| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.112453128G>T | CA2621022194 | PTPN11 | c.333-67G>T (n.333-67G>T) c.330-67G>T (n.330-67G>T) | gnomAD v4 |
| 12 | g.112453130T>G | CA2575298825 | PTPN11 | c.333-65T>G (n.333-65T>G) c.330-65T>G (n.330-65T>G) | |
| 12 | g.112453131T>C | CA2621022195 | PTPN11 | c.333-64T>C (n.333-64T>C) c.330-64T>C (n.330-64T>C) | gnomAD v4 |
| 12 | g.112453133G>A | CA951925308 | PTPN11 | c.333-62G>A (n.333-62G>A) c.330-62G>A (n.330-62G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.112453133G= | CA2063743146 | PTPN11 | c.333-62G= (n.333-62G=) c.330-62G= (n.330-62G=) | |
| 12 | g.112453133G>T | CA2621022198 | PTPN11 | c.333-62G>T (n.333-62G>T) c.330-62G>T (n.330-62G>T) | gnomAD v4 |
| 12 | g.112453134T>G | CA683655466 | PTPN11 | c.333-61T>G (n.333-61T>G) c.330-61T>G (n.330-61T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.112453134T= | CA2063743149 | PTPN11 | c.333-61T= (n.333-61T=) c.330-61T= (n.330-61T=) | |
| 12 | g.112453135G>A | CA951925309 | PTPN11 | c.333-60G>A (n.333-60G>A) c.330-60G>A (n.330-60G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.112453135G= | CA2063743152 | PTPN11 | c.333-60G= (n.333-60G=) c.330-60G= (n.330-60G=) | |
| 12 | g.112453135G>T | CA2621022201 | PTPN11 | c.333-60G>T (n.333-60G>T) c.330-60G>T (n.330-60G>T) | gnomAD v4 |
| 12 | g.112453137A>G | CA2575298827 | PTPN11 | c.333-58A>G (n.333-58A>G) c.330-58A>G (n.330-58A>G) | |
| 12 | g.112453139G>T | CA2621022203 | PTPN11 | c.333-56G>T (n.333-56G>T) c.330-56G>T (n.330-56G>T) | gnomAD v4 |
| 12 | g.112453142C>A | CA2621022204 | PTPN11 | c.333-53C>A (n.333-53C>A) c.330-53C>A (n.330-53C>A) | gnomAD v4 |
| 12 | g.112453143A>G | CA2621022205 | PTPN11 | c.333-52A>G (n.333-52A>G) c.330-52A>G (n.330-52A>G) | gnomAD v4 |
| 12 | g.112453144A>G | CA2621022208 | PTPN11 | c.333-51A>G (n.333-51A>G) c.330-51A>G (n.330-51A>G) | gnomAD v4 |
| 12 | g.112453145C= | CA2063743156 | PTPN11 | c.333-50C= (n.333-50C=) c.330-50C= (n.330-50C=) | |
| 12 | g.112453145C>T | CA607604941 | PTPN11 | c.333-50C>T (n.333-50C>T) c.330-50C>T (n.330-50C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112453146A= | CA2063743163 | PTPN11 | c.333-49A= (n.333-49A=) c.330-49A= (n.330-49A=) | |
| 12 | g.112453146A>G | CA2063743165 | PTPN11 | c.333-49A>G (n.333-49A>G) c.330-49A>G (n.330-49A>G) | dbSNP gnomAD v4 |
| 12 | g.112453146A>T | CA6798540 | PTPN11 | c.333-49A>T (n.333-49A>T) c.330-49A>T (n.330-49A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112453148G>T | CA2621022213 | PTPN11 | c.333-47G>T (n.333-47G>T) c.330-47G>T (n.330-47G>T) | gnomAD v4 |
| 12 | g.112453150A= | CA2063743168 | PTPN11 | c.333-45A= (n.333-45A=) c.330-45A= (n.330-45A=) | |
| 12 | g.112453150A>T | CA243708206 | PTPN11 | c.333-45A>T (n.333-45A>T) c.330-45A>T (n.330-45A>T) | dbSNP gnomAD v4 |
