| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.176626390T>A | CA3572191 | SNCB | c.282+8A>T (n.282+8A>T) n.879+8A>T c.240+8A>T (n.240+8A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.176626390T= | CA1603231385 | SNCB | c.282+8A= (n.282+8A=) n.879+8A= c.240+8A= (n.240+8A=) | |
| 5 | g.176626391C= | CA1603231387 | SNCB | c.282+7G= (n.282+7G=) n.879+7G= c.240+7G= (n.240+7G=) | |
| 5 | g.176626391C>T | CA3572192 | SNCB | c.282+7G>A (n.282+7G>A) n.879+7G>A c.240+7G>A (n.240+7G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.176626392G>A | CA131869017 | SNCB | c.282+6C>T (n.282+6C>T) n.879+6C>T c.240+6C>T (n.240+6C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.176626392G= | CA1603231392 | SNCB | c.282+6C= (n.282+6C=) n.879+6C= c.240+6C= (n.240+6C=) | |
| 5 | g.176626392G>T | CA3572193 | SNCB | c.282+6C>A (n.282+6C>A) n.879+6C>A c.240+6C>A (n.240+6C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.176626393C= | CA1603231399 | SNCB | c.282+5G= (n.282+5G=) n.879+5G= c.240+5G= (n.240+5G=) | |
| 5 | g.176626393C>T | CA3572194 | SNCB | c.282+5G>A (n.282+5G>A) n.879+5G>A c.240+5G>A (n.240+5G>A) | dbSNP ExAC |
| 5 | g.176626394T>C | CA2676647712 | SNCB | c.282+4A>G (n.282+4A>G) n.879+4A>G c.240+4A>G (n.240+4A>G) | gnomAD v4 |
| 5 | g.176626395T>A | CA564458944 | SNCB | c.282+3A>T (n.282+3A>T) n.879+3A>T c.240+3A>T (n.240+3A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.176626395T= | CA1603231401 | SNCB | c.282+3A= (n.282+3A=) n.879+3A= c.240+3A= (n.240+3A=) | |
| 5 | g.176626396A>C | CA362261040 | SNCB | c.282+2T>G (n.282+2T>G) n.879+2T>G c.240+2T>G (n.240+2T>G) | |
| 5 | g.176626396A>G | CA362261044 | SNCB | c.282+2T>C (n.282+2T>C) n.879+2T>C c.240+2T>C (n.240+2T>C) | |
| 5 | g.176626396A>T | CA362261042 | SNCB | c.282+2T>A (n.282+2T>A) n.879+2T>A c.240+2T>A (n.240+2T>A) | |
| 5 | g.176626397C>A | CA362261045 | SNCB | c.282+1G>T (n.282+1G>T) n.879+1G>T c.240+1G>T (n.240+1G>T) | |
| 5 | g.176626397C= | CA1603204366 | SNCB | c.282+1G= (n.282+1G=) n.879+1G= c.240+1G= (n.240+1G=) | |
| 5 | g.176626397C>G | CA362261046 | SNCB | c.282+1G>C (n.282+1G>C) n.879+1G>C c.240+1G>C (n.240+1G>C) | |
| 5 | g.176626397C>T | CA3572195 | SNCB | c.282+1G>A (n.282+1G>A) n.879+1G>A c.240+1G>A (n.240+1G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.176626398C>A | CA362261048 | SNCB | c.282G>T (p.Lys94Asn) n.879G>T c.240G>T (p.Lys80Asn) | |
| 5 | g.176626398C= | CA1603204376 | SNCB | c.282G= (p.Lys94=) n.879G= c.240G= (p.Lys80=) | |
| 5 | g.176626398C>G | CA362261050 | SNCB | c.282G>C (p.Lys94Asn) n.879G>C c.240G>C (p.Lys80Asn) | |
| 5 | g.176626398C>T | CA3572196 | SNCB | c.282G>A (p.Lys94=) n.879G>A c.240G>A (p.Lys80=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.176626399T>A | CA362261052 | SNCB | c.281A>T (p.Lys94Met) n.878A>T c.239A>T (p.Lys80Met) | |
| 5 | g.176626399T>C | CA362261054 | SNCB | c.281A>G (p.Lys94Arg) n.878A>G c.239A>G (p.Lys80Arg) | |
| 5 | g.176626399T>G | CA362261055 | SNCB | c.281A>C (p.Lys94Thr) n.878A>C c.239A>C (p.Lys80Thr) | |
| 5 | g.176626400del | CA2578492183 | SNCB | c.281del (p.Lys94SerfsTer14) n.878del c.239del (p.Lys80SerfsTer14) c.281del (p.Lys94ArgfsTer?) | |
| 5 | g.176626400T>A | CA362261057 | SNCB | c.280A>T (p.Lys94Ter) n.877A>T c.238A>T (p.Lys80Ter) | |
| 5 | g.176626400T>C | CA362261059 | SNCB | c.280A>G (p.Lys94Glu) n.877A>G c.238A>G (p.Lys80Glu) | |
| 5 | g.176626400T>G | CA362261060 | SNCB | c.280A>C (p.Lys94Gln) n.877A>C c.238A>C (p.Lys80Gln) | |
| 5 | g.176626401C>A | CA447706432 | SNCB | c.279G>T (p.Leu93=) n.876G>T c.237G>T (p.Leu79=) | |
| 5 | g.176626401C= | CA1603204380 | SNCB | c.279G= (p.Leu93=) n.876G= c.237G= (p.Leu79=) | |
| 5 | g.176626401C>G | CA447706434 | SNCB | c.279G>C (p.Leu93=) n.876G>C c.237G>C (p.Leu79=) | gnomAD v4 |
| 5 | g.176626401C>T | CA447706436 | SNCB | c.279G>A (p.Leu93=) n.876G>A c.237G>A (p.Leu79=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.176626402A>C | CA362261066 | SNCB | c.278T>G (p.Leu93Arg) n.875T>G c.236T>G (p.Leu79Arg) | |
| 5 | g.176626402A>G | CA362261063 | SNCB | c.278T>C (p.Leu93Pro) n.875T>C c.236T>C (p.Leu79Pro) | |
| 5 | g.176626402A>T | CA362261065 | SNCB | c.278T>A (p.Leu93Gln) n.875T>A c.236T>A (p.Leu79Gln) | |
