Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.112453170_112453171delinsCT | CA2063743218 | PTPN11 | c.333-25_333-24delinsCT (n.333-25_333-24delinsCT) c.330-25_330-24delinsCT (n.330-25_330-24delinsCT) | |
12 | g.112453171T>G | CA2621022249 | PTPN11 | c.333-24T>G (n.333-24T>G) c.330-24T>G (n.330-24T>G) | gnomAD v4 |
12 | g.112453176del | CA6798544 | PTPN11 | c.333-19del (n.333-19del) c.330-19del (n.330-19del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112453175T>C | CA2621022252 | PTPN11 | c.333-20T>C (n.333-20T>C) c.330-20T>C (n.330-20T>C) | gnomAD v4 |
12 | g.112453177A= | CA2063743220 | PTPN11 | c.333-18A= (n.333-18A=) c.330-18A= (n.330-18A=) | |
12 | g.112453177A>T | CA2063743219 | PTPN11 | c.333-18A>T (n.333-18A>T) c.330-18A>T (n.330-18A>T) | ClinVar dbSNP gnomAD v4 |
12 | g.112453177_112453178delinsAT | CA2063743221 | PTPN11 | c.333-18_333-17delinsAT (n.333-18_333-17delinsAT) c.330-18_330-17delinsAT (n.330-18_330-17delinsAT) | |
12 | g.112453183del | CA919176263 | PTPN11 | c.333-12del (n.333-12del) c.330-12del (n.330-12del) | dbSNP |
12 | g.112453183T>A | CA243708209 | PTPN11 | c.333-12T>A (n.333-12T>A) c.330-12T>A (n.330-12T>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.112453183T>C | CA2621022257 | PTPN11 | c.333-12T>C (n.333-12T>C) c.330-12T>C (n.330-12T>C) | gnomAD v4 |
12 | g.112453183T= | CA2063743224 | PTPN11 | c.333-12T= (n.333-12T=) c.330-12T= (n.330-12T=) | |
12 | g.112453183_112453184delinsTA | CA2063743226 | PTPN11 | c.333-12_333-11delinsTA (n.333-12_333-11delinsTA) c.330-12_330-11delinsTA (n.330-12_330-11delinsTA) | |
12 | g.112453184A= | CA2063743233 | PTPN11 | c.333-11A= (n.333-11A=) c.330-11A= (n.330-11A=) | |
12 | g.112453184A>G | CA607604947 | PTPN11 | c.333-11A>G (n.333-11A>G) c.330-11A>G (n.330-11A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112453184A>T | CA2575298833 | PTPN11 | c.333-11A>T (n.333-11A>T) c.330-11A>T (n.330-11A>T) | dbSNP |
12 | g.112453188del | CA221953 | PTPN11 | c.333-7del (n.333-7del) c.330-7del (n.330-7del) | dbSNP |
12 | g.112453185A>T | CA2727218311 | PTPN11 | c.333-10A>T (n.333-10A>T) c.330-10A>T (n.330-10A>T) | dbSNP |
12 | g.112453186A>T | CA2727218313 | PTPN11 | c.333-9A>T (n.333-9A>T) c.330-9A>T (n.330-9A>T) | dbSNP |
12 | g.112453189C>T | CA2727218320 | PTPN11 | c.333-6C>T (n.333-6C>T) c.330-6C>T (n.330-6C>T) | dbSNP |
12 | g.112453189_112453190delinsCT | CA2063743235 | PTPN11 | c.333-6_333-5delinsCT (n.333-6_333-5delinsCT) c.330-6_330-5delinsCT (n.330-6_330-5delinsCT) | |
12 | g.112453192del | CA6798545 | PTPN11 | c.333-3del (n.333-3del) c.330-3del (n.330-3del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112453191T>C | CA658797954 | PTPN11 | c.333-4T>C (n.333-4T>C) c.330-4T>C (n.330-4T>C) | ClinVar dbSNP gnomAD v4 |