| 12 | g.112453151C>A | CA243708207 | PTPN11 | c.333-44C>A (n.333-44C>A) c.330-44C>A (n.330-44C>A) | dbSNP gnomAD v4 |
| 12 | g.112453151C= | CA2063743172 | PTPN11 | c.333-44C= (n.333-44C=) c.330-44C= (n.330-44C=) | |
| 12 | g.112453151C>T | CA6798541 | PTPN11 | c.333-44C>T (n.333-44C>T) c.330-44C>T (n.330-44C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112453152C= | CA2063743177 | PTPN11 | c.333-43C= (n.333-43C=) c.330-43C= (n.330-43C=) | |
| 12 | g.112453152C>T | CA6798542 | PTPN11 | c.333-43C>T (n.333-43C>T) c.330-43C>T (n.330-43C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112453153C>A | CA607604942 | PTPN11 | c.333-42C>A (n.333-42C>A) c.330-42C>A (n.330-42C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112453153C= | CA2063743182 | PTPN11 | c.333-42C= (n.333-42C=) c.330-42C= (n.330-42C=) | |
| 12 | g.112453153C>T | CA607604943 | PTPN11 | c.333-42C>T (n.333-42C>T) c.330-42C>T (n.330-42C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112453154A= | CA2063743189 | PTPN11 | c.333-41A= (n.333-41A=) c.330-41A= (n.330-41A=) | |
| 12 | g.112453154A>C | CA2621022221 | PTPN11 | c.333-41A>C (n.333-41A>C) c.330-41A>C (n.330-41A>C) | gnomAD v4 |
| 12 | g.112453154A>G | CA6798543 | PTPN11 | c.333-41A>G (n.333-41A>G) c.330-41A>G (n.330-41A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112453155T>C | CA607604944 | PTPN11 | c.333-40T>C (n.333-40T>C) c.330-40T>C (n.330-40T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112453155T= | CA2063743192 | PTPN11 | c.333-40T= (n.333-40T=) c.330-40T= (n.330-40T=) | |
| 12 | g.112453156A= | CA2063743195 | PTPN11 | c.333-39A= (n.333-39A=) c.330-39A= (n.330-39A=) | |
| 12 | g.112453156A>G | CA607604945 | PTPN11 | c.333-39A>G (n.333-39A>G) c.330-39A>G (n.330-39A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112453157G>A | CA2621022228 | PTPN11 | c.333-38G>A (n.333-38G>A) c.330-38G>A (n.330-38G>A) | gnomAD v4 |
| 12 | g.112453157G>T | CA2621022229 | PTPN11 | c.333-38G>T (n.333-38G>T) c.330-38G>T (n.330-38G>T) | gnomAD v4 |
| 12 | g.112453158T>C | CA2621022234 | PTPN11 | c.333-37T>C (n.333-37T>C) c.330-37T>C (n.330-37T>C) | gnomAD v4 |
| 12 | g.112453160_112453165del | CA2621022231 | PTPN11 | c.333-35_333-30del (n.333-35_333-30del) c.330-35_330-30del (n.330-35_330-30del) | gnomAD v4 |
| 12 | g.112453159A>T | CA2575298828 | PTPN11 | c.333-36A>T (n.333-36A>T) c.330-36A>T (n.330-36A>T) | |
| 12 | g.112453160G>C | CA2621022235 | PTPN11 | c.333-35G>C (n.333-35G>C) c.330-35G>C (n.330-35G>C) | gnomAD v4 |
| 12 | g.112453160G>T | CA2621022237 | PTPN11 | c.333-35G>T (n.333-35G>T) c.330-35G>T (n.330-35G>T) | gnomAD v4 |
| 12 | g.112453161A>G | CA2621022238 | PTPN11 | c.333-34A>G (n.333-34A>G) c.330-34A>G (n.330-34A>G) | gnomAD v4 |