| 5 | g.176626403G>A | CA447706439 | SNCB | c.277C>T (p.Leu93=) n.874C>T c.235C>T (p.Leu79=) | gnomAD v4 |
| 5 | g.176626403G>C | CA362261068 | SNCB | c.277C>G (p.Leu93Val) n.874C>G c.235C>G (p.Leu79Val) | |
| 5 | g.176626403G>T | CA362261070 | SNCB | c.277C>A (p.Leu93Met) n.874C>A c.235C>A (p.Leu79Met) | gnomAD v4 |
| 5 | g.176626404A= | CA1603204384 | SNCB | c.276T= (p.Asp92=) n.873T= c.234T= (p.Asp78=) | |
| 5 | g.176626404A>C | CA362261071 | SNCB | c.276T>G (p.Asp92Glu) n.873T>G c.234T>G (p.Asp78Glu) | |
| 5 | g.176626404A>G | CA131869034 | SNCB | c.276T>C (p.Asp92=) n.873T>C c.234T>C (p.Asp78=) | dbSNP |
| 5 | g.176626404A>T | CA362261073 | SNCB | c.276T>A (p.Asp92Glu) n.873T>A c.234T>A (p.Asp78Glu) | |
| 5 | g.176626405T>A | CA362261075 | SNCB | c.275A>T (p.Asp92Val) n.872A>T c.233A>T (p.Asp78Val) | |
| 5 | g.176626405T>C | CA362261076 | SNCB | c.275A>G (p.Asp92Gly) n.872A>G c.233A>G (p.Asp78Gly) | |
| 5 | g.176626405T>G | CA362261078 | SNCB | c.275A>C (p.Asp92Ala) n.872A>C c.233A>C (p.Asp78Ala) | |
| 5 | g.176626406C>A | CA362261079 | SNCB | c.274G>T (p.Asp92Tyr) n.871G>T c.232G>T (p.Asp78Tyr) | |
| 5 | g.176626406C>G | CA362261081 | SNCB | c.274G>C (p.Asp92His) n.871G>C c.232G>C (p.Asp78His) | |
| 5 | g.176626406C>T | CA362261083 | SNCB | c.274G>A (p.Asp92Asn) n.871G>A c.232G>A (p.Asp78Asn) | |
| 5 | g.176626407A>C | CA447706442 | SNCB | c.273T>G (p.Thr91=) n.870T>G c.231T>G (p.Thr77=) | |
| 5 | g.176626407A>G | CA447706443 | SNCB | c.273T>C (p.Thr91=) n.870T>C c.231T>C (p.Thr77=) | |
| 5 | g.176626407A>T | CA447706447 | SNCB | c.273T>A (p.Thr91=) n.870T>A c.231T>A (p.Thr77=) | |
| 5 | g.176626408G>A | CA362261088 | SNCB | c.272C>T (p.Thr91Ile) n.869C>T c.230C>T (p.Thr77Ile) | |
| 5 | g.176626408G>C | CA362261086 | SNCB | c.272C>G (p.Thr91Ser) n.869C>G c.230C>G (p.Thr77Ser) | |
| 5 | g.176626408G>T | CA362261085 | SNCB | c.272C>A (p.Thr91Asn) n.869C>A c.230C>A (p.Thr77Asn) | gnomAD v4 |
| 5 | g.176626409T>A | CA362261089 | SNCB | c.271A>T (p.Thr91Ser) n.868A>T c.229A>T (p.Thr77Ser) | |
| 5 | g.176626409T>C | CA362261090 | SNCB | c.271A>G (p.Thr91Ala) n.868A>G c.229A>G (p.Thr77Ala) | |
| 5 | g.176626409T>G | CA362261092 | SNCB | c.271A>C (p.Thr91Pro) n.868A>C c.229A>C (p.Thr77Pro) | |
| 5 | g.176626409T= | CA1603204389 | SNCB | c.271A= (p.Thr91=) n.868A= c.229A= (p.Thr77=) | |
| 5 | g.176626410A>C | CA447706451 | SNCB | c.270T>G (p.Pro90=) n.867T>G c.228T>G (p.Pro76=) | |
| 5 | g.176626410A>G | CA447706452 | SNCB | c.270T>C (p.Pro90=) n.867T>C c.228T>C (p.Pro76=) | |
| 5 | g.176626410A>T | CA447706453 | SNCB | c.270T>A (p.Pro90=) n.867T>A c.228T>A (p.Pro76=) | |
| 5 | g.176626410dup | CA564458954 | SNCB | c.270dup (p.Thr91TyrfsTer2) n.867dup c.228dup (p.Thr77TyrfsTer2) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.176626411G>A | CA362261093 | SNCB | c.269C>T (p.Pro90Leu) n.866C>T c.227C>T (p.Pro76Leu) | ClinVar |
| 5 | g.176626411G>C | CA362261095 | SNCB | c.269C>G (p.Pro90Arg) n.866C>G c.227C>G (p.Pro76Arg) | |
| 5 | g.176626411G>T | CA362261097 | SNCB | c.269C>A (p.Pro90His) n.866C>A c.227C>A (p.Pro76His) | |
| 5 | g.176626412G>A | CA362261102 | SNCB | c.268C>T (p.Pro90Ser) n.865C>T c.226C>T (p.Pro76Ser) | |
| 5 | g.176626412G>C | CA362261098 | SNCB | c.268C>G (p.Pro90Ala) n.865C>G c.226C>G (p.Pro76Ala) | |
| 5 | g.176626412G>T | CA362261100 | SNCB | c.268C>A (p.Pro90Thr) n.865C>A c.226C>A (p.Pro76Thr) | |
| 5 | g.176626413G>A | CA447706457 | SNCB | c.267C>T (p.Phe89=) n.864C>T c.225C>T (p.Phe75=) | |
| 5 | g.176626413G>C | CA362261103 | SNCB | c.267C>G (p.Phe89Leu) n.864C>G c.225C>G (p.Phe75Leu) | |
| 5 | g.176626413G>T | CA362261105 | SNCB | c.267C>A (p.Phe89Leu) n.864C>A c.225C>A (p.Phe75Leu) | |
| 5 | g.176626414A>C | CA362261107 | SNCB | c.266T>G (p.Phe89Cys) n.863T>G c.224T>G (p.Phe75Cys) | |
| 5 | g.176626414A>G | CA362261108 | SNCB | c.266T>C (p.Phe89Ser) n.863T>C c.224T>C (p.Phe75Ser) | gnomAD v4 |
| 5 | g.176626414A>T | CA362261110 | SNCB | c.266T>A (p.Phe89Tyr) n.863T>A c.224T>A (p.Phe75Tyr) | |
| 5 | g.176626415A>C | CA362261112 | SNCB | c.265T>G (p.Phe89Val) n.862T>G c.223T>G (p.Phe75Val) | |
| 5 | g.176626415A>G | CA362261114 | SNCB | c.265T>C (p.Phe89Leu) n.862T>C c.223T>C (p.Phe75Leu) | gnomAD v4 |
