UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149038287A= | CA1590317286 | SH3TC2 | c.891+8T= c.1001+8T= (n.1001+8T=) c.263+8T= (n.263+8T=) c.*259+8T= (n.*259+8T=) n.468+8T= c.401+8T= (n.401+8T=) c.*781+8T= (n.*781+8T=) c.980+8T= (n.980+8T=) | |
| 5 | g.149038287A>G | CA3499331 | SH3TC2 | c.891+8T>C c.1001+8T>C (n.1001+8T>C) c.263+8T>C (n.263+8T>C) c.*259+8T>C (n.*259+8T>C) n.468+8T>C c.401+8T>C (n.401+8T>C) c.*781+8T>C (n.*781+8T>C) c.980+8T>C (n.980+8T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149038290C>A | CA916080360 | SH3TC2 | c.891+5G>T c.1001+5G>T (n.1001+5G>T) c.263+5G>T (n.263+5G>T) c.*259+5G>T (n.*259+5G>T) n.468+5G>T c.401+5G>T (n.401+5G>T) c.*781+5G>T (n.*781+5G>T) c.980+5G>T (n.980+5G>T) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149038290C= | CA1590317287 | SH3TC2 | c.891+5G= c.1001+5G= (n.1001+5G=) c.263+5G= (n.263+5G=) c.*259+5G= (n.*259+5G=) n.468+5G= c.401+5G= (n.401+5G=) c.*781+5G= (n.*781+5G=) c.980+5G= (n.980+5G=) | |
| 5 | g.149038290C>T | CA2578445821 | SH3TC2 | c.891+5G>A c.1001+5G>A (n.1001+5G>A) c.263+5G>A (n.263+5G>A) c.*259+5G>A (n.*259+5G>A) n.468+5G>A c.401+5G>A (n.401+5G>A) c.*781+5G>A (n.*781+5G>A) c.980+5G>A (n.980+5G>A) | |
| 5 | g.149038291T>C | CA563955093 | SH3TC2 | c.891+4A>G c.1001+4A>G (n.1001+4A>G) c.263+4A>G (n.263+4A>G) c.*259+4A>G (n.*259+4A>G) n.468+4A>G c.401+4A>G (n.401+4A>G) c.*781+4A>G (n.*781+4A>G) c.980+4A>G (n.980+4A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038291T= | CA1590317288 | SH3TC2 | c.891+4A= c.1001+4A= (n.1001+4A=) c.263+4A= (n.263+4A=) c.*259+4A= (n.*259+4A=) n.468+4A= c.401+4A= (n.401+4A=) c.*781+4A= (n.*781+4A=) c.980+4A= (n.980+4A=) | |
| 5 | g.149038292C>T | CA2578445822 | SH3TC2 | c.891+3G>A c.1001+3G>A (n.1001+3G>A) c.263+3G>A (n.263+3G>A) c.*259+3G>A (n.*259+3G>A) n.468+3G>A c.401+3G>A (n.401+3G>A) c.*781+3G>A (n.*781+3G>A) c.980+3G>A (n.980+3G>A) | |
| 5 | g.149038293A>C | CA361672105 | SH3TC2 | c.891+2T>G c.1001+2T>G (n.1001+2T>G) c.263+2T>G (n.263+2T>G) c.*259+2T>G (n.*259+2T>G) n.468+2T>G c.401+2T>G (n.401+2T>G) c.*781+2T>G (n.*781+2T>G) c.980+2T>G (n.980+2T>G) | |
| 5 | g.149038293A>G | CA361672102 | SH3TC2 | c.891+2T>C c.1001+2T>C (n.1001+2T>C) c.263+2T>C (n.263+2T>C) c.*259+2T>C (n.*259+2T>C) n.468+2T>C c.401+2T>C (n.401+2T>C) c.*781+2T>C (n.*781+2T>C) c.980+2T>C (n.980+2T>C) | |
| 5 | g.149038293A>T | CA361672098 | SH3TC2 | c.891+2T>A c.1001+2T>A (n.1001+2T>A) c.263+2T>A (n.263+2T>A) c.*259+2T>A (n.*259+2T>A) n.468+2T>A c.401+2T>A (n.401+2T>A) c.*781+2T>A (n.*781+2T>A) c.980+2T>A (n.980+2T>A) | |
| 5 | g.149038294C>A | CA361672109 | SH3TC2 | c.891+1G>T c.1001+1G>T (n.1001+1G>T) c.263+1G>T (n.263+1G>T) c.*259+1G>T (n.*259+1G>T) n.468+1G>T c.401+1G>T (n.401+1G>T) c.*781+1G>T (n.*781+1G>T) c.980+1G>T (n.980+1G>T) | |
| 5 | g.149038294C>G | CA361672114 | SH3TC2 | c.891+1G>C c.1001+1G>C (n.1001+1G>C) c.263+1G>C (n.263+1G>C) c.*259+1G>C (n.*259+1G>C) n.468+1G>C c.401+1G>C (n.401+1G>C) c.*781+1G>C (n.*781+1G>C) c.980+1G>C (n.980+1G>C) | |
| 5 | g.149038294C>T | CA361672119 | SH3TC2 | c.891+1G>A c.1001+1G>A (n.1001+1G>A) c.263+1G>A (n.263+1G>A) c.*259+1G>A (n.*259+1G>A) n.468+1G>A c.401+1G>A (n.401+1G>A) c.*781+1G>A (n.*781+1G>A) c.980+1G>A (n.980+1G>A) | |
| 5 | g.149038295A= | CA1590317289 | SH3TC2 | c.891T= c.1001T= (p.Met334=) c.263T= (p.Ile88=) c.*259T= (n.*259T=) c.1001T= (p.Ile334=) n.468T= c.401T= (p.Met134=) c.*781T= (n.*781T=) c.980T= (p.Met327=) | |
| 5 | g.149038295A>C | CA361672122 | SH3TC2 | c.891T>G c.1001T>G (p.Met334Arg) c.263T>G (p.Ile88Arg) c.*259T>G (n.*259T>G) c.1001T>G (p.Ile334Ser) n.468T>G c.401T>G (p.Met134Arg) c.*781T>G (n.*781T>G) c.980T>G (p.Met327Arg) | |
| 5 | g.149038295A>G | CA3499332 | SH3TC2 | c.891T>C c.1001T>C (p.Met334Thr) c.263T>C (p.Ile88Thr) c.*259T>C (n.*259T>C) c.1001T>C (p.Ile334Thr) n.468T>C c.401T>C (p.Met134Thr) c.*781T>C (n.*781T>C) c.980T>C (p.Met327Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149038295A>T | CA361672135 | SH3TC2 | c.891T>A c.1001T>A (p.Met334Lys) c.263T>A (p.Ile88Lys) c.*259T>A (n.*259T>A) c.1001T>A (p.Ile334Asn) n.468T>A c.401T>A (p.Met134Lys) c.*781T>A (n.*781T>A) c.980T>A (p.Met327Lys) | |
| 5 | g.149038296T>A | CA3499334 | SH3TC2 | c.890A>T c.1000A>T (p.Met334Leu) c.262A>T (p.Ile88Leu) c.*258A>T (n.*258A>T) c.1000A>T (p.Ile334Phe) n.467A>T c.400A>T (p.Met134Leu) c.*780A>T (n.*780A>T) c.979A>T (p.Met327Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038296T>C | CA3499333 | SH3TC2 | c.890A>G c.1000A>G (p.Met334Val) c.262A>G (p.Ile88Val) c.*258A>G (n.*258A>G) c.1000A>G (p.Ile334Val) n.467A>G c.400A>G (p.Met134Val) c.*780A>G (n.*780A>G) c.979A>G (p.Met327Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038296T>G | CA361672146 | SH3TC2 | c.890A>C c.1000A>C (p.Met334Leu) c.262A>C (p.Ile88Leu) c.*258A>C (n.*258A>C) c.1000A>C (p.Ile334Leu) n.467A>C c.400A>C (p.Met134Leu) c.*780A>C (n.*780A>C) c.979A>C (p.Met327Leu) | gnomAD v4 |
| 5 | g.149038296T= | CA1590317290 | SH3TC2 | c.890A= c.1000A= (p.Met334=) c.262A= (p.Ile88=) c.*258A= (n.*258A=) c.1000A= (p.Ile334=) n.467A= c.400A= (p.Met134=) c.*780A= (n.*780A=) c.979A= (p.Met327=) | |
| 5 | g.149038297T>A | CA447109373 | SH3TC2 | c.889A>T c.999A>T (p.Pro333=) c.261A>T (p.Pro87=) c.*257A>T (n.*257A>T) n.466A>T c.399A>T (p.Pro133=) c.*779A>T (n.*779A>T) c.978A>T (p.Pro326=) | |
| 5 | g.149038297T>C | CA447109374 | SH3TC2 | c.889A>G c.999A>G (p.Pro333=) c.261A>G (p.Pro87=) c.*257A>G (n.*257A>G) n.466A>G c.399A>G (p.Pro133=) c.*779A>G (n.*779A>G) c.978A>G (p.Pro326=) | |
| 5 | g.149038297T>G | CA447109375 | SH3TC2 | c.889A>C c.999A>C (p.Pro333=) c.261A>C (p.Pro87=) c.*257A>C (n.*257A>C) n.466A>C c.399A>C (p.Pro133=) c.*779A>C (n.*779A>C) c.978A>C (p.Pro326=) | |
| 5 | g.149038298G>A | CA361672150 | SH3TC2 | c.888C>T c.998C>T (p.Pro333Leu) c.260C>T (p.Pro87Leu) c.*256C>T (n.*256C>T) n.465C>T c.398C>T (p.Pro133Leu) c.*778C>T (n.*778C>T) c.977C>T (p.Pro326Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149038298G>C | CA361672154 | SH3TC2 | c.888C>G c.998C>G (p.Pro333Arg) c.260C>G (p.Pro87Arg) c.*256C>G (n.*256C>G) n.465C>G c.398C>G (p.Pro133Arg) c.*778C>G (n.*778C>G) c.977C>G (p.Pro326Arg) | |
| 5 | g.149038298G= | CA1590317291 | SH3TC2 | c.888C= c.998C= (p.Pro333=) c.260C= (p.Pro87=) c.*256C= (n.*256C=) n.465C= c.398C= (p.Pro133=) c.*778C= (n.*778C=) c.977C= (p.Pro326=) | |
| 5 | g.149038298G>T | CA361672158 | SH3TC2 | c.888C>A c.998C>A (p.Pro333Gln) c.260C>A (p.Pro87Gln) c.*256C>A (n.*256C>A) n.465C>A c.398C>A (p.Pro133Gln) c.*778C>A (n.*778C>A) c.977C>A (p.Pro326Gln) | |
| 5 | g.149038299G>A | CA361672175 | SH3TC2 | c.887C>T c.997C>T (p.Pro333Ser) c.259C>T (p.Pro87Ser) c.*255C>T (n.*255C>T) n.464C>T c.397C>T (p.Pro133Ser) c.*777C>T (n.*777C>T) c.976C>T (p.Pro326Ser) | |
| 5 | g.149038299G>C | CA361672174 | SH3TC2 | c.887C>G c.997C>G (p.Pro333Ala) c.259C>G (p.Pro87Ala) c.*255C>G (n.*255C>G) n.464C>G c.397C>G (p.Pro133Ala) c.*777C>G (n.*777C>G) c.976C>G (p.Pro326Ala) | gnomAD v4 |
| 5 | g.149038299G>T | CA361672169 | SH3TC2 | c.887C>A c.997C>A (p.Pro333Thr) c.259C>A (p.Pro87Thr) c.*255C>A (n.*255C>A) n.464C>A c.397C>A (p.Pro133Thr) c.*777C>A (n.*777C>A) c.976C>A (p.Pro326Thr) | |
| 5 | g.149038300G>A | CA447109376 | SH3TC2 | c.886C>T c.996C>T (p.Ser332=) c.258C>T (p.Ser86=) c.*254C>T (n.*254C>T) n.463C>T c.396C>T (p.Ser132=) c.*776C>T (n.*776C>T) c.975C>T (p.Ser325=) | gnomAD v4 |
| 5 | g.149038300G>C | CA447109377 | SH3TC2 | c.886C>G c.996C>G (p.Ser332=) c.258C>G (p.Ser86=) c.*254C>G (n.*254C>G) n.463C>G c.396C>G (p.Ser132=) c.*776C>G (n.*776C>G) c.975C>G (p.Ser325=) | |
| 5 | g.149038300G>T | CA447109378 | SH3TC2 | c.886C>A c.996C>A (p.Ser332=) c.258C>A (p.Ser86=) c.*254C>A (n.*254C>A) n.463C>A c.396C>A (p.Ser132=) c.*776C>A (n.*776C>A) c.975C>A (p.Ser325=) | |
| 5 | g.149038301G>A | CA361672176 | SH3TC2 | c.885C>T c.995C>T (p.Ser332Phe) c.257C>T (p.Ser86Phe) c.*253C>T (n.*253C>T) n.462C>T c.395C>T (p.Ser132Phe) c.*775C>T (n.*775C>T) c.974C>T (p.Ser325Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149038301G>C | CA361672178 | SH3TC2 | c.885C>G c.995C>G (p.Ser332Cys) c.257C>G (p.Ser86Cys) c.*253C>G (n.*253C>G) n.462C>G c.395C>G (p.Ser132Cys) c.*775C>G (n.*775C>G) c.974C>G (p.Ser325Cys) | |
| 5 | g.149038301G= | CA1590317292 | SH3TC2 | c.885C= c.995C= (p.Ser332=) c.257C= (p.Ser86=) c.*253C= (n.*253C=) n.462C= c.395C= (p.Ser132=) c.*775C= (n.*775C=) c.974C= (p.Ser325=) | |
| 5 | g.149038301G>T | CA361672177 | SH3TC2 | c.885C>A c.995C>A (p.Ser332Tyr) c.257C>A (p.Ser86Tyr) c.*253C>A (n.*253C>A) n.462C>A c.395C>A (p.Ser132Tyr) c.*775C>A (n.*775C>A) c.974C>A (p.Ser325Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.149038302A>C | CA361672181 | SH3TC2 | c.884T>G c.994T>G (p.Ser332Ala) c.256T>G (p.Ser86Ala) c.*252T>G (n.*252T>G) n.461T>G c.394T>G (p.Ser132Ala) c.*774T>G (n.*774T>G) c.973T>G (p.Ser325Ala) | |
