARSB | c.690G>T (p.Lys230Asn) n.761G>T | |
| 5 | g.78964416C>G | CA360192958 | ARSB | c.690G>C (p.Lys230Asn) n.761G>C | |
| 5 | g.78964416C>T | CA445101362 | ARSB | c.690G>A (p.Lys230=) n.761G>A | COSMIC COSMIC |
| 5 | g.78964417T>A | CA360192959 | ARSB | c.689A>T (p.Lys230Met) n.760A>T | |
| 5 | g.78964417T>C | CA3318210 | ARSB | c.689A>G (p.Lys230Arg) n.760A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964417T>G | CA360192961 | ARSB | c.689A>C (p.Lys230Thr) n.760A>C | gnomAD v4 |
| 5 | g.78964417T= | CA1557701717 | ARSB | c.689A= (p.Lys230=) n.760A= | |
| 5 | g.78964418T>A | CA360192965 | ARSB | c.688A>T (p.Lys230Ter) n.759A>T | |
| 5 | g.78964418T>C | CA360192963 | ARSB | c.688A>G (p.Lys230Glu) n.759A>G | |
| 5 | g.78964418T>G | CA360192964 | ARSB | c.688A>C (p.Lys230Gln) n.759A>C | |
| 5 | g.78964419C>A | CA360192968 | ARSB | c.687G>T (p.Glu229Asp) n.758G>T | |
| 5 | g.78964419C>G | CA360192969 | ARSB | c.687G>C (p.Glu229Asp) n.758G>C | |
| 5 | g.78964419C>T | CA445101375 | ARSB | c.687G>A (p.Glu229=) n.758G>A | |
| 5 | g.78964420T>A | CA360192971 | ARSB | c.686A>T (p.Glu229Val) n.757A>T | |
| 5 | g.78964420T>C | CA360192972 | ARSB | c.686A>G (p.Glu229Gly) n.757A>G | |
| 5 | g.78964420T>G | CA360192974 | ARSB | c.686A>C (p.Glu229Ala) n.757A>C | gnomAD v4 |
| 5 | g.78964421C>A | CA360192976 | ARSB | c.685G>T (p.Glu229Ter) n.756G>T | |
| 5 | g.78964421C= | CA1557701718 | ARSB | c.685G= (p.Glu229=) n.756G= | |
| 5 | g.78964421C>G | CA360192978 | ARSB | c.685G>C (p.Glu229Gln) n.756G>C | dbSNP COSMIC COSMIC |
| 5 | g.78964421C>T | CA360192979 | ARSB | c.685G>A (p.Glu229Lys) n.756G>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78964422T>A | CA445101379 | ARSB | c.684A>T (p.Pro228=) n.755A>T | |
| 5 | g.78964422T>C | CA445101381 | ARSB | c.684A>G (p.Pro228=) n.755A>G | |
| 5 | g.78964422T>G | CA445101386 | ARSB | c.684A>C (p.Pro228=) n.755A>C | |
| 5 | g.78964423G>A | CA360192981 | ARSB | c.683C>T (p.Pro228Leu) n.754C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964423G>C | CA360192982 | ARSB | c.683C>G (p.Pro228Arg) n.754C>G | |
| 5 | g.78964423G= | CA1557701719 | ARSB | c.683C= (p.Pro228=) n.754C= | |
| 5 | g.78964423G>T | CA360192984 | ARSB | c.683C>A (p.Pro228Gln) n.754C>A | |
| 5 | g.78964424G>A | CA360192989 | ARSB | c.682C>T (p.Pro228Ser) n.753C>T | gnomAD v4 |
| 5 | g.78964424G>C | CA360192987 | ARSB | c.682C>G (p.Pro228Ala) n.753C>G | dbSNP gnomAD v4 |
| 5 | g.78964424G= | CA1557701721 | ARSB | c.682C= (p.Pro228=) n.753C= | |
| 5 | g.78964424G>T | CA360192986 | ARSB | c.682C>A (p.Pro228Thr) n.753C>A | |
| 5 | g.78964424_78964428delinsGTGGA | CA1557701720 | ARSB | c.678_682delinsTCCAC (p.His226=) n.749_753delinsTCCAC | |
| 5 | g.78964425T>A | CA445101398 | ARSB | c.681A>T (p.Pro227=) n.752A>T | |
| 5 | g.78964425T>C | CA445101399 | ARSB | c.681A>G (p.Pro227=) n.752A>G | |
| 5 | g.78964425T>G | CA445101402 | ARSB | c.681A>C (p.Pro227=) n.752A>C | |
| 5 | g.78964428_78964431del | CA3318211 | ARSB | c.678_681del (p.Pro227GlnfsTer25) n.749_752del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78964426G>A | CA360192993 | ARSB | c.680C>T (p.Pro227Leu) n.751C>T | |
| 5 | g.78964426G>C | CA360192992 | ARSB | c.680C>G (p.Pro227Arg) n.751C>G | |
| 5 | g.78964426G= | CA1557701722 | ARSB | c.680C= (p.Pro227=) n.751C= | |
