OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30672115_30672135delinsAGGAGCGGAAGACGGAGTTGG | CA1354873136 | TGFBR2 | c.932_952delinsAGGAGCGGAAGACGGAGTTGG (p.Glu311=) n.2528_2548delinsAGGAGCGGAAGACGGAGTTGG c.1007_1027delinsAGGAGCGGAAGACGGAGTTGG (p.Glu336=) c.959_979delinsAGGAGCGGAAGACGGAGTTGG (p.Glu320=) c.884_904delinsAGGAGCGGAAGACGGAGTTGG (p.Glu295=) c.827_847delinsAGGAGCGGAAGACGGAGTTGG (p.Glu276=) | |
| 3 | g.30672119_30672138del | CA541976297 | TGFBR2 | c.936_955del (p.Arg313ThrfsTer?) n.2532_2551del c.1011_1030del (p.Arg338ThrfsTer?) c.963_982del (p.Arg322ThrfsTer?) c.888_907del (p.Arg297ThrfsTer?) c.831_850del (p.Arg278ThrfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672133T>A | CA351808230 | TGFBR2 | c.950T>A (p.Leu317Ter) n.2546T>A c.1025T>A (p.Leu342Ter) c.977T>A (p.Leu326Ter) c.902T>A (p.Leu301Ter) c.845T>A (p.Leu282Ter) | |
| 3 | g.30672133T>C | CA351808231 | TGFBR2 | c.950T>C (p.Leu317Ser) n.2546T>C c.1025T>C (p.Leu342Ser) c.977T>C (p.Leu326Ser) c.902T>C (p.Leu301Ser) c.845T>C (p.Leu282Ser) | |
| 3 | g.30672133T>G | CA351808232 | TGFBR2 | c.950T>G (p.Leu317Trp) n.2546T>G c.1025T>G (p.Leu342Trp) c.977T>G (p.Leu326Trp) c.902T>G (p.Leu301Trp) c.845T>G (p.Leu282Trp) | |
| 3 | g.30672134G>A | CA433058948 | TGFBR2 | c.951G>A (p.Leu317=) n.2547G>A c.1026G>A (p.Leu342=) c.978G>A (p.Leu326=) c.903G>A (p.Leu301=) c.846G>A (p.Leu282=) | ClinVar dbSNP |
| 3 | g.30672134G>C | CA351808233 | TGFBR2 | c.951G>C (p.Leu317Phe) n.2547G>C c.1026G>C (p.Leu342Phe) c.978G>C (p.Leu326Phe) c.903G>C (p.Leu301Phe) c.846G>C (p.Leu282Phe) | dbSNP |
| 3 | g.30672134G>T | CA351808234 | TGFBR2 | c.951G>T (p.Leu317Phe) n.2547G>T c.1026G>T (p.Leu342Phe) c.978G>T (p.Leu326Phe) c.903G>T (p.Leu301Phe) c.846G>T (p.Leu282Phe) | dbSNP gnomAD v4 |
| 3 | g.30672137del | CA645535106 | TGFBR2 | c.954del (p.Lys319AsnfsTer5) n.2550del c.1029del (p.Lys344AsnfsTer5) c.981del (p.Lys328AsnfsTer5) c.906del (p.Lys303AsnfsTer5) c.849del (p.Lys284AsnfsTer5) | COSMIC COSMIC |
| 3 | g.30672135G>A | CA351808237 | TGFBR2 | c.952G>A (p.Gly318Arg) n.2548G>A c.1027G>A (p.Gly343Arg) c.979G>A (p.Gly327Arg) c.904G>A (p.Gly302Arg) c.847G>A (p.Gly283Arg) | dbSNP |
| 3 | g.30672135G>C | CA351808236 | TGFBR2 | c.952G>C (p.Gly318Arg) n.2548G>C c.1027G>C (p.Gly343Arg) c.979G>C (p.Gly327Arg) c.904G>C (p.Gly302Arg) c.847G>C (p.Gly283Arg) | dbSNP |
| 3 | g.30672135G>T | CA351808235 | TGFBR2 | c.952G>T (p.Gly318Trp) n.2548G>T c.1027G>T (p.Gly343Trp) c.979G>T (p.Gly327Trp) c.904G>T (p.Gly302Trp) c.847G>T (p.Gly283Trp) | dbSNP |
| 3 | g.30672136G>A | CA351808238 | TGFBR2 | c.953G>A (p.Gly318Glu) n.2549G>A c.1028G>A (p.Gly343Glu) c.980G>A (p.Gly327Glu) c.905G>A (p.Gly302Glu) c.848G>A (p.Gly283Glu) | dbSNP |
| 3 | g.30672136G>C | CA050632 | TGFBR2 | c.953G>C (p.Gly318Ala) n.2549G>C c.1028G>C (p.Gly343Ala) c.980G>C (p.Gly327Ala) c.905G>C (p.Gly302Ala) c.848G>C (p.Gly283Ala) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 3 | g.30672136G= | CA1354873146 | TGFBR2 | c.953G= (p.Gly318=) n.2549G= c.1028G= (p.Gly343=) c.980G= (p.Gly327=) c.905G= (p.Gly302=) c.848G= (p.Gly283=) | |
| 3 | g.30672136G>T | CA351808239 | TGFBR2 | c.953G>T (p.Gly318Val) n.2549G>T c.1028G>T (p.Gly343Val) c.980G>T (p.Gly327Val) c.905G>T (p.Gly302Val) c.848G>T (p.Gly283Val) | dbSNP |
| 3 | g.30672137G>A | CA433058949 | TGFBR2 | c.954G>A (p.Gly318=) n.2550G>A c.1029G>A (p.Gly343=) c.981G>A (p.Gly327=) c.906G>A (p.Gly302=) c.849G>A (p.Gly283=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.30672137G>C | CA433058950 | TGFBR2 | c.954G>C (p.Gly318=) n.2550G>C c.1029G>C (p.Gly343=) c.981G>C (p.Gly327=) c.906G>C (p.Gly302=) c.849G>C (p.Gly283=) | dbSNP |
| 3 | g.30672137G>T | CA433058951 | TGFBR2 | c.954G>T (p.Gly318=) n.2550G>T c.1029G>T (p.Gly343=) c.981G>T (p.Gly327=) c.906G>T (p.Gly302=) c.849G>T (p.Gly283=) | |
| 3 | g.30672138A>C | CA351808240 | TGFBR2 | c.955A>C (p.Lys319Gln) n.2551A>C c.1030A>C (p.Lys344Gln) c.982A>C (p.Lys328Gln) c.907A>C (p.Lys303Gln) c.850A>C (p.Lys284Gln) | |
| 3 | g.30672138A>G | CA351808241 | TGFBR2 | c.955A>G (p.Lys319Glu) n.2551A>G c.1030A>G (p.Lys344Glu) c.982A>G (p.Lys328Glu) c.907A>G (p.Lys303Glu) c.850A>G (p.Lys284Glu) | dbSNP |
| 3 | g.30672138A>T | CA351808242 | TGFBR2 | c.955A>T (p.Lys319Ter) n.2551A>T c.1030A>T (p.Lys344Ter) c.982A>T (p.Lys328Ter) c.907A>T (p.Lys303Ter) c.850A>T (p.Lys284Ter) | |
| 3 | g.30672139A= | CA1354873147 | TGFBR2 | c.956A= (p.Lys319=) n.2552A= c.1031A= (p.Lys344=) c.983A= (p.Lys328=) c.908A= (p.Lys303=) c.851A= (p.Lys284=) | |
| 3 | g.30672139A>C | CA351808245 | TGFBR2 | c.956A>C (p.Lys319Thr) n.2552A>C c.1031A>C (p.Lys344Thr) c.983A>C (p.Lys328Thr) c.908A>C (p.Lys303Thr) c.851A>C (p.Lys284Thr) | gnomAD v4 |
| 3 | g.30672139A>G | CA351808243 | TGFBR2 | c.956A>G (p.Lys319Arg) n.2552A>G c.1031A>G (p.Lys344Arg) c.983A>G (p.Lys328Arg) c.908A>G (p.Lys303Arg) c.851A>G (p.Lys284Arg) | ClinVar dbSNP |
| 3 | g.30672139A>T | CA351808244 | TGFBR2 | c.956A>T (p.Lys319Ile) n.2552A>T c.1031A>T (p.Lys344Ile) c.983A>T (p.Lys328Ile) c.908A>T (p.Lys303Ile) c.851A>T (p.Lys284Ile) | |
| 3 | g.30672140A= | CA1354873148 | TGFBR2 | c.957A= (p.Lys319=) n.2553A= c.1032A= (p.Lys344=) c.984A= (p.Lys328=) c.909A= (p.Lys303=) c.852A= (p.Lys284=) | |
| 3 | g.30672140A>C | CA16621992 | TGFBR2 | c.957A>C (p.Lys319Asn) n.2553A>C c.1032A>C (p.Lys344Asn) c.984A>C (p.Lys328Asn) c.909A>C (p.Lys303Asn) c.852A>C (p.Lys284Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30672140A>G | CA433058952 | TGFBR2 | c.957A>G (p.Lys319=) n.2553A>G c.1032A>G (p.Lys344=) c.984A>G (p.Lys328=) c.909A>G (p.Lys303=) c.852A>G (p.Lys284=) | dbSNP gnomAD v4 |
| 3 | g.30672140A>T | CA351808246 | TGFBR2 | c.957A>T (p.Lys319Asn) n.2553A>T c.1032A>T (p.Lys344Asn) c.984A>T (p.Lys328Asn) c.909A>T (p.Lys303Asn) c.852A>T (p.Lys284Asn) | dbSNP |
| 3 | g.30672141C>A | CA351808247 | TGFBR2 | c.958C>A (p.Gln320Lys) n.2554C>A c.1033C>A (p.Gln345Lys) c.985C>A (p.Gln329Lys) c.910C>A (p.Gln304Lys) c.853C>A (p.Gln285Lys) | dbSNP |