| 5 | g.149038302A>G | CA361672185 | SH3TC2 | c.884T>C c.994T>C (p.Ser332Pro) c.256T>C (p.Ser86Pro) c.*252T>C (n.*252T>C) n.461T>C c.394T>C (p.Ser132Pro) c.*774T>C (n.*774T>C) c.973T>C (p.Ser325Pro) | |
| 5 | g.149038302A>T | CA361672183 | SH3TC2 | c.884T>A c.994T>A (p.Ser332Thr) c.256T>A (p.Ser86Thr) c.*252T>A (n.*252T>A) n.461T>A c.394T>A (p.Ser132Thr) c.*774T>A (n.*774T>A) c.973T>A (p.Ser325Thr) | |
| 5 | g.149038303A= | CA1590317293 | SH3TC2 | c.883T= c.993T= (p.Tyr331=) c.255T= (p.Tyr85=) c.*251T= (n.*251T=) n.460T= c.393T= (p.Tyr131=) c.*773T= (n.*773T=) c.972T= (p.Tyr324=) | |
| 5 | g.149038303A>C | CA361672190 | SH3TC2 | c.883T>G c.993T>G (p.Tyr331Ter) c.255T>G (p.Tyr85Ter) c.*251T>G (n.*251T>G) n.460T>G c.393T>G (p.Tyr131Ter) c.*773T>G (n.*773T>G) c.972T>G (p.Tyr324Ter) | |
| 5 | g.149038303A>G | CA447109380 | SH3TC2 | c.883T>C c.993T>C (p.Tyr331=) c.255T>C (p.Tyr85=) c.*251T>C (n.*251T>C) n.460T>C c.393T>C (p.Tyr131=) c.*773T>C (n.*773T>C) c.972T>C (p.Tyr324=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149038303A>T | CA361672192 | SH3TC2 | c.883T>A c.993T>A (p.Tyr331Ter) c.255T>A (p.Tyr85Ter) c.*251T>A (n.*251T>A) n.460T>A c.393T>A (p.Tyr131Ter) c.*773T>A (n.*773T>A) c.972T>A (p.Tyr324Ter) | |
| 5 | g.149038304T>A | CA361672200 | SH3TC2 | c.882A>T c.992A>T (p.Tyr331Phe) c.254A>T (p.Tyr85Phe) c.*250A>T (n.*250A>T) n.459A>T c.392A>T (p.Tyr131Phe) c.*772A>T (n.*772A>T) c.971A>T (p.Tyr324Phe) | |
| 5 | g.149038304T>C | CA3499335 | SH3TC2 | c.882A>G c.992A>G (p.Tyr331Cys) c.254A>G (p.Tyr85Cys) c.*250A>G (n.*250A>G) n.459A>G c.392A>G (p.Tyr131Cys) c.*772A>G (n.*772A>G) c.971A>G (p.Tyr324Cys) | dbSNP ExAC gnomAD v4 |
| 5 | g.149038304T>G | CA361672217 | SH3TC2 | c.882A>C c.992A>C (p.Tyr331Ser) c.254A>C (p.Tyr85Ser) c.*250A>C (n.*250A>C) n.459A>C c.392A>C (p.Tyr131Ser) c.*772A>C (n.*772A>C) c.971A>C (p.Tyr324Ser) | |
| 5 | g.149038304T= | CA1590317294 | SH3TC2 | c.882A= c.992A= (p.Tyr331=) c.254A= (p.Tyr85=) c.*250A= (n.*250A=) n.459A= c.392A= (p.Tyr131=) c.*772A= (n.*772A=) c.971A= (p.Tyr324=) | |
| 5 | g.149038305A>C | CA361672221 | SH3TC2 | c.881T>G c.991T>G (p.Tyr331Asp) c.253T>G (p.Tyr85Asp) c.*249T>G (n.*249T>G) n.458T>G c.391T>G (p.Tyr131Asp) c.*771T>G (n.*771T>G) c.970T>G (p.Tyr324Asp) | |
| 5 | g.149038305A>G | CA361672232 | SH3TC2 | c.881T>C c.991T>C (p.Tyr331His) c.253T>C (p.Tyr85His) c.*249T>C (n.*249T>C) n.458T>C c.391T>C (p.Tyr131His) c.*771T>C (n.*771T>C) c.970T>C (p.Tyr324His) | |
| 5 | g.149038305A>T | CA361672236 | SH3TC2 | c.881T>A c.991T>A (p.Tyr331Asn) c.253T>A (p.Tyr85Asn) c.*249T>A (n.*249T>A) n.458T>A c.391T>A (p.Tyr131Asn) c.*771T>A (n.*771T>A) c.970T>A (p.Tyr324Asn) | |
| 5 | g.149038306A>C | CA447109381 | SH3TC2 | c.880T>G c.990T>G (p.Ser330=) c.252T>G (p.Ser84=) c.*248T>G (n.*248T>G) n.457T>G c.390T>G (p.Ser130=) c.*770T>G (n.*770T>G) c.969T>G (p.Ser323=) | |
| 5 | g.149038306A>G | CA447109383 | SH3TC2 | c.880T>C c.990T>C (p.Ser330=) c.252T>C (p.Ser84=) c.*248T>C (n.*248T>C) n.457T>C c.390T>C (p.Ser130=) c.*770T>C (n.*770T>C) c.969T>C (p.Ser323=) | |
| 5 | g.149038306A>T | CA447109382 | SH3TC2 | c.880T>A c.990T>A (p.Ser330=) c.252T>A (p.Ser84=) c.*248T>A (n.*248T>A) n.457T>A c.390T>A (p.Ser130=) c.*770T>A (n.*770T>A) c.969T>A (p.Ser323=) | |
| 5 | g.149038307G>A | CA361672243 | SH3TC2 | c.879C>T c.989C>T (p.Ser330Phe) c.251C>T (p.Ser84Phe) c.*247C>T (n.*247C>T) n.456C>T c.389C>T (p.Ser130Phe) c.*769C>T (n.*769C>T) c.968C>T (p.Ser323Phe) | |
| 5 | g.149038307G>C | CA361672246 | SH3TC2 | c.879C>G c.989C>G (p.Ser330Cys) c.251C>G (p.Ser84Cys) c.*247C>G (n.*247C>G) n.456C>G c.389C>G (p.Ser130Cys) c.*769C>G (n.*769C>G) c.968C>G (p.Ser323Cys) | |
| 5 | g.149038307G>T | CA361672254 | SH3TC2 | c.879C>A c.989C>A (p.Ser330Tyr) c.251C>A (p.Ser84Tyr) c.*247C>A (n.*247C>A) n.456C>A c.389C>A (p.Ser130Tyr) c.*769C>A (n.*769C>A) c.968C>A (p.Ser323Tyr) | |
| 5 | g.149038308A>C | CA361672259 | SH3TC2 | c.878T>G c.988T>G (p.Ser330Ala) c.250T>G (p.Ser84Ala) c.*246T>G (n.*246T>G) n.455T>G c.388T>G (p.Ser130Ala) c.*768T>G (n.*768T>G) c.967T>G (p.Ser323Ala) | |
| 5 | g.149038308A>G | CA361672262 | SH3TC2 | c.878T>C c.988T>C (p.Ser330Pro) c.250T>C (p.Ser84Pro) c.*246T>C (n.*246T>C) n.455T>C c.388T>C (p.Ser130Pro) c.*768T>C (n.*768T>C) c.967T>C (p.Ser323Pro) | |
| 5 | g.149038308A>T | CA361672265 | SH3TC2 | c.878T>A c.988T>A (p.Ser330Thr) c.250T>A (p.Ser84Thr) c.*246T>A (n.*246T>A) n.455T>A c.388T>A (p.Ser130Thr) c.*768T>A (n.*768T>A) c.967T>A (p.Ser323Thr) | |
| 5 | g.149038309A>C | CA361672268 | SH3TC2 | c.877T>G c.987T>G (p.Asp329Glu) c.249T>G (p.Asp83Glu) c.*245T>G (n.*245T>G) n.454T>G c.387T>G (p.Asp129Glu) c.*767T>G (n.*767T>G) c.966T>G (p.Asp322Glu) | |
| 5 | g.149038309A>G | CA447109384 | SH3TC2 | c.877T>C c.987T>C (p.Asp329=) c.249T>C (p.Asp83=) c.*245T>C (n.*245T>C) n.454T>C c.387T>C (p.Asp129=) c.*767T>C (n.*767T>C) c.966T>C (p.Asp322=) | |
| 5 | g.149038309A>T | CA361672271 | SH3TC2 | c.877T>A c.987T>A (p.Asp329Glu) c.249T>A (p.Asp83Glu) c.*245T>A (n.*245T>A) n.454T>A c.387T>A (p.Asp129Glu) c.*767T>A (n.*767T>A) c.966T>A (p.Asp322Glu) | gnomAD v4 |
| 5 | g.149038310T>A | CA361672274 | SH3TC2 | c.876A>T c.986A>T (p.Asp329Val) c.248A>T (p.Asp83Val) c.*244A>T (n.*244A>T) n.453A>T c.386A>T (p.Asp129Val) c.*766A>T (n.*766A>T) c.965A>T (p.Asp322Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149038310T>C | CA361672277 | SH3TC2 | c.876A>G c.986A>G (p.Asp329Gly) c.248A>G (p.Asp83Gly) c.*244A>G (n.*244A>G) n.453A>G c.386A>G (p.Asp129Gly) c.*766A>G (n.*766A>G) c.965A>G (p.Asp322Gly) | gnomAD v4 |
| 5 | g.149038310T>G | CA361672280 | SH3TC2 | c.876A>C c.986A>C (p.Asp329Ala) c.248A>C (p.Asp83Ala) c.*244A>C (n.*244A>C) n.453A>C c.386A>C (p.Asp129Ala) c.*766A>C (n.*766A>C) c.965A>C (p.Asp322Ala) | gnomAD v3 gnomAD v4 |
| 5 | g.149038310T= | CA1590317295 | SH3TC2 | c.876A= c.986A= (p.Asp329=) c.248A= (p.Asp83=) c.*244A= (n.*244A=) n.453A= c.386A= (p.Asp129=) c.*766A= (n.*766A=) c.965A= (p.Asp322=) | |
| 5 | g.149038311C>A | CA361672283 | SH3TC2 | c.875G>T c.985G>T (p.Asp329Tyr) c.247G>T (p.Asp83Tyr) c.*243G>T (n.*243G>T) n.452G>T c.385G>T (p.Asp129Tyr) c.*765G>T (n.*765G>T) c.964G>T (p.Asp322Tyr) | |
| 5 | g.149038311C= | CA1590317296 | SH3TC2 | c.875G= c.985G= (p.Asp329=) c.247G= (p.Asp83=) c.*243G= (n.*243G=) n.452G= c.385G= (p.Asp129=) c.*765G= (n.*765G=) c.964G= (p.Asp322=) | |
| 5 | g.149038311C>G | CA3499336 | SH3TC2 | c.875G>C c.985G>C (p.Asp329His) c.247G>C (p.Asp83His) c.*243G>C (n.*243G>C) n.452G>C c.385G>C (p.Asp129His) c.*765G>C (n.*765G>C) c.964G>C (p.Asp322His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149038311C>T | CA361672292 | SH3TC2 | c.875G>A c.985G>A (p.Asp329Asn) c.247G>A (p.Asp83Asn) c.*243G>A (n.*243G>A) n.452G>A c.385G>A (p.Asp129Asn) c.*765G>A (n.*765G>A) c.964G>A (p.Asp322Asn) | |
| 5 | g.149038312A>C | CA447109386 | SH3TC2 | c.874T>G c.984T>G (p.Pro328=) c.246T>G (p.Pro82=) c.*242T>G (n.*242T>G) n.451T>G c.384T>G (p.Pro128=) c.*764T>G (n.*764T>G) c.963T>G (p.Pro321=) | |
| 5 | g.149038312A>G | CA447109387 | SH3TC2 | c.874T>C c.984T>C (p.Pro328=) c.246T>C (p.Pro82=) c.*242T>C (n.*242T>C) n.451T>C c.384T>C (p.Pro128=) c.*764T>C (n.*764T>C) c.963T>C (p.Pro321=) | |
| 5 | g.149038312A>T | CA447109388 | SH3TC2 | c.874T>A c.984T>A (p.Pro328=) c.246T>A (p.Pro82=) c.*242T>A (n.*242T>A) n.451T>A c.384T>A (p.Pro128=) c.*764T>A (n.*764T>A) c.963T>A (p.Pro321=) | gnomAD v4 |
| 5 | g.149038313G>A | CA361672297 | SH3TC2 | c.873C>T c.983C>T (p.Pro328Leu) c.245C>T (p.Pro82Leu) c.*241C>T (n.*241C>T) n.450C>T c.383C>T (p.Pro128Leu) c.*763C>T (n.*763C>T) c.962C>T (p.Pro321Leu) | gnomAD v4 |
| 5 | g.149038313G>C | CA361672299 | SH3TC2 | c.873C>G c.983C>G (p.Pro328Arg) c.245C>G (p.Pro82Arg) c.*241C>G (n.*241C>G) n.450C>G c.383C>G (p.Pro128Arg) c.*763C>G (n.*763C>G) c.962C>G (p.Pro321Arg) | |
| 5 | g.149038313G>T | CA361672301 | SH3TC2 | c.873C>A c.983C>A (p.Pro328His) c.245C>A (p.Pro82His) c.*241C>A (n.*241C>A) n.450C>A c.383C>A (p.Pro128His) c.*763C>A (n.*763C>A) c.962C>A (p.Pro321His) | |
| 5 | g.149038314G>A | CA361672302 | SH3TC2 | c.872C>T c.982C>T (p.Pro328Ser) c.244C>T (p.Pro82Ser) c.*240C>T (n.*240C>T) n.449C>T c.382C>T (p.Pro128Ser) c.*762C>T (n.*762C>T) c.961C>T (p.Pro321Ser) | |
| 5 | g.149038314G>C | CA361672305 | SH3TC2 | c.872C>G c.982C>G (p.Pro328Ala) c.244C>G (p.Pro82Ala) c.*240C>G (n.*240C>G) n.449C>G c.382C>G (p.Pro128Ala) c.*762C>G (n.*762C>G) c.961C>G (p.Pro321Ala) | gnomAD v4 |
| 5 | g.149038314G= | CA1590317297 | SH3TC2 | c.872C= c.982C= (p.Pro328=) c.244C= (p.Pro82=) c.*240C= (n.*240C=) n.449C= c.382C= (p.Pro128=) c.*762C= (n.*762C=) c.961C= (p.Pro321=) | |