| 5 | g.78964426G>T | CA360192995 | ARSB | c.680C>A (p.Pro227Gln) n.751C>A | ClinVar dbSNP gnomAD v4 |
| 5 | g.78964427del | CA2580073470 | ARSB | c.680del (p.Pro227HisfsTer26) n.751del | ClinVar |
| 5 | g.78964427G>A | CA360192997 | ARSB | c.679C>T (p.Pro227Ser) n.750C>T | dbSNP gnomAD v4 |
| 5 | g.78964427G>C | CA360192998 | ARSB | c.679C>G (p.Pro227Ala) n.750C>G | |
| 5 | g.78964427G= | CA1557701723 | ARSB | c.679C= (p.Pro227=) n.750C= | |
| 5 | g.78964427G>T | CA360193000 | ARSB | c.679C>A (p.Pro227Thr) n.750C>A | |
| 5 | g.78964428A= | CA1557701724 | ARSB | c.678T= (p.His226=) n.749T= | |
| 5 | g.78964428A>C | CA360193002 | ARSB | c.678T>G (p.His226Gln) n.749T>G | |
| 5 | g.78964428A>G | CA445101425 | ARSB | c.678T>C (p.His226=) n.749T>C | ClinVar dbSNP |
| 5 | g.78964428A>T | CA360193004 | ARSB | c.678T>A (p.His226Gln) n.749T>A | |
| 5 | g.78964429T>A | CA360193005 | ARSB | c.677A>T (p.His226Leu) n.748A>T | |
| 5 | g.78964429T>C | CA360193007 | ARSB | c.677A>G (p.His226Arg) n.748A>G | |
| 5 | g.78964429T>G | CA360193009 | ARSB | c.677A>C (p.His226Pro) n.748A>C | |
| 5 | g.78964430G>A | CA360193010 | ARSB | c.676C>T (p.His226Tyr) n.747C>T | |
| 5 | g.78964430G>C | CA360193011 | ARSB | c.676C>G (p.His226Asp) n.747C>G | |
| 5 | g.78964430G>T | CA360193013 | ARSB | c.676C>A (p.His226Asn) n.747C>A | gnomAD v4 |
| 5 | g.78964431G>A | CA445101458 | ARSB | c.675C>T (p.Asn225=) n.746C>T | |
| 5 | g.78964431G>C | CA360193015 | ARSB | c.675C>G (p.Asn225Lys) n.746C>G | |
| 5 | g.78964431G= | CA1557701725 | ARSB | c.675C= (p.Asn225=) n.746C= | |
| 5 | g.78964431G>T | CA3318212 | ARSB | c.675C>A (p.Asn225Lys) n.746C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964432T>A | CA360193017 | ARSB | c.674A>T (p.Asn225Ile) n.745A>T | |
| 5 | g.78964432T>C | CA360193021 | ARSB | c.674A>G (p.Asn225Ser) n.745A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78964432T>G | CA360193019 | ARSB | c.674A>C (p.Asn225Thr) n.745A>C | |
| 5 | g.78964432T= | CA1557701726 | ARSB | c.674A= (p.Asn225=) n.745A= | |
| 5 | g.78964433T>A | CA360193023 | ARSB | c.673A>T (p.Asn225Tyr) n.744A>T | |
| 5 | g.78964433T>C | CA360193024 | ARSB | c.673A>G (p.Asn225Asp) n.744A>G | gnomAD v4 |
| 5 | g.78964433T>G | CA360193025 | ARSB | c.673A>C (p.Asn225His) n.744A>C | |
| 5 | g.78964434A>C | CA445101472 | ARSB | c.672T>G (p.Thr224=) n.743T>G | |
| 5 | g.78964434A>G | CA445101474 | ARSB | c.672T>C (p.Thr224=) n.743T>C | |
| 5 | g.78964434A>T | CA445101473 | ARSB | c.672T>A (p.Thr224=) n.743T>A | |
| 5 | g.78964435G>A | CA360193027 | ARSB | c.671C>T (p.Thr224Ile) n.742C>T | |
| 5 | g.78964435G>C | CA360193028 | ARSB | c.671C>G (p.Thr224Ser) n.742C>G | gnomAD v4 |
| 5 | g.78964435G>T | CA360193029 | ARSB | c.671C>A (p.Thr224Asn) n.742C>A | |
| 5 | g.78964436T>A | CA360193031 | ARSB | c.670A>T (p.Thr224Ser) n.741A>T | |
| 5 | g.78964436T>C | CA360193032 | ARSB | c.670A>G (p.Thr224Ala) n.741A>G | |
| 5 | g.78964436T>G | CA360193034 | ARSB | c.670A>C (p.Thr224Pro) n.741A>C | COSMIC COSMIC |
| 5 | g.78964437T>A | CA445101484 | ARSB | c.669A>T (p.Ile223=) n.740A>T | |
| 5 | g.78964437T>C | CA360193036 | ARSB | c.669A>G (p.Ile223Met) n.740A>G | |
| 5 | g.78964437T>G | CA445101486 | ARSB | c.669A>C (p.Ile223=) n.740A>C | |