| 12 | g.112453162G>A | CA2621022239 | PTPN11 | c.333-33G>A (n.333-33G>A) c.330-33G>A (n.330-33G>A) | gnomAD v4 |
| 12 | g.112453162G>T | CA2621022240 | PTPN11 | c.333-33G>T (n.333-33G>T) c.330-33G>T (n.330-33G>T) | gnomAD v4 |
| 12 | g.112453163C= | CA2063743198 | PTPN11 | c.333-32C= (n.333-32C=) c.330-32C= (n.330-32C=) | |
| 12 | g.112453163C>T | CA683655473 | PTPN11 | c.333-32C>T (n.333-32C>T) c.330-32C>T (n.330-32C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.112453164T>C | CA2575298829 | PTPN11 | c.333-31T>C (n.333-31T>C) c.330-31T>C (n.330-31T>C) | gnomAD v4 |
| 12 | g.112453165A>G | CA2621022242 | PTPN11 | c.333-30A>G (n.333-30A>G) c.330-30A>G (n.330-30A>G) | gnomAD v4 |
| 12 | g.112453167A= | CA2063743202 | PTPN11 | c.333-28A= (n.333-28A=) c.330-28A= (n.330-28A=) | |
| 12 | g.112453167A>T | CA243708208 | PTPN11 | c.333-28A>T (n.333-28A>T) c.330-28A>T (n.330-28A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.112453168T>C | CA2063743209 | PTPN11 | c.333-27T>C (n.333-27T>C) c.330-27T>C (n.330-27T>C) | dbSNP gnomAD v4 |
| 12 | g.112453168T= | CA2063743207 | PTPN11 | c.333-27T= (n.333-27T=) c.330-27T= (n.330-27T=) | |
| 12 | g.112453169T>A | CA607604946 | PTPN11 | c.333-26T>A (n.333-26T>A) c.330-26T>A (n.330-26T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112453169T= | CA2063743213 | PTPN11 | c.333-26T= (n.333-26T=) c.330-26T= (n.330-26T=) | |
| 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) | ClinVar 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) | |
| 12 | g.112453200T>C | CA386780417 | PTPN11 | c.338T>C (p.Phe113Ser) c.335T>C (p.Phe112Ser) | dbSNP |
| 12 | g.112453200T>G | CA386780412 | PTPN11 | c.338T>G (p.Phe113Cys) c.335T>G (p.Phe112Cys) | |
| 12 | g.112453201T>A | CA386780418 | PTPN11 | c.339T>A (p.Phe113Leu) c.336T>A (p.Phe112Leu) | |
| 12 | g.112453201T>C | CA481882292 | PTPN11 | c.339T>C (p.Phe113=) c.336T>C (p.Phe112=) | |
| 12 | g.112453201T>G | CA386780419 | PTPN11 | c.339T>G (p.Phe113Leu) c.336T>G (p.Phe112Leu) | |
| 12 | g.112453202C>A | CA386780423 | PTPN11 | c.340C>A (p.His114Asn) c.337C>A (p.His113Asn) | |
| 12 | g.112453202C>G | CA386780437 | PTPN11 | c.340C>G (p.His114Asp) c.337C>G (p.His113Asp) | |
| 12 | g.112453202C>T | CA386780440 | PTPN11 | c.340C>T (p.His114Tyr) c.337C>T (p.His113Tyr) | dbSNP COSMIC |
| 12 | g.112453203A>C | CA386780443 | PTPN11 | c.341A>C (p.His114Pro) c.338A>C (p.His113Pro) | |
| 12 | g.112453203A>G | CA386780452 | PTPN11 | c.341A>G (p.His114Arg) c.338A>G (p.His113Arg) | dbSNP |
| 12 | g.112453203A>T | CA386780455 | PTPN11 | c.341A>T (p.His114Leu) c.338A>T (p.His113Leu) | dbSNP |
| 12 | g.112453204T>A | CA386780458 | PTPN11 | c.342T>A (p.His114Gln) c.339T>A (p.His113Gln) | |