| 5 | g.149038314G>T | CA128994861 | SH3TC2 | c.872C>A c.982C>A (p.Pro328Thr) c.244C>A (p.Pro82Thr) c.*240C>A (n.*240C>A) n.449C>A c.382C>A (p.Pro128Thr) c.*762C>A (n.*762C>A) c.961C>A (p.Pro321Thr) | dbSNP gnomAD v4 |
| 5 | g.149038315A= | CA1590317298 | SH3TC2 | c.871T= c.981T= (p.Asp327=) c.243T= (p.Asp81=) c.*239T= (n.*239T=) n.448T= c.381T= (p.Asp127=) c.*761T= (n.*761T=) c.960T= (p.Asp320=) | |
| 5 | g.149038315A>C | CA3499337 | SH3TC2 | c.871T>G c.981T>G (p.Asp327Glu) c.243T>G (p.Asp81Glu) c.*239T>G (n.*239T>G) n.448T>G c.381T>G (p.Asp127Glu) c.*761T>G (n.*761T>G) c.960T>G (p.Asp320Glu) | dbSNP ExAC gnomAD v2 |
| 5 | g.149038315A>G | CA447109389 | SH3TC2 | c.871T>C c.981T>C (p.Asp327=) c.243T>C (p.Asp81=) c.*239T>C (n.*239T>C) n.448T>C c.381T>C (p.Asp127=) c.*761T>C (n.*761T>C) c.960T>C (p.Asp320=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149038315A>T | CA361672312 | SH3TC2 | c.871T>A c.981T>A (p.Asp327Glu) c.243T>A (p.Asp81Glu) c.*239T>A (n.*239T>A) n.448T>A c.381T>A (p.Asp127Glu) c.*761T>A (n.*761T>A) c.960T>A (p.Asp320Glu) | |
| 5 | g.149038316T>A | CA361672316 | SH3TC2 | c.870A>T c.980A>T (p.Asp327Val) c.242A>T (p.Asp81Val) c.*238A>T (n.*238A>T) n.447A>T c.380A>T (p.Asp127Val) c.*760A>T (n.*760A>T) c.959A>T (p.Asp320Val) | |
| 5 | g.149038316T>C | CA361672319 | SH3TC2 | c.870A>G c.980A>G (p.Asp327Gly) c.242A>G (p.Asp81Gly) c.*238A>G (n.*238A>G) n.447A>G c.380A>G (p.Asp127Gly) c.*760A>G (n.*760A>G) c.959A>G (p.Asp320Gly) | |
| 5 | g.149038316T>G | CA361672322 | SH3TC2 | c.870A>C c.980A>C (p.Asp327Ala) c.242A>C (p.Asp81Ala) c.*238A>C (n.*238A>C) n.447A>C c.380A>C (p.Asp127Ala) c.*760A>C (n.*760A>C) c.959A>C (p.Asp320Ala) | |
| 5 | g.149038317C>A | CA361672327 | SH3TC2 | c.869G>T c.979G>T (p.Asp327Tyr) c.241G>T (p.Asp81Tyr) c.*237G>T (n.*237G>T) n.446G>T c.379G>T (p.Asp127Tyr) c.*759G>T (n.*759G>T) c.958G>T (p.Asp320Tyr) | COSMIC COSMIC |
| 5 | g.149038317C= | CA1590317299 | SH3TC2 | c.869G= c.979G= (p.Asp327=) c.241G= (p.Asp81=) c.*237G= (n.*237G=) n.446G= c.379G= (p.Asp127=) c.*759G= (n.*759G=) c.958G= (p.Asp320=) | |
| 5 | g.149038317C>G | CA361672329 | SH3TC2 | c.869G>C c.979G>C (p.Asp327His) c.241G>C (p.Asp81His) c.*237G>C (n.*237G>C) n.446G>C c.379G>C (p.Asp127His) c.*759G>C (n.*759G>C) c.958G>C (p.Asp320His) | |
| 5 | g.149038317C>T | CA3499338 | SH3TC2 | c.869G>A c.979G>A (p.Asp327Asn) c.241G>A (p.Asp81Asn) c.*237G>A (n.*237G>A) n.446G>A c.379G>A (p.Asp127Asn) c.*759G>A (n.*759G>A) c.958G>A (p.Asp320Asn) | dbSNP ExAC gnomAD v2 |
| 5 | g.149038318T>A | CA447109390 | SH3TC2 | c.868A>T c.978A>T (p.Ile326=) c.240A>T (p.Ile80=) c.*236A>T (n.*236A>T) n.445A>T c.378A>T (p.Ile126=) c.*758A>T (n.*758A>T) c.957A>T (p.Ile319=) | |
| 5 | g.149038318T>C | CA361672335 | SH3TC2 | c.868A>G c.978A>G (p.Ile326Met) c.240A>G (p.Ile80Met) c.*236A>G (n.*236A>G) n.445A>G c.378A>G (p.Ile126Met) c.*758A>G (n.*758A>G) c.957A>G (p.Ile319Met) | |
| 5 | g.149038318T>G | CA447109391 | SH3TC2 | c.868A>C c.978A>C (p.Ile326=) c.240A>C (p.Ile80=) c.*236A>C (n.*236A>C) n.445A>C c.378A>C (p.Ile126=) c.*758A>C (n.*758A>C) c.957A>C (p.Ile319=) | |
| 5 | g.149038319A= | CA1590317300 | SH3TC2 | c.867T= c.977T= (p.Ile326=) c.239T= (p.Ile80=) c.*235T= (n.*235T=) n.444T= c.377T= (p.Ile126=) c.*757T= (n.*757T=) c.956T= (p.Ile319=) | |
| 5 | g.149038319A>C | CA361672339 | SH3TC2 | c.867T>G c.977T>G (p.Ile326Arg) c.239T>G (p.Ile80Arg) c.*235T>G (n.*235T>G) n.444T>G c.377T>G (p.Ile126Arg) c.*757T>G (n.*757T>G) c.956T>G (p.Ile319Arg) | |
| 5 | g.149038319A>G | CA361672345 | SH3TC2 | c.867T>C c.977T>C (p.Ile326Thr) c.239T>C (p.Ile80Thr) c.*235T>C (n.*235T>C) n.444T>C c.377T>C (p.Ile126Thr) c.*757T>C (n.*757T>C) c.956T>C (p.Ile319Thr) | ClinVar dbSNP |
| 5 | g.149038319A>T | CA361672349 | SH3TC2 | c.867T>A c.977T>A (p.Ile326Lys) c.239T>A (p.Ile80Lys) c.*235T>A (n.*235T>A) n.444T>A c.377T>A (p.Ile126Lys) c.*757T>A (n.*757T>A) c.956T>A (p.Ile319Lys) | |
| 5 | g.149038320T>A | CA361672358 | SH3TC2 | c.866A>T c.976A>T (p.Ile326Leu) c.238A>T (p.Ile80Leu) c.*234A>T (n.*234A>T) n.443A>T c.376A>T (p.Ile126Leu) c.*756A>T (n.*756A>T) c.955A>T (p.Ile319Leu) | |
| 5 | g.149038320T>C | CA361672361 | SH3TC2 | c.866A>G c.976A>G (p.Ile326Val) c.238A>G (p.Ile80Val) c.*234A>G (n.*234A>G) n.443A>G c.376A>G (p.Ile126Val) c.*756A>G (n.*756A>G) c.955A>G (p.Ile319Val) | |
| 5 | g.149038320T>G | CA361672364 | SH3TC2 | c.866A>C c.976A>C (p.Ile326Leu) c.238A>C (p.Ile80Leu) c.*234A>C (n.*234A>C) n.443A>C c.376A>C (p.Ile126Leu) c.*756A>C (n.*756A>C) c.955A>C (p.Ile319Leu) | |
| 5 | g.149038321G>A | CA447109393 | SH3TC2 | c.865C>T c.975C>T (p.Asn325=) c.237C>T (p.Asn79=) c.*233C>T (n.*233C>T) n.442C>T c.375C>T (p.Asn125=) c.*755C>T (n.*755C>T) c.954C>T (p.Asn318=) | |
| 5 | g.149038321G>C | CA361672368 | SH3TC2 | c.865C>G c.975C>G (p.Asn325Lys) c.237C>G (p.Asn79Lys) c.*233C>G (n.*233C>G) n.442C>G c.375C>G (p.Asn125Lys) c.*755C>G (n.*755C>G) c.954C>G (p.Asn318Lys) | |
| 5 | g.149038321G>T | CA361672367 | SH3TC2 | c.865C>A c.975C>A (p.Asn325Lys) c.237C>A (p.Asn79Lys) c.*233C>A (n.*233C>A) n.442C>A c.375C>A (p.Asn125Lys) c.*755C>A (n.*755C>A) c.954C>A (p.Asn318Lys) | |
| 5 | g.149038321_149038322delinsGT | CA1590317301 | SH3TC2 | c.864_865delinsAC c.974_975delinsAC (p.Asn325=) c.236_237delinsAC (p.Asn79=) c.*232_*233delinsAC (n.*232_*233delinsAC) n.441_442delinsAC c.374_375delinsAC (p.Asn125=) c.*754_*755delinsAC (n.*754_*755delinsAC) c.953_954delinsAC (p.Asn318=) | |
| 5 | g.149038322T>A | CA361672369 | SH3TC2 | c.864A>T c.974A>T (p.Asn325Ile) c.236A>T (p.Asn79Ile) c.*232A>T (n.*232A>T) n.441A>T c.374A>T (p.Asn125Ile) c.*754A>T (n.*754A>T) c.953A>T (p.Asn318Ile) | |
| 5 | g.149038322T>C | CA361672372 | SH3TC2 | c.864A>G c.974A>G (p.Asn325Ser) c.236A>G (p.Asn79Ser) c.*232A>G (n.*232A>G) n.441A>G c.374A>G (p.Asn125Ser) c.*754A>G (n.*754A>G) c.953A>G (p.Asn318Ser) | |
| 5 | g.149038322T>G | CA361672375 | SH3TC2 | c.864A>C c.974A>C (p.Asn325Thr) c.236A>C (p.Asn79Thr) c.*232A>C (n.*232A>C) n.441A>C c.374A>C (p.Asn125Thr) c.*754A>C (n.*754A>C) c.953A>C (p.Asn318Thr) | |
| 5 | g.149038323del | CA915942734 | SH3TC2 | c.864del c.974del (p.Asn325ThrfsTer2) c.236del (p.Asn79ThrfsTer2) c.*232del (n.*232del) n.441del c.374del (p.Asn125ThrfsTer2) c.*754del (n.*754del) c.953del (p.Asn318ThrfsTer2) | ClinVar dbSNP |
| 5 | g.149038323T>A | CA361672378 | SH3TC2 | c.863A>T c.973A>T (p.Asn325Tyr) c.235A>T (p.Asn79Tyr) c.*231A>T (n.*231A>T) n.440A>T c.373A>T (p.Asn125Tyr) c.*753A>T (n.*753A>T) c.952A>T (p.Asn318Tyr) | |
| 5 | g.149038323T>C | CA361672381 | SH3TC2 | c.863A>G c.973A>G (p.Asn325Asp) c.235A>G (p.Asn79Asp) c.*231A>G (n.*231A>G) n.440A>G c.373A>G (p.Asn125Asp) c.*753A>G (n.*753A>G) c.952A>G (p.Asn318Asp) | |
| 5 | g.149038323T>G | CA361672383 | SH3TC2 | c.863A>C c.973A>C (p.Asn325His) c.235A>C (p.Asn79His) c.*231A>C (n.*231A>C) n.440A>C c.373A>C (p.Asn125His) c.*753A>C (n.*753A>C) c.952A>C (p.Asn318His) | dbSNP |
| 5 | g.149038323T= | CA1590317302 | SH3TC2 | c.863A= c.973A= (p.Asn325=) c.235A= (p.Asn79=) c.*231A= (n.*231A=) n.440A= c.373A= (p.Asn125=) c.*753A= (n.*753A=) c.952A= (p.Asn318=) | |
| 5 | g.149038324C>A | CA361672384 | SH3TC2 | c.862G>T c.972G>T (p.Arg324Ser) c.234G>T (p.Arg78Ser) c.*230G>T (n.*230G>T) n.439G>T c.372G>T (p.Arg124Ser) c.*752G>T (n.*752G>T) c.951G>T (p.Arg317Ser) | |
| 5 | g.149038324C>G | CA361672385 | SH3TC2 | c.862G>C c.972G>C (p.Arg324Ser) c.234G>C (p.Arg78Ser) c.*230G>C (n.*230G>C) n.439G>C c.372G>C (p.Arg124Ser) c.*752G>C (n.*752G>C) c.951G>C (p.Arg317Ser) | |
| 5 | g.149038324C>T | CA447109394 | SH3TC2 | c.862G>A c.972G>A (p.Arg324=) c.234G>A (p.Arg78=) c.*230G>A (n.*230G>A) n.439G>A c.372G>A (p.Arg124=) c.*752G>A (n.*752G>A) c.951G>A (p.Arg317=) | gnomAD v4 COSMIC COSMIC |
| 5 | g.149038325C>A | CA361672386 | SH3TC2 | c.861G>T c.971G>T (p.Arg324Met) c.233G>T (p.Arg78Met) c.*229G>T (n.*229G>T) n.438G>T c.371G>T (p.Arg124Met) c.*751G>T (n.*751G>T) c.950G>T (p.Arg317Met) | |
| 5 | g.149038325C= | CA1590317303 | SH3TC2 | c.861G= c.971G= (p.Arg324=) c.233G= (p.Arg78=) c.*229G= (n.*229G=) n.438G= c.371G= (p.Arg124=) c.*751G= (n.*751G=) c.950G= (p.Arg317=) | |
| 5 | g.149038325C>G | CA361672387 | SH3TC2 | c.861G>C c.971G>C (p.Arg324Thr) c.233G>C (p.Arg78Thr) c.*229G>C (n.*229G>C) n.438G>C c.371G>C (p.Arg124Thr) c.*751G>C (n.*751G>C) c.950G>C (p.Arg317Thr) | |
| 5 | g.149038325C>T | CA361672388 | SH3TC2 | c.861G>A c.971G>A (p.Arg324Lys) c.233G>A (p.Arg78Lys) c.*229G>A (n.*229G>A) n.438G>A c.371G>A (p.Arg124Lys) c.*751G>A (n.*751G>A) c.950G>A (p.Arg317Lys) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149038326del | CA2675889043 | SH3TC2 | c.860del c.970del (p.Arg324GlyfsTer3) c.232del (p.Arg78GlyfsTer3) c.*228del (n.*228del) n.437del c.370del (p.Arg124GlyfsTer3) c.*750del (n.*750del) c.949del (p.Arg317GlyfsTer3) | gnomAD v4 |