| 5 | g.78964438A>C | CA360193039 | ARSB | c.668T>G (p.Ile223Arg) n.739T>G | |
| 5 | g.78964438A>G | CA360193041 | ARSB | c.668T>C (p.Ile223Thr) n.739T>C | |
| 5 | g.78964438A>T | CA360193038 | ARSB | c.668T>A (p.Ile223Lys) n.739T>A | |
| 5 | g.78964439T>A | CA360193043 | ARSB | c.667A>T (p.Ile223Leu) n.738A>T | |
| 5 | g.78964439T>C | CA3318213 | ARSB | c.667A>G (p.Ile223Val) n.738A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964439T>G | CA360193045 | ARSB | c.667A>C (p.Ile223Leu) n.738A>C | |
| 5 | g.78964439T= | CA1557701727 | ARSB | c.667A= (p.Ile223=) n.738A= | |
| 5 | g.78964440G>A | CA445101503 | ARSB | c.666C>T (p.Leu222=) n.737C>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.78964440G>C | CA445101507 | ARSB | c.666C>G (p.Leu222=) n.737C>G | |
| 5 | g.78964440G= | CA1557701728 | ARSB | c.666C= (p.Leu222=) n.737C= | |
| 5 | g.78964440G>T | CA445101504 | ARSB | c.666C>A (p.Leu222=) n.737C>A | |
| 5 | g.78964441A>C | CA360193047 | ARSB | c.665T>G (p.Leu222Arg) n.736T>G | |
| 5 | g.78964441A>G | CA360193048 | ARSB | c.665T>C (p.Leu222Pro) n.736T>C | |
| 5 | g.78964441A>T | CA360193050 | ARSB | c.665T>A (p.Leu222His) n.736T>A | |
| 5 | g.78964442G>A | CA360193052 | ARSB | c.664C>T (p.Leu222Phe) n.735C>T | |
| 5 | g.78964442G>C | CA360193054 | ARSB | c.664C>G (p.Leu222Val) n.735C>G | |
| 5 | g.78964442G>T | CA360193055 | ARSB | c.664C>A (p.Leu222Ile) n.735C>A | |
| 5 | g.78964443G>A | CA3318214 | ARSB | c.663C>T (p.Ala221=) n.734C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964443G>C | CA445101527 | ARSB | c.663C>G (p.Ala221=) n.734C>G | |
| 5 | g.78964443G= | CA1557701729 | ARSB | c.663C= (p.Ala221=) n.734C= | |
| 5 | g.78964443G>T | CA445101529 | ARSB | c.663C>A (p.Ala221=) n.734C>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78964444G>A | CA360193058 | ARSB | c.662C>T (p.Ala221Val) n.733C>T | |
| 5 | g.78964444G>C | CA360193059 | ARSB | c.662C>G (p.Ala221Gly) n.733C>G | |
| 5 | g.78964444G>T | CA360193061 | ARSB | c.662C>A (p.Ala221Asp) n.733C>A | dbSNP gnomAD v4 |
| 5 | g.78964445C>A | CA360193066 | ARSB | c.661G>T (p.Ala221Ser) n.732G>T | |
| 5 | g.78964445C>G | CA360193064 | ARSB | c.661G>C (p.Ala221Pro) n.732G>C | |
| 5 | g.78964445C>T | CA360193063 | ARSB | c.661G>A (p.Ala221Thr) n.732G>A | |
| 5 | g.78964445_78964447delinsCTA | CA1557701730 | ARSB | c.659_661delinsTAG (p.Ile220=) n.730_732delinsTAG | |
| 5 | g.78964446T>A | CA445101539 | ARSB | c.660A>T (p.Ile220=) n.731A>T | |
| 5 | g.78964446T>C | CA360193068 | ARSB | c.660A>G (p.Ile220Met) n.731A>G | |
| 5 | g.78964446T>G | CA445101543 | ARSB | c.660A>C (p.Ile220=) n.731A>C | |
| 5 | g.78964448_78964449del | CA658822930 | ARSB | c.659_660del (p.Ile220SerfsTer5) n.730_731del | ClinVar dbSNP |
| 5 | g.78964447_78964460del | CA2674368564 | ARSB | c.647_660del (p.Thr216SerfsTer5) n.718_731del | gnomAD v4 |
| 5 | g.78964447del | CA2674368565 | ARSB | c.659del (p.Ile220LysfsTer4) n.730del | ClinVar gnomAD v4 |
| 5 | g.78964447A= | CA1557701731 | ARSB | c.659T= (p.Ile220=) n.730T= | |
| 5 | g.78964447A>C | CA360193070 | ARSB | c.659T>G (p.Ile220Arg) n.730T>G | |
| 5 | g.78964447A>G | CA121104043 | ARSB | c.659T>C (p.Ile220Thr) n.730T>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78964447A>T | CA360193072 | ARSB | c.659T>A (p.Ile220Lys) n.730T>A | |