| 5 | g.176626415A>T | CA362261113 | SNCB | c.265T>A (p.Phe89Ile) n.862T>A c.223T>A (p.Phe75Ile) | |
| 5 | g.176626416T>A | CA3572197 | SNCB | c.264A>T (p.Glu88Asp) n.861A>T c.222A>T (p.Glu74Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.176626416T>C | CA447706459 | SNCB | c.264A>G (p.Glu88=) n.861A>G c.222A>G (p.Glu74=) | |
| 5 | g.176626416T>G | CA362261116 | SNCB | c.264A>C (p.Glu88Asp) n.861A>C c.222A>C (p.Glu74Asp) | |
| 5 | g.176626416T= | CA1603204393 | SNCB | c.264A= (p.Glu88=) n.861A= c.222A= (p.Glu74=) | |
| 5 | g.176626417T>A | CA362261117 | SNCB | c.263A>T (p.Glu88Val) n.860A>T c.221A>T (p.Glu74Val) | |
| 5 | g.176626417T>C | CA362261119 | SNCB | c.263A>G (p.Glu88Gly) n.860A>G c.221A>G (p.Glu74Gly) | |
| 5 | g.176626417T>G | CA362261120 | SNCB | c.263A>C (p.Glu88Ala) n.860A>C c.221A>C (p.Glu74Ala) | |
| 5 | g.176626418C>A | CA362261122 | SNCB | c.262G>T (p.Glu88Ter) n.859G>T c.220G>T (p.Glu74Ter) | |
| 5 | g.176626418C>G | CA362261123 | SNCB | c.262G>C (p.Glu88Gln) n.859G>C c.220G>C (p.Glu74Gln) | |
| 5 | g.176626418C>T | CA362261125 | SNCB | c.262G>A (p.Glu88Lys) n.859G>A c.220G>A (p.Glu74Lys) | |
| 5 | g.176626419C>A | CA362261127 | SNCB | c.261G>T (p.Glu87Asp) n.858G>T c.219G>T (p.Glu73Asp) | |
| 5 | g.176626419C>G | CA362261129 | SNCB | c.261G>C (p.Glu87Asp) n.858G>C c.219G>C (p.Glu73Asp) | |
| 5 | g.176626419C>T | CA447706460 | SNCB | c.261G>A (p.Glu87=) n.858G>A c.219G>A (p.Glu73=) | dbSNP gnomAD v4 |
| 5 | g.176626420T>A | CA362261134 | SNCB | c.260A>T (p.Glu87Val) n.857A>T c.218A>T (p.Glu73Val) | |
| 5 | g.176626420T>C | CA362261132 | SNCB | c.260A>G (p.Glu87Gly) n.857A>G c.218A>G (p.Glu73Gly) | gnomAD v4 |
| 5 | g.176626420T>G | CA362261130 | SNCB | c.260A>C (p.Glu87Ala) n.857A>C c.218A>C (p.Glu73Ala) | |
| 5 | g.176626421C>A | CA362261136 | SNCB | c.259G>T (p.Glu87Ter) n.856G>T c.217G>T (p.Glu73Ter) | |
| 5 | g.176626421C= | CA1603204399 | SNCB | c.259G= (p.Glu87=) n.856G= c.217G= (p.Glu73=) | |
| 5 | g.176626421C>G | CA362261139 | SNCB | c.259G>C (p.Glu87Gln) n.856G>C c.217G>C (p.Glu73Gln) | |
| 5 | g.176626421C>T | CA362261137 | SNCB | c.259G>A (p.Glu87Lys) n.856G>A c.217G>A (p.Glu73Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.176626422C>A | CA362261140 | SNCB | c.258G>T (p.Arg86Ser) n.855G>T c.216G>T (p.Arg72Ser) | |
| 5 | g.176626422C>G | CA362261142 | SNCB | c.258G>C (p.Arg86Ser) n.855G>C c.216G>C (p.Arg72Ser) | |
| 5 | g.176626422C>T | CA447706465 | SNCB | c.258G>A (p.Arg86=) n.855G>A c.216G>A (p.Arg72=) | |
| 5 | g.176626423C>A | CA362261143 | SNCB | c.257G>T (p.Arg86Met) n.854G>T c.215G>T (p.Arg72Met) | |
| 5 | g.176626423C>G | CA362261145 | SNCB | c.257G>C (p.Arg86Thr) n.854G>C c.215G>C (p.Arg72Thr) | |
| 5 | g.176626423C>T | CA362261146 | SNCB | c.257G>A (p.Arg86Lys) n.854G>A c.215G>A (p.Arg72Lys) | |
| 5 | g.176626424T>A | CA362261148 | SNCB | c.256A>T (p.Arg86Trp) n.853A>T c.214A>T (p.Arg72Trp) | |
| 5 | g.176626424T>C | CA362261149 | SNCB | c.256A>G (p.Arg86Gly) n.853A>G c.214A>G (p.Arg72Gly) | |
| 5 | g.176626424T>G | CA447706467 | SNCB | c.256A>C (p.Arg86=) n.853A>C c.214A>C (p.Arg72=) | |
| 5 | g.176626425C>A | CA362261150 | SNCB | c.255G>T (p.Lys85Asn) n.852G>T c.213G>T (p.Lys71Asn) | |
| 5 | g.176626425C>G | CA362261151 | SNCB | c.255G>C (p.Lys85Asn) n.852G>C c.213G>C (p.Lys71Asn) | |
| 5 | g.176626425C>T | CA447706468 | SNCB | c.255G>A (p.Lys85=) n.852G>A c.213G>A (p.Lys71=) | |
| 5 | g.176626426T>A | CA362261152 | SNCB | c.254A>T (p.Lys85Met) n.851A>T c.212A>T (p.Lys71Met) | |
| 5 | g.176626426T>C | CA362261154 | SNCB | c.254A>G (p.Lys85Arg) n.851A>G c.212A>G (p.Lys71Arg) | |
| 5 | g.176626426T>G | CA362261155 | SNCB | c.254A>C (p.Lys85Thr) n.851A>C c.212A>C (p.Lys71Thr) | |
| 5 | g.176626427T>A | CA362261160 | SNCB | c.253A>T (p.Lys85Ter) n.850A>T c.211A>T (p.Lys71Ter) | |
| 5 | g.176626427T>C | CA362261157 | SNCB | c.253A>G (p.Lys85Glu) n.850A>G c.211A>G (p.Lys71Glu) | |
| 5 | g.176626427T>G | CA362261159 | SNCB | c.253A>C (p.Lys85Gln) n.850A>C c.211A>C (p.Lys71Gln) | |
| 5 | g.176626428C>A | CA447706471 | SNCB | c.252G>T (p.Val84=) n.849G>T c.210G>T (p.Val70=) | |
| 5 | g.176626428C>G | CA447706472 | SNCB | c.252G>C (p.Val84=) n.849G>C c.210G>C (p.Val70=) | |