| 5 | g.149038326T>A | CA361672389 | SH3TC2 | c.860A>T c.970A>T (p.Arg324Trp) c.232A>T (p.Arg78Trp) c.*228A>T (n.*228A>T) n.437A>T c.370A>T (p.Arg124Trp) c.*750A>T (n.*750A>T) c.949A>T (p.Arg317Trp) | |
| 5 | g.149038326T>C | CA361672390 | SH3TC2 | c.860A>G c.970A>G (p.Arg324Gly) c.232A>G (p.Arg78Gly) c.*228A>G (n.*228A>G) n.437A>G c.370A>G (p.Arg124Gly) c.*750A>G (n.*750A>G) c.949A>G (p.Arg317Gly) | |
| 5 | g.149038326T>G | CA447109395 | SH3TC2 | c.860A>C c.970A>C (p.Arg324=) c.232A>C (p.Arg78=) c.*228A>C (n.*228A>C) n.437A>C c.370A>C (p.Arg124=) c.*750A>C (n.*750A>C) c.949A>C (p.Arg317=) | dbSNP |
| 5 | g.149038326T= | CA1590317304 | SH3TC2 | c.860A= c.970A= (p.Arg324=) c.232A= (p.Arg78=) c.*228A= (n.*228A=) n.437A= c.370A= (p.Arg124=) c.*750A= (n.*750A=) c.949A= (p.Arg317=) | |
| 5 | g.149038327G>A | CA447109411 | SH3TC2 | c.859C>T c.969C>T (p.Thr323=) c.231C>T (p.Thr77=) c.*227C>T (n.*227C>T) n.436C>T c.369C>T (p.Thr123=) c.*749C>T (n.*749C>T) c.948C>T (p.Thr316=) | gnomAD v4 |
| 5 | g.149038327G>C | CA447109408 | SH3TC2 | c.859C>G c.969C>G (p.Thr323=) c.231C>G (p.Thr77=) c.*227C>G (n.*227C>G) n.436C>G c.369C>G (p.Thr123=) c.*749C>G (n.*749C>G) c.948C>G (p.Thr316=) | |
| 5 | g.149038327G>T | CA447109399 | SH3TC2 | c.859C>A c.969C>A (p.Thr323=) c.231C>A (p.Thr77=) c.*227C>A (n.*227C>A) n.436C>A c.369C>A (p.Thr123=) c.*749C>A (n.*749C>A) c.948C>A (p.Thr316=) | |
| 5 | g.149038328G>A | CA361672391 | SH3TC2 | c.858C>T c.968C>T (p.Thr323Ile) c.230C>T (p.Thr77Ile) c.*226C>T (n.*226C>T) n.435C>T c.368C>T (p.Thr123Ile) c.*748C>T (n.*748C>T) c.947C>T (p.Thr316Ile) | dbSNP gnomAD v4 |
| 5 | g.149038328G>C | CA361672393 | SH3TC2 | c.858C>G c.968C>G (p.Thr323Ser) c.230C>G (p.Thr77Ser) c.*226C>G (n.*226C>G) n.435C>G c.368C>G (p.Thr123Ser) c.*748C>G (n.*748C>G) c.947C>G (p.Thr316Ser) | |
| 5 | g.149038328G= | CA1590317305 | SH3TC2 | c.858C= c.968C= (p.Thr323=) c.230C= (p.Thr77=) c.*226C= (n.*226C=) n.435C= c.368C= (p.Thr123=) c.*748C= (n.*748C=) c.947C= (p.Thr316=) | |
| 5 | g.149038328G>T | CA361672392 | SH3TC2 | c.858C>A c.968C>A (p.Thr323Asn) c.230C>A (p.Thr77Asn) c.*226C>A (n.*226C>A) n.435C>A c.368C>A (p.Thr123Asn) c.*748C>A (n.*748C>A) c.947C>A (p.Thr316Asn) | ClinVar dbSNP |
| 5 | g.149038329T>A | CA361672396 | SH3TC2 | c.857A>T c.967A>T (p.Thr323Ser) c.229A>T (p.Thr77Ser) c.*225A>T (n.*225A>T) n.434A>T c.367A>T (p.Thr123Ser) c.*747A>T (n.*747A>T) c.946A>T (p.Thr316Ser) | |
| 5 | g.149038329T>C | CA361672406 | SH3TC2 | c.857A>G c.967A>G (p.Thr323Ala) c.229A>G (p.Thr77Ala) c.*225A>G (n.*225A>G) n.434A>G c.367A>G (p.Thr123Ala) c.*747A>G (n.*747A>G) c.946A>G (p.Thr316Ala) | |
| 5 | g.149038329T>G | CA361672399 | SH3TC2 | c.857A>C c.967A>C (p.Thr323Pro) c.229A>C (p.Thr77Pro) c.*225A>C (n.*225A>C) n.434A>C c.367A>C (p.Thr123Pro) c.*747A>C (n.*747A>C) c.946A>C (p.Thr316Pro) | |
| 5 | g.149038330G>A | CA447109422 | SH3TC2 | c.856C>T c.966C>T (p.Pro322=) c.228C>T (p.Pro76=) c.*224C>T (n.*224C>T) n.433C>T c.366C>T (p.Pro122=) c.*746C>T (n.*746C>T) c.945C>T (p.Pro315=) | |
| 5 | g.149038330G>C | CA447109420 | SH3TC2 | c.856C>G c.966C>G (p.Pro322=) c.228C>G (p.Pro76=) c.*224C>G (n.*224C>G) n.433C>G c.366C>G (p.Pro122=) c.*746C>G (n.*746C>G) c.945C>G (p.Pro315=) | |
| 5 | g.149038330G>T | CA447109418 | SH3TC2 | c.856C>A c.966C>A (p.Pro322=) c.228C>A (p.Pro76=) c.*224C>A (n.*224C>A) n.433C>A c.366C>A (p.Pro122=) c.*746C>A (n.*746C>A) c.945C>A (p.Pro315=) | |
| 5 | g.149038331G>A | CA361672407 | SH3TC2 | c.855C>T c.965C>T (p.Pro322Leu) c.227C>T (p.Pro76Leu) c.*223C>T (n.*223C>T) n.432C>T c.365C>T (p.Pro122Leu) c.*745C>T (n.*745C>T) c.944C>T (p.Pro315Leu) | gnomAD v4 |
| 5 | g.149038331G>C | CA361672409 | SH3TC2 | c.855C>G c.965C>G (p.Pro322Arg) c.227C>G (p.Pro76Arg) c.*223C>G (n.*223C>G) n.432C>G c.365C>G (p.Pro122Arg) c.*745C>G (n.*745C>G) c.944C>G (p.Pro315Arg) | gnomAD v4 |
| 5 | g.149038331G>T | CA361672411 | SH3TC2 | c.855C>A c.965C>A (p.Pro322His) c.227C>A (p.Pro76His) c.*223C>A (n.*223C>A) n.432C>A c.365C>A (p.Pro122His) c.*745C>A (n.*745C>A) c.944C>A (p.Pro315His) | |
| 5 | g.149038332G>A | CA361672419 | SH3TC2 | c.854C>T c.964C>T (p.Pro322Ser) c.226C>T (p.Pro76Ser) c.*222C>T (n.*222C>T) n.431C>T c.364C>T (p.Pro122Ser) c.*744C>T (n.*744C>T) c.943C>T (p.Pro315Ser) | ClinVar |
| 5 | g.149038332G>C | CA361672421 | SH3TC2 | c.854C>G c.964C>G (p.Pro322Ala) c.226C>G (p.Pro76Ala) c.*222C>G (n.*222C>G) n.431C>G c.364C>G (p.Pro122Ala) c.*744C>G (n.*744C>G) c.943C>G (p.Pro315Ala) | |
| 5 | g.149038332G>T | CA361672429 | SH3TC2 | c.854C>A c.964C>A (p.Pro322Thr) c.226C>A (p.Pro76Thr) c.*222C>A (n.*222C>A) n.431C>A c.364C>A (p.Pro122Thr) c.*744C>A (n.*744C>A) c.943C>A (p.Pro315Thr) | |
| 5 | g.149038333G>A | CA447109436 | SH3TC2 | c.853C>T c.963C>T (p.Val321=) c.225C>T (p.Val75=) c.*221C>T (n.*221C>T) n.430C>T c.363C>T (p.Val121=) c.*743C>T (n.*743C>T) c.942C>T (p.Val314=) | |
| 5 | g.149038333G>C | CA447109432 | SH3TC2 | c.853C>G c.963C>G (p.Val321=) c.225C>G (p.Val75=) c.*221C>G (n.*221C>G) n.430C>G c.363C>G (p.Val121=) c.*743C>G (n.*743C>G) c.942C>G (p.Val314=) | |
| 5 | g.149038333G>T | CA447109434 | SH3TC2 | c.853C>A c.963C>A (p.Val321=) c.225C>A (p.Val75=) c.*221C>A (n.*221C>A) n.430C>A c.363C>A (p.Val121=) c.*743C>A (n.*743C>A) c.942C>A (p.Val314=) | |
| 5 | g.149038334A>C | CA361672433 | SH3TC2 | c.852T>G c.962T>G (p.Val321Gly) c.224T>G (p.Val75Gly) c.*220T>G (n.*220T>G) n.429T>G c.362T>G (p.Val121Gly) c.*742T>G (n.*742T>G) c.941T>G (p.Val314Gly) | |
| 5 | g.149038334A>G | CA361672436 | SH3TC2 | c.852T>C c.962T>C (p.Val321Ala) c.224T>C (p.Val75Ala) c.*220T>C (n.*220T>C) n.429T>C c.362T>C (p.Val121Ala) c.*742T>C (n.*742T>C) c.941T>C (p.Val314Ala) | gnomAD v4 |
| 5 | g.149038334A>T | CA361672438 | SH3TC2 | c.852T>A c.962T>A (p.Val321Asp) c.224T>A (p.Val75Asp) c.*220T>A (n.*220T>A) n.429T>A c.362T>A (p.Val121Asp) c.*742T>A (n.*742T>A) c.941T>A (p.Val314Asp) | |
| 5 | g.149038335C>A | CA361672441 | SH3TC2 | c.851G>T c.961G>T (p.Val321Phe) c.223G>T (p.Val75Phe) c.*219G>T (n.*219G>T) n.428G>T c.361G>T (p.Val121Phe) c.*741G>T (n.*741G>T) c.940G>T (p.Val314Phe) | |
| 5 | g.149038335C= | CA1590317306 | SH3TC2 | c.851G= c.961G= (p.Val321=) c.223G= (p.Val75=) c.*219G= (n.*219G=) n.428G= c.361G= (p.Val121=) c.*741G= (n.*741G=) c.940G= (p.Val314=) | |
| 5 | g.149038335C>G | CA361672445 | SH3TC2 | c.851G>C c.961G>C (p.Val321Leu) c.223G>C (p.Val75Leu) c.*219G>C (n.*219G>C) n.428G>C c.361G>C (p.Val121Leu) c.*741G>C (n.*741G>C) c.940G>C (p.Val314Leu) | gnomAD v4 |
| 5 | g.149038335C>T | CA361672452 | SH3TC2 | c.851G>A c.961G>A (p.Val321Ile) c.223G>A (p.Val75Ile) c.*219G>A (n.*219G>A) n.428G>A c.361G>A (p.Val121Ile) c.*741G>A (n.*741G>A) c.940G>A (p.Val314Ile) | dbSNP gnomAD v4 |
| 5 | g.149038336A>C | CA361672454 | SH3TC2 | c.850T>G c.960T>G (p.Phe320Leu) c.222T>G (p.Phe74Leu) c.*218T>G (n.*218T>G) n.427T>G c.360T>G (p.Phe120Leu) c.*740T>G (n.*740T>G) c.939T>G (p.Phe313Leu) | |
| 5 | g.149038336A>G | CA447109446 | SH3TC2 | c.850T>C c.960T>C (p.Phe320=) c.222T>C (p.Phe74=) c.*218T>C (n.*218T>C) n.427T>C c.360T>C (p.Phe120=) c.*740T>C (n.*740T>C) c.939T>C (p.Phe313=) | |
| 5 | g.149038336A>T | CA361672456 | SH3TC2 | c.850T>A c.960T>A (p.Phe320Leu) c.222T>A (p.Phe74Leu) c.*218T>A (n.*218T>A) n.427T>A c.360T>A (p.Phe120Leu) c.*740T>A (n.*740T>A) c.939T>A (p.Phe313Leu) | |
| 5 | g.149038337A>C | CA361672457 | SH3TC2 | c.849T>G c.959T>G (p.Phe320Cys) c.221T>G (p.Phe74Cys) c.*217T>G (n.*217T>G) n.426T>G c.359T>G (p.Phe120Cys) c.*739T>G (n.*739T>G) c.938T>G (p.Phe313Cys) | |
| 5 | g.149038337A>G | CA361672458 | SH3TC2 | c.849T>C c.959T>C (p.Phe320Ser) c.221T>C (p.Phe74Ser) c.*217T>C (n.*217T>C) n.426T>C c.359T>C (p.Phe120Ser) c.*739T>C (n.*739T>C) c.938T>C (p.Phe313Ser) | gnomAD v4 |
| 5 | g.149038337A>T | CA361672459 | SH3TC2 | c.849T>A c.959T>A (p.Phe320Tyr) c.221T>A (p.Phe74Tyr) c.*217T>A (n.*217T>A) n.426T>A c.359T>A (p.Phe120Tyr) c.*739T>A (n.*739T>A) c.938T>A (p.Phe313Tyr) | |
| 5 | g.149038338A>C | CA361672462 | SH3TC2 | c.848T>G c.958T>G (p.Phe320Val) c.220T>G (p.Phe74Val) c.*216T>G (n.*216T>G) n.425T>G c.358T>G (p.Phe120Val) c.*738T>G (n.*738T>G) c.937T>G (p.Phe313Val) | |
| 5 | g.149038338A>G | CA361672464 | SH3TC2 | c.848T>C c.958T>C (p.Phe320Leu) c.220T>C (p.Phe74Leu) c.*216T>C (n.*216T>C) n.425T>C c.358T>C (p.Phe120Leu) c.*738T>C (n.*738T>C) c.937T>C (p.Phe313Leu) | |
| 5 | g.149038338A>T | CA361672467 | SH3TC2 | c.848T>A c.958T>A (p.Phe320Ile) c.220T>A (p.Phe74Ile) c.*216T>A (n.*216T>A) n.425T>A c.358T>A (p.Phe120Ile) c.*738T>A (n.*738T>A) c.937T>A (p.Phe313Ile) | |