| 5 | g.78964448T>A | CA360193074 | ARSB | c.658A>T (p.Ile220Leu) n.729A>T | |
| 5 | g.78964448T>C | CA3318215 | ARSB | c.658A>G (p.Ile220Val) n.729A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964448T>G | CA360193076 | ARSB | c.658A>C (p.Ile220Leu) n.729A>C | |
| 5 | g.78964448T= | CA1557701732 | ARSB | c.658A= (p.Ile220=) n.729A= | |
| 5 | g.78964449A= | CA1557701733 | ARSB | c.657T= (p.Ala219=) n.728T= | |
| 5 | g.78964449A>C | CA445101582 | ARSB | c.657T>G (p.Ala219=) n.728T>G | |
| 5 | g.78964449A>G | CA445101585 | ARSB | c.657T>C (p.Ala219=) n.728T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78964449A>T | CA445101588 | ARSB | c.657T>A (p.Ala219=) n.728T>A | |
| 5 | g.78964450G>A | CA3318216 | ARSB | c.656C>T (p.Ala219Val) n.727C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964450G>C | CA360193078 | ARSB | c.656C>G (p.Ala219Gly) n.727C>G | |
| 5 | g.78964450G= | CA1557701734 | ARSB | c.656C= (p.Ala219=) n.727C= | |
| 5 | g.78964450G>T | CA360193080 | ARSB | c.656C>A (p.Ala219Asp) n.727C>A | COSMIC COSMIC |
| 5 | g.78964451C>A | CA360193081 | ARSB | c.655G>T (p.Ala219Ser) n.726G>T | |
| 5 | g.78964451C= | CA1557701735 | ARSB | c.655G= (p.Ala219=) n.726G= | |
| 5 | g.78964451C>G | CA360193083 | ARSB | c.655G>C (p.Ala219Pro) n.726G>C | |
| 5 | g.78964451C>T | CA360193085 | ARSB | c.655G>A (p.Ala219Thr) n.726G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78964452C>A | CA360193088 | ARSB | c.654G>T (p.Arg218Ser) n.725G>T | gnomAD v4 |
| 5 | g.78964452C>G | CA360193086 | ARSB | c.654G>C (p.Arg218Ser) n.725G>C | gnomAD v4 |
| 5 | g.78964452C>T | CA445101598 | ARSB | c.654G>A (p.Arg218=) n.725G>A | ClinVar dbSNP gnomAD v4 |
| 5 | g.78964453C>A | CA360193089 | ARSB | c.653G>T (p.Arg218Met) n.724G>T | |
| 5 | g.78964453C>G | CA360193091 | ARSB | c.653G>C (p.Arg218Thr) n.724G>C | |
| 5 | g.78964453C>T | CA360193093 | ARSB | c.653G>A (p.Arg218Lys) n.724G>A | |
| 5 | g.78964454T>A | CA360193095 | ARSB | c.652A>T (p.Arg218Trp) n.723A>T | |
| 5 | g.78964454T>C | CA360193096 | ARSB | c.652A>G (p.Arg218Gly) n.723A>G | |
| 5 | g.78964454T>G | CA445101618 | ARSB | c.652A>C (p.Arg218=) n.723A>C | |
| 5 | g.78964455T>A | CA360193098 | ARSB | c.651A>T (p.Lys217Asn) n.722A>T | |
| 5 | g.78964455T>C | CA445101631 | ARSB | c.651A>G (p.Lys217=) n.722A>G | |
| 5 | g.78964455T>G | CA360193100 | ARSB | c.651A>C (p.Lys217Asn) n.722A>C | |
| 5 | g.78964456T>A | CA360193104 | ARSB | c.650A>T (p.Lys217Ile) n.721A>T | |
| 5 | g.78964456T>C | CA3318217 | ARSB | c.650A>G (p.Lys217Arg) n.721A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78964456T>G | CA360193102 | ARSB | c.650A>C (p.Lys217Thr) n.721A>C | |
| 5 | g.78964456T= | CA1557701736 | ARSB | c.650A= (p.Lys217=) n.721A= | |
| 5 | g.78964457T>A | CA360193120 | ARSB | c.649A>T (p.Lys217Ter) n.720A>T | |
| 5 | g.78964457T>C | CA360193121 | ARSB | c.649A>G (p.Lys217Glu) n.720A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78964457T>G | CA360193123 | ARSB | c.649A>C (p.Lys217Gln) n.720A>C | |
| 5 | g.78964457T= | CA1557701737 | ARSB | c.649A= (p.Lys217=) n.720A= | |
| 5 | g.78964458G>A | CA445101640 | ARSB | c.648C>T (p.Thr216=) n.719C>T | |
| 5 | g.78964458G>C | CA445101648 | ARSB | c.648C>G (p.Thr216=) n.719C>G | |