12 | g.112453191T= | CA2063743240 | PTPN11 | c.333-4T= (n.333-4T=) c.330-4T= (n.330-4T=) | |
12 | g.112453192T>A | CA607604948 | PTPN11 | c.333-3T>A (n.333-3T>A) c.330-3T>A (n.330-3T>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.112453192T>C | CA282088 | PTPN11 | c.333-3T>C (n.333-3T>C) c.330-3T>C (n.330-3T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112453192T= | CA2063743254 | PTPN11 | c.333-3T= (n.333-3T=) c.330-3T= (n.330-3T=) | |
12 | g.112453193A>C | CA386780357 | PTPN11 | c.333-2A>C (n.333-2A>C) c.330-2A>C (n.330-2A>C) | |
12 | g.112453193A>G | CA386780360 | PTPN11 | c.333-2A>G (n.333-2A>G) c.330-2A>G (n.330-2A>G) | |
12 | g.112453193A>T | CA386780361 | PTPN11 | c.333-2A>T (n.333-2A>T) c.330-2A>T (n.330-2A>T) | dbSNP |
12 | g.112453194G>A | CA386780369 | PTPN11 | c.333-1G>A (n.333-1G>A) c.330-1G>A (n.330-1G>A) | |
12 | g.112453194G>C | CA386780366 | PTPN11 | c.333-1G>C (n.333-1G>C) c.330-1G>C (n.330-1G>C) | |
12 | g.112453194G>T | CA386780363 | PTPN11 | c.333-1G>T (n.333-1G>T) c.330-1G>T (n.330-1G>T) | dbSNP |
12 | g.112453195G>A | CA481882269 | PTPN11 | c.333G>A (p.Arg111=) c.330G>A (p.Arg110=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.112453195G>C | CA386780373 | PTPN11 | c.333G>C (p.Arg111Ser) c.330G>C (p.Arg110Ser) | dbSNP |
12 | g.112453195G= | CA2063743261 | PTPN11 | c.333G= (p.Arg111=) c.330G= (p.Arg110=) | |
12 | g.112453195G>T | CA386780375 | PTPN11 | c.333G>T (p.Arg111Ser) c.330G>T (p.Arg110Ser) | dbSNP |
12 | g.112453196T>A | CA386780382 | PTPN11 | c.334T>A (p.Trp112Arg) c.331T>A (p.Trp111Arg) | |
12 | g.112453196T>C | CA386780385 | PTPN11 | c.334T>C (p.Trp112Arg) c.331T>C (p.Trp111Arg) | |
12 | g.112453196T>G | CA386780386 | PTPN11 | c.334T>G (p.Trp112Gly) c.331T>G (p.Trp111Gly) | |
12 | g.112453197G>A | CA386780387 | PTPN11 | c.335G>A (p.Trp112Ter) c.332G>A (p.Trp111Ter) | dbSNP |
12 | g.112453197G>C | CA386780390 | PTPN11 | c.335G>C (p.Trp112Ser) c.332G>C (p.Trp111Ser) | |
12 | g.112453197G>T | CA386780392 | PTPN11 | c.335G>T (p.Trp112Leu) c.332G>T (p.Trp111Leu) | |
12 | g.112453198del | CA2727218333 | PTPN11 | c.336del (p.Trp112CysfsTer15) c.333del (p.Trp111CysfsTer15) | dbSNP |
12 | g.112453198G>A | CA386780395 | PTPN11 | c.336G>A (p.Trp112Ter) c.333G>A (p.Trp111Ter) | |
12 | g.112453198G>C | CA386780396 | PTPN11 | c.336G>C (p.Trp112Cys) c.333G>C (p.Trp111Cys) | |
12 | g.112453198G>T | CA386780397 | PTPN11 | c.336G>T (p.Trp112Cys) c.333G>T (p.Trp111Cys) | dbSNP |
12 | g.112453199T>A | CA386780399 | PTPN11 | c.337T>A (p.Phe113Ile) c.334T>A (p.Phe112Ile) | |
12 | g.112453199T>C | CA386780407 | PTPN11 | c.337T>C (p.Phe113Leu) c.334T>C (p.Phe112Leu) | |
12 | g.112453199T>G | CA386780409 | PTPN11 | c.337T>G (p.Phe113Val) c.334T>G (p.Phe112Val) | |
12 | g.112453200T>A | CA386780415 | PTPN11 | c.338T>A (p.Phe113Tyr) c.335T>A (p.Phe112Tyr) |