| 3 | g.30672141C>G | CA351808248 | TGFBR2 | c.958C>G (p.Gln320Glu) n.2554C>G c.1033C>G (p.Gln345Glu) c.985C>G (p.Gln329Glu) c.910C>G (p.Gln304Glu) c.853C>G (p.Gln285Glu) | dbSNP |
| 3 | g.30672141C>T | CA351808249 | TGFBR2 | c.958C>T (p.Gln320Ter) n.2554C>T c.1033C>T (p.Gln345Ter) c.985C>T (p.Gln329Ter) c.910C>T (p.Gln304Ter) c.853C>T (p.Gln285Ter) | dbSNP |
| 3 | g.30672142A>C | CA351808250 | TGFBR2 | c.959A>C (p.Gln320Pro) n.2555A>C c.1034A>C (p.Gln345Pro) c.986A>C (p.Gln329Pro) c.911A>C (p.Gln304Pro) c.854A>C (p.Gln285Pro) | |
| 3 | g.30672142A>G | CA351808251 | TGFBR2 | c.959A>G (p.Gln320Arg) n.2555A>G c.1034A>G (p.Gln345Arg) c.986A>G (p.Gln329Arg) c.911A>G (p.Gln304Arg) c.854A>G (p.Gln285Arg) | |
| 3 | g.30672142A>T | CA351808252 | TGFBR2 | c.959A>T (p.Gln320Leu) n.2555A>T c.1034A>T (p.Gln345Leu) c.986A>T (p.Gln329Leu) c.911A>T (p.Gln304Leu) c.854A>T (p.Gln285Leu) | |
| 3 | g.30672143A= | CA1354873149 | TGFBR2 | c.960A= (p.Gln320=) n.2556A= c.1035A= (p.Gln345=) c.987A= (p.Gln329=) c.912A= (p.Gln304=) c.855A= (p.Gln285=) | |
| 3 | g.30672143A>C | CA351808253 | TGFBR2 | c.960A>C (p.Gln320His) n.2556A>C c.1035A>C (p.Gln345His) c.987A>C (p.Gln329His) c.912A>C (p.Gln304His) c.855A>C (p.Gln285His) | ClinVar gnomAD v4 |
| 3 | g.30672143A>G | CA433058953 | TGFBR2 | c.960A>G (p.Gln320=) n.2556A>G c.1035A>G (p.Gln345=) c.987A>G (p.Gln329=) c.912A>G (p.Gln304=) c.855A>G (p.Gln285=) | ClinVar dbSNP |
| 3 | g.30672143A>T | CA351808254 | TGFBR2 | c.960A>T (p.Gln320His) n.2556A>T c.1035A>T (p.Gln345His) c.987A>T (p.Gln329His) c.912A>T (p.Gln304His) c.855A>T (p.Gln285His) | |
| 3 | g.30672144T>A | CA351808255 | TGFBR2 | c.961T>A (p.Tyr321Asn) n.2557T>A c.1036T>A (p.Tyr346Asn) c.988T>A (p.Tyr330Asn) c.913T>A (p.Tyr305Asn) c.856T>A (p.Tyr286Asn) | dbSNP |
| 3 | g.30672144T>C | CA351808256 | TGFBR2 | c.961T>C (p.Tyr321His) n.2557T>C c.1036T>C (p.Tyr346His) c.988T>C (p.Tyr330His) c.913T>C (p.Tyr305His) c.856T>C (p.Tyr286His) | dbSNP |
| 3 | g.30672144T>G | CA351808257 | TGFBR2 | c.961T>G (p.Tyr321Asp) n.2557T>G c.1036T>G (p.Tyr346Asp) c.988T>G (p.Tyr330Asp) c.913T>G (p.Tyr305Asp) c.856T>G (p.Tyr286Asp) | ClinVar dbSNP |
| 3 | g.30672144T= | CA1354873150 | TGFBR2 | c.961T= (p.Tyr321=) n.2557T= c.1036T= (p.Tyr346=) c.988T= (p.Tyr330=) c.913T= (p.Tyr305=) c.856T= (p.Tyr286=) | |
| 3 | g.30672145A= | CA1354873151 | TGFBR2 | c.962A= (p.Tyr321=) n.2558A= c.1037A= (p.Tyr346=) c.989A= (p.Tyr330=) c.914A= (p.Tyr305=) c.857A= (p.Tyr286=) | |
| 3 | g.30672145A>C | CA351808260 | TGFBR2 | c.962A>C (p.Tyr321Ser) n.2558A>C c.1037A>C (p.Tyr346Ser) c.989A>C (p.Tyr330Ser) c.914A>C (p.Tyr305Ser) c.857A>C (p.Tyr286Ser) | |
| 3 | g.30672145A>G | CA351808259 | TGFBR2 | c.962A>G (p.Tyr321Cys) n.2558A>G c.1037A>G (p.Tyr346Cys) c.989A>G (p.Tyr330Cys) c.914A>G (p.Tyr305Cys) c.857A>G (p.Tyr286Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30672145A>T | CA351808258 | TGFBR2 | c.962A>T (p.Tyr321Phe) n.2558A>T c.1037A>T (p.Tyr346Phe) c.989A>T (p.Tyr330Phe) c.914A>T (p.Tyr305Phe) c.857A>T (p.Tyr286Phe) | dbSNP |
| 3 | g.30672146C>A | CA351808261 | TGFBR2 | c.963C>A (p.Tyr321Ter) n.2559C>A c.1038C>A (p.Tyr346Ter) c.990C>A (p.Tyr330Ter) c.915C>A (p.Tyr305Ter) c.858C>A (p.Tyr286Ter) | dbSNP |
| 3 | g.30672146C>G | CA351808262 | TGFBR2 | c.963C>G (p.Tyr321Ter) n.2559C>G c.1038C>G (p.Tyr346Ter) c.990C>G (p.Tyr330Ter) c.915C>G (p.Tyr305Ter) c.858C>G (p.Tyr286Ter) | dbSNP |
| 3 | g.30672146C>T | CA433058954 | TGFBR2 | c.963C>T (p.Tyr321=) n.2559C>T c.1038C>T (p.Tyr346=) c.990C>T (p.Tyr330=) c.915C>T (p.Tyr305=) c.858C>T (p.Tyr286=) | dbSNP |
| 3 | g.30672147T>A | CA351808263 | TGFBR2 | c.964T>A (p.Trp322Arg) n.2560T>A c.1039T>A (p.Trp347Arg) c.991T>A (p.Trp331Arg) c.916T>A (p.Trp306Arg) c.859T>A (p.Trp287Arg) | |
| 3 | g.30672147T>C | CA351808264 | TGFBR2 | c.964T>C (p.Trp322Arg) n.2560T>C c.1039T>C (p.Trp347Arg) c.991T>C (p.Trp331Arg) c.916T>C (p.Trp306Arg) c.859T>C (p.Trp287Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30672147T>G | CA321434 | TGFBR2 | c.964T>G (p.Trp322Gly) n.2560T>G c.1039T>G (p.Trp347Gly) c.991T>G (p.Trp331Gly) c.916T>G (p.Trp306Gly) c.859T>G (p.Trp287Gly) | ClinVar dbSNP |
| 3 | g.30672147T= | CA1354873152 | TGFBR2 | c.964T= (p.Trp322=) n.2560T= c.1039T= (p.Trp347=) c.991T= (p.Trp331=) c.916T= (p.Trp306=) c.859T= (p.Trp287=) | |
| 3 | g.30672148G>A | CA351808265 | TGFBR2 | c.965G>A (p.Trp322Ter) n.2561G>A c.1040G>A (p.Trp347Ter) c.992G>A (p.Trp331Ter) c.917G>A (p.Trp306Ter) c.860G>A (p.Trp287Ter) | gnomAD v4 |
| 3 | g.30672148G>C | CA351808266 | TGFBR2 | c.965G>C (p.Trp322Ser) n.2561G>C c.1040G>C (p.Trp347Ser) c.992G>C (p.Trp331Ser) c.917G>C (p.Trp306Ser) c.860G>C (p.Trp287Ser) | |
| 3 | g.30672148G>T | CA351808267 | TGFBR2 | c.965G>T (p.Trp322Leu) n.2561G>T c.1040G>T (p.Trp347Leu) c.992G>T (p.Trp331Leu) c.917G>T (p.Trp306Leu) c.860G>T (p.Trp287Leu) | |
| 3 | g.30672149del | CA2702371006 | TGFBR2 | c.966del (p.Trp322CysfsTer2) n.2562del c.1041del (p.Trp347CysfsTer2) c.993del (p.Trp331CysfsTer2) c.918del (p.Trp306CysfsTer2) c.861del (p.Trp287CysfsTer2) | dbSNP |
| 3 | g.30672149G>A | CA351808268 | TGFBR2 | c.966G>A (p.Trp322Ter) n.2562G>A c.1041G>A (p.Trp347Ter) c.993G>A (p.Trp331Ter) c.918G>A (p.Trp306Ter) c.861G>A (p.Trp287Ter) | dbSNP gnomAD v4 |
| 3 | g.30672149G>C | CA351808269 | TGFBR2 | c.966G>C (p.Trp322Cys) n.2562G>C c.1041G>C (p.Trp347Cys) c.993G>C (p.Trp331Cys) c.918G>C (p.Trp306Cys) c.861G>C (p.Trp287Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672149G= | CA1354873153 | TGFBR2 | c.966G= (p.Trp322=) n.2562G= c.1041G= (p.Trp347=) c.993G= (p.Trp331=) c.918G= (p.Trp306=) c.861G= (p.Trp287=) | |
| 3 | g.30672149G>T | CA351808270 | TGFBR2 | c.966G>T (p.Trp322Cys) n.2562G>T c.1041G>T (p.Trp347Cys) c.993G>T (p.Trp331Cys) c.918G>T (p.Trp306Cys) c.861G>T (p.Trp287Cys) | dbSNP gnomAD v4 |