| 5 | g.78964458G>T | CA445101650 | ARSB | c.648C>A (p.Thr216=) n.719C>A | |
| 5 | g.78964459G>A | CA3318218 | ARSB | c.647C>T (p.Thr216Ile) n.718C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964459G>C | CA360193126 | ARSB | c.647C>G (p.Thr216Ser) n.718C>G | |
| 5 | g.78964459G= | CA1557701738 | ARSB | c.647C= (p.Thr216=) n.718C= | |
| 5 | g.78964459G>T | CA360193127 | ARSB | c.647C>A (p.Thr216Asn) n.718C>A | |
| 5 | g.78964460T>A | CA360193128 | ARSB | c.646A>T (p.Thr216Ser) n.717A>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78964460T>C | CA360193132 | ARSB | c.646A>G (p.Thr216Ala) n.717A>G | |
| 5 | g.78964460T>G | CA360193130 | ARSB | c.646A>C (p.Thr216Pro) n.717A>C | |
| 5 | g.78964460T= | CA1557701739 | ARSB | c.646A= (p.Thr216=) n.717A= | |
| 5 | g.78964461G>A | CA445101667 | ARSB | c.645C>T (p.Phe215=) n.716C>T | ClinVar |
| 5 | g.78964461G>C | CA360193134 | ARSB | c.645C>G (p.Phe215Leu) n.716C>G | |
| 5 | g.78964461G>T | CA360193135 | ARSB | c.645C>A (p.Phe215Leu) n.716C>A | |
| 5 | g.78964462A>C | CA360193137 | ARSB | c.644T>G (p.Phe215Cys) n.715T>G | |
| 5 | g.78964462A>G | CA360193139 | ARSB | c.644T>C (p.Phe215Ser) n.715T>C | |
| 5 | g.78964462A>T | CA360193141 | ARSB | c.644T>A (p.Phe215Tyr) n.715T>A | |
| 5 | g.78964463A>C | CA360193142 | ARSB | c.643T>G (p.Phe215Val) n.714T>G | |
| 5 | g.78964463A>G | CA360193143 | ARSB | c.643T>C (p.Phe215Leu) n.714T>C | |
| 5 | g.78964463A>T | CA360193145 | ARSB | c.643T>A (p.Phe215Ile) n.714T>A | |
| 5 | g.78964464T>A | CA445101682 | ARSB | c.642A>T (p.Ile214=) n.713A>T | |
| 5 | g.78964464T>C | CA360193147 | ARSB | c.642A>G (p.Ile214Met) n.713A>G | |
| 5 | g.78964464T>G | CA445101676 | ARSB | c.642A>C (p.Ile214=) n.713A>C | |
| 5 | g.78964465A>C | CA360193148 | ARSB | c.641T>G (p.Ile214Arg) n.712T>G | |
| 5 | g.78964465A>G | CA360193150 | ARSB | c.641T>C (p.Ile214Thr) n.712T>C | |
| 5 | g.78964465A>T | CA360193151 | ARSB | c.641T>A (p.Ile214Lys) n.712T>A | |
| 5 | g.78964466T>A | CA360193154 | ARSB | c.640A>T (p.Ile214Leu) n.711A>T | gnomAD v4 |
| 5 | g.78964466T>C | CA360193157 | ARSB | c.640A>G (p.Ile214Val) n.711A>G | gnomAD v4 |
| 5 | g.78964466T>G | CA360193155 | ARSB | c.640A>C (p.Ile214Leu) n.711A>C | |
| 5 | g.78964467G>A | CA445101688 | ARSB | c.639C>T (p.Asn213=) n.710C>T | |
| 5 | g.78964467G>C | CA360193159 | ARSB | c.639C>G (p.Asn213Lys) n.710C>G | |
| 5 | g.78964467G>T | CA360193160 | ARSB | c.639C>A (p.Asn213Lys) n.710C>A | |
| 5 | g.78964468T>A | CA360193161 | ARSB | c.638A>T (p.Asn213Ile) n.709A>T | |
| 5 | g.78964468T>C | CA360193162 | ARSB | c.638A>G (p.Asn213Ser) n.709A>G | |
| 5 | g.78964468T>G | CA360193164 | ARSB | c.638A>C (p.Asn213Thr) n.709A>C | |
| 5 | g.78964469T>A | CA360193169 | ARSB | c.637A>T (p.Asn213Tyr) n.708A>T | |
| 5 | g.78964469T>C | CA360193168 | ARSB | c.637A>G (p.Asn213Asp) n.708A>G | |
| 5 | g.78964469T>G | CA360193166 | ARSB | c.637A>C (p.Asn213His) n.708A>C | |
| 5 | g.78964469_78964476delinsTTGTTGAA | CA1557701740 | ARSB | c.630_637delinsTTCAACAA (p.Tyr210=) n.701_708delinsTTCAACAA | |
| 5 | g.78964470T>A | CA445101698 | ARSB | c.636A>T (p.Thr212=) n.707A>T | |
| 5 | g.78964470T>C | CA445101701 | ARSB | c.636A>G (p.Thr212=) n.707A>G | |
| 5 | g.78964470T>G | CA445101703 | ARSB | c.636A>C (p.Thr212=) n.707A>C | |