| 5 | g.149038338_149038339delinsAG | CA1590317307 | SH3TC2 | c.847_848delinsCT c.957_958delinsCT (p.Gly319=) c.219_220delinsCT (p.Gly73=) c.*215_*216delinsCT (n.*215_*216delinsCT) n.424_425delinsCT c.357_358delinsCT (p.Gly119=) c.*737_*738delinsCT (n.*737_*738delinsCT) c.936_937delinsCT (p.Gly312=) | |
| 5 | g.149038339del | CA658657556 | SH3TC2 | c.847del c.957del (p.Phe320LeufsTer7) c.219del (p.Phe74LeufsTer7) c.*215del (n.*215del) n.424del c.357del (p.Phe120LeufsTer7) c.*737del (n.*737del) c.936del (p.Phe313LeufsTer7) | ClinVar dbSNP |
| 5 | g.149038339G>A | CA447109460 | SH3TC2 | c.847C>T c.957C>T (p.Gly319=) c.219C>T (p.Gly73=) c.*215C>T (n.*215C>T) n.424C>T c.357C>T (p.Gly119=) c.*737C>T (n.*737C>T) c.936C>T (p.Gly312=) | |
| 5 | g.149038339G>C | CA447109465 | SH3TC2 | c.847C>G c.957C>G (p.Gly319=) c.219C>G (p.Gly73=) c.*215C>G (n.*215C>G) n.424C>G c.357C>G (p.Gly119=) c.*737C>G (n.*737C>G) c.936C>G (p.Gly312=) | |
| 5 | g.149038339G>T | CA447109467 | SH3TC2 | c.847C>A c.957C>A (p.Gly319=) c.219C>A (p.Gly73=) c.*215C>A (n.*215C>A) n.424C>A c.357C>A (p.Gly119=) c.*737C>A (n.*737C>A) c.936C>A (p.Gly312=) | |
| 5 | g.149038340C>A | CA3499339 | SH3TC2 | c.846G>T c.956G>T (p.Gly319Val) c.218G>T (p.Gly73Val) c.*214G>T (n.*214G>T) n.423G>T c.356G>T (p.Gly119Val) c.*736G>T (n.*736G>T) c.935G>T (p.Gly312Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038340C= | CA1590317308 | SH3TC2 | c.846G= c.956G= (p.Gly319=) c.218G= (p.Gly73=) c.*214G= (n.*214G=) n.423G= c.356G= (p.Gly119=) c.*736G= (n.*736G=) c.935G= (p.Gly312=) | |
| 5 | g.149038340C>G | CA361672491 | SH3TC2 | c.846G>C c.956G>C (p.Gly319Ala) c.218G>C (p.Gly73Ala) c.*214G>C (n.*214G>C) n.423G>C c.356G>C (p.Gly119Ala) c.*736G>C (n.*736G>C) c.935G>C (p.Gly312Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149038340C>T | CA361672493 | SH3TC2 | c.846G>A c.956G>A (p.Gly319Asp) c.218G>A (p.Gly73Asp) c.*214G>A (n.*214G>A) n.423G>A c.356G>A (p.Gly119Asp) c.*736G>A (n.*736G>A) c.935G>A (p.Gly312Asp) | |
| 5 | g.149038341C>A | CA361672498 | SH3TC2 | c.845G>T c.955G>T (p.Gly319Cys) c.217G>T (p.Gly73Cys) c.*213G>T (n.*213G>T) n.422G>T c.355G>T (p.Gly119Cys) c.*735G>T (n.*735G>T) c.934G>T (p.Gly312Cys) | |
| 5 | g.149038341C>G | CA361672502 | SH3TC2 | c.845G>C c.955G>C (p.Gly319Arg) c.217G>C (p.Gly73Arg) c.*213G>C (n.*213G>C) n.422G>C c.355G>C (p.Gly119Arg) c.*735G>C (n.*735G>C) c.934G>C (p.Gly312Arg) | |
| 5 | g.149038341C>T | CA361672503 | SH3TC2 | c.845G>A c.955G>A (p.Gly319Ser) c.217G>A (p.Gly73Ser) c.*213G>A (n.*213G>A) n.422G>A c.355G>A (p.Gly119Ser) c.*735G>A (n.*735G>A) c.934G>A (p.Gly312Ser) | |
| 5 | g.149038342C>A | CA447109488 | SH3TC2 | c.844G>T c.954G>T (p.Val318=) c.216G>T (p.Val72=) c.*212G>T (n.*212G>T) n.421G>T c.354G>T (p.Val118=) c.*734G>T (n.*734G>T) c.933G>T (p.Val311=) | |
| 5 | g.149038342C>G | CA447109490 | SH3TC2 | c.844G>C c.954G>C (p.Val318=) c.216G>C (p.Val72=) c.*212G>C (n.*212G>C) n.421G>C c.354G>C (p.Val118=) c.*734G>C (n.*734G>C) c.933G>C (p.Val311=) | |
| 5 | g.149038342C>T | CA447109491 | SH3TC2 | c.844G>A c.954G>A (p.Val318=) c.216G>A (p.Val72=) c.*212G>A (n.*212G>A) n.421G>A c.354G>A (p.Val118=) c.*734G>A (n.*734G>A) c.933G>A (p.Val311=) | |
| 5 | g.149038343A= | CA1590317309 | SH3TC2 | c.843T= c.953T= (p.Val318=) c.215T= (p.Val72=) c.*211T= (n.*211T=) n.420T= c.353T= (p.Val118=) c.*733T= (n.*733T=) c.932T= (p.Val311=) | |
| 5 | g.149038343A>C | CA3499340 | SH3TC2 | c.843T>G c.953T>G (p.Val318Gly) c.215T>G (p.Val72Gly) c.*211T>G (n.*211T>G) n.420T>G c.353T>G (p.Val118Gly) c.*733T>G (n.*733T>G) c.932T>G (p.Val311Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149038343A>G | CA361672510 | SH3TC2 | c.843T>C c.953T>C (p.Val318Ala) c.215T>C (p.Val72Ala) c.*211T>C (n.*211T>C) n.420T>C c.353T>C (p.Val118Ala) c.*733T>C (n.*733T>C) c.932T>C (p.Val311Ala) | |
| 5 | g.149038343A>T | CA361672508 | SH3TC2 | c.843T>A c.953T>A (p.Val318Glu) c.215T>A (p.Val72Glu) c.*211T>A (n.*211T>A) n.420T>A c.353T>A (p.Val118Glu) c.*733T>A (n.*733T>A) c.932T>A (p.Val311Glu) | |
| 5 | g.149038344C>A | CA361672514 | SH3TC2 | c.842G>T c.952G>T (p.Val318Leu) c.214G>T (p.Val72Leu) c.*210G>T (n.*210G>T) n.419G>T c.352G>T (p.Val118Leu) c.*732G>T (n.*732G>T) c.931G>T (p.Val311Leu) | |
| 5 | g.149038344C>G | CA361672515 | SH3TC2 | c.842G>C c.952G>C (p.Val318Leu) c.214G>C (p.Val72Leu) c.*210G>C (n.*210G>C) n.419G>C c.352G>C (p.Val118Leu) c.*732G>C (n.*732G>C) c.931G>C (p.Val311Leu) | |
| 5 | g.149038344C>T | CA361672516 | SH3TC2 | c.842G>A c.952G>A (p.Val318Met) c.214G>A (p.Val72Met) c.*210G>A (n.*210G>A) n.419G>A c.352G>A (p.Val118Met) c.*732G>A (n.*732G>A) c.931G>A (p.Val311Met) | |
| 5 | g.149038345T>A | CA361672517 | SH3TC2 | c.841A>T c.951A>T (p.Gln317His) c.213A>T (p.Gln71His) c.*209A>T (n.*209A>T) n.418A>T c.351A>T (p.Gln117His) c.*731A>T (n.*731A>T) c.930A>T (p.Gln310His) | |
| 5 | g.149038345T>C | CA447109502 | SH3TC2 | c.841A>G c.951A>G (p.Gln317=) c.213A>G (p.Gln71=) c.*209A>G (n.*209A>G) n.418A>G c.351A>G (p.Gln117=) c.*731A>G (n.*731A>G) c.930A>G (p.Gln310=) | |
| 5 | g.149038345T>G | CA361672519 | SH3TC2 | c.841A>C c.951A>C (p.Gln317His) c.213A>C (p.Gln71His) c.*209A>C (n.*209A>C) n.418A>C c.351A>C (p.Gln117His) c.*731A>C (n.*731A>C) c.930A>C (p.Gln310His) | |
| 5 | g.149038346T>A | CA361672521 | SH3TC2 | c.840A>T c.950A>T (p.Gln317Leu) c.212A>T (p.Gln71Leu) c.*208A>T (n.*208A>T) n.417A>T c.350A>T (p.Gln117Leu) c.*730A>T (n.*730A>T) c.929A>T (p.Gln310Leu) | |
| 5 | g.149038346T>C | CA361672523 | SH3TC2 | c.840A>G c.950A>G (p.Gln317Arg) c.212A>G (p.Gln71Arg) c.*208A>G (n.*208A>G) n.417A>G c.350A>G (p.Gln117Arg) c.*730A>G (n.*730A>G) c.929A>G (p.Gln310Arg) | |
| 5 | g.149038346T>G | CA361672525 | SH3TC2 | c.840A>C c.950A>C (p.Gln317Pro) c.212A>C (p.Gln71Pro) c.*208A>C (n.*208A>C) n.417A>C c.350A>C (p.Gln117Pro) c.*730A>C (n.*730A>C) c.929A>C (p.Gln310Pro) | |
| 5 | g.149038347G>A | CA361672526 | SH3TC2 | c.839C>T c.949C>T (p.Gln317Ter) c.211C>T (p.Gln71Ter) c.*207C>T (n.*207C>T) n.416C>T c.349C>T (p.Gln117Ter) c.*729C>T (n.*729C>T) c.928C>T (p.Gln310Ter) | |
| 5 | g.149038347G>C | CA361672527 | SH3TC2 | c.839C>G c.949C>G (p.Gln317Glu) c.211C>G (p.Gln71Glu) c.*207C>G (n.*207C>G) n.416C>G c.349C>G (p.Gln117Glu) c.*729C>G (n.*729C>G) c.928C>G (p.Gln310Glu) | |
| 5 | g.149038347G>T | CA361672528 | SH3TC2 | c.839C>A c.949C>A (p.Gln317Lys) c.211C>A (p.Gln71Lys) c.*207C>A (n.*207C>A) n.416C>A c.349C>A (p.Gln117Lys) c.*729C>A (n.*729C>A) c.928C>A (p.Gln310Lys) | |
| 5 | g.149038347_149038365delinsGTCCTGAACTTGTCGACTT | CA1590317310 | SH3TC2 | c.821_839delinsAAGTCGACAAGTTCAGGAC c.931_949delinsAAGTCGACAAGTTCAGGAC (p.Lys311=) c.193_211delinsAAGTCGACAAGTTCAGGAC (p.Lys65=) c.*189_*207delinsAAGTCGACAAGTTCAGGAC (n.*189_*207delinsAAGTCGACAAGTTCAGGAC) n.398_416delinsAAGTCGACAAGTTCAGGAC c.331_349delinsAAGTCGACAAGTTCAGGAC (p.Lys111=) c.*711_*729delinsAAGTCGACAAGTTCAGGAC (n.*711_*729delinsAAGTCGACAAGTTCAGGAC) c.910_928delinsAAGTCGACAAGTTCAGGAC (p.Lys304=) | |
| 5 | g.149038348T>A | CA447109514 | SH3TC2 | c.838A>T c.948A>T (p.Gly316=) c.210A>T (p.Gly70=) c.*206A>T (n.*206A>T) n.415A>T c.348A>T (p.Gly116=) c.*728A>T (n.*728A>T) c.927A>T (p.Gly309=) | |
| 5 | g.149038348T>C | CA3499343 | SH3TC2 | c.838A>G c.948A>G (p.Gly316=) c.210A>G (p.Gly70=) c.*206A>G (n.*206A>G) n.415A>G c.348A>G (p.Gly116=) c.*728A>G (n.*728A>G) c.927A>G (p.Gly309=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149038348T>G | CA3499342 | SH3TC2 | c.838A>C c.948A>C (p.Gly316=) c.210A>C (p.Gly70=) c.*206A>C (n.*206A>C) n.415A>C c.348A>C (p.Gly116=) c.*728A>C (n.*728A>C) c.927A>C (p.Gly309=) | dbSNP ExAC gnomAD v2 |
| 5 | g.149038348T= | CA1590317311 | SH3TC2 | c.838A= c.948A= (p.Gly316=) c.210A= (p.Gly70=) c.*206A= (n.*206A=) n.415A= c.348A= (p.Gly116=) c.*728A= (n.*728A=) c.927A= (p.Gly309=) | |
| 5 | g.149038351_149038368del | CA3499341 | SH3TC2 | c.821_838del c.931_948del (p.Lys311_Gly316del) c.193_210del (p.Lys65_Gly70del) c.*189_*206del (n.*189_*206del) n.398_415del c.331_348del (p.Lys111_Gly116del) c.*711_*728del (n.*711_*728del) c.910_927del (p.Lys304_Gly309del) | dbSNP ExAC gnomAD v2 |
| 5 | g.149038349C>A | CA361672538 | SH3TC2 | c.837G>T c.947G>T (p.Gly316Val) c.209G>T (p.Gly70Val) c.*205G>T (n.*205G>T) n.414G>T c.347G>T (p.Gly116Val) c.*727G>T (n.*727G>T) c.926G>T (p.Gly309Val) | |
| 5 | g.149038349C= | CA1590317312 | SH3TC2 | c.837G= c.947G= (p.Gly316=) c.209G= (p.Gly70=) c.*205G= (n.*205G=) n.414G= c.347G= (p.Gly116=) c.*727G= (n.*727G=) c.926G= (p.Gly309=) | |
| 5 | g.149038349C>G | CA361672540 | SH3TC2 | c.837G>C c.947G>C (p.Gly316Ala) c.209G>C (p.Gly70Ala) c.*205G>C (n.*205G>C) n.414G>C c.347G>C (p.Gly116Ala) c.*727G>C (n.*727G>C) c.926G>C (p.Gly309Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149038349C>T | CA361672543 | SH3TC2 | c.837G>A c.947G>A (p.Gly316Glu) c.209G>A (p.Gly70Glu) c.*205G>A (n.*205G>A) n.414G>A c.347G>A (p.Gly116Glu) c.*727G>A (n.*727G>A) c.926G>A (p.Gly309Glu) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149038350C>A | CA361672547 | SH3TC2 | c.836G>T c.946G>T (p.Gly316Ter) c.208G>T (p.Gly70Ter) c.*204G>T (n.*204G>T) n.413G>T c.346G>T (p.Gly116Ter) c.*726G>T (n.*726G>T) c.925G>T (p.Gly309Ter) | |