| 3 | g.30672150C>A | CA351808271 | TGFBR2 | c.967C>A (p.Leu323Met) n.2563C>A c.1042C>A (p.Leu348Met) c.994C>A (p.Leu332Met) c.919C>A (p.Leu307Met) c.862C>A (p.Leu288Met) | dbSNP |
| 3 | g.30672150C= | CA1354873154 | TGFBR2 | c.967C= (p.Leu323=) n.2563C= c.1042C= (p.Leu348=) c.994C= (p.Leu332=) c.919C= (p.Leu307=) c.862C= (p.Leu288=) | |
| 3 | g.30672150C>G | CA050696 | TGFBR2 | c.967C>G (p.Leu323Val) n.2563C>G c.1042C>G (p.Leu348Val) c.994C>G (p.Leu332Val) c.919C>G (p.Leu307Val) c.862C>G (p.Leu288Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672150C>T | CA433058956 | TGFBR2 | c.967C>T (p.Leu323=) n.2563C>T c.1042C>T (p.Leu348=) c.994C>T (p.Leu332=) c.919C>T (p.Leu307=) c.862C>T (p.Leu288=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672151T>A | CA351808274 | TGFBR2 | c.968T>A (p.Leu323Gln) n.2564T>A c.1043T>A (p.Leu348Gln) c.995T>A (p.Leu332Gln) c.920T>A (p.Leu307Gln) c.863T>A (p.Leu288Gln) | dbSNP |
| 3 | g.30672151T>C | CA351808273 | TGFBR2 | c.968T>C (p.Leu323Pro) n.2564T>C c.1043T>C (p.Leu348Pro) c.995T>C (p.Leu332Pro) c.920T>C (p.Leu307Pro) c.863T>C (p.Leu288Pro) | COSMIC COSMIC |
| 3 | g.30672151T>G | CA351808272 | TGFBR2 | c.968T>G (p.Leu323Arg) n.2564T>G c.1043T>G (p.Leu348Arg) c.995T>G (p.Leu332Arg) c.920T>G (p.Leu307Arg) c.863T>G (p.Leu288Arg) | ClinVar dbSNP |
| 3 | g.30672151T= | CA1354873155 | TGFBR2 | c.968T= (p.Leu323=) n.2564T= c.1043T= (p.Leu348=) c.995T= (p.Leu332=) c.920T= (p.Leu307=) c.863T= (p.Leu288=) | |
| 3 | g.30672152G>A | CA433058957 | TGFBR2 | c.969G>A (p.Leu323=) n.2565G>A c.1044G>A (p.Leu348=) c.996G>A (p.Leu332=) c.921G>A (p.Leu307=) c.864G>A (p.Leu288=) | dbSNP |
| 3 | g.30672152G>C | CA433058958 | TGFBR2 | c.969G>C (p.Leu323=) n.2565G>C c.1044G>C (p.Leu348=) c.996G>C (p.Leu332=) c.921G>C (p.Leu307=) c.864G>C (p.Leu288=) | dbSNP |
| 3 | g.30672152G>T | CA433058959 | TGFBR2 | c.969G>T (p.Leu323=) n.2565G>T c.1044G>T (p.Leu348=) c.996G>T (p.Leu332=) c.921G>T (p.Leu307=) c.864G>T (p.Leu288=) | |
| 3 | g.30672153A>C | CA351808275 | TGFBR2 | c.970A>C (p.Ile324Leu) n.2566A>C c.1045A>C (p.Ile349Leu) c.997A>C (p.Ile333Leu) c.922A>C (p.Ile308Leu) c.865A>C (p.Ile289Leu) | dbSNP |
| 3 | g.30672153A>G | CA351808276 | TGFBR2 | c.970A>G (p.Ile324Val) n.2566A>G c.1045A>G (p.Ile349Val) c.997A>G (p.Ile333Val) c.922A>G (p.Ile308Val) c.865A>G (p.Ile289Val) | dbSNP gnomAD v4 |
| 3 | g.30672153A>T | CA351808277 | TGFBR2 | c.970A>T (p.Ile324Phe) n.2566A>T c.1045A>T (p.Ile349Phe) c.997A>T (p.Ile333Phe) c.922A>T (p.Ile308Phe) c.865A>T (p.Ile289Phe) | dbSNP |
| 3 | g.30672154T>A | CA351808278 | TGFBR2 | c.971T>A (p.Ile324Asn) n.2567T>A c.1046T>A (p.Ile349Asn) c.998T>A (p.Ile333Asn) c.923T>A (p.Ile308Asn) c.866T>A (p.Ile289Asn) | dbSNP |
| 3 | g.30672154T>C | CA351808279 | TGFBR2 | c.971T>C (p.Ile324Thr) n.2567T>C c.1046T>C (p.Ile349Thr) c.998T>C (p.Ile333Thr) c.923T>C (p.Ile308Thr) c.866T>C (p.Ile289Thr) | dbSNP |
| 3 | g.30672154T>G | CA351808280 | TGFBR2 | c.971T>G (p.Ile324Ser) n.2567T>G c.1046T>G (p.Ile349Ser) c.998T>G (p.Ile333Ser) c.923T>G (p.Ile308Ser) c.866T>G (p.Ile289Ser) | dbSNP |
| 3 | g.30672155C>A | CA433058960 | TGFBR2 | c.972C>A (p.Ile324=) n.2568C>A c.1047C>A (p.Ile349=) c.999C>A (p.Ile333=) c.924C>A (p.Ile308=) c.867C>A (p.Ile289=) | dbSNP |
| 3 | g.30672155C>G | CA351808281 | TGFBR2 | c.972C>G (p.Ile324Met) n.2568C>G c.1047C>G (p.Ile349Met) c.999C>G (p.Ile333Met) c.924C>G (p.Ile308Met) c.867C>G (p.Ile289Met) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672155C>T | CA433058961 | TGFBR2 | c.972C>T (p.Ile324=) n.2568C>T c.1047C>T (p.Ile349=) c.999C>T (p.Ile333=) c.924C>T (p.Ile308=) c.867C>T (p.Ile289=) | dbSNP |
| 3 | g.30672156_30672158del | CA923726382 | TGFBR2 | c.973_975del (p.Thr325del) n.2569_2571del c.1048_1050del (p.Thr350del) c.1000_1002del (p.Thr334del) c.925_927del (p.Thr309del) c.868_870del (p.Thr290del) | |
| 3 | g.30672156A>C | CA351808282 | TGFBR2 | c.973A>C (p.Thr325Pro) n.2569A>C c.1048A>C (p.Thr350Pro) c.1000A>C (p.Thr334Pro) c.925A>C (p.Thr309Pro) c.868A>C (p.Thr290Pro) | dbSNP |
| 3 | g.30672156A>G | CA351808283 | TGFBR2 | c.973A>G (p.Thr325Ala) n.2569A>G c.1048A>G (p.Thr350Ala) c.1000A>G (p.Thr334Ala) c.925A>G (p.Thr309Ala) c.868A>G (p.Thr290Ala) | |
| 3 | g.30672156A>T | CA351808284 | TGFBR2 | c.973A>T (p.Thr325Ser) n.2569A>T c.1048A>T (p.Thr350Ser) c.1000A>T (p.Thr334Ser) c.925A>T (p.Thr309Ser) c.868A>T (p.Thr290Ser) | dbSNP |
| 3 | g.30672157C>A | CA351808285 | TGFBR2 | c.974C>A (p.Thr325Asn) n.2570C>A c.1049C>A (p.Thr350Asn) c.1001C>A (p.Thr334Asn) c.926C>A (p.Thr309Asn) c.869C>A (p.Thr290Asn) | dbSNP |
| 3 | g.30672157C>G | CA351808286 | TGFBR2 | c.974C>G (p.Thr325Ser) n.2570C>G c.1049C>G (p.Thr350Ser) c.1001C>G (p.Thr334Ser) c.926C>G (p.Thr309Ser) c.869C>G (p.Thr290Ser) | dbSNP |
| 3 | g.30672157C>T | CA351808287 | TGFBR2 | c.974C>T (p.Thr325Ile) n.2570C>T c.1049C>T (p.Thr350Ile) c.1001C>T (p.Thr334Ile) c.926C>T (p.Thr309Ile) c.869C>T (p.Thr290Ile) | dbSNP COSMIC COSMIC |
| 3 | g.30672158C>A | CA433058962 | TGFBR2 | c.975C>A (p.Thr325=) n.2571C>A c.1050C>A (p.Thr350=) c.1002C>A (p.Thr334=) c.927C>A (p.Thr309=) c.870C>A (p.Thr290=) | dbSNP gnomAD v4 |
| 3 | g.30672158C= | CA1354873156 | TGFBR2 | c.975C= (p.Thr325=) n.2571C= c.1050C= (p.Thr350=) c.1002C= (p.Thr334=) c.927C= (p.Thr309=) c.870C= (p.Thr290=) | |
| 3 | g.30672158C>G | CA433058963 | TGFBR2 | c.975C>G (p.Thr325=) n.2571C>G c.1050C>G (p.Thr350=) c.1002C>G (p.Thr334=) c.927C>G (p.Thr309=) c.870C>G (p.Thr290=) | dbSNP |
| 3 | g.30672158C>T | CA050706 | TGFBR2 | c.975C>T (p.Thr325=) n.2571C>T c.1050C>T (p.Thr350=) c.1002C>T (p.Thr334=) c.927C>T (p.Thr309=) c.870C>T (p.Thr290=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672159G>A | CA050718 | TGFBR2 | c.976G>A (p.Ala326Thr) n.2572G>A c.1051G>A (p.Ala351Thr) c.1003G>A (p.Ala335Thr) c.928G>A (p.Ala310Thr) c.871G>A (p.Ala291Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672159G>C | CA351808289 | TGFBR2 | c.976G>C (p.Ala326Pro) n.2572G>C c.1051G>C (p.Ala351Pro) c.1003G>C (p.Ala335Pro) c.928G>C (p.Ala310Pro) c.871G>C (p.Ala291Pro) | dbSNP |