| 12 | g.112453204T>C | CA481882304 | PTPN11 | c.342T>C (p.His114=) c.339T>C (p.His113=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.112453204T>G | CA386780463 | PTPN11 | c.342T>G (p.His114Gln) c.339T>G (p.His113Gln) | |
| 12 | g.112453204T= | CA2063743268 | PTPN11 | c.342T= (p.His114=) c.339T= (p.His113=) | |
| 12 | g.112453205G>A | CA386780468 | PTPN11 | c.343G>A (p.Gly115Arg) c.340G>A (p.Gly114Arg) | dbSNP |
| 12 | g.112453205G>C | CA386780469 | PTPN11 | c.343G>C (p.Gly115Arg) c.340G>C (p.Gly114Arg) | |
| 12 | g.112453205G= | CA2063743274 | PTPN11 | c.343G= (p.Gly115=) c.340G= (p.Gly114=) | |
| 12 | g.112453205G>T | CA386780473 | PTPN11 | c.343G>T (p.Gly115Ter) c.340G>T (p.Gly114Ter) | dbSNP |
| 12 | g.112453206del | CA2727218442 | PTPN11 | c.344del (p.Gly115AspfsTer12) c.341del (p.Gly114AspfsTer12) | dbSNP |
| 12 | g.112453206G>A | CA386780485 | PTPN11 | c.344G>A (p.Gly115Glu) c.341G>A (p.Gly114Glu) | |
| 12 | g.112453206G>C | CA386780476 | PTPN11 | c.344G>C (p.Gly115Ala) c.341G>C (p.Gly114Ala) | dbSNP |
| 12 | g.112453206G>T | CA386780481 | PTPN11 | c.344G>T (p.Gly115Val) c.341G>T (p.Gly114Val) | dbSNP |
| 12 | g.112453207A>C | CA481882311 | PTPN11 | c.345A>C (p.Gly115=) c.342A>C (p.Gly114=) | |
| 12 | g.112453207A>G | CA481882312 | PTPN11 | c.345A>G (p.Gly115=) c.342A>G (p.Gly114=) | |
| 12 | g.112453207A>T | CA481882313 | PTPN11 | c.345A>T (p.Gly115=) c.342A>T (p.Gly114=) | dbSNP |
| 12 | g.112453208C>A | CA386780489 | PTPN11 | c.346C>A (p.His116Asn) c.343C>A (p.His115Asn) | ClinVar dbSNP |
| 12 | g.112453208C= | CA2063743280 | PTPN11 | c.346C= (p.His116=) c.343C= (p.His115=) | |
| 12 | g.112453208C>G | CA386780493 | PTPN11 | c.346C>G (p.His116Asp) c.343C>G (p.His115Asp) | |
| 12 | g.112453208C>T | CA243708210 | PTPN11 | c.346C>T (p.His116Tyr) c.343C>T (p.His115Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.112453209A>C | CA386780500 | PTPN11 | c.347A>C (p.His116Pro) c.344A>C (p.His115Pro) | |
| 12 | g.112453209A>G | CA386780505 | PTPN11 | c.347A>G (p.His116Arg) c.344A>G (p.His115Arg) | |
| 12 | g.112453209A>T | CA386780508 | PTPN11 | c.347A>T (p.His116Leu) c.344A>T (p.His115Leu) | |
| 12 | g.112453209_112453211delinsATC | CA2063743286 | PTPN11 | c.347_349delinsATC (p.His116=) c.344_346delinsATC (p.His115=) | |
| 12 | g.112453210T>A | CA386780510 | PTPN11 | c.348T>A (p.His116Gln) c.345T>A (p.His115Gln) | ClinVar dbSNP gnomAD v4 |
| 12 | g.112453210T>C | CA481882321 | PTPN11 | c.348T>C (p.His116=) c.345T>C (p.His115=) | dbSNP |
| 12 | g.112453210T>G | CA386780511 | PTPN11 | c.348T>G (p.His116Gln) c.345T>G (p.His115Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112453210T= | CA2063743303 | PTPN11 | c.348T= (p.His116=) c.345T= (p.His115=) | |
| 12 | g.112453215_112453216del | CA129799 | PTPN11 | c.353_354del (p.Ser118TrpfsTer10) c.350_351del (p.Ser117TrpfsTer10) | ClinVar dbSNP |