| 5 | g.149038350C>G | CA361672549 | SH3TC2 | c.836G>C c.946G>C (p.Gly316Arg) c.208G>C (p.Gly70Arg) c.*204G>C (n.*204G>C) n.413G>C c.346G>C (p.Gly116Arg) c.*726G>C (n.*726G>C) c.925G>C (p.Gly309Arg) | |
| 5 | g.149038350C>T | CA361672552 | SH3TC2 | c.836G>A c.946G>A (p.Gly316Arg) c.208G>A (p.Gly70Arg) c.*204G>A (n.*204G>A) n.413G>A c.346G>A (p.Gly116Arg) c.*726G>A (n.*726G>A) c.925G>A (p.Gly309Arg) | |
| 5 | g.149038351T>A | CA447109524 | SH3TC2 | c.835A>T c.945A>T (p.Ser315=) c.207A>T (p.Ser69=) c.*203A>T (n.*203A>T) n.412A>T c.345A>T (p.Ser115=) c.*725A>T (n.*725A>T) c.924A>T (p.Ser308=) | gnomAD v4 |
| 5 | g.149038351T>C | CA3499344 | SH3TC2 | c.835A>G c.945A>G (p.Ser315=) c.207A>G (p.Ser69=) c.*203A>G (n.*203A>G) n.412A>G c.345A>G (p.Ser115=) c.*725A>G (n.*725A>G) c.924A>G (p.Ser308=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038351T>G | CA447109526 | SH3TC2 | c.835A>C c.945A>C (p.Ser315=) c.207A>C (p.Ser69=) c.*203A>C (n.*203A>C) n.412A>C c.345A>C (p.Ser115=) c.*725A>C (n.*725A>C) c.924A>C (p.Ser308=) | |
| 5 | g.149038351T= | CA1590317313 | SH3TC2 | c.835A= c.945A= (p.Ser315=) c.207A= (p.Ser69=) c.*203A= (n.*203A=) n.412A= c.345A= (p.Ser115=) c.*725A= (n.*725A=) c.924A= (p.Ser308=) | |
| 5 | g.149038352G>A | CA361672564 | SH3TC2 | c.834C>T c.944C>T (p.Ser315Leu) c.206C>T (p.Ser69Leu) c.*202C>T (n.*202C>T) n.411C>T c.344C>T (p.Ser115Leu) c.*724C>T (n.*724C>T) c.923C>T (p.Ser308Leu) | |
| 5 | g.149038352G>C | CA361672566 | SH3TC2 | c.834C>G c.944C>G (p.Ser315Ter) c.206C>G (p.Ser69Ter) c.*202C>G (n.*202C>G) n.411C>G c.344C>G (p.Ser115Ter) c.*724C>G (n.*724C>G) c.923C>G (p.Ser308Ter) | |
| 5 | g.149038352G>T | CA361672567 | SH3TC2 | c.834C>A c.944C>A (p.Ser315Ter) c.206C>A (p.Ser69Ter) c.*202C>A (n.*202C>A) n.411C>A c.344C>A (p.Ser115Ter) c.*724C>A (n.*724C>A) c.923C>A (p.Ser308Ter) | |
| 5 | g.149038353A>C | CA361672568 | SH3TC2 | c.833T>G c.943T>G (p.Ser315Ala) c.205T>G (p.Ser69Ala) c.*201T>G (n.*201T>G) n.410T>G c.343T>G (p.Ser115Ala) c.*723T>G (n.*723T>G) c.922T>G (p.Ser308Ala) | |
| 5 | g.149038353A>G | CA361672570 | SH3TC2 | c.833T>C c.943T>C (p.Ser315Pro) c.205T>C (p.Ser69Pro) c.*201T>C (n.*201T>C) n.410T>C c.343T>C (p.Ser115Pro) c.*723T>C (n.*723T>C) c.922T>C (p.Ser308Pro) | |
| 5 | g.149038353A>T | CA361672575 | SH3TC2 | c.833T>A c.943T>A (p.Ser315Thr) c.205T>A (p.Ser69Thr) c.*201T>A (n.*201T>A) n.410T>A c.343T>A (p.Ser115Thr) c.*723T>A (n.*723T>A) c.922T>A (p.Ser308Thr) | |
| 5 | g.149038354A>C | CA361672578 | SH3TC2 | c.832T>G c.942T>G (p.Ser314Arg) c.204T>G (p.Ser68Arg) c.*200T>G (n.*200T>G) n.409T>G c.342T>G (p.Ser114Arg) c.*722T>G (n.*722T>G) c.921T>G (p.Ser307Arg) | |
| 5 | g.149038354A>G | CA447109543 | SH3TC2 | c.832T>C c.942T>C (p.Ser314=) c.204T>C (p.Ser68=) c.*200T>C (n.*200T>C) n.409T>C c.342T>C (p.Ser114=) c.*722T>C (n.*722T>C) c.921T>C (p.Ser307=) | |
| 5 | g.149038354A>T | CA361672581 | SH3TC2 | c.832T>A c.942T>A (p.Ser314Arg) c.204T>A (p.Ser68Arg) c.*200T>A (n.*200T>A) n.409T>A c.342T>A (p.Ser114Arg) c.*722T>A (n.*722T>A) c.921T>A (p.Ser307Arg) | |
| 5 | g.149038355C>A | CA361672585 | SH3TC2 | c.831G>T c.941G>T (p.Ser314Ile) c.203G>T (p.Ser68Ile) c.*199G>T (n.*199G>T) n.408G>T c.341G>T (p.Ser114Ile) c.*721G>T (n.*721G>T) c.920G>T (p.Ser307Ile) | |
| 5 | g.149038355C= | CA1590317314 | SH3TC2 | c.831G= c.941G= (p.Ser314=) c.203G= (p.Ser68=) c.*199G= (n.*199G=) n.408G= c.341G= (p.Ser114=) c.*721G= (n.*721G=) c.920G= (p.Ser307=) | |
| 5 | g.149038355C>G | CA361672590 | SH3TC2 | c.831G>C c.941G>C (p.Ser314Thr) c.203G>C (p.Ser68Thr) c.*199G>C (n.*199G>C) n.408G>C c.341G>C (p.Ser114Thr) c.*721G>C (n.*721G>C) c.920G>C (p.Ser307Thr) | |
| 5 | g.149038355C>T | CA3499345 | SH3TC2 | c.831G>A c.941G>A (p.Ser314Asn) c.203G>A (p.Ser68Asn) c.*199G>A (n.*199G>A) n.408G>A c.341G>A (p.Ser114Asn) c.*721G>A (n.*721G>A) c.920G>A (p.Ser307Asn) | dbSNP ExAC gnomAD v2 |
| 5 | g.149038356T>A | CA361672597 | SH3TC2 | c.830A>T c.940A>T (p.Ser314Cys) c.202A>T (p.Ser68Cys) c.*198A>T (n.*198A>T) n.407A>T c.340A>T (p.Ser114Cys) c.*720A>T (n.*720A>T) c.919A>T (p.Ser307Cys) | |
| 5 | g.149038356T>C | CA361672606 | SH3TC2 | c.830A>G c.940A>G (p.Ser314Gly) c.202A>G (p.Ser68Gly) c.*198A>G (n.*198A>G) n.407A>G c.340A>G (p.Ser114Gly) c.*720A>G (n.*720A>G) c.919A>G (p.Ser307Gly) | |
| 5 | g.149038356T>G | CA361672603 | SH3TC2 | c.830A>C c.940A>C (p.Ser314Arg) c.202A>C (p.Ser68Arg) c.*198A>C (n.*198A>C) n.407A>C c.340A>C (p.Ser114Arg) c.*720A>C (n.*720A>C) c.919A>C (p.Ser307Arg) | |
| 5 | g.149038357T>A | CA447109552 | SH3TC2 | c.829A>T c.939A>T (p.Thr313=) c.201A>T (p.Thr67=) c.*197A>T (n.*197A>T) n.406A>T c.339A>T (p.Thr113=) c.*719A>T (n.*719A>T) c.918A>T (p.Thr306=) | |
| 5 | g.149038357T>C | CA447109554 | SH3TC2 | c.829A>G c.939A>G (p.Thr313=) c.201A>G (p.Thr67=) c.*197A>G (n.*197A>G) n.406A>G c.339A>G (p.Thr113=) c.*719A>G (n.*719A>G) c.918A>G (p.Thr306=) | dbSNP |
| 5 | g.149038357T>G | CA447109556 | SH3TC2 | c.829A>C c.939A>C (p.Thr313=) c.201A>C (p.Thr67=) c.*197A>C (n.*197A>C) n.406A>C c.339A>C (p.Thr113=) c.*719A>C (n.*719A>C) c.918A>C (p.Thr306=) | |
| 5 | g.149038358G>A | CA361672613 | SH3TC2 | c.828C>T c.938C>T (p.Thr313Ile) c.200C>T (p.Thr67Ile) c.*196C>T (n.*196C>T) n.405C>T c.338C>T (p.Thr113Ile) c.*718C>T (n.*718C>T) c.917C>T (p.Thr306Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149038358G>C | CA361672618 | SH3TC2 | c.828C>G c.938C>G (p.Thr313Arg) c.200C>G (p.Thr67Arg) c.*196C>G (n.*196C>G) n.405C>G c.338C>G (p.Thr113Arg) c.*718C>G (n.*718C>G) c.917C>G (p.Thr306Arg) | |
| 5 | g.149038358G= | CA1590317315 | SH3TC2 | c.828C= c.938C= (p.Thr313=) c.200C= (p.Thr67=) c.*196C= (n.*196C=) n.405C= c.338C= (p.Thr113=) c.*718C= (n.*718C=) c.917C= (p.Thr306=) | |
| 5 | g.149038358G>T | CA361672620 | SH3TC2 | c.828C>A c.938C>A (p.Thr313Lys) c.200C>A (p.Thr67Lys) c.*196C>A (n.*196C>A) n.405C>A c.338C>A (p.Thr113Lys) c.*718C>A (n.*718C>A) c.917C>A (p.Thr306Lys) | COSMIC COSMIC |
| 5 | g.149038359T>A | CA361672623 | SH3TC2 | c.827A>T c.937A>T (p.Thr313Ser) c.199A>T (p.Thr67Ser) c.*195A>T (n.*195A>T) n.404A>T c.337A>T (p.Thr113Ser) c.*717A>T (n.*717A>T) c.916A>T (p.Thr306Ser) | |
| 5 | g.149038359T>C | CA361672625 | SH3TC2 | c.827A>G c.937A>G (p.Thr313Ala) c.199A>G (p.Thr67Ala) c.*195A>G (n.*195A>G) n.404A>G c.337A>G (p.Thr113Ala) c.*717A>G (n.*717A>G) c.916A>G (p.Thr306Ala) | |
| 5 | g.149038359T>G | CA361672628 | SH3TC2 | c.827A>C c.937A>C (p.Thr313Pro) c.199A>C (p.Thr67Pro) c.*195A>C (n.*195A>C) n.404A>C c.337A>C (p.Thr113Pro) c.*717A>C (n.*717A>C) c.916A>C (p.Thr306Pro) | |
| 5 | g.149038360C>A | CA447109566 | SH3TC2 | c.826G>T c.936G>T (p.Ser312=) c.198G>T (p.Ser66=) c.*194G>T (n.*194G>T) n.403G>T c.336G>T (p.Ser112=) c.*716G>T (n.*716G>T) c.915G>T (p.Ser305=) | |
| 5 | g.149038360C= | CA1590317316 | SH3TC2 | c.826G= c.936G= (p.Ser312=) c.198G= (p.Ser66=) c.*194G= (n.*194G=) n.403G= c.336G= (p.Ser112=) c.*716G= (n.*716G=) c.915G= (p.Ser305=) | |
| 5 | g.149038360C>G | CA447109568 | SH3TC2 | c.826G>C c.936G>C (p.Ser312=) c.198G>C (p.Ser66=) c.*194G>C (n.*194G>C) n.403G>C c.336G>C (p.Ser112=) c.*716G>C (n.*716G>C) c.915G>C (p.Ser305=) | |
| 5 | g.149038360C>T | CA16604723 | SH3TC2 | c.826G>A c.936G>A (p.Ser312=) c.198G>A (p.Ser66=) c.*194G>A (n.*194G>A) n.403G>A c.336G>A (p.Ser112=) c.*716G>A (n.*716G>A) c.915G>A (p.Ser305=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038361G>A | CA3499346 | SH3TC2 | c.825C>T c.935C>T (p.Ser312Leu) c.197C>T (p.Ser66Leu) c.*193C>T (n.*193C>T) n.402C>T c.335C>T (p.Ser112Leu) c.*715C>T (n.*715C>T) c.914C>T (p.Ser305Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.149038361G>C | CA361672635 | SH3TC2 | c.825C>G c.935C>G (p.Ser312Trp) c.197C>G (p.Ser66Trp) c.*193C>G (n.*193C>G) n.402C>G c.335C>G (p.Ser112Trp) c.*715C>G (n.*715C>G) c.914C>G (p.Ser305Trp) | |
| 5 | g.149038361G= | CA1590317317 | SH3TC2 | c.825C= c.935C= (p.Ser312=) c.197C= (p.Ser66=) c.*193C= (n.*193C=) n.402C= c.335C= (p.Ser112=) c.*715C= (n.*715C=) c.914C= (p.Ser305=) | |
| 5 | g.149038361G>T | CA361672637 | SH3TC2 | c.825C>A c.935C>A (p.Ser312Ter) c.197C>A (p.Ser66Ter) c.*193C>A (n.*193C>A) n.402C>A c.335C>A (p.Ser112Ter) c.*715C>A (n.*715C>A) c.914C>A (p.Ser305Ter) | |
| 5 | g.149038362A>C | CA361672640 | SH3TC2 | c.824T>G c.934T>G (p.Ser312Ala) c.196T>G (p.Ser66Ala) c.*192T>G (n.*192T>G) n.401T>G c.334T>G (p.Ser112Ala) c.*714T>G (n.*714T>G) c.913T>G (p.Ser305Ala) | COSMIC COSMIC |