| 3 | g.30672159G= | CA1354873157 | TGFBR2 | c.976G= (p.Ala326=) n.2572G= c.1051G= (p.Ala351=) c.1003G= (p.Ala335=) c.928G= (p.Ala310=) c.871G= (p.Ala291=) | |
| 3 | g.30672159G>T | CA351808288 | TGFBR2 | c.976G>T (p.Ala326Ser) n.2572G>T c.1051G>T (p.Ala351Ser) c.1003G>T (p.Ala335Ser) c.928G>T (p.Ala310Ser) c.871G>T (p.Ala291Ser) | dbSNP |
| 3 | g.30672160C>A | CA351808290 | TGFBR2 | c.977C>A (p.Ala326Asp) n.2573C>A c.1052C>A (p.Ala351Asp) c.1004C>A (p.Ala335Asp) c.929C>A (p.Ala310Asp) c.872C>A (p.Ala291Asp) | dbSNP |
| 3 | g.30672160C>G | CA351808291 | TGFBR2 | c.977C>G (p.Ala326Gly) n.2573C>G c.1052C>G (p.Ala351Gly) c.1004C>G (p.Ala335Gly) c.929C>G (p.Ala310Gly) c.872C>G (p.Ala291Gly) | dbSNP |
| 3 | g.30672160C>T | CA351808292 | TGFBR2 | c.977C>T (p.Ala326Val) n.2573C>T c.1052C>T (p.Ala351Val) c.1004C>T (p.Ala335Val) c.929C>T (p.Ala310Val) c.872C>T (p.Ala291Val) | dbSNP gnomAD v4 |
| 3 | g.30672161C>A | CA433058964 | TGFBR2 | c.978C>A (p.Ala326=) n.2574C>A c.1053C>A (p.Ala351=) c.1005C>A (p.Ala335=) c.930C>A (p.Ala310=) c.873C>A (p.Ala291=) | |
| 3 | g.30672161C= | CA1354873158 | TGFBR2 | c.978C= (p.Ala326=) n.2574C= c.1053C= (p.Ala351=) c.1005C= (p.Ala335=) c.930C= (p.Ala310=) c.873C= (p.Ala291=) | |
| 3 | g.30672161C>G | CA433058965 | TGFBR2 | c.978C>G (p.Ala326=) n.2574C>G c.1053C>G (p.Ala351=) c.1005C>G (p.Ala335=) c.930C>G (p.Ala310=) c.873C>G (p.Ala291=) | |
| 3 | g.30672161C>T | CA433058966 | TGFBR2 | c.978C>T (p.Ala326=) n.2574C>T c.1053C>T (p.Ala351=) c.1005C>T (p.Ala335=) c.930C>T (p.Ala310=) c.873C>T (p.Ala291=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672162T>A | CA351808293 | TGFBR2 | c.979T>A (p.Phe327Ile) n.2575T>A c.1054T>A (p.Phe352Ile) c.1006T>A (p.Phe336Ile) c.931T>A (p.Phe311Ile) c.874T>A (p.Phe292Ile) | |
| 3 | g.30672162T>C | CA351808294 | TGFBR2 | c.979T>C (p.Phe327Leu) n.2575T>C c.1054T>C (p.Phe352Leu) c.1006T>C (p.Phe336Leu) c.931T>C (p.Phe311Leu) c.874T>C (p.Phe292Leu) | gnomAD v4 |
| 3 | g.30672162T>G | CA351808295 | TGFBR2 | c.979T>G (p.Phe327Val) n.2575T>G c.1054T>G (p.Phe352Val) c.1006T>G (p.Phe336Val) c.931T>G (p.Phe311Val) c.874T>G (p.Phe292Val) | |
| 3 | g.30672163T>A | CA351808296 | TGFBR2 | c.980T>A (p.Phe327Tyr) n.2576T>A c.1055T>A (p.Phe352Tyr) c.1007T>A (p.Phe336Tyr) c.932T>A (p.Phe311Tyr) c.875T>A (p.Phe292Tyr) | |
| 3 | g.30672163T>C | CA351808297 | TGFBR2 | c.980T>C (p.Phe327Ser) n.2576T>C c.1055T>C (p.Phe352Ser) c.1007T>C (p.Phe336Ser) c.932T>C (p.Phe311Ser) c.875T>C (p.Phe292Ser) | |
| 3 | g.30672163T>G | CA351808298 | TGFBR2 | c.980T>G (p.Phe327Cys) n.2576T>G c.1055T>G (p.Phe352Cys) c.1007T>G (p.Phe336Cys) c.932T>G (p.Phe311Cys) c.875T>G (p.Phe292Cys) | |
| 3 | g.30672163_30672164insGATCAG | CA2702371626 | TGFBR2 | c.980_981insGATCAG (p.Phe327delinsLeuIleSer) n.2576_2577insGATCAG c.1055_1056insGATCAG (p.Phe352delinsLeuIleSer) c.1007_1008insGATCAG (p.Phe336delinsLeuIleSer) c.932_933insGATCAG (p.Phe311delinsLeuIleSer) c.875_876insGATCAG (p.Phe292delinsLeuIleSer) | dbSNP |
| 3 | g.30672164C>A | CA351808299 | TGFBR2 | c.981C>A (p.Phe327Leu) n.2577C>A c.1056C>A (p.Phe352Leu) c.1008C>A (p.Phe336Leu) c.933C>A (p.Phe311Leu) c.876C>A (p.Phe292Leu) | dbSNP |
| 3 | g.30672164C= | CA1354873159 | TGFBR2 | c.981C= (p.Phe327=) n.2577C= c.1056C= (p.Phe352=) c.1008C= (p.Phe336=) c.933C= (p.Phe311=) c.876C= (p.Phe292=) | |
| 3 | g.30672164C>G | CA351808300 | TGFBR2 | c.981C>G (p.Phe327Leu) n.2577C>G c.1056C>G (p.Phe352Leu) c.1008C>G (p.Phe336Leu) c.933C>G (p.Phe311Leu) c.876C>G (p.Phe292Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672164C>T | CA433058967 | TGFBR2 | c.981C>T (p.Phe327=) n.2577C>T c.1056C>T (p.Phe352=) c.1008C>T (p.Phe336=) c.933C>T (p.Phe311=) c.876C>T (p.Phe292=) | dbSNP |
| 3 | g.30672165C>A | CA351808301 | TGFBR2 | c.982C>A (p.His328Asn) n.2578C>A c.1057C>A (p.His353Asn) c.1009C>A (p.His337Asn) c.934C>A (p.His312Asn) c.877C>A (p.His293Asn) | dbSNP |
| 3 | g.30672165C>G | CA351808302 | TGFBR2 | c.982C>G (p.His328Asp) n.2578C>G c.1057C>G (p.His353Asp) c.1009C>G (p.His337Asp) c.934C>G (p.His312Asp) c.877C>G (p.His293Asp) | |
| 3 | g.30672165C>T | CA351808303 | TGFBR2 | c.982C>T (p.His328Tyr) n.2578C>T c.1057C>T (p.His353Tyr) c.1009C>T (p.His337Tyr) c.934C>T (p.His312Tyr) c.877C>T (p.His293Tyr) | dbSNP COSMIC COSMIC |
| 3 | g.30672166A>C | CA351808305 | TGFBR2 | c.983A>C (p.His328Pro) n.2579A>C c.1058A>C (p.His353Pro) c.1010A>C (p.His337Pro) c.935A>C (p.His312Pro) c.878A>C (p.His293Pro) | |
| 3 | g.30672166A>G | CA351808306 | TGFBR2 | c.983A>G (p.His328Arg) n.2579A>G c.1058A>G (p.His353Arg) c.1010A>G (p.His337Arg) c.935A>G (p.His312Arg) c.878A>G (p.His293Arg) | |
| 3 | g.30672166A>T | CA351808304 | TGFBR2 | c.983A>T (p.His328Leu) n.2579A>T c.1058A>T (p.His353Leu) c.1010A>T (p.His337Leu) c.935A>T (p.His312Leu) c.878A>T (p.His293Leu) | dbSNP |
| 3 | g.30672167C>A | CA050726 | TGFBR2 | c.984C>A (p.His328Gln) n.2580C>A c.1059C>A (p.His353Gln) c.1011C>A (p.His337Gln) c.936C>A (p.His312Gln) c.879C>A (p.His293Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672167C= | CA1354873160 | TGFBR2 | c.984C= (p.His328=) n.2580C= c.1059C= (p.His353=) c.1011C= (p.His337=) c.936C= (p.His312=) c.879C= (p.His293=) | |
| 3 | g.30672167C>G | CA351808307 | TGFBR2 | c.984C>G (p.His328Gln) n.2580C>G c.1059C>G (p.His353Gln) c.1011C>G (p.His337Gln) c.936C>G (p.His312Gln) c.879C>G (p.His293Gln) | dbSNP |
| 3 | g.30672167C>T | CA020559 | TGFBR2 | c.984C>T (p.His328=) n.2580C>T c.1059C>T (p.His353=) c.1011C>T (p.His337=) c.936C>T (p.His312=) c.879C>T (p.His293=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.30672168G>A | CA020563 | TGFBR2 | c.985G>A (p.Ala329Thr) n.2581G>A c.1060G>A (p.Ala354Thr) c.1012G>A (p.Ala338Thr) c.937G>A (p.Ala313Thr) c.880G>A (p.Ala294Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672168G>C | CA351808308 | TGFBR2 | c.985G>C (p.Ala329Pro) n.2581G>C c.1060G>C (p.Ala354Pro) c.1012G>C (p.Ala338Pro) c.937G>C (p.Ala313Pro) c.880G>C (p.Ala294Pro) | dbSNP |