| 5 | g.176626428C>T | CA447706474 | SNCB | c.252G>A (p.Val84=) n.849G>A c.210G>A (p.Val70=) | gnomAD v4 |
| 5 | g.176626429A>C | CA362261162 | SNCB | c.251T>G (p.Val84Gly) n.848T>G c.209T>G (p.Val70Gly) | |
| 5 | g.176626429A>G | CA362261164 | SNCB | c.251T>C (p.Val84Ala) n.848T>C c.209T>C (p.Val70Ala) | |
| 5 | g.176626429A>T | CA362261165 | SNCB | c.251T>A (p.Val84Glu) n.848T>A c.209T>A (p.Val70Glu) | |
| 5 | g.176626430C>A | CA362261167 | SNCB | c.250G>T (p.Val84Leu) n.847G>T c.208G>T (p.Val70Leu) | |
| 5 | g.176626430C>G | CA362261169 | SNCB | c.250G>C (p.Val84Leu) n.847G>C c.208G>C (p.Val70Leu) | gnomAD v4 |
| 5 | g.176626430C>T | CA362261170 | SNCB | c.250G>A (p.Val84Met) n.847G>A c.208G>A (p.Val70Met) | |
| 5 | g.176626431C>A | CA447706476 | SNCB | c.249G>T (p.Leu83=) n.846G>T c.207G>T (p.Leu69=) | |
| 5 | g.176626431C>G | CA447706477 | SNCB | c.249G>C (p.Leu83=) n.846G>C c.207G>C (p.Leu69=) | |
| 5 | g.176626431C>T | CA447706478 | SNCB | c.249G>A (p.Leu83=) n.846G>A c.207G>A (p.Leu69=) | gnomAD v4 |
| 5 | g.176626432A>C | CA362261171 | SNCB | c.248T>G (p.Leu83Arg) n.845T>G c.206T>G (p.Leu69Arg) | |
| 5 | g.176626432A>G | CA362261173 | SNCB | c.248T>C (p.Leu83Pro) n.845T>C c.206T>C (p.Leu69Pro) | |
| 5 | g.176626432A>T | CA362261175 | SNCB | c.248T>A (p.Leu83Gln) n.845T>A c.206T>A (p.Leu69Gln) | |
| 5 | g.176626433G>A | CA447706479 | SNCB | c.247C>T (p.Leu83=) n.844C>T c.205C>T (p.Leu69=) | gnomAD v4 |
| 5 | g.176626433G>C | CA362261177 | SNCB | c.247C>G (p.Leu83Val) n.844C>G c.205C>G (p.Leu69Val) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.176626433G= | CA1603204402 | SNCB | c.247C= (p.Leu83=) n.844C= c.205C= (p.Leu69=) | |
| 5 | g.176626433G>T | CA362261178 | SNCB | c.247C>A (p.Leu83Met) n.844C>A c.205C>A (p.Leu69Met) | gnomAD v4 |
| 5 | g.176626434T>A | CA447706481 | SNCB | c.246A>T (p.Gly82=) n.843A>T c.204A>T (p.Gly68=) | |
| 5 | g.176626434T>C | CA447706482 | SNCB | c.246A>G (p.Gly82=) n.843A>G c.204A>G (p.Gly68=) | |
| 5 | g.176626434T>G | CA447706484 | SNCB | c.246A>C (p.Gly82=) n.843A>C c.204A>C (p.Gly68=) | |
| 5 | g.176626435C>A | CA362261183 | SNCB | c.245G>T (p.Gly82Val) n.842G>T c.203G>T (p.Gly68Val) | dbSNP |
| 5 | g.176626435C= | CA1603204404 | SNCB | c.245G= (p.Gly82=) n.842G= c.203G= (p.Gly68=) | |
| 5 | g.176626435C>G | CA362261181 | SNCB | c.245G>C (p.Gly82Ala) n.842G>C c.203G>C (p.Gly68Ala) | |
| 5 | g.176626435C>T | CA362261179 | SNCB | c.245G>A (p.Gly82Glu) n.842G>A c.203G>A (p.Gly68Glu) | gnomAD v4 |
| 5 | g.176626436C>A | CA362261184 | SNCB | c.244G>T (p.Gly82Ter) n.841G>T c.202G>T (p.Gly68Ter) | |
| 5 | g.176626436C= | CA1603204408 | SNCB | c.244G= (p.Gly82=) n.841G= c.202G= (p.Gly68=) | |
| 5 | g.176626436C>G | CA362261186 | SNCB | c.244G>C (p.Gly82Arg) n.841G>C c.202G>C (p.Gly68Arg) | |
| 5 | g.176626436C>T | CA131869037 | SNCB | c.244G>A (p.Gly82Arg) n.841G>A c.202G>A (p.Gly68Arg) | dbSNP COSMIC |
| 5 | g.176626437T>A | CA447706485 | SNCB | c.243A>T (p.Thr81=) n.840A>T c.201A>T (p.Thr67=) | |
| 5 | g.176626437T>C | CA447706486 | SNCB | c.243A>G (p.Thr81=) n.840A>G c.201A>G (p.Thr67=) | |
| 5 | g.176626437T>G | CA447706488 | SNCB | c.243A>C (p.Thr81=) n.840A>C c.201A>C (p.Thr67=) | |
| 5 | g.176626438G>A | CA362261189 | SNCB | c.242C>T (p.Thr81Ile) n.839C>T c.200C>T (p.Thr67Ile) | gnomAD v4 |
| 5 | g.176626438G>C | CA362261190 | SNCB | c.242C>G (p.Thr81Arg) n.839C>G c.200C>G (p.Thr67Arg) | gnomAD v4 |
| 5 | g.176626438G>T | CA362261192 | SNCB | c.242C>A (p.Thr81Lys) n.839C>A c.200C>A (p.Thr67Lys) | |
| 5 | g.176626439T>A | CA362261193 | SNCB | c.241A>T (p.Thr81Ser) n.838A>T c.199A>T (p.Thr67Ser) | |
| 5 | g.176626439T>C | CA362261195 | SNCB | c.241A>G (p.Thr81Ala) n.838A>G c.199A>G (p.Thr67Ala) | |
| 5 | g.176626439T>G | CA362261197 | SNCB | c.241A>C (p.Thr81Pro) n.838A>C c.199A>C (p.Thr67Pro) | gnomAD v4 |
| 5 | g.176626440G>A | CA131869040 | SNCB | c.240C>T (p.Ala80=) n.837C>T c.198C>T (p.Ala66=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.176626440G>C | CA447706490 | SNCB | c.240C>G (p.Ala80=) n.837C>G c.198C>G (p.Ala66=) | |
| 5 | g.176626440G= | CA1603204411 | SNCB | c.240C= (p.Ala80=) n.837C= c.198C= (p.Ala66=) | |
| 5 | g.176626440G>T | CA447706491 | SNCB | c.240C>A (p.Ala80=) n.837C>A c.198C>A (p.Ala66=) | |