| 12 | g.112453211C>A | CA386780524 | PTPN11 | c.349C>A (p.Leu117Ile) c.346C>A (p.Leu116Ile) | |
| 12 | g.112453211C>G | CA386780527 | PTPN11 | c.349C>G (p.Leu117Val) c.346C>G (p.Leu116Val) | |
| 12 | g.112453211C>T | CA386780528 | PTPN11 | c.349C>T (p.Leu117Phe) c.346C>T (p.Leu116Phe) | COSMIC |
| 12 | g.112453212T>A | CA386780531 | PTPN11 | c.350T>A (p.Leu117His) c.347T>A (p.Leu116His) | |
| 12 | g.112453212T>C | CA386780535 | PTPN11 | c.350T>C (p.Leu117Pro) c.347T>C (p.Leu116Pro) | |
| 12 | g.112453212T>G | CA386780536 | PTPN11 | c.350T>G (p.Leu117Arg) c.347T>G (p.Leu116Arg) | |
| 12 | g.112453213C>A | CA481882334 | PTPN11 | c.351C>A (p.Leu117=) c.348C>A (p.Leu116=) | dbSNP |
| 12 | g.112453213C>G | CA481882335 | PTPN11 | c.351C>G (p.Leu117=) c.348C>G (p.Leu116=) | ClinVar gnomAD v4 |
| 12 | g.112453213C>T | CA481882337 | PTPN11 | c.351C>T (p.Leu117=) c.348C>T (p.Leu116=) | dbSNP |
| 12 | g.112453214T>A | CA386780538 | PTPN11 | c.352T>A (p.Ser118Thr) c.349T>A (p.Ser117Thr) | |
| 12 | g.112453214T>C | CA386780540 | PTPN11 | c.352T>C (p.Ser118Pro) c.349T>C (p.Ser117Pro) | |
| 12 | g.112453214T>G | CA386780544 | PTPN11 | c.352T>G (p.Ser118Ala) c.349T>G (p.Ser117Ala) | |
| 12 | g.112453215C>A | CA386780549 | PTPN11 | c.353C>A (p.Ser118Tyr) c.350C>A (p.Ser117Tyr) | dbSNP |
| 12 | g.112453215C>G | CA386780555 | PTPN11 | c.353C>G (p.Ser118Cys) c.350C>G (p.Ser117Cys) | |
| 12 | g.112453215C>T | CA386780556 | PTPN11 | c.353C>T (p.Ser118Phe) c.350C>T (p.Ser117Phe) | dbSNP |
| 12 | g.112453216T>A | CA481882344 | PTPN11 | c.354T>A (p.Ser118=) c.351T>A (p.Ser117=) | |
| 12 | g.112453216T>C | CA481882346 | PTPN11 | c.354T>C (p.Ser118=) c.351T>C (p.Ser117=) | |
| 12 | g.112453216T>G | CA481882348 | PTPN11 | c.354T>G (p.Ser118=) c.351T>G (p.Ser117=) | ClinVar gnomAD v4 |
| 12 | g.112453217G>A | CA386780559 | PTPN11 | c.355G>A (p.Gly119Arg) c.352G>A (p.Gly118Arg) | dbSNP |
| 12 | g.112453217G>C | CA386780562 | PTPN11 | c.355G>C (p.Gly119Arg) c.352G>C (p.Gly118Arg) | dbSNP |
| 12 | g.112453217G>T | CA386780568 | PTPN11 | c.355G>T (p.Gly119Trp) c.352G>T (p.Gly118Trp) | |
| 12 | g.112453219del | CA2727218685 | PTPN11 | c.357del (p.Glu121LysfsTer6) c.354del (p.Glu120LysfsTer6) | dbSNP |
| 12 | g.112453218G>A | CA386780569 | PTPN11 | c.356G>A (p.Gly119Glu) c.353G>A (p.Gly118Glu) | dbSNP |
| 12 | g.112453218G>C | CA386780570 | PTPN11 | c.356G>C (p.Gly119Ala) c.353G>C (p.Gly118Ala) | dbSNP |
| 12 | g.112453218G>T | CA386780573 | PTPN11 | c.356G>T (p.Gly119Val) c.353G>T (p.Gly118Val) | dbSNP |
| 12 | g.112453219G>A | CA481882358 | PTPN11 | c.357G>A (p.Gly119=) c.354G>A (p.Gly118=) | COSMIC |
| 12 | g.112453219G>C | CA481882356 | PTPN11 | c.357G>C (p.Gly119=) c.354G>C (p.Gly118=) | |
| 12 | g.112453219G>T | CA481882352 | PTPN11 | c.357G>T (p.Gly119=) c.354G>T (p.Gly118=) | |