| 5 | g.78964471_78964477del | CA658822931 | ARSB | c.630_636del (p.Tyr210Ter) n.701_707del | ClinVar dbSNP |
| 5 | g.78964471G>A | CA360193171 | ARSB | c.635C>T (p.Thr212Ile) n.706C>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.78964471G>C | CA360193173 | ARSB | c.635C>G (p.Thr212Arg) n.706C>G | gnomAD v4 |
| 5 | g.78964471G= | CA1557701741 | ARSB | c.635C= (p.Thr212=) n.706C= | |
| 5 | g.78964471G>T | CA360193175 | ARSB | c.635C>A (p.Thr212Lys) n.706C>A | |
| 5 | g.78964472T>A | CA360193176 | ARSB | c.634A>T (p.Thr212Ser) n.705A>T | |
| 5 | g.78964472T>C | CA360193178 | ARSB | c.634A>G (p.Thr212Ala) n.705A>G | |
| 5 | g.78964472T>G | CA360193180 | ARSB | c.634A>C (p.Thr212Pro) n.705A>C | |
| 5 | g.78964473T>A | CA445101713 | ARSB | c.633A>T (p.Ser211=) n.704A>T | |
| 5 | g.78964473T>C | CA445101717 | ARSB | c.633A>G (p.Ser211=) n.704A>G | |
| 5 | g.78964473T>G | CA445101723 | ARSB | c.633A>C (p.Ser211=) n.704A>C | |
| 5 | g.78964474G>A | CA360193182 | ARSB | c.632C>T (p.Ser211Leu) n.703C>T | |
| 5 | g.78964474G>C | CA360193185 | ARSB | c.632C>G (p.Ser211Ter) n.703C>G | |
| 5 | g.78964474G>T | CA360193183 | ARSB | c.632C>A (p.Ser211Ter) n.703C>A | |
| 5 | g.78964475A>C | CA360193187 | ARSB | c.631T>G (p.Ser211Ala) n.702T>G | |
| 5 | g.78964475A>G | CA360193188 | ARSB | c.631T>C (p.Ser211Pro) n.702T>C | |
| 5 | g.78964475A>T | CA360193190 | ARSB | c.631T>A (p.Ser211Thr) n.702T>A | |
| 5 | g.78964476A>C | CA360193191 | ARSB | c.630T>G (p.Tyr210Ter) n.701T>G | |
| 5 | g.78964476A>G | CA445101740 | ARSB | c.630T>C (p.Tyr210=) n.701T>C | |
| 5 | g.78964476A>T | CA360193193 | ARSB | c.630T>A (p.Tyr210Ter) n.701T>A | |
| 5 | g.78964477T>A | CA360193195 | ARSB | c.629A>T (p.Tyr210Phe) n.700A>T | |
| 5 | g.78964477T>C | CA114609 | ARSB | c.629A>G (p.Tyr210Cys) n.700A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964477T>G | CA360193197 | ARSB | c.629A>C (p.Tyr210Ser) n.700A>C | |
| 5 | g.78964477T= | CA1557701742 | ARSB | c.629A= (p.Tyr210=) n.700A= | |
| 5 | g.78964478A= | CA1557701743 | ARSB | c.628T= (p.Tyr210=) n.699T= | |
| 5 | g.78964478A>C | CA360193198 | ARSB | c.628T>G (p.Tyr210Asp) n.699T>G | |
| 5 | g.78964478A>G | CA3318219 | ARSB | c.628T>C (p.Tyr210His) n.699T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78964478A>T | CA360193199 | ARSB | c.628T>A (p.Tyr210Asn) n.699T>A | |
| 5 | g.78964479C>A | CA360193200 | ARSB | c.627G>T (p.Met209Ile) n.698G>T | |
| 5 | g.78964479C>G | CA360193202 | ARSB | c.627G>C (p.Met209Ile) n.698G>C | |
| 5 | g.78964479C>T | CA360193201 | ARSB | c.627G>A (p.Met209Ile) n.698G>A | gnomAD v4 |
| 5 | g.78964480A= | CA1557701744 | ARSB | c.626T= (p.Met209=) n.697T= | |
| 5 | g.78964480A>C | CA360193203 | ARSB | c.626T>G (p.Met209Arg) n.697T>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78964480A>G | CA360193205 | ARSB | c.626T>C (p.Met209Thr) n.697T>C | dbSNP |
| 5 | g.78964480A>T | CA360193204 | ARSB | c.626T>A (p.Met209Lys) n.697T>A | |
| 5 | g.78964481T>A | CA360193206 | ARSB | c.625A>T (p.Met209Leu) n.696A>T | ClinVar |
| 5 | g.78964481T>C | CA360193207 | ARSB | c.625A>G (p.Met209Val) n.696A>G | dbSNP gnomAD v4 |
| 5 | g.78964481T>G | CA360193208 | ARSB | c.625A>C (p.Met209Leu) n.696A>C | |
| 5 | g.78964481T= | CA1557701745 | ARSB | c.625A= (p.Met209=) n.696A= | |