| 5 | g.176626441G>A | CA362261199 | SNCB | c.239C>T (p.Ala80Val) n.836C>T c.197C>T (p.Ala66Val) | |
| 5 | g.176626441G>C | CA362261201 | SNCB | c.239C>G (p.Ala80Gly) n.836C>G c.197C>G (p.Ala66Gly) | |
| 5 | g.176626441G>T | CA362261202 | SNCB | c.239C>A (p.Ala80Asp) n.836C>A c.197C>A (p.Ala66Asp) | |
| 5 | g.176626442C>A | CA362261206 | SNCB | c.238G>T (p.Ala80Ser) n.835G>T c.196G>T (p.Ala66Ser) | |
| 5 | g.176626442C= | CA1603204417 | SNCB | c.238G= (p.Ala80=) n.835G= c.196G= (p.Ala66=) | |
| 5 | g.176626442C>G | CA362261203 | SNCB | c.238G>C (p.Ala80Pro) n.835G>C c.196G>C (p.Ala66Pro) | |
| 5 | g.176626442C>T | CA362261204 | SNCB | c.238G>A (p.Ala80Thr) n.835G>A c.196G>A (p.Ala66Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.176626443T>A | CA447706493 | SNCB | c.237A>T (p.Ala79=) n.834A>T c.195A>T (p.Ala65=) | |
| 5 | g.176626443T>C | CA447706495 | SNCB | c.237A>G (p.Ala79=) n.834A>G c.195A>G (p.Ala65=) | |
| 5 | g.176626443T>G | CA447706496 | SNCB | c.237A>C (p.Ala79=) n.834A>C c.195A>C (p.Ala65=) | |
| 5 | g.176626444G>A | CA362261208 | SNCB | c.236C>T (p.Ala79Val) n.833C>T c.194C>T (p.Ala65Val) | gnomAD v4 |
| 5 | g.176626444G>C | CA362261209 | SNCB | c.236C>G (p.Ala79Gly) n.833C>G c.194C>G (p.Ala65Gly) | |
| 5 | g.176626444G>T | CA362261211 | SNCB | c.236C>A (p.Ala79Glu) n.833C>A c.194C>A (p.Ala65Glu) | |
| 5 | g.176626445C>A | CA362261212 | SNCB | c.235G>T (p.Ala79Ser) n.832G>T c.193G>T (p.Ala65Ser) | |
| 5 | g.176626445C>G | CA362261214 | SNCB | c.235G>C (p.Ala79Pro) n.832G>C c.193G>C (p.Ala65Pro) | |
| 5 | g.176626445C>T | CA362261215 | SNCB | c.235G>A (p.Ala79Thr) n.832G>A c.193G>A (p.Ala65Thr) | |
| 5 | g.176626446T>A | CA447706500 | SNCB | c.234A>T (p.Ala78=) n.831A>T c.192A>T (p.Ala64=) | |
| 5 | g.176626446T>C | CA447706502 | SNCB | c.234A>G (p.Ala78=) n.831A>G c.192A>G (p.Ala64=) | |
| 5 | g.176626446T>G | CA447706501 | SNCB | c.234A>C (p.Ala78=) n.831A>C c.192A>C (p.Ala64=) | |
| 5 | g.176626447G>A | CA362261217 | SNCB | c.233C>T (p.Ala78Val) n.830C>T c.191C>T (p.Ala64Val) | |
| 5 | g.176626447G>C | CA362261218 | SNCB | c.233C>G (p.Ala78Gly) n.830C>G c.191C>G (p.Ala64Gly) | |
| 5 | g.176626447G>T | CA362261220 | SNCB | c.233C>A (p.Ala78Glu) n.830C>A c.191C>A (p.Ala64Glu) | |
| 5 | g.176626448C>A | CA362261222 | SNCB | c.232G>T (p.Ala78Ser) n.829G>T c.190G>T (p.Ala64Ser) | |
| 5 | g.176626448C= | CA1603204419 | SNCB | c.232G= (p.Ala78=) n.829G= c.190G= (p.Ala64=) | |
| 5 | g.176626448C>G | CA362261223 | SNCB | c.232G>C (p.Ala78Pro) n.829G>C c.190G>C (p.Ala64Pro) | |
| 5 | g.176626448C>T | CA3572198 | SNCB | c.232G>A (p.Ala78Thr) n.829G>A c.190G>A (p.Ala64Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.176626449G>A | CA3572199 | SNCB | c.231C>T (p.Ile77=) n.828C>T c.189C>T (p.Ile63=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.176626449G>C | CA362261227 | SNCB | c.231C>G (p.Ile77Met) n.828C>G c.189C>G (p.Ile63Met) | ClinVar gnomAD v4 |
| 5 | g.176626449G= | CA1603204424 | SNCB | c.231C= (p.Ile77=) n.828C= c.189C= (p.Ile63=) | |
| 5 | g.176626449G>T | CA447706505 | SNCB | c.231C>A (p.Ile77=) n.828C>A c.189C>A (p.Ile63=) | |
| 5 | g.176626450A>C | CA362261228 | SNCB | c.230T>G (p.Ile77Ser) n.827T>G c.188T>G (p.Ile63Ser) | |
| 5 | g.176626450A>G | CA362261230 | SNCB | c.230T>C (p.Ile77Thr) n.827T>C c.188T>C (p.Ile63Thr) | |
| 5 | g.176626450A>T | CA362261229 | SNCB | c.230T>A (p.Ile77Asn) n.827T>A c.188T>A (p.Ile63Asn) | |
| 5 | g.176626451T>A | CA362261232 | SNCB | c.229A>T (p.Ile77Phe) n.826A>T c.187A>T (p.Ile63Phe) | |
| 5 | g.176626451T>C | CA3572200 | SNCB | c.229A>G (p.Ile77Val) n.826A>G c.187A>G (p.Ile63Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.176626451T>G | CA362261234 | SNCB | c.229A>C (p.Ile77Leu) n.826A>C c.187A>C (p.Ile63Leu) | |
| 5 | g.176626451T= | CA1603204429 | SNCB | c.229A= (p.Ile77=) n.826A= c.187A= (p.Ile63=) | |
| 5 | g.176626452G>A | CA447706510 | SNCB | c.228C>T (p.Asn76=) n.825C>T c.186C>T (p.Asn62=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.176626452G>C | CA362261236 | SNCB | c.228C>G (p.Asn76Lys) n.825C>G c.186C>G (p.Asn62Lys) | |
| 5 | g.176626452G= | CA1603204432 | SNCB | c.228C= (p.Asn76=) n.825C= c.186C= (p.Asn62=) | |