| 5 | g.149038362A>G | CA361672642 | SH3TC2 | c.824T>C c.934T>C (p.Ser312Pro) c.196T>C (p.Ser66Pro) c.*192T>C (n.*192T>C) n.401T>C c.334T>C (p.Ser112Pro) c.*714T>C (n.*714T>C) c.913T>C (p.Ser305Pro) | |
| 5 | g.149038362A>T | CA361672643 | SH3TC2 | c.824T>A c.934T>A (p.Ser312Thr) c.196T>A (p.Ser66Thr) c.*192T>A (n.*192T>A) n.401T>A c.334T>A (p.Ser112Thr) c.*714T>A (n.*714T>A) c.913T>A (p.Ser305Thr) | |
| 5 | g.149038363C>A | CA361672648 | SH3TC2 | c.823G>T c.933G>T (p.Lys311Asn) c.195G>T (p.Lys65Asn) c.*191G>T (n.*191G>T) n.400G>T c.333G>T (p.Lys111Asn) c.*713G>T (n.*713G>T) c.912G>T (p.Lys304Asn) | |
| 5 | g.149038363C>G | CA361672645 | SH3TC2 | c.823G>C c.933G>C (p.Lys311Asn) c.195G>C (p.Lys65Asn) c.*191G>C (n.*191G>C) n.400G>C c.333G>C (p.Lys111Asn) c.*713G>C (n.*713G>C) c.912G>C (p.Lys304Asn) | |
| 5 | g.149038363C>T | CA447109576 | SH3TC2 | c.823G>A c.933G>A (p.Lys311=) c.195G>A (p.Lys65=) c.*191G>A (n.*191G>A) n.400G>A c.333G>A (p.Lys111=) c.*713G>A (n.*713G>A) c.912G>A (p.Lys304=) | |
| 5 | g.149038364T>A | CA128994901 | SH3TC2 | c.822A>T c.932A>T (p.Lys311Met) c.194A>T (p.Lys65Met) c.*190A>T (n.*190A>T) n.399A>T c.332A>T (p.Lys111Met) c.*712A>T (n.*712A>T) c.911A>T (p.Lys304Met) | dbSNP |
| 5 | g.149038364T>C | CA361672650 | SH3TC2 | c.822A>G c.932A>G (p.Lys311Arg) c.194A>G (p.Lys65Arg) c.*190A>G (n.*190A>G) n.399A>G c.332A>G (p.Lys111Arg) c.*712A>G (n.*712A>G) c.911A>G (p.Lys304Arg) | gnomAD v4 |
| 5 | g.149038364T>G | CA361672651 | SH3TC2 | c.822A>C c.932A>C (p.Lys311Thr) c.194A>C (p.Lys65Thr) c.*190A>C (n.*190A>C) n.399A>C c.332A>C (p.Lys111Thr) c.*712A>C (n.*712A>C) c.911A>C (p.Lys304Thr) | |
| 5 | g.149038364T= | CA1590317318 | SH3TC2 | c.822A= c.932A= (p.Lys311=) c.194A= (p.Lys65=) c.*190A= (n.*190A=) n.399A= c.332A= (p.Lys111=) c.*712A= (n.*712A=) c.911A= (p.Lys304=) | |
| 5 | g.149038365T>A | CA361672652 | SH3TC2 | c.821A>T c.931A>T (p.Lys311Ter) c.193A>T (p.Lys65Ter) c.*189A>T (n.*189A>T) n.398A>T c.331A>T (p.Lys111Ter) c.*711A>T (n.*711A>T) c.910A>T (p.Lys304Ter) | |
| 5 | g.149038365T>C | CA361672653 | SH3TC2 | c.821A>G c.931A>G (p.Lys311Glu) c.193A>G (p.Lys65Glu) c.*189A>G (n.*189A>G) n.398A>G c.331A>G (p.Lys111Glu) c.*711A>G (n.*711A>G) c.910A>G (p.Lys304Glu) | |
| 5 | g.149038365T>G | CA361672654 | SH3TC2 | c.821A>C c.931A>C (p.Lys311Gln) c.193A>C (p.Lys65Gln) c.*189A>C (n.*189A>C) n.398A>C c.331A>C (p.Lys111Gln) c.*711A>C (n.*711A>C) c.910A>C (p.Lys304Gln) | gnomAD v4 |
| 5 | g.149038366T>A | CA447109586 | SH3TC2 | c.820A>T c.930A>T (p.Gly310=) c.192A>T (p.Gly64=) c.*188A>T (n.*188A>T) n.397A>T c.330A>T (p.Gly110=) c.*710A>T (n.*710A>T) c.909A>T (p.Gly303=) | |
| 5 | g.149038366T>C | CA447109588 | SH3TC2 | c.820A>G c.930A>G (p.Gly310=) c.192A>G (p.Gly64=) c.*188A>G (n.*188A>G) n.397A>G c.330A>G (p.Gly110=) c.*710A>G (n.*710A>G) c.909A>G (p.Gly303=) | |
| 5 | g.149038366T>G | CA447109590 | SH3TC2 | c.820A>C c.930A>C (p.Gly310=) c.192A>C (p.Gly64=) c.*188A>C (n.*188A>C) n.397A>C c.330A>C (p.Gly110=) c.*710A>C (n.*710A>C) c.909A>C (p.Gly303=) | |
| 5 | g.149038367C>A | CA361672655 | SH3TC2 | c.819G>T c.929G>T (p.Gly310Val) c.191G>T (p.Gly64Val) c.*187G>T (n.*187G>T) n.396G>T c.329G>T (p.Gly110Val) c.*709G>T (n.*709G>T) c.908G>T (p.Gly303Val) | |
| 5 | g.149038367C= | CA1590317319 | SH3TC2 | c.819G= c.929G= (p.Gly310=) c.191G= (p.Gly64=) c.*187G= (n.*187G=) n.396G= c.329G= (p.Gly110=) c.*709G= (n.*709G=) c.908G= (p.Gly303=) | |
| 5 | g.149038367C>G | CA361672657 | SH3TC2 | c.819G>C c.929G>C (p.Gly310Ala) c.191G>C (p.Gly64Ala) c.*187G>C (n.*187G>C) n.396G>C c.329G>C (p.Gly110Ala) c.*709G>C (n.*709G>C) c.908G>C (p.Gly303Ala) | |
| 5 | g.149038367C>T | CA3499347 | SH3TC2 | c.819G>A c.929G>A (p.Gly310Glu) c.191G>A (p.Gly64Glu) c.*187G>A (n.*187G>A) n.396G>A c.329G>A (p.Gly110Glu) c.*709G>A (n.*709G>A) c.908G>A (p.Gly303Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038368dup | CA2573139255 | SH3TC2 | c.819dup c.929dup (p.Ser312ValfsTer18) c.191dup (p.Ser66ValfsTer18) c.*187dup (n.*187dup) n.396dup c.329dup (p.Ser112ValfsTer18) c.*709dup (n.*709dup) c.908dup (p.Ser305ValfsTer18) | ClinVar dbSNP |
| 5 | g.149038368C>A | CA361672659 | SH3TC2 | c.818G>T c.928G>T (p.Gly310Ter) c.190G>T (p.Gly64Ter) c.*186G>T (n.*186G>T) n.395G>T c.328G>T (p.Gly110Ter) c.*708G>T (n.*708G>T) c.907G>T (p.Gly303Ter) | |
| 5 | g.149038368C>G | CA361672660 | SH3TC2 | c.818G>C c.928G>C (p.Gly310Arg) c.190G>C (p.Gly64Arg) c.*186G>C (n.*186G>C) n.395G>C c.328G>C (p.Gly110Arg) c.*708G>C (n.*708G>C) c.907G>C (p.Gly303Arg) | |
| 5 | g.149038368C>T | CA361672661 | SH3TC2 | c.818G>A c.928G>A (p.Gly310Arg) c.190G>A (p.Gly64Arg) c.*186G>A (n.*186G>A) n.395G>A c.328G>A (p.Gly110Arg) c.*708G>A (n.*708G>A) c.907G>A (p.Gly303Arg) | |
| 5 | g.149038369A>C | CA361672662 | SH3TC2 | c.817T>G c.927T>G (p.Ile309Met) c.189T>G (p.Ile63Met) c.*185T>G (n.*185T>G) n.394T>G c.327T>G (p.Ile109Met) c.*707T>G (n.*707T>G) c.906T>G (p.Ile302Met) | |
| 5 | g.149038369A>G | CA447109600 | SH3TC2 | c.817T>C c.927T>C (p.Ile309=) c.189T>C (p.Ile63=) c.*185T>C (n.*185T>C) n.394T>C c.327T>C (p.Ile109=) c.*707T>C (n.*707T>C) c.906T>C (p.Ile302=) | |
| 5 | g.149038369A>T | CA447109601 | SH3TC2 | c.817T>A c.927T>A (p.Ile309=) c.189T>A (p.Ile63=) c.*185T>A (n.*185T>A) n.394T>A c.327T>A (p.Ile109=) c.*707T>A (n.*707T>A) c.906T>A (p.Ile302=) | |
| 5 | g.149038370A= | CA1590317320 | SH3TC2 | c.816T= c.926T= (p.Ile309=) c.188T= (p.Ile63=) c.*184T= (n.*184T=) n.393T= c.326T= (p.Ile109=) c.*706T= (n.*706T=) c.905T= (p.Ile302=) | |
| 5 | g.149038370A>C | CA361672665 | SH3TC2 | c.816T>G c.926T>G (p.Ile309Ser) c.188T>G (p.Ile63Ser) c.*184T>G (n.*184T>G) n.393T>G c.326T>G (p.Ile109Ser) c.*706T>G (n.*706T>G) c.905T>G (p.Ile302Ser) | |
| 5 | g.149038370A>G | CA361672663 | SH3TC2 | c.816T>C c.926T>C (p.Ile309Thr) c.188T>C (p.Ile63Thr) c.*184T>C (n.*184T>C) n.393T>C c.326T>C (p.Ile109Thr) c.*706T>C (n.*706T>C) c.905T>C (p.Ile302Thr) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149038370A>T | CA361672664 | SH3TC2 | c.816T>A c.926T>A (p.Ile309Asn) c.188T>A (p.Ile63Asn) c.*184T>A (n.*184T>A) n.393T>A c.326T>A (p.Ile109Asn) c.*706T>A (n.*706T>A) c.905T>A (p.Ile302Asn) | |
| 5 | g.149038371T>A | CA361672666 | SH3TC2 | c.815A>T c.925A>T (p.Ile309Phe) c.187A>T (p.Ile63Phe) c.*183A>T (n.*183A>T) n.392A>T c.325A>T (p.Ile109Phe) c.*705A>T (n.*705A>T) c.904A>T (p.Ile302Phe) | |
| 5 | g.149038371T>C | CA128994907 | SH3TC2 | c.815A>G c.925A>G (p.Ile309Val) c.187A>G (p.Ile63Val) c.*183A>G (n.*183A>G) n.392A>G c.325A>G (p.Ile109Val) c.*705A>G (n.*705A>G) c.904A>G (p.Ile302Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149038371T>G | CA361672668 | SH3TC2 | c.815A>C c.925A>C (p.Ile309Leu) c.187A>C (p.Ile63Leu) c.*183A>C (n.*183A>C) n.392A>C c.325A>C (p.Ile109Leu) c.*705A>C (n.*705A>C) c.904A>C (p.Ile302Leu) | |
| 5 | g.149038371T= | CA1590317321 | SH3TC2 | c.815A= c.925A= (p.Ile309=) c.187A= (p.Ile63=) c.*183A= (n.*183A=) n.392A= c.325A= (p.Ile109=) c.*705A= (n.*705A=) c.904A= (p.Ile302=) | |
| 5 | g.149038372G>A | CA447109610 | SH3TC2 | c.814C>T c.924C>T (p.Phe308=) c.186C>T (p.Phe62=) c.*182C>T (n.*182C>T) n.391C>T c.324C>T (p.Phe108=) c.*704C>T (n.*704C>T) c.903C>T (p.Phe301=) | |
| 5 | g.149038372G>C | CA361672671 | SH3TC2 | c.814C>G c.924C>G (p.Phe308Leu) c.186C>G (p.Phe62Leu) c.*182C>G (n.*182C>G) n.391C>G c.324C>G (p.Phe108Leu) c.*704C>G (n.*704C>G) c.903C>G (p.Phe301Leu) | |
| 5 | g.149038372G= | CA1590317322 | SH3TC2 | c.814C= c.924C= (p.Phe308=) c.186C= (p.Phe62=) c.*182C= (n.*182C=) n.391C= c.324C= (p.Phe108=) c.*704C= (n.*704C=) c.903C= (p.Phe301=) | |
| 5 | g.149038372G>T | CA3499348 | SH3TC2 | c.814C>A c.924C>A (p.Phe308Leu) c.186C>A (p.Phe62Leu) c.*182C>A (n.*182C>A) n.391C>A c.324C>A (p.Phe108Leu) c.*704C>A (n.*704C>A) c.903C>A (p.Phe301Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038373A>C | CA361672675 | SH3TC2 | c.813T>G c.923T>G (p.Phe308Cys) c.185T>G (p.Phe62Cys) c.*181T>G (n.*181T>G) n.390T>G c.323T>G (p.Phe108Cys) c.*703T>G (n.*703T>G) c.902T>G (p.Phe301Cys) | |
| 5 | g.149038373A>G | CA361672677 | SH3TC2 | c.813T>C c.923T>C (p.Phe308Ser) c.185T>C (p.Phe62Ser) c.*181T>C (n.*181T>C) n.390T>C c.323T>C (p.Phe108Ser) c.*703T>C (n.*703T>C) c.902T>C (p.Phe301Ser) | |
| 5 | g.149038373A>T | CA361672679 | SH3TC2 | c.813T>A c.923T>A (p.Phe308Tyr) c.185T>A (p.Phe62Tyr) c.*181T>A (n.*181T>A) n.390T>A c.323T>A (p.Phe108Tyr) c.*703T>A (n.*703T>A) c.902T>A (p.Phe301Tyr) | |
| 5 | g.149038374A>C | CA361672681 | SH3TC2 | c.812T>G c.922T>G (p.Phe308Val) c.184T>G (p.Phe62Val) c.*180T>G (n.*180T>G) n.389T>G c.322T>G (p.Phe108Val) c.*702T>G (n.*702T>G) c.901T>G (p.Phe301Val) | |