| 3 | g.30672168G= | CA1354873161 | TGFBR2 | c.985G= (p.Ala329=) n.2581G= c.1060G= (p.Ala354=) c.1012G= (p.Ala338=) c.937G= (p.Ala313=) c.880G= (p.Ala294=) | |
| 3 | g.30672168G>T | CA351808309 | TGFBR2 | c.985G>T (p.Ala329Ser) n.2581G>T c.1060G>T (p.Ala354Ser) c.1012G>T (p.Ala338Ser) c.937G>T (p.Ala313Ser) c.880G>T (p.Ala294Ser) | |
| 3 | g.30672169C>A | CA351808310 | TGFBR2 | c.986C>A (p.Ala329Asp) n.2582C>A c.1061C>A (p.Ala354Asp) c.1013C>A (p.Ala338Asp) c.938C>A (p.Ala313Asp) c.881C>A (p.Ala294Asp) | dbSNP |
| 3 | g.30672169C= | CA1354873162 | TGFBR2 | c.986C= (p.Ala329=) n.2582C= c.1061C= (p.Ala354=) c.1013C= (p.Ala338=) c.938C= (p.Ala313=) c.881C= (p.Ala294=) | |
| 3 | g.30672169C>G | CA351808311 | TGFBR2 | c.986C>G (p.Ala329Gly) n.2582C>G c.1061C>G (p.Ala354Gly) c.1013C>G (p.Ala338Gly) c.938C>G (p.Ala313Gly) c.881C>G (p.Ala294Gly) | dbSNP gnomAD v4 |
| 3 | g.30672169C>T | CA050756 | TGFBR2 | c.986C>T (p.Ala329Val) n.2582C>T c.1061C>T (p.Ala354Val) c.1013C>T (p.Ala338Val) c.938C>T (p.Ala313Val) c.881C>T (p.Ala294Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672170C>A | CA433058969 | TGFBR2 | c.987C>A (p.Ala329=) n.2583C>A c.1062C>A (p.Ala354=) c.1014C>A (p.Ala338=) c.939C>A (p.Ala313=) c.882C>A (p.Ala294=) | dbSNP |
| 3 | g.30672170C= | CA1354873163 | TGFBR2 | c.987C= (p.Ala329=) n.2583C= c.1062C= (p.Ala354=) c.1014C= (p.Ala338=) c.939C= (p.Ala313=) c.882C= (p.Ala294=) | |
| 3 | g.30672170C>G | CA433058968 | TGFBR2 | c.987C>G (p.Ala329=) n.2583C>G c.1062C>G (p.Ala354=) c.1014C>G (p.Ala338=) c.939C>G (p.Ala313=) c.882C>G (p.Ala294=) | |
| 3 | g.30672170C>T | CA020567 | TGFBR2 | c.987C>T (p.Ala329=) n.2583C>T c.1062C>T (p.Ala354=) c.1014C>T (p.Ala338=) c.939C>T (p.Ala313=) c.882C>T (p.Ala294=) | ClinVar dbSNP |
| 3 | g.30672171A>C | CA351808312 | TGFBR2 | c.988A>C (p.Lys330Gln) n.2584A>C c.1063A>C (p.Lys355Gln) c.1015A>C (p.Lys339Gln) c.940A>C (p.Lys314Gln) c.883A>C (p.Lys295Gln) | |
| 3 | g.30672171A>G | CA351808313 | TGFBR2 | c.988A>G (p.Lys330Glu) n.2584A>G c.1063A>G (p.Lys355Glu) c.1015A>G (p.Lys339Glu) c.940A>G (p.Lys314Glu) c.883A>G (p.Lys295Glu) | |
| 3 | g.30672171A>T | CA351808314 | TGFBR2 | c.988A>T (p.Lys330Ter) n.2584A>T c.1063A>T (p.Lys355Ter) c.1015A>T (p.Lys339Ter) c.940A>T (p.Lys314Ter) c.883A>T (p.Lys295Ter) | |
| 3 | g.30672172A>C | CA351808317 | TGFBR2 | c.989A>C (p.Lys330Thr) n.2585A>C c.1064A>C (p.Lys355Thr) c.1016A>C (p.Lys339Thr) c.941A>C (p.Lys314Thr) c.884A>C (p.Lys295Thr) | |
| 3 | g.30672172A>G | CA351808315 | TGFBR2 | c.989A>G (p.Lys330Arg) n.2585A>G c.1064A>G (p.Lys355Arg) c.1016A>G (p.Lys339Arg) c.941A>G (p.Lys314Arg) c.884A>G (p.Lys295Arg) | dbSNP gnomAD v4 |
| 3 | g.30672172A>T | CA351808316 | TGFBR2 | c.989A>T (p.Lys330Met) n.2585A>T c.1064A>T (p.Lys355Met) c.1016A>T (p.Lys339Met) c.941A>T (p.Lys314Met) c.884A>T (p.Lys295Met) | dbSNP |
| 3 | g.30672173G>A | CA433058970 | TGFBR2 | c.990G>A (p.Lys330=) n.2586G>A c.1065G>A (p.Lys355=) c.1017G>A (p.Lys339=) c.942G>A (p.Lys314=) c.885G>A (p.Lys295=) | |
| 3 | g.30672173G>C | CA351808318 | TGFBR2 | c.990G>C (p.Lys330Asn) n.2586G>C c.1065G>C (p.Lys355Asn) c.1017G>C (p.Lys339Asn) c.942G>C (p.Lys314Asn) c.885G>C (p.Lys295Asn) | dbSNP |
| 3 | g.30672173G>T | CA351808319 | TGFBR2 | c.990G>T (p.Lys330Asn) n.2586G>T c.1065G>T (p.Lys355Asn) c.1017G>T (p.Lys339Asn) c.942G>T (p.Lys314Asn) c.885G>T (p.Lys295Asn) | |
| 3 | g.30672174G>A | CA050772 | TGFBR2 | c.991G>A (p.Gly331Ser) n.2587G>A c.1066G>A (p.Gly356Ser) c.1018G>A (p.Gly340Ser) c.943G>A (p.Gly315Ser) c.886G>A (p.Gly296Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672174G>C | CA351808320 | TGFBR2 | c.991G>C (p.Gly331Arg) n.2587G>C c.1066G>C (p.Gly356Arg) c.1018G>C (p.Gly340Arg) c.943G>C (p.Gly315Arg) c.886G>C (p.Gly296Arg) | dbSNP |
| 3 | g.30672174G= | CA1354873164 | TGFBR2 | c.991G= (p.Gly331=) n.2587G= c.1066G= (p.Gly356=) c.1018G= (p.Gly340=) c.943G= (p.Gly315=) c.886G= (p.Gly296=) | |
| 3 | g.30672174G>T | CA351808321 | TGFBR2 | c.991G>T (p.Gly331Cys) n.2587G>T c.1066G>T (p.Gly356Cys) c.1018G>T (p.Gly340Cys) c.943G>T (p.Gly315Cys) c.886G>T (p.Gly296Cys) | dbSNP |
| 3 | g.30672175G>A | CA351808322 | TGFBR2 | c.992G>A (p.Gly331Asp) n.2588G>A c.1067G>A (p.Gly356Asp) c.1019G>A (p.Gly340Asp) c.944G>A (p.Gly315Asp) c.887G>A (p.Gly296Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672175G>C | CA351808323 | TGFBR2 | c.992G>C (p.Gly331Ala) n.2588G>C c.1067G>C (p.Gly356Ala) c.1019G>C (p.Gly340Ala) c.944G>C (p.Gly315Ala) c.887G>C (p.Gly296Ala) | dbSNP |
| 3 | g.30672175G= | CA1354873165 | TGFBR2 | c.992G= (p.Gly331=) n.2588G= c.1067G= (p.Gly356=) c.1019G= (p.Gly340=) c.944G= (p.Gly315=) c.887G= (p.Gly296=) | |
| 3 | g.30672175G>T | CA351808324 | TGFBR2 | c.992G>T (p.Gly331Val) n.2588G>T c.1067G>T (p.Gly356Val) c.1019G>T (p.Gly340Val) c.944G>T (p.Gly315Val) c.887G>T (p.Gly296Val) | |
| 3 | g.30672176C>A | CA433058971 | TGFBR2 | c.993C>A (p.Gly331=) n.2589C>A c.1068C>A (p.Gly356=) c.1020C>A (p.Gly340=) c.945C>A (p.Gly315=) c.888C>A (p.Gly296=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672176C= | CA1354873166 | TGFBR2 | c.993C= (p.Gly331=) n.2589C= c.1068C= (p.Gly356=) c.1020C= (p.Gly340=) c.945C= (p.Gly315=) c.888C= (p.Gly296=) | |
| 3 | g.30672176C>G | CA433058973 | TGFBR2 | c.993C>G (p.Gly331=) n.2589C>G c.1068C>G (p.Gly356=) c.1020C>G (p.Gly340=) c.945C>G (p.Gly315=) c.888C>G (p.Gly296=) | dbSNP |
| 3 | g.30672176C>T | CA433058972 | TGFBR2 | c.993C>T (p.Gly331=) n.2589C>T c.1068C>T (p.Gly356=) c.1020C>T (p.Gly340=) c.945C>T (p.Gly315=) c.888C>T (p.Gly296=) | ClinVar dbSNP |
| 3 | g.30672177A>C | CA351808325 | TGFBR2 | c.994A>C (p.Asn332His) n.2590A>C c.1069A>C (p.Asn357His) c.1021A>C (p.Asn341His) c.946A>C (p.Asn316His) c.889A>C (p.Asn297His) | |
| 3 | g.30672177A>G | CA351808326 | TGFBR2 | c.994A>G (p.Asn332Asp) n.2590A>G c.1069A>G (p.Asn357Asp) c.1021A>G (p.Asn341Asp) c.946A>G (p.Asn316Asp) c.889A>G (p.Asn297Asp) | |