| 5 | g.176626452G>T | CA362261238 | SNCB | c.228C>A (p.Asn76Lys) n.825C>A c.186C>A (p.Asn62Lys) | |
| 5 | g.176626453T>A | CA362261240 | SNCB | c.227A>T (p.Asn76Ile) n.824A>T c.185A>T (p.Asn62Ile) | |
| 5 | g.176626453T>C | CA362261242 | SNCB | c.227A>G (p.Asn76Ser) n.824A>G c.185A>G (p.Asn62Ser) | |
| 5 | g.176626453T>G | CA362261243 | SNCB | c.227A>C (p.Asn76Thr) n.824A>C c.185A>C (p.Asn62Thr) | |
| 5 | g.176626454T>A | CA362261245 | SNCB | c.226A>T (p.Asn76Tyr) n.823A>T c.184A>T (p.Asn62Tyr) | |
| 5 | g.176626454T>C | CA362261247 | SNCB | c.226A>G (p.Asn76Asp) n.823A>G c.184A>G (p.Asn62Asp) | |
| 5 | g.176626454T>G | CA362261249 | SNCB | c.226A>C (p.Asn76His) n.823A>C c.184A>C (p.Asn62His) | |
| 5 | g.176626455C>A | CA447706512 | SNCB | c.225G>T (p.Gly75=) n.822G>T c.183G>T (p.Gly61=) | |
| 5 | g.176626455C= | CA1603204436 | SNCB | c.225G= (p.Gly75=) n.822G= c.183G= (p.Gly61=) | |
| 5 | g.176626455C>G | CA447706514 | SNCB | c.225G>C (p.Gly75=) n.822G>C c.183G>C (p.Gly61=) | |
| 5 | g.176626455C>T | CA3572201 | SNCB | c.225G>A (p.Gly75=) n.822G>A c.183G>A (p.Gly61=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.176626456C>A | CA362261252 | SNCB | c.224G>T (p.Gly75Val) n.821G>T c.182G>T (p.Gly61Val) | |
| 5 | g.176626456C>G | CA362261253 | SNCB | c.224G>C (p.Gly75Ala) n.821G>C c.182G>C (p.Gly61Ala) | |
| 5 | g.176626456C>T | CA362261255 | SNCB | c.224G>A (p.Gly75Glu) n.821G>A c.182G>A (p.Gly61Glu) | |
| 5 | g.176626457C>A | CA362261257 | SNCB | c.223G>T (p.Gly75Trp) n.820G>T c.181G>T (p.Gly61Trp) | |
| 5 | g.176626457C>G | CA362261261 | SNCB | c.223G>C (p.Gly75Arg) n.820G>C c.181G>C (p.Gly61Arg) | |
| 5 | g.176626457C>T | CA362261259 | SNCB | c.223G>A (p.Gly75Arg) n.820G>A c.181G>A (p.Gly61Arg) | |
| 5 | g.176626457_176626458del | CA2676647806 | SNCB | c.222_223del (p.Gly75GlufsTer17) n.819_820del c.180_181del (p.Gly61GlufsTer17) | gnomAD v4 |
| 5 | g.176626458T>A | CA447706516 | SNCB | c.222A>T (p.Ala74=) n.819A>T c.180A>T (p.Ala60=) | |
| 5 | g.176626458T>C | CA447706520 | SNCB | c.222A>G (p.Ala74=) n.819A>G c.180A>G (p.Ala60=) | |
| 5 | g.176626458T>G | CA447706519 | SNCB | c.222A>C (p.Ala74=) n.819A>C c.180A>C (p.Ala60=) | |
| 5 | g.176626459G>A | CA362261263 | SNCB | c.221C>T (p.Ala74Val) n.818C>T c.179C>T (p.Ala60Val) | |
| 5 | g.176626459G>C | CA362261264 | SNCB | c.221C>G (p.Ala74Gly) n.818C>G c.179C>G (p.Ala60Gly) | gnomAD v4 |
| 5 | g.176626459G>T | CA362261266 | SNCB | c.221C>A (p.Ala74Glu) n.818C>A c.179C>A (p.Ala60Glu) | COSMIC |
| 5 | g.176626460C>A | CA362261270 | SNCB | c.220G>T (p.Ala74Ser) n.817G>T c.178G>T (p.Ala60Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.176626460C= | CA1603204440 | SNCB | c.220G= (p.Ala74=) n.817G= c.178G= (p.Ala60=) | |
| 5 | g.176626460C>G | CA362261272 | SNCB | c.220G>C (p.Ala74Pro) n.817G>C c.178G>C (p.Ala60Pro) | |
| 5 | g.176626460C>T | CA362261273 | SNCB | c.220G>A (p.Ala74Thr) n.817G>A c.178G>A (p.Ala60Thr) | |
| 5 | g.176626461C>A | CA447706524 | SNCB | c.219G>T (p.Gly73=) n.816G>T c.177G>T (p.Gly59=) | |
| 5 | g.176626461C>G | CA447706523 | SNCB | c.219G>C (p.Gly73=) n.816G>C c.177G>C (p.Gly59=) | |
| 5 | g.176626461C>T | CA447706522 | SNCB | c.219G>A (p.Gly73=) n.816G>A c.177G>A (p.Gly59=) | |
| 5 | g.176626462C>A | CA362261274 | SNCB | c.218G>T (p.Gly73Val) n.815G>T c.176G>T (p.Gly59Val) | |
| 5 | g.176626462C>G | CA362261276 | SNCB | c.218G>C (p.Gly73Ala) n.815G>C c.176G>C (p.Gly59Ala) | |
| 5 | g.176626462C>T | CA362261278 | SNCB | c.218G>A (p.Gly73Glu) n.815G>A c.176G>A (p.Gly59Glu) | |
| 5 | g.176626463C>A | CA362261281 | SNCB | c.217G>T (p.Gly73Trp) n.814G>T c.175G>T (p.Gly59Trp) | |
| 5 | g.176626463C>G | CA362261283 | SNCB | c.217G>C (p.Gly73Arg) n.814G>C c.175G>C (p.Gly59Arg) | |
| 5 | g.176626463C>T | CA362261280 | SNCB | c.217G>A (p.Gly73Arg) n.814G>A c.175G>A (p.Gly59Arg) | |
| 5 | g.176626464A= | CA1603204443 | SNCB | c.216T= (p.Ser72=) n.813T= c.174T= (p.Ser58=) | |
| 5 | g.176626464A>C | CA447706526 | SNCB | c.216T>G (p.Ser72=) n.813T>G c.174T>G (p.Ser58=) | dbSNP |
| 5 | g.176626464A>G | CA447706528 | SNCB | c.216T>C (p.Ser72=) n.813T>C c.174T>C (p.Ser58=) | |
| 5 | g.176626464A>T | CA447706527 | SNCB | c.216T>A (p.Ser72=) n.813T>A c.174T>A (p.Ser58=) | |