| 12 | g.112453220A>C | CA386780583 | PTPN11 | c.358A>C (p.Lys120Gln) c.355A>C (p.Lys119Gln) | |
| 12 | g.112453220A>G | CA386780582 | PTPN11 | c.358A>G (p.Lys120Glu) c.355A>G (p.Lys119Glu) | |
| 12 | g.112453220A>T | CA386780578 | PTPN11 | c.358A>T (p.Lys120Ter) c.355A>T (p.Lys119Ter) | dbSNP |
| 12 | g.112453221A>C | CA386780588 | PTPN11 | c.359A>C (p.Lys120Thr) c.356A>C (p.Lys119Thr) | |
| 12 | g.112453221A>G | CA386780591 | PTPN11 | c.359A>G (p.Lys120Arg) c.356A>G (p.Lys119Arg) | |
| 12 | g.112453221A>T | CA386780592 | PTPN11 | c.359A>T (p.Lys120Ile) c.356A>T (p.Lys119Ile) | |
| 12 | g.112453222A>C | CA386780597 | PTPN11 | c.360A>C (p.Lys120Asn) c.357A>C (p.Lys119Asn) | |
| 12 | g.112453222A>G | CA481882370 | PTPN11 | c.360A>G (p.Lys120=) c.357A>G (p.Lys119=) | gnomAD v4 |
| 12 | g.112453222A>T | CA386780600 | PTPN11 | c.360A>T (p.Lys120Asn) c.357A>T (p.Lys119Asn) | |
| 12 | g.112453223G>A | CA386780605 | PTPN11 | c.361G>A (p.Glu121Lys) c.358G>A (p.Glu120Lys) | dbSNP |
| 12 | g.112453223G>C | CA386780607 | PTPN11 | c.361G>C (p.Glu121Gln) c.358G>C (p.Glu120Gln) | dbSNP |
| 12 | g.112453223G>T | CA386780610 | PTPN11 | c.361G>T (p.Glu121Ter) c.358G>T (p.Glu120Ter) | dbSNP |
| 12 | g.112453224A>C | CA386780613 | PTPN11 | c.362A>C (p.Glu121Ala) c.359A>C (p.Glu120Ala) | ClinVar |
| 12 | g.112453224A>G | CA386780615 | PTPN11 | c.362A>G (p.Glu121Gly) c.359A>G (p.Glu120Gly) | |
| 12 | g.112453224A>T | CA386780620 | PTPN11 | c.362A>T (p.Glu121Val) c.359A>T (p.Glu120Val) | |
| 12 | g.112453225A>C | CA386780623 | PTPN11 | c.363A>C (p.Glu121Asp) c.360A>C (p.Glu120Asp) | |
| 12 | g.112453225A>G | CA481882376 | PTPN11 | c.363A>G (p.Glu121=) c.360A>G (p.Glu120=) | ClinVar dbSNP |
| 12 | g.112453225A>T | CA386780629 | PTPN11 | c.363A>T (p.Glu121Asp) c.360A>T (p.Glu120Asp) | dbSNP |
| 12 | g.112453226G>A | CA386780653 | PTPN11 | c.364G>A (p.Ala122Thr) c.361G>A (p.Ala121Thr) | dbSNP |
| 12 | g.112453226G>C | CA386780657 | PTPN11 | c.364G>C (p.Ala122Pro) c.361G>C (p.Ala121Pro) | dbSNP |
| 12 | g.112453226G>T | CA386780646 | PTPN11 | c.364G>T (p.Ala122Ser) c.361G>T (p.Ala121Ser) | dbSNP |
| 12 | g.112453227C>A | CA386780659 | PTPN11 | c.365C>A (p.Ala122Glu) c.362C>A (p.Ala121Glu) | dbSNP gnomAD v4 |
| 12 | g.112453227C>G | CA386780660 | PTPN11 | c.365C>G (p.Ala122Gly) c.362C>G (p.Ala121Gly) | dbSNP |
| 12 | g.112453227C>T | CA386780663 | PTPN11 | c.365C>T (p.Ala122Val) c.362C>T (p.Ala121Val) | dbSNP |
| 12 | g.112453228A= | CA2063743309 | PTPN11 | c.366A= (p.Ala122=) c.363A= (p.Ala121=) | |
| 12 | g.112453228A>C | CA481882384 | PTPN11 | c.366A>C (p.Ala122=) c.363A>C (p.Ala121=) | |
| 12 | g.112453228A>G | CA243708211 | PTPN11 | c.366A>G (p.Ala122=) c.363A>G (p.Ala121=) | dbSNP |
| 12 | g.112453228A>T | CA481882386 | PTPN11 | c.366A>T (p.Ala122=) c.363A>T (p.Ala121=) |