| 5 | g.149038374A>G | CA361672682 | SH3TC2 | c.812T>C c.922T>C (p.Phe308Leu) c.184T>C (p.Phe62Leu) c.*180T>C (n.*180T>C) n.389T>C c.322T>C (p.Phe108Leu) c.*702T>C (n.*702T>C) c.901T>C (p.Phe301Leu) | |
| 5 | g.149038374A>T | CA361672683 | SH3TC2 | c.812T>A c.922T>A (p.Phe308Ile) c.184T>A (p.Phe62Ile) c.*180T>A (n.*180T>A) n.389T>A c.322T>A (p.Phe108Ile) c.*702T>A (n.*702T>A) c.901T>A (p.Phe301Ile) | |
| 5 | g.149038375C>A | CA361672688 | SH3TC2 | c.811G>T c.921G>T (p.Trp307Cys) c.183G>T (p.Trp61Cys) c.*179G>T (n.*179G>T) n.388G>T c.321G>T (p.Trp107Cys) c.*701G>T (n.*701G>T) c.900G>T (p.Trp300Cys) | gnomAD v4 |
| 5 | g.149038375C>G | CA361672684 | SH3TC2 | c.811G>C c.921G>C (p.Trp307Cys) c.183G>C (p.Trp61Cys) c.*179G>C (n.*179G>C) n.388G>C c.321G>C (p.Trp107Cys) c.*701G>C (n.*701G>C) c.900G>C (p.Trp300Cys) | |
| 5 | g.149038375C>T | CA361672686 | SH3TC2 | c.811G>A c.921G>A (p.Trp307Ter) c.183G>A (p.Trp61Ter) c.*179G>A (n.*179G>A) n.388G>A c.321G>A (p.Trp107Ter) c.*701G>A (n.*701G>A) c.900G>A (p.Trp300Ter) | gnomAD v4 |
| 5 | g.149038376C>A | CA361672691 | SH3TC2 | c.810G>T c.920G>T (p.Trp307Leu) c.182G>T (p.Trp61Leu) c.*178G>T (n.*178G>T) n.387G>T c.320G>T (p.Trp107Leu) c.*700G>T (n.*700G>T) c.899G>T (p.Trp300Leu) | |
| 5 | g.149038376C= | CA1590317323 | SH3TC2 | c.810G= c.920G= (p.Trp307=) c.182G= (p.Trp61=) c.*178G= (n.*178G=) n.387G= c.320G= (p.Trp107=) c.*700G= (n.*700G=) c.899G= (p.Trp300=) | |
| 5 | g.149038376C>G | CA361672693 | SH3TC2 | c.810G>C c.920G>C (p.Trp307Ser) c.182G>C (p.Trp61Ser) c.*178G>C (n.*178G>C) n.387G>C c.320G>C (p.Trp107Ser) c.*700G>C (n.*700G>C) c.899G>C (p.Trp300Ser) | |
| 5 | g.149038376C>T | CA342391 | SH3TC2 | c.810G>A c.920G>A (p.Trp307Ter) c.182G>A (p.Trp61Ter) c.*178G>A (n.*178G>A) n.387G>A c.320G>A (p.Trp107Ter) c.*700G>A (n.*700G>A) c.899G>A (p.Trp300Ter) | ClinVar dbSNP |
| 5 | g.149038377A= | CA1590317324 | SH3TC2 | c.809T= c.919T= (p.Trp307=) c.181T= (p.Trp61=) c.*177T= (n.*177T=) n.386T= c.319T= (p.Trp107=) c.*699T= (n.*699T=) c.898T= (p.Trp300=) | |
| 5 | g.149038377A>C | CA361672696 | SH3TC2 | c.809T>G c.919T>G (p.Trp307Gly) c.181T>G (p.Trp61Gly) c.*177T>G (n.*177T>G) n.386T>G c.319T>G (p.Trp107Gly) c.*699T>G (n.*699T>G) c.898T>G (p.Trp300Gly) | |
| 5 | g.149038377A>G | CA128994923 | SH3TC2 | c.809T>C c.919T>C (p.Trp307Arg) c.181T>C (p.Trp61Arg) c.*177T>C (n.*177T>C) n.386T>C c.319T>C (p.Trp107Arg) c.*699T>C (n.*699T>C) c.898T>C (p.Trp300Arg) | dbSNP |
| 5 | g.149038377A>T | CA361672700 | SH3TC2 | c.809T>A c.919T>A (p.Trp307Arg) c.181T>A (p.Trp61Arg) c.*177T>A (n.*177T>A) n.386T>A c.319T>A (p.Trp107Arg) c.*699T>A (n.*699T>A) c.898T>A (p.Trp300Arg) | |
| 5 | g.149038378C>A | CA361672702 | SH3TC2 | c.808G>T c.918G>T (p.Gln306His) c.180G>T (p.Gln60His) c.*176G>T (n.*176G>T) n.385G>T c.318G>T (p.Gln106His) c.*698G>T (n.*698G>T) c.897G>T (p.Gln299His) | |
| 5 | g.149038378C>G | CA361672703 | SH3TC2 | c.808G>C c.918G>C (p.Gln306His) c.180G>C (p.Gln60His) c.*176G>C (n.*176G>C) n.385G>C c.318G>C (p.Gln106His) c.*698G>C (n.*698G>C) c.897G>C (p.Gln299His) | |
| 5 | g.149038378C>T | CA447109642 | SH3TC2 | c.808G>A c.918G>A (p.Gln306=) c.180G>A (p.Gln60=) c.*176G>A (n.*176G>A) n.385G>A c.318G>A (p.Gln106=) c.*698G>A (n.*698G>A) c.897G>A (p.Gln299=) | gnomAD v4 |
| 5 | g.149038379T>A | CA361672704 | SH3TC2 | c.807A>T c.917A>T (p.Gln306Leu) c.179A>T (p.Gln60Leu) c.*175A>T (n.*175A>T) n.384A>T c.317A>T (p.Gln106Leu) c.*697A>T (n.*697A>T) c.896A>T (p.Gln299Leu) | |
| 5 | g.149038379T>C | CA361672705 | SH3TC2 | c.807A>G c.917A>G (p.Gln306Arg) c.179A>G (p.Gln60Arg) c.*175A>G (n.*175A>G) n.384A>G c.317A>G (p.Gln106Arg) c.*697A>G (n.*697A>G) c.896A>G (p.Gln299Arg) | gnomAD v4 |
| 5 | g.149038379T>G | CA361672706 | SH3TC2 | c.807A>C c.917A>C (p.Gln306Pro) c.179A>C (p.Gln60Pro) c.*175A>C (n.*175A>C) n.384A>C c.317A>C (p.Gln106Pro) c.*697A>C (n.*697A>C) c.896A>C (p.Gln299Pro) | |
| 5 | g.149038380G>A | CA361672714 | SH3TC2 | c.806C>T c.916C>T (p.Gln306Ter) c.178C>T (p.Gln60Ter) c.*174C>T (n.*174C>T) n.383C>T c.316C>T (p.Gln106Ter) c.*696C>T (n.*696C>T) c.895C>T (p.Gln299Ter) | COSMIC COSMIC |
| 5 | g.149038380G>C | CA361672712 | SH3TC2 | c.806C>G c.916C>G (p.Gln306Glu) c.178C>G (p.Gln60Glu) c.*174C>G (n.*174C>G) n.383C>G c.316C>G (p.Gln106Glu) c.*696C>G (n.*696C>G) c.895C>G (p.Gln299Glu) | |
| 5 | g.149038380G>T | CA361672710 | SH3TC2 | c.806C>A c.916C>A (p.Gln306Lys) c.178C>A (p.Gln60Lys) c.*174C>A (n.*174C>A) n.383C>A c.316C>A (p.Gln106Lys) c.*696C>A (n.*696C>A) c.895C>A (p.Gln299Lys) | |
| 5 | g.149038381A>C | CA447109646 | SH3TC2 | c.805T>G c.915T>G (p.Leu305=) c.177T>G (p.Leu59=) c.*173T>G (n.*173T>G) n.382T>G c.315T>G (p.Leu105=) c.*695T>G (n.*695T>G) c.894T>G (p.Leu298=) | |
| 5 | g.149038381A>G | CA447109648 | SH3TC2 | c.805T>C c.915T>C (p.Leu305=) c.177T>C (p.Leu59=) c.*173T>C (n.*173T>C) n.382T>C c.315T>C (p.Leu105=) c.*695T>C (n.*695T>C) c.894T>C (p.Leu298=) | |
| 5 | g.149038381A>T | CA447109656 | SH3TC2 | c.805T>A c.915T>A (p.Leu305=) c.177T>A (p.Leu59=) c.*173T>A (n.*173T>A) n.382T>A c.315T>A (p.Leu105=) c.*695T>A (n.*695T>A) c.894T>A (p.Leu298=) | |
| 5 | g.149038382A= | CA1590317325 | SH3TC2 | c.804T= c.914T= (p.Leu305=) c.176T= (p.Leu59=) c.*172T= (n.*172T=) n.381T= c.314T= (p.Leu105=) c.*694T= (n.*694T=) c.893T= (p.Leu298=) | |
| 5 | g.149038382A>C | CA361672715 | SH3TC2 | c.804T>G c.914T>G (p.Leu305Arg) c.176T>G (p.Leu59Arg) c.*172T>G (n.*172T>G) n.381T>G c.314T>G (p.Leu105Arg) c.*694T>G (n.*694T>G) c.893T>G (p.Leu298Arg) | |
| 5 | g.149038382A>G | CA361672717 | SH3TC2 | c.804T>C c.914T>C (p.Leu305Pro) c.176T>C (p.Leu59Pro) c.*172T>C (n.*172T>C) n.381T>C c.314T>C (p.Leu105Pro) c.*694T>C (n.*694T>C) c.893T>C (p.Leu298Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038382A>T | CA361672716 | SH3TC2 | c.804T>A c.914T>A (p.Leu305His) c.176T>A (p.Leu59His) c.*172T>A (n.*172T>A) n.381T>A c.314T>A (p.Leu105His) c.*694T>A (n.*694T>A) c.893T>A (p.Leu298His) | |
| 5 | g.149038383G>A | CA361672720 | SH3TC2 | c.803C>T c.913C>T (p.Leu305Phe) c.175C>T (p.Leu59Phe) c.*171C>T (n.*171C>T) n.380C>T c.313C>T (p.Leu105Phe) c.*693C>T (n.*693C>T) c.892C>T (p.Leu298Phe) | |
| 5 | g.149038383G>C | CA361672722 | SH3TC2 | c.803C>G c.913C>G (p.Leu305Val) c.175C>G (p.Leu59Val) c.*171C>G (n.*171C>G) n.380C>G c.313C>G (p.Leu105Val) c.*693C>G (n.*693C>G) c.892C>G (p.Leu298Val) | |
| 5 | g.149038383G>T | CA361672724 | SH3TC2 | c.803C>A c.913C>A (p.Leu305Ile) c.175C>A (p.Leu59Ile) c.*171C>A (n.*171C>A) n.380C>A c.313C>A (p.Leu105Ile) c.*693C>A (n.*693C>A) c.892C>A (p.Leu298Ile) | |
| 5 | g.149038384C>A | CA447109666 | SH3TC2 | c.802G>T c.912G>T (p.Gly304=) c.174G>T (p.Gly58=) c.*170G>T (n.*170G>T) n.379G>T c.312G>T (p.Gly104=) c.*692G>T (n.*692G>T) c.891G>T (p.Gly297=) | |
| 5 | g.149038384C= | CA1590317326 | SH3TC2 | c.802G= c.912G= (p.Gly304=) c.174G= (p.Gly58=) c.*170G= (n.*170G=) n.379G= c.312G= (p.Gly104=) c.*692G= (n.*692G=) c.891G= (p.Gly297=) | |
| 5 | g.149038384C>G | CA3499349 | SH3TC2 | c.802G>C c.912G>C (p.Gly304=) c.174G>C (p.Gly58=) c.*170G>C (n.*170G>C) n.379G>C c.312G>C (p.Gly104=) c.*692G>C (n.*692G>C) c.891G>C (p.Gly297=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149038384C>T | CA447109668 | SH3TC2 | c.802G>A c.912G>A (p.Gly304=) c.174G>A (p.Gly58=) c.*170G>A (n.*170G>A) n.379G>A c.312G>A (p.Gly104=) c.*692G>A (n.*692G>A) c.891G>A (p.Gly297=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149038385C>A | CA361672729 | SH3TC2 | c.801G>T c.911G>T (p.Gly304Val) c.173G>T (p.Gly58Val) c.*169G>T (n.*169G>T) n.378G>T c.311G>T (p.Gly104Val) c.*691G>T (n.*691G>T) c.890G>T (p.Gly297Val) | |
| 5 | g.149038385C>G | CA361672730 | SH3TC2 | c.801G>C c.911G>C (p.Gly304Ala) c.173G>C (p.Gly58Ala) c.*169G>C (n.*169G>C) n.378G>C c.311G>C (p.Gly104Ala) c.*691G>C (n.*691G>C) c.890G>C (p.Gly297Ala) | |
| 5 | g.149038385C>T | CA361672731 | SH3TC2 | c.801G>A c.911G>A (p.Gly304Glu) c.173G>A (p.Gly58Glu) c.*169G>A (n.*169G>A) n.378G>A c.311G>A (p.Gly104Glu) c.*691G>A (n.*691G>A) c.890G>A (p.Gly297Glu) | |
| 5 | g.149038386C>A | CA361672733 | SH3TC2 | c.800G>T c.910G>T (p.Gly304Trp) c.172G>T (p.Gly58Trp) c.*168G>T (n.*168G>T) n.377G>T c.310G>T (p.Gly104Trp) c.*690G>T (n.*690G>T) c.889G>T (p.Gly297Trp) | |
| 5 | g.149038386C= | CA1590317327 | SH3TC2 | c.800G= c.910G= (p.Gly304=) c.172G= (p.Gly58=) c.*168G= (n.*168G=) n.377G= c.310G= (p.Gly104=) c.*690G= (n.*690G=) c.889G= (p.Gly297=) | |
| 5 | g.149038386C>G | CA361672735 | SH3TC2 | c.800G>C c.910G>C (p.Gly304Arg) c.172G>C (p.Gly58Arg) c.*168G>C (n.*168G>C) n.377G>C c.310G>C (p.Gly104Arg) c.*690G>C (n.*690G>C) c.889G>C (p.Gly297Arg) | |
| 5 | g.149038386C>T | CA361672737 | SH3TC2 | c.800G>A c.910G>A (p.Gly304Arg) c.172G>A (p.Gly58Arg) c.*168G>A (n.*168G>A) n.377G>A c.310G>A (p.Gly104Arg) c.*690G>A (n.*690G>A) c.889G>A (p.Gly297Arg) | ClinVar dbSNP gnomAD v4 |