| 5 | g.176626465G>A | CA362261285 | SNCB | c.215C>T (p.Ser72Phe) n.812C>T c.173C>T (p.Ser58Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.176626465G>C | CA362261286 | SNCB | c.215C>G (p.Ser72Cys) n.812C>G c.173C>G (p.Ser58Cys) | |
| 5 | g.176626465G= | CA1603204448 | SNCB | c.215C= (p.Ser72=) n.812C= c.173C= (p.Ser58=) | |
| 5 | g.176626465G>T | CA362261288 | SNCB | c.215C>A (p.Ser72Tyr) n.812C>A c.173C>A (p.Ser58Tyr) | |
| 5 | g.176626466A>C | CA362261290 | SNCB | c.214T>G (p.Ser72Ala) n.811T>G c.172T>G (p.Ser58Ala) | gnomAD v4 |
| 5 | g.176626466A>G | CA362261291 | SNCB | c.214T>C (p.Ser72Pro) n.811T>C c.172T>C (p.Ser58Pro) | |
| 5 | g.176626466A>T | CA362261293 | SNCB | c.214T>A (p.Ser72Thr) n.811T>A c.172T>A (p.Ser58Thr) | |
| 5 | g.176626467G>A | CA447706530 | SNCB | c.213C>T (p.Phe71=) n.810C>T c.171C>T (p.Phe57=) | |
| 5 | g.176626467G>C | CA362261295 | SNCB | c.213C>G (p.Phe71Leu) n.810C>G c.171C>G (p.Phe57Leu) | |
| 5 | g.176626467G>T | CA362261297 | SNCB | c.213C>A (p.Phe71Leu) n.810C>A c.171C>A (p.Phe57Leu) | |
| 5 | g.176626468A>C | CA362261299 | SNCB | c.212T>G (p.Phe71Cys) n.809T>G c.170T>G (p.Phe57Cys) | |
| 5 | g.176626468A>G | CA362261301 | SNCB | c.212T>C (p.Phe71Ser) n.809T>C c.170T>C (p.Phe57Ser) | |
| 5 | g.176626468A>T | CA362261303 | SNCB | c.212T>A (p.Phe71Tyr) n.809T>A c.170T>A (p.Phe57Tyr) | |
| 5 | g.176626469A>C | CA362261306 | SNCB | c.211T>G (p.Phe71Val) n.808T>G c.169T>G (p.Phe57Val) | |
| 5 | g.176626469A>G | CA362261308 | SNCB | c.211T>C (p.Phe71Leu) n.808T>C c.169T>C (p.Phe57Leu) | |
| 5 | g.176626469A>T | CA362261304 | SNCB | c.211T>A (p.Phe71Ile) n.808T>A c.169T>A (p.Phe57Ile) | |
| 5 | g.176626470C>A | CA447706538 | SNCB | c.210G>T (p.Val70=) n.807G>T c.168G>T (p.Val56=) | |
| 5 | g.176626470C>G | CA447706541 | SNCB | c.210G>C (p.Val70=) n.807G>C c.168G>C (p.Val56=) | |
| 5 | g.176626470C>T | CA447706543 | SNCB | c.210G>A (p.Val70=) n.807G>A c.168G>A (p.Val56=) | |
| 5 | g.176626471A>C | CA362261309 | SNCB | c.209T>G (p.Val70Gly) n.806T>G c.167T>G (p.Val56Gly) | |
| 5 | g.176626471A>G | CA362261310 | SNCB | c.209T>C (p.Val70Ala) n.806T>C c.167T>C (p.Val56Ala) | |
| 5 | g.176626471A>T | CA362261311 | SNCB | c.209T>A (p.Val70Glu) n.806T>A c.167T>A (p.Val56Glu) | |
| 5 | g.176626472C>A | CA362261313 | SNCB | c.208G>T (p.Val70Leu) n.805G>T c.166G>T (p.Val56Leu) | |
| 5 | g.176626472C= | CA1603204475 | SNCB | c.208G= (p.Val70=) n.805G= c.166G= (p.Val56=) | |
| 5 | g.176626472C>G | CA131869045 | SNCB | c.208G>C (p.Val70Leu) n.805G>C c.166G>C (p.Val56Leu) | dbSNP |
| 5 | g.176626472C>T | CA118591 | SNCB | c.208G>A (p.Val70Met) n.805G>A c.166G>A (p.Val56Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.176626473A>C | CA447706551 | SNCB | c.207T>G (p.Ala69=) n.804T>G c.165T>G (p.Ala55=) | |
| 5 | g.176626473A>G | CA447706552 | SNCB | c.207T>C (p.Ala69=) n.804T>C c.165T>C (p.Ala55=) | |
| 5 | g.176626473A>T | CA447706554 | SNCB | c.207T>A (p.Ala69=) n.804T>A c.165T>A (p.Ala55=) | |
| 5 | g.176626474G>A | CA362261315 | SNCB | c.206C>T (p.Ala69Val) n.803C>T c.164C>T (p.Ala55Val) | |
| 5 | g.176626474G>C | CA362261319 | SNCB | c.206C>G (p.Ala69Gly) n.803C>G c.164C>G (p.Ala55Gly) | |
| 5 | g.176626474G>T | CA362261317 | SNCB | c.206C>A (p.Ala69Asp) n.803C>A c.164C>A (p.Ala55Asp) | |
| 5 | g.176626475C>A | CA362261321 | SNCB | c.205G>T (p.Ala69Ser) n.802G>T c.163G>T (p.Ala55Ser) | |
| 5 | g.176626475C>G | CA362261323 | SNCB | c.205G>C (p.Ala69Pro) n.802G>C c.163G>C (p.Ala55Pro) | |
| 5 | g.176626475C>T | CA362261325 | SNCB | c.205G>A (p.Ala69Thr) n.802G>A c.163G>A (p.Ala55Thr) | |
| 5 | g.176626476T>A | CA447706560 | SNCB | c.204A>T (p.Gly68=) n.801A>T c.162A>T (p.Gly54=) | |
| 5 | g.176626476T>C | CA3572202 | SNCB | c.204A>G (p.Gly68=) n.801A>G c.162A>G (p.Gly54=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.176626476T>G | CA447706563 | SNCB | c.204A>C (p.Gly68=) n.801A>C c.162A>C (p.Gly54=) | |
| 5 | g.176626476T= | CA1603204553 | SNCB | c.204A= (p.Gly68=) n.801A= c.162A= (p.Gly54=) | |
| 5 | g.176626477C>A | CA362261331 | SNCB | c.203G>T (p.Gly68Val) n.800G>T c.161G>T (p.Gly54Val) | |
| 5 | g.176626477C= | CA1603204558 | SNCB | c.203G= (p.Gly68=) n.800G= c.161G= (p.Gly54=) | |