| 3 | g.30672177A>T | CA351808327 | TGFBR2 | c.994A>T (p.Asn332Tyr) n.2590A>T c.1069A>T (p.Asn357Tyr) c.1021A>T (p.Asn341Tyr) c.946A>T (p.Asn316Tyr) c.889A>T (p.Asn297Tyr) | |
| 3 | g.30672178A>C | CA351808328 | TGFBR2 | c.995A>C (p.Asn332Thr) n.2591A>C c.1070A>C (p.Asn357Thr) c.1022A>C (p.Asn341Thr) c.947A>C (p.Asn316Thr) c.890A>C (p.Asn297Thr) | dbSNP |
| 3 | g.30672178A>G | CA351808330 | TGFBR2 | c.995A>G (p.Asn332Ser) n.2591A>G c.1070A>G (p.Asn357Ser) c.1022A>G (p.Asn341Ser) c.947A>G (p.Asn316Ser) c.890A>G (p.Asn297Ser) | COSMIC COSMIC |
| 3 | g.30672178A>T | CA351808329 | TGFBR2 | c.995A>T (p.Asn332Ile) n.2591A>T c.1070A>T (p.Asn357Ile) c.1022A>T (p.Asn341Ile) c.947A>T (p.Asn316Ile) c.890A>T (p.Asn297Ile) | dbSNP |
| 3 | g.30672179C>A | CA351808331 | TGFBR2 | c.996C>A (p.Asn332Lys) n.2592C>A c.1071C>A (p.Asn357Lys) c.1023C>A (p.Asn341Lys) c.948C>A (p.Asn316Lys) c.891C>A (p.Asn297Lys) | |
| 3 | g.30672179C>G | CA351808332 | TGFBR2 | c.996C>G (p.Asn332Lys) n.2592C>G c.1071C>G (p.Asn357Lys) c.1023C>G (p.Asn341Lys) c.948C>G (p.Asn316Lys) c.891C>G (p.Asn297Lys) | |
| 3 | g.30672179C>T | CA433058974 | TGFBR2 | c.996C>T (p.Asn332=) n.2592C>T c.1071C>T (p.Asn357=) c.1023C>T (p.Asn341=) c.948C>T (p.Asn316=) c.891C>T (p.Asn297=) | ClinVar gnomAD v4 |
| 3 | g.30672180C>A | CA351808333 | TGFBR2 | c.997C>A (p.Leu333Ile) n.2593C>A c.1072C>A (p.Leu358Ile) c.1024C>A (p.Leu342Ile) c.949C>A (p.Leu317Ile) c.892C>A (p.Leu298Ile) | |
| 3 | g.30672180C= | CA1354873167 | TGFBR2 | c.997C= (p.Leu333=) n.2593C= c.1072C= (p.Leu358=) c.1024C= (p.Leu342=) c.949C= (p.Leu317=) c.892C= (p.Leu298=) | |
| 3 | g.30672180C>G | CA351808334 | TGFBR2 | c.997C>G (p.Leu333Val) n.2593C>G c.1072C>G (p.Leu358Val) c.1024C>G (p.Leu342Val) c.949C>G (p.Leu317Val) c.892C>G (p.Leu298Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672180C>T | CA433058975 | TGFBR2 | c.997C>T (p.Leu333=) n.2593C>T c.1072C>T (p.Leu358=) c.1024C>T (p.Leu342=) c.949C>T (p.Leu317=) c.892C>T (p.Leu298=) | gnomAD v4 |
| 3 | g.30672181T>A | CA324102 | TGFBR2 | c.998T>A (p.Leu333Gln) n.2594T>A c.1073T>A (p.Leu358Gln) c.1025T>A (p.Leu342Gln) c.950T>A (p.Leu317Gln) c.893T>A (p.Leu298Gln) | ClinVar dbSNP |
| 3 | g.30672181T>C | CA351808336 | TGFBR2 | c.998T>C (p.Leu333Pro) n.2594T>C c.1073T>C (p.Leu358Pro) c.1025T>C (p.Leu342Pro) c.950T>C (p.Leu317Pro) c.893T>C (p.Leu298Pro) | |
| 3 | g.30672181T>G | CA351808335 | TGFBR2 | c.998T>G (p.Leu333Arg) n.2594T>G c.1073T>G (p.Leu358Arg) c.1025T>G (p.Leu342Arg) c.950T>G (p.Leu317Arg) c.893T>G (p.Leu298Arg) | |
| 3 | g.30672181T= | CA1354873168 | TGFBR2 | c.998T= (p.Leu333=) n.2594T= c.1073T= (p.Leu358=) c.1025T= (p.Leu342=) c.950T= (p.Leu317=) c.893T= (p.Leu298=) | |
| 3 | g.30672182A= | CA1354873169 | TGFBR2 | c.999A= (p.Leu333=) n.2595A= c.1074A= (p.Leu358=) c.1026A= (p.Leu342=) c.951A= (p.Leu317=) c.894A= (p.Leu298=) | |
| 3 | g.30672182A>C | CA433058977 | TGFBR2 | c.999A>C (p.Leu333=) n.2595A>C c.1074A>C (p.Leu358=) c.1026A>C (p.Leu342=) c.951A>C (p.Leu317=) c.894A>C (p.Leu298=) | |
| 3 | g.30672182A>G | CA020571 | TGFBR2 | c.999A>G (p.Leu333=) n.2595A>G c.1074A>G (p.Leu358=) c.1026A>G (p.Leu342=) c.951A>G (p.Leu317=) c.894A>G (p.Leu298=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672182A>T | CA433058978 | TGFBR2 | c.999A>T (p.Leu333=) n.2595A>T c.1074A>T (p.Leu358=) c.1026A>T (p.Leu342=) c.951A>T (p.Leu317=) c.894A>T (p.Leu298=) | |
| 3 | g.30672183C>A | CA351808337 | TGFBR2 | c.1000C>A (p.Gln334Lys) n.2596C>A c.1075C>A (p.Gln359Lys) c.1027C>A (p.Gln343Lys) c.952C>A (p.Gln318Lys) c.895C>A (p.Gln299Lys) | |
| 3 | g.30672183C>G | CA351808338 | TGFBR2 | c.1000C>G (p.Gln334Glu) n.2596C>G c.1075C>G (p.Gln359Glu) c.1027C>G (p.Gln343Glu) c.952C>G (p.Gln318Glu) c.895C>G (p.Gln299Glu) | dbSNP |
| 3 | g.30672183C>T | CA351808339 | TGFBR2 | c.1000C>T (p.Gln334Ter) n.2596C>T c.1075C>T (p.Gln359Ter) c.1027C>T (p.Gln343Ter) c.952C>T (p.Gln318Ter) c.895C>T (p.Gln299Ter) | |
| 3 | g.30672184A= | CA1354873170 | TGFBR2 | c.1001A= (p.Gln334=) n.2597A= c.1076A= (p.Gln359=) c.1028A= (p.Gln343=) c.953A= (p.Gln318=) c.896A= (p.Gln299=) | |
| 3 | g.30672184A>C | CA351808340 | TGFBR2 | c.1001A>C (p.Gln334Pro) n.2597A>C c.1076A>C (p.Gln359Pro) c.1028A>C (p.Gln343Pro) c.953A>C (p.Gln318Pro) c.896A>C (p.Gln299Pro) | |
| 3 | g.30672184A>G | CA045319 | TGFBR2 | c.1001A>G (p.Gln334Arg) n.2597A>G c.1076A>G (p.Gln359Arg) c.1028A>G (p.Gln343Arg) c.953A>G (p.Gln318Arg) c.896A>G (p.Gln299Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672184A>T | CA351808341 | TGFBR2 | c.1001A>T (p.Gln334Leu) n.2597A>T c.1076A>T (p.Gln359Leu) c.1028A>T (p.Gln343Leu) c.953A>T (p.Gln318Leu) c.896A>T (p.Gln299Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672185G>A | CA433058979 | TGFBR2 | c.1002G>A (p.Gln334=) n.2598G>A c.1077G>A (p.Gln359=) c.1029G>A (p.Gln343=) c.954G>A (p.Gln318=) c.897G>A (p.Gln299=) | gnomAD v4 |
| 3 | g.30672185G>C | CA351808342 | TGFBR2 | c.1002G>C (p.Gln334His) n.2598G>C c.1077G>C (p.Gln359His) c.1029G>C (p.Gln343His) c.954G>C (p.Gln318His) c.897G>C (p.Gln299His) | |
| 3 | g.30672185G= | CA1354873171 | TGFBR2 | c.1002G= (p.Gln334=) n.2598G= c.1077G= (p.Gln359=) c.1029G= (p.Gln343=) c.954G= (p.Gln318=) c.897G= (p.Gln299=) | |
| 3 | g.30672185G>T | CA351808343 | TGFBR2 | c.1002G>T (p.Gln334His) n.2598G>T c.1077G>T (p.Gln359His) c.1029G>T (p.Gln343His) c.954G>T (p.Gln318His) c.897G>T (p.Gln299His) | ClinVar dbSNP |
| 3 | g.30672186G>A | CA351808344 | TGFBR2 | c.1003G>A (p.Glu335Lys) n.2599G>A c.1078G>A (p.Glu360Lys) c.1030G>A (p.Glu344Lys) c.955G>A (p.Glu319Lys) c.898G>A (p.Glu300Lys) | |
| 3 | g.30672186G>C | CA351808345 | TGFBR2 | c.1003G>C (p.Glu335Gln) n.2599G>C c.1078G>C (p.Glu360Gln) c.1030G>C (p.Glu344Gln) c.955G>C (p.Glu319Gln) c.898G>C (p.Glu300Gln) | gnomAD v4 |
| 3 | g.30672186G= | CA1354873172 | TGFBR2 | c.1003G= (p.Glu335=) n.2599G= c.1078G= (p.Glu360=) c.1030G= (p.Glu344=) c.955G= (p.Glu319=) c.898G= (p.Glu300=) | |