| 5 | g.78964482A= | CA1557701746 | ARSB | c.624T= (p.Asn208=) n.695T= | |
| 5 | g.78964482A>C | CA360193209 | ARSB | c.624T>G (p.Asn208Lys) n.695T>G | |
| 5 | g.78964482A>G | CA445101783 | ARSB | c.624T>C (p.Asn208=) n.695T>C | |
| 5 | g.78964482A>T | CA360193210 | ARSB | c.624T>A (p.Asn208Lys) n.695T>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78964483T>A | CA360193211 | ARSB | c.623A>T (p.Asn208Ile) n.694A>T | |
| 5 | g.78964483T>C | CA360193212 | ARSB | c.623A>G (p.Asn208Ser) n.694A>G | |
| 5 | g.78964483T>G | CA360193213 | ARSB | c.623A>C (p.Asn208Thr) n.694A>C | |
| 5 | g.78964484T>A | CA360193214 | ARSB | c.622A>T (p.Asn208Tyr) n.693A>T | |
| 5 | g.78964484T>C | CA360193215 | ARSB | c.622A>G (p.Asn208Asp) n.693A>G | |
| 5 | g.78964484T>G | CA360193216 | ARSB | c.622A>C (p.Asn208His) n.693A>C | |
| 5 | g.78964485T>A | CA360193217 | ARSB | c.621A>T (p.Lys207Asn) n.692A>T | |
| 5 | g.78964485T>C | CA445101814 | ARSB | c.621A>G (p.Lys207=) n.692A>G | |
| 5 | g.78964485T>G | CA360193218 | ARSB | c.621A>C (p.Lys207Asn) n.692A>C | |
| 5 | g.78964486T>A | CA360193219 | ARSB | c.620A>T (p.Lys207Ile) n.691A>T | |
| 5 | g.78964486T>C | CA360193221 | ARSB | c.620A>G (p.Lys207Arg) n.691A>G | |
| 5 | g.78964486T>G | CA360193220 | ARSB | c.620A>C (p.Lys207Thr) n.691A>C | |
| 5 | g.78964487T>A | CA360193222 | ARSB | c.619A>T (p.Lys207Ter) n.690A>T | |
| 5 | g.78964487T>C | CA360193223 | ARSB | c.619A>G (p.Lys207Glu) n.690A>G | |
| 5 | g.78964487T>G | CA360193224 | ARSB | c.619A>C (p.Lys207Gln) n.690A>C | |
| 5 | g.78964488A>C | CA360193225 | ARSB | c.618T>G (p.Tyr206Ter) n.689T>G | |
| 5 | g.78964488A>G | CA445101820 | ARSB | c.618T>C (p.Tyr206=) n.689T>C | |
| 5 | g.78964488A>T | CA360193226 | ARSB | c.618T>A (p.Tyr206Ter) n.689T>A | |
| 5 | g.78964489T>A | CA360193227 | ARSB | c.617A>T (p.Tyr206Phe) n.688A>T | |
| 5 | g.78964489T>C | CA3318220 | ARSB | c.617A>G (p.Tyr206Cys) n.688A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78964489T>G | CA360193228 | ARSB | c.617A>C (p.Tyr206Ser) n.688A>C | |
| 5 | g.78964489T= | CA1557701747 | ARSB | c.617A= (p.Tyr206=) n.688A= | |
| 5 | g.78964490A>C | CA360193229 | ARSB | c.616T>G (p.Tyr206Asp) n.687T>G | |
| 5 | g.78964490A>G | CA360193230 | ARSB | c.616T>C (p.Tyr206His) n.687T>C | gnomAD v4 |
| 5 | g.78964490A>T | CA360193231 | ARSB | c.616T>A (p.Tyr206Asn) n.687T>A | |
| 5 | g.78964491T>A | CA3318221 | ARSB | c.615A>T (p.Gly205=) n.686A>T | dbSNP ExAC gnomAD v2 |
| 5 | g.78964491T>C | CA3318222 | ARSB | c.615A>G (p.Gly205=) n.686A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.78964491T>G | CA445101839 | ARSB | c.615A>C (p.Gly205=) n.686A>C | |
| 5 | g.78964491T= | CA1557701748 | ARSB | c.615A= (p.Gly205=) n.686A= | |
| 5 | g.78964492C>A | CA360193232 | ARSB | c.614G>T (p.Gly205Val) n.685G>T | COSMIC COSMIC |
| 5 | g.78964492C>G | CA360193233 | ARSB | c.614G>C (p.Gly205Ala) n.685G>C | |
| 5 | g.78964492C>T | CA360193234 | ARSB | c.614G>A (p.Gly205Glu) n.685G>A | COSMIC COSMIC |
| 5 | g.78964493C>A | CA360193235 | ARSB | c.613G>T (p.Gly205Ter) n.684G>T | |
| 5 | g.78964493C>G | CA360193236 | ARSB | c.613G>C (p.Gly205Arg) n.684G>C | |
| 5 | g.78964493C>T | CA360193237 | ARSB | c.613G>A (p.Gly205Arg) n.684G>A | gnomAD v4 |