| 5 | g.176626477C>G | CA362261330 | SNCB | c.203G>C (p.Gly68Ala) n.800G>C c.161G>C (p.Gly54Ala) | |
| 5 | g.176626477C>T | CA3572203 | SNCB | c.203G>A (p.Gly68Glu) n.800G>A c.161G>A (p.Gly54Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.176626478C>A | CA362261332 | SNCB | c.202G>T (p.Gly68Ter) n.799G>T c.160G>T (p.Gly54Ter) | |
| 5 | g.176626478C>G | CA362261334 | SNCB | c.202G>C (p.Gly68Arg) n.799G>C c.160G>C (p.Gly54Arg) | |
| 5 | g.176626478C>T | CA362261333 | SNCB | c.202G>A (p.Gly68Arg) n.799G>A c.160G>A (p.Gly54Arg) | gnomAD v4 |
| 5 | g.176626479T>A | CA447706570 | SNCB | c.201A>T (p.Gly67=) n.798A>T c.159A>T (p.Gly53=) | |
| 5 | g.176626479T>C | CA447706573 | SNCB | c.201A>G (p.Gly67=) n.798A>G c.159A>G (p.Gly53=) | |
| 5 | g.176626479T>G | CA447706571 | SNCB | c.201A>C (p.Gly67=) n.798A>C c.159A>C (p.Gly53=) | |
| 5 | g.176626480C>A | CA362261336 | SNCB | c.200G>T (p.Gly67Val) n.797G>T c.158G>T (p.Gly53Val) | |
| 5 | g.176626480C>G | CA362261337 | SNCB | c.200G>C (p.Gly67Ala) n.797G>C c.158G>C (p.Gly53Ala) | |
| 5 | g.176626480C>T | CA362261339 | SNCB | c.200G>A (p.Gly67Glu) n.797G>A c.158G>A (p.Gly53Glu) | |
| 5 | g.176626481C>A | CA362261340 | SNCB | c.199G>T (p.Gly67Ter) n.796G>T c.157G>T (p.Gly53Ter) | |
| 5 | g.176626481C>G | CA362261341 | SNCB | c.199G>C (p.Gly67Arg) n.796G>C c.157G>C (p.Gly53Arg) | |
| 5 | g.176626481C>T | CA362261342 | SNCB | c.199G>A (p.Gly67Arg) n.796G>A c.157G>A (p.Gly53Arg) | |
| 5 | g.176626482C>A | CA447706579 | SNCB | c.198G>T (p.Leu66=) n.795G>T c.156G>T (p.Leu52=) | |
| 5 | g.176626482C>G | CA447706581 | SNCB | c.198G>C (p.Leu66=) n.795G>C c.156G>C (p.Leu52=) | |
| 5 | g.176626482C>T | CA447706583 | SNCB | c.198G>A (p.Leu66=) n.795G>A c.156G>A (p.Leu52=) | |
| 5 | g.176626483A>C | CA362261343 | SNCB | c.197T>G (p.Leu66Arg) n.794T>G c.155T>G (p.Leu52Arg) | |
| 5 | g.176626483A>G | CA362261344 | SNCB | c.197T>C (p.Leu66Pro) n.794T>C c.155T>C (p.Leu52Pro) | |
| 5 | g.176626483A>T | CA362261345 | SNCB | c.197T>A (p.Leu66Gln) n.794T>A c.155T>A (p.Leu52Gln) | |
| 5 | g.176626484G>A | CA447706586 | SNCB | c.196C>T (p.Leu66=) n.793C>T c.154C>T (p.Leu52=) | |
| 5 | g.176626484G>C | CA362261348 | SNCB | c.196C>G (p.Leu66Val) n.793C>G c.154C>G (p.Leu52Val) | |
| 5 | g.176626484G>T | CA362261349 | SNCB | c.196C>A (p.Leu66Met) n.793C>A c.154C>A (p.Leu52Met) | |
| 5 | g.176626485A>C | CA362261352 | SNCB | c.195T>G (p.His65Gln) n.792T>G c.153T>G (p.His51Gln) | |
| 5 | g.176626485A>G | CA447706591 | SNCB | c.195T>C (p.His65=) n.792T>C c.153T>C (p.His51=) | |
| 5 | g.176626485A>T | CA362261351 | SNCB | c.195T>A (p.His65Gln) n.792T>A c.153T>A (p.His51Gln) | |
| 5 | g.176626486T>A | CA362261354 | SNCB | c.194A>T (p.His65Leu) n.791A>T c.152A>T (p.His51Leu) | |
| 5 | g.176626486T>C | CA362261356 | SNCB | c.194A>G (p.His65Arg) n.791A>G c.152A>G (p.His51Arg) | |
| 5 | g.176626486T>G | CA362261357 | SNCB | c.194A>C (p.His65Pro) n.791A>C c.152A>C (p.His51Pro) | |
| 5 | g.176626487G>A | CA362261359 | SNCB | c.193C>T (p.His65Tyr) n.790C>T c.151C>T (p.His51Tyr) | |
| 5 | g.176626487G>C | CA362261360 | SNCB | c.193C>G (p.His65Asp) n.790C>G c.151C>G (p.His51Asp) | |
| 5 | g.176626487G>T | CA362261363 | SNCB | c.193C>A (p.His65Asn) n.790C>A c.151C>A (p.His51Asn) | |
| 5 | g.176626488T>A | CA447706596 | SNCB | c.192A>T (p.Ser64=) n.789A>T c.150A>T (p.Ser50=) | |
| 5 | g.176626488T>C | CA447706598 | SNCB | c.192A>G (p.Ser64=) n.789A>G c.150A>G (p.Ser50=) | gnomAD v4 |
| 5 | g.176626488T>G | CA447706600 | SNCB | c.192A>C (p.Ser64=) n.789A>C c.150A>C (p.Ser50=) | |
| 5 | g.176626489G>A | CA362261365 | SNCB | c.191C>T (p.Ser64Leu) n.788C>T c.149C>T (p.Ser50Leu) | |
| 5 | g.176626489G>C | CA362261366 | SNCB | c.191C>G (p.Ser64Ter) n.788C>G c.149C>G (p.Ser50Ter) | |
| 5 | g.176626489G>T | CA362261368 | SNCB | c.191C>A (p.Ser64Ter) n.788C>A c.149C>A (p.Ser50Ter) | |
| 5 | g.176626490A= | CA1603204564 | SNCB | c.190T= (p.Ser64=) n.787T= c.148T= (p.Ser50=) | |
| 5 | g.176626490A>C | CA362261370 | SNCB | c.190T>G (p.Ser64Ala) n.787T>G c.148T>G (p.Ser50Ala) | |
| 5 | g.176626490A>G | CA362261372 | SNCB | c.190T>C (p.Ser64Pro) n.787T>C c.148T>C (p.Ser50Pro) | |
| 5 | g.176626490A>T | CA362261373 | SNCB | c.190T>A (p.Ser64Thr) n.787T>A c.148T>A (p.Ser50Thr) | dbSNP gnomAD v4 |