| 3 | g.30672186G>T | CA71528506 | TGFBR2 | c.1003G>T (p.Glu335Ter) n.2599G>T c.1078G>T (p.Glu360Ter) c.1030G>T (p.Glu344Ter) c.955G>T (p.Glu319Ter) c.898G>T (p.Glu300Ter) | dbSNP |
| 3 | g.30672187A>C | CA351808348 | TGFBR2 | c.1004A>C (p.Glu335Ala) n.2600A>C c.1079A>C (p.Glu360Ala) c.1031A>C (p.Glu344Ala) c.956A>C (p.Glu319Ala) c.899A>C (p.Glu300Ala) | |
| 3 | g.30672187A>G | CA351808346 | TGFBR2 | c.1004A>G (p.Glu335Gly) n.2600A>G c.1079A>G (p.Glu360Gly) c.1031A>G (p.Glu344Gly) c.956A>G (p.Glu319Gly) c.899A>G (p.Glu300Gly) | |
| 3 | g.30672187A>T | CA351808347 | TGFBR2 | c.1004A>T (p.Glu335Val) n.2600A>T c.1079A>T (p.Glu360Val) c.1031A>T (p.Glu344Val) c.956A>T (p.Glu319Val) c.899A>T (p.Glu300Val) | |
| 3 | g.30672188G>A | CA433058981 | TGFBR2 | c.1005G>A (p.Glu335=) n.2601G>A c.1080G>A (p.Glu360=) c.1032G>A (p.Glu344=) c.957G>A (p.Glu319=) c.900G>A (p.Glu300=) | dbSNP |
| 3 | g.30672188G>C | CA351808349 | TGFBR2 | c.1005G>C (p.Glu335Asp) n.2601G>C c.1080G>C (p.Glu360Asp) c.1032G>C (p.Glu344Asp) c.957G>C (p.Glu319Asp) c.900G>C (p.Glu300Asp) | |
| 3 | g.30672188G>T | CA351808350 | TGFBR2 | c.1005G>T (p.Glu335Asp) n.2601G>T c.1080G>T (p.Glu360Asp) c.1032G>T (p.Glu344Asp) c.957G>T (p.Glu319Asp) c.900G>T (p.Glu300Asp) | |
| 3 | g.30672189T>A | CA020575 | TGFBR2 | c.1006T>A (p.Tyr336Asn) n.2602T>A c.1081T>A (p.Tyr361Asn) c.1033T>A (p.Tyr345Asn) c.958T>A (p.Tyr320Asn) c.901T>A (p.Tyr301Asn) | ClinVar dbSNP |
| 3 | g.30672189T>C | CA351808351 | TGFBR2 | c.1006T>C (p.Tyr336His) n.2602T>C c.1081T>C (p.Tyr361His) c.1033T>C (p.Tyr345His) c.958T>C (p.Tyr320His) c.901T>C (p.Tyr301His) | |
| 3 | g.30672189T>G | CA351808352 | TGFBR2 | c.1006T>G (p.Tyr336Asp) n.2602T>G c.1081T>G (p.Tyr361Asp) c.1033T>G (p.Tyr345Asp) c.958T>G (p.Tyr320Asp) c.901T>G (p.Tyr301Asp) | ClinVar dbSNP |
| 3 | g.30672189T= | CA1354873173 | TGFBR2 | c.1006T= (p.Tyr336=) n.2602T= c.1081T= (p.Tyr361=) c.1033T= (p.Tyr345=) c.958T= (p.Tyr320=) c.901T= (p.Tyr301=) | |
| 3 | g.30672190A= | CA1354873174 | TGFBR2 | c.1007A= (p.Tyr336=) n.2603A= c.1082A= (p.Tyr361=) c.1034A= (p.Tyr345=) c.959A= (p.Tyr320=) c.902A= (p.Tyr301=) | |
| 3 | g.30672190A>C | CA351808353 | TGFBR2 | c.1007A>C (p.Tyr336Ser) n.2603A>C c.1082A>C (p.Tyr361Ser) c.1034A>C (p.Tyr345Ser) c.959A>C (p.Tyr320Ser) c.902A>C (p.Tyr301Ser) | ClinVar |
| 3 | g.30672190A>G | CA351808354 | TGFBR2 | c.1007A>G (p.Tyr336Cys) n.2603A>G c.1082A>G (p.Tyr361Cys) c.1034A>G (p.Tyr345Cys) c.959A>G (p.Tyr320Cys) c.902A>G (p.Tyr301Cys) | |
| 3 | g.30672190A>T | CA351808355 | TGFBR2 | c.1007A>T (p.Tyr336Phe) n.2603A>T c.1082A>T (p.Tyr361Phe) c.1034A>T (p.Tyr345Phe) c.959A>T (p.Tyr320Phe) c.902A>T (p.Tyr301Phe) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672191C>A | CA351808356 | TGFBR2 | c.1008C>A (p.Tyr336Ter) n.2604C>A c.1083C>A (p.Tyr361Ter) c.1035C>A (p.Tyr345Ter) c.960C>A (p.Tyr320Ter) c.903C>A (p.Tyr301Ter) | |
| 3 | g.30672191C= | CA1354873175 | TGFBR2 | c.1008C= (p.Tyr336=) n.2604C= c.1083C= (p.Tyr361=) c.1035C= (p.Tyr345=) c.960C= (p.Tyr320=) c.903C= (p.Tyr301=) | |
| 3 | g.30672191C>G | CA351808357 | TGFBR2 | c.1008C>G (p.Tyr336Ter) n.2604C>G c.1083C>G (p.Tyr361Ter) c.1035C>G (p.Tyr345Ter) c.960C>G (p.Tyr320Ter) c.903C>G (p.Tyr301Ter) | |
| 3 | g.30672191C>T | CA045334 | TGFBR2 | c.1008C>T (p.Tyr336=) n.2604C>T c.1083C>T (p.Tyr361=) c.1035C>T (p.Tyr345=) c.960C>T (p.Tyr320=) c.903C>T (p.Tyr301=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672192C>A | CA351808358 | TGFBR2 | c.1009C>A (p.Leu337Met) n.2605C>A c.1084C>A (p.Leu362Met) c.1036C>A (p.Leu346Met) c.961C>A (p.Leu321Met) c.904C>A (p.Leu302Met) | |
| 3 | g.30672192C>G | CA351808359 | TGFBR2 | c.1009C>G (p.Leu337Val) n.2605C>G c.1084C>G (p.Leu362Val) c.1036C>G (p.Leu346Val) c.961C>G (p.Leu321Val) c.904C>G (p.Leu302Val) | |
| 3 | g.30672192C>T | CA433058987 | TGFBR2 | c.1009C>T (p.Leu337=) n.2605C>T c.1084C>T (p.Leu362=) c.1036C>T (p.Leu346=) c.961C>T (p.Leu321=) c.904C>T (p.Leu302=) | dbSNP |
| 3 | g.30672193T>A | CA351808360 | TGFBR2 | c.1010T>A (p.Leu337Gln) n.2606T>A c.1085T>A (p.Leu362Gln) c.1037T>A (p.Leu346Gln) c.962T>A (p.Leu321Gln) c.905T>A (p.Leu302Gln) | |
| 3 | g.30672193T>C | CA351808361 | TGFBR2 | c.1010T>C (p.Leu337Pro) n.2606T>C c.1085T>C (p.Leu362Pro) c.1037T>C (p.Leu346Pro) c.962T>C (p.Leu321Pro) c.905T>C (p.Leu302Pro) | |
| 3 | g.30672193T>G | CA351808362 | TGFBR2 | c.1010T>G (p.Leu337Arg) n.2606T>G c.1085T>G (p.Leu362Arg) c.1037T>G (p.Leu346Arg) c.962T>G (p.Leu321Arg) c.905T>G (p.Leu302Arg) | |
| 3 | g.30672194G>A | CA433058988 | TGFBR2 | c.1011G>A (p.Leu337=) n.2607G>A c.1086G>A (p.Leu362=) c.1038G>A (p.Leu346=) c.963G>A (p.Leu321=) c.906G>A (p.Leu302=) | |
| 3 | g.30672194G>C | CA433058989 | TGFBR2 | c.1011G>C (p.Leu337=) n.2607G>C c.1086G>C (p.Leu362=) c.1038G>C (p.Leu346=) c.963G>C (p.Leu321=) c.906G>C (p.Leu302=) | |
| 3 | g.30672194G>T | CA433058990 | TGFBR2 | c.1011G>T (p.Leu337=) n.2607G>T c.1086G>T (p.Leu362=) c.1038G>T (p.Leu346=) c.963G>T (p.Leu321=) c.906G>T (p.Leu302=) | |
| 3 | g.30672195A>C | CA351808363 | TGFBR2 | c.1012A>C (p.Thr338Pro) n.2608A>C c.1087A>C (p.Thr363Pro) c.1039A>C (p.Thr347Pro) c.964A>C (p.Thr322Pro) c.907A>C (p.Thr303Pro) | |
| 3 | g.30672195A>G | CA351808364 | TGFBR2 | c.1012A>G (p.Thr338Ala) n.2608A>G c.1087A>G (p.Thr363Ala) c.1039A>G (p.Thr347Ala) c.964A>G (p.Thr322Ala) c.907A>G (p.Thr303Ala) | |
| 3 | g.30672195A>T | CA351808365 | TGFBR2 | c.1012A>T (p.Thr338Ser) n.2608A>T c.1087A>T (p.Thr363Ser) c.1039A>T (p.Thr347Ser) c.964A>T (p.Thr322Ser) c.907A>T (p.Thr303Ser) | |
| 3 | g.30672196C>A | CA71528554 | TGFBR2 | c.1013C>A (p.Thr338Lys) n.2609C>A c.1088C>A (p.Thr363Lys) c.1040C>A (p.Thr347Lys) c.965C>A (p.Thr322Lys) c.908C>A (p.Thr303Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672196C= | CA1354873176 | TGFBR2 | c.1013C= (p.Thr338=) n.2609C= c.1088C= (p.Thr363=) c.1040C= (p.Thr347=) c.965C= (p.Thr322=) c.908C= (p.Thr303=) | |