| 5 | g.78964494T>A | CA445101849 | ARSB | c.612A>T (p.Thr204=) n.683A>T | |
| 5 | g.78964494T>C | CA445101853 | ARSB | c.612A>G (p.Thr204=) n.683A>G | gnomAD v4 COSMIC COSMIC |
| 5 | g.78964494T>G | CA445101854 | ARSB | c.612A>C (p.Thr204=) n.683A>C | |
| 5 | g.78964495G>A | CA360193240 | ARSB | c.611C>T (p.Thr204Ile) n.682C>T | |
| 5 | g.78964495G>C | CA360193239 | ARSB | c.611C>G (p.Thr204Arg) n.682C>G | |
| 5 | g.78964495G>T | CA360193238 | ARSB | c.611C>A (p.Thr204Lys) n.682C>A | |
| 5 | g.78964496T>A | CA360193241 | ARSB | c.610A>T (p.Thr204Ser) n.681A>T | |
| 5 | g.78964496T>C | CA360193242 | ARSB | c.610A>G (p.Thr204Ala) n.681A>G | gnomAD v4 |
| 5 | g.78964496T>G | CA360193243 | ARSB | c.610A>C (p.Thr204Pro) n.681A>C | |
| 5 | g.78964497T>A | CA445101861 | ARSB | c.609A>T (p.Ala203=) n.680A>T | |
| 5 | g.78964497T>C | CA445101864 | ARSB | c.609A>G (p.Ala203=) n.680A>G | |
| 5 | g.78964497T>G | CA445101867 | ARSB | c.609A>C (p.Ala203=) n.680A>C | |
| 5 | g.78964498G>A | CA360193244 | ARSB | c.608C>T (p.Ala203Val) n.679C>T | |
| 5 | g.78964498G>C | CA360193245 | ARSB | c.608C>G (p.Ala203Gly) n.679C>G | |
| 5 | g.78964498G>T | CA360193246 | ARSB | c.608C>A (p.Ala203Glu) n.679C>A | |
| 5 | g.78964499C>A | CA360193247 | ARSB | c.607G>T (p.Ala203Ser) n.678G>T | |
| 5 | g.78964499C>G | CA360193249 | ARSB | c.607G>C (p.Ala203Pro) n.678G>C | |
| 5 | g.78964499C>T | CA360193248 | ARSB | c.607G>A (p.Ala203Thr) n.678G>A | |
| 5 | g.78964500A>C | CA445101881 | ARSB | c.606T>G (p.Val202=) n.677T>G | |
| 5 | g.78964500A>G | CA445101882 | ARSB | c.606T>C (p.Val202=) n.677T>C | |
| 5 | g.78964500A>T | CA445101883 | ARSB | c.606T>A (p.Val202=) n.677T>A | |
| 5 | g.78964501A>C | CA360193250 | ARSB | c.605T>G (p.Val202Gly) n.676T>G | |
| 5 | g.78964501A>G | CA360193251 | ARSB | c.605T>C (p.Val202Ala) n.676T>C | |
| 5 | g.78964501A>T | CA360193252 | ARSB | c.605T>A (p.Val202Asp) n.676T>A | |
| 5 | g.78964502C>A | CA360193253 | ARSB | c.604G>T (p.Val202Phe) n.675G>T | |
| 5 | g.78964502C>G | CA360193254 | ARSB | c.604G>C (p.Val202Leu) n.675G>C | |
| 5 | g.78964502C>T | CA360193255 | ARSB | c.604G>A (p.Val202Ile) n.675G>A | |
| 5 | g.78964503T>A | CA360193256 | ARSB | c.603A>T (p.Glu201Asp) n.674A>T | |
| 5 | g.78964503T>C | CA445101893 | ARSB | c.603A>G (p.Glu201=) n.674A>G | |
| 5 | g.78964503T>G | CA360193257 | ARSB | c.603A>C (p.Glu201Asp) n.674A>C | |
| 5 | g.78964504T>A | CA360193258 | ARSB | c.602A>T (p.Glu201Val) n.673A>T | |
| 5 | g.78964504T>C | CA360193259 | ARSB | c.602A>G (p.Glu201Gly) n.673A>G | dbSNP |
| 5 | g.78964504T>G | CA360193260 | ARSB | c.602A>C (p.Glu201Ala) n.673A>C | |
| 5 | g.78964504T= | CA1557701749 | ARSB | c.602A= (p.Glu201=) n.673A= | |
| 5 | g.78964505C>A | CA360193261 | ARSB | c.601G>T (p.Glu201Ter) n.672G>T | |
| 5 | g.78964505C>G | CA360193263 | ARSB | c.601G>C (p.Glu201Gln) n.672G>C | |
| 5 | g.78964505C>T | CA360193262 | ARSB | c.601G>A (p.Glu201Lys) n.672G>A | |
| 5 | g.78964506T>A | CA360193264 | ARSB | c.600A>T (p.Glu200Asp) n.671A>T | |
| 5 | g.78964506T>C | CA445101913 | ARSB | c.600A>G (p.Glu200=) n.671A>G | |
| 5 | g.78964506T>G | CA360193265 | ARSB | c.600A>C (p.Glu200Asp) n.671A>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78964506T= | CA1557701750 | ARSB | c.600A= (p.Glu200=) n.671A= |