| 3 | g.30672196C>G | CA351808366 | TGFBR2 | c.1013C>G (p.Thr338Arg) n.2609C>G c.1088C>G (p.Thr363Arg) c.1040C>G (p.Thr347Arg) c.965C>G (p.Thr322Arg) c.908C>G (p.Thr303Arg) | dbSNP gnomAD v4 |
| 3 | g.30672196C>T | CA71528567 | TGFBR2 | c.1013C>T (p.Thr338Met) n.2609C>T c.1088C>T (p.Thr363Met) c.1040C>T (p.Thr347Met) c.965C>T (p.Thr322Met) c.908C>T (p.Thr303Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672197G>A | CA045348 | TGFBR2 | c.1014G>A (p.Thr338=) n.2610G>A c.1089G>A (p.Thr363=) c.1041G>A (p.Thr347=) c.966G>A (p.Thr322=) c.909G>A (p.Thr303=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672197G>C | CA433058991 | TGFBR2 | c.1014G>C (p.Thr338=) n.2610G>C c.1089G>C (p.Thr363=) c.1041G>C (p.Thr347=) c.966G>C (p.Thr322=) c.909G>C (p.Thr303=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672197G= | CA1354873177 | TGFBR2 | c.1014G= (p.Thr338=) n.2610G= c.1089G= (p.Thr363=) c.1041G= (p.Thr347=) c.966G= (p.Thr322=) c.909G= (p.Thr303=) | |
| 3 | g.30672197G>T | CA045362 | TGFBR2 | c.1014G>T (p.Thr338=) n.2610G>T c.1089G>T (p.Thr363=) c.1041G>T (p.Thr347=) c.966G>T (p.Thr322=) c.909G>T (p.Thr303=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672198C>A | CA71528585 | TGFBR2 | c.1015C>A (p.Arg339=) n.2611C>A c.1090C>A (p.Arg364=) c.1042C>A (p.Arg348=) c.967C>A (p.Arg323=) c.910C>A (p.Arg304=) | dbSNP |
| 3 | g.30672198C= | CA1354873178 | TGFBR2 | c.1015C= (p.Arg339=) n.2611C= c.1090C= (p.Arg364=) c.1042C= (p.Arg348=) c.967C= (p.Arg323=) c.910C= (p.Arg304=) | |
| 3 | g.30672198C>G | CA351808367 | TGFBR2 | c.1015C>G (p.Arg339Gly) n.2611C>G c.1090C>G (p.Arg364Gly) c.1042C>G (p.Arg348Gly) c.967C>G (p.Arg323Gly) c.910C>G (p.Arg304Gly) | gnomAD v4 |
| 3 | g.30672198C>T | CA045395 | TGFBR2 | c.1015C>T (p.Arg339Trp) n.2611C>T c.1090C>T (p.Arg364Trp) c.1042C>T (p.Arg348Trp) c.967C>T (p.Arg323Trp) c.910C>T (p.Arg304Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672199G>A | CA045405 | TGFBR2 | c.1016G>A (p.Arg339Gln) n.2612G>A c.1091G>A (p.Arg364Gln) c.1043G>A (p.Arg348Gln) c.968G>A (p.Arg323Gln) c.911G>A (p.Arg304Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672199G>C | CA020579 | TGFBR2 | c.1016G>C (p.Arg339Pro) n.2612G>C c.1091G>C (p.Arg364Pro) c.1043G>C (p.Arg348Pro) c.968G>C (p.Arg323Pro) c.911G>C (p.Arg304Pro) | ClinVar dbSNP |
| 3 | g.30672199G= | CA1354873179 | TGFBR2 | c.1016G= (p.Arg339=) n.2612G= c.1091G= (p.Arg364=) c.1043G= (p.Arg348=) c.968G= (p.Arg323=) c.911G= (p.Arg304=) | |
| 3 | g.30672199G>T | CA323392 | TGFBR2 | c.1016G>T (p.Arg339Leu) n.2612G>T c.1091G>T (p.Arg364Leu) c.1043G>T (p.Arg348Leu) c.968G>T (p.Arg323Leu) c.911G>T (p.Arg304Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.30672200G>A | CA433058995 | TGFBR2 | c.1017G>A (p.Arg339=) n.2613G>A c.1092G>A (p.Arg364=) c.1044G>A (p.Arg348=) c.969G>A (p.Arg323=) c.912G>A (p.Arg304=) | dbSNP COSMIC |
| 3 | g.30672200G>C | CA433058997 | TGFBR2 | c.1017G>C (p.Arg339=) n.2613G>C c.1092G>C (p.Arg364=) c.1044G>C (p.Arg348=) c.969G>C (p.Arg323=) c.912G>C (p.Arg304=) | dbSNP |
| 3 | g.30672200G= | CA1354873180 | TGFBR2 | c.1017G= (p.Arg339=) n.2613G= c.1092G= (p.Arg364=) c.1044G= (p.Arg348=) c.969G= (p.Arg323=) c.912G= (p.Arg304=) | |
| 3 | g.30672200G>T | CA433058999 | TGFBR2 | c.1017G>T (p.Arg339=) n.2613G>T c.1092G>T (p.Arg364=) c.1044G>T (p.Arg348=) c.969G>T (p.Arg323=) c.912G>T (p.Arg304=) | dbSNP |
| 3 | g.30672201C>A | CA351808368 | TGFBR2 | c.1018C>A (p.His340Asn) n.2614C>A c.1093C>A (p.His365Asn) c.1045C>A (p.His349Asn) c.970C>A (p.His324Asn) c.913C>A (p.His305Asn) | |
| 3 | g.30672201C>G | CA351808369 | TGFBR2 | c.1018C>G (p.His340Asp) n.2614C>G c.1093C>G (p.His365Asp) c.1045C>G (p.His349Asp) c.970C>G (p.His324Asp) c.913C>G (p.His305Asp) | |
| 3 | g.30672201C>T | CA351808370 | TGFBR2 | c.1018C>T (p.His340Tyr) n.2614C>T c.1093C>T (p.His365Tyr) c.1045C>T (p.His349Tyr) c.970C>T (p.His324Tyr) c.913C>T (p.His305Tyr) | dbSNP |
| 3 | g.30672202A= | CA1354873181 | TGFBR2 | c.1019A= (p.His340=) n.2615A= c.1094A= (p.His365=) c.1046A= (p.His349=) c.971A= (p.His324=) c.914A= (p.His305=) | |
| 3 | g.30672202A>C | CA351808371 | TGFBR2 | c.1019A>C (p.His340Pro) n.2615A>C c.1094A>C (p.His365Pro) c.1046A>C (p.His349Pro) c.971A>C (p.His324Pro) c.914A>C (p.His305Pro) | |
| 3 | g.30672202A>G | CA351808372 | TGFBR2 | c.1019A>G (p.His340Arg) n.2615A>G c.1094A>G (p.His365Arg) c.1046A>G (p.His349Arg) c.971A>G (p.His324Arg) c.914A>G (p.His305Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30672202A>T | CA351808373 | TGFBR2 | c.1019A>T (p.His340Leu) n.2615A>T c.1094A>T (p.His365Leu) c.1046A>T (p.His349Leu) c.971A>T (p.His324Leu) c.914A>T (p.His305Leu) | |
| 3 | g.30672203T>A | CA351808374 | TGFBR2 | c.1020T>A (p.His340Gln) n.2616T>A c.1095T>A (p.His365Gln) c.1047T>A (p.His349Gln) c.972T>A (p.His324Gln) c.915T>A (p.His305Gln) | |
| 3 | g.30672203T>C | CA433059003 | TGFBR2 | c.1020T>C (p.His340=) n.2616T>C c.1095T>C (p.His365=) c.1047T>C (p.His349=) c.972T>C (p.His324=) c.915T>C (p.His305=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672203T>G | CA351808375 | TGFBR2 | c.1020T>G (p.His340Gln) n.2616T>G c.1095T>G (p.His365Gln) c.1047T>G (p.His349Gln) c.972T>G (p.His324Gln) c.915T>G (p.His305Gln) | |
| 3 | g.30672203T= | CA1354873182 | TGFBR2 | c.1020T= (p.His340=) n.2616T= c.1095T= (p.His365=) c.1047T= (p.His349=) c.972T= (p.His324=) c.915T= (p.His305=) | |
| 3 | g.30672204G>A | CA351808376 | TGFBR2 | c.1021G>A (p.Val341Ile) n.2617G>A c.1096G>A (p.Val366Ile) c.1048G>A (p.Val350Ile) c.973G>A (p.Val325Ile) c.916G>A (p.Val306Ile) | dbSNP |
| 3 | g.30672204G>C | CA351808377 | TGFBR2 | c.1021G>C (p.Val341Leu) n.2617G>C c.1096G>C (p.Val366Leu) c.1048G>C (p.Val350Leu) c.973G>C (p.Val325Leu) c.916G>C (p.Val306Leu) | ClinVar |
| 3 | g.30672204G>T | CA351808378 | TGFBR2 | c.1021G>T (p.Val341Phe) n.2617G>T c.1096G>T (p.Val366Phe) c.1048G>T (p.Val350Phe) c.973G>T (p.Val325Phe) c.916G>T (p.Val306Phe) | |
| 3 | g.30672205T>A | CA351808381 | TGFBR2 | c.1022T>A (p.Val341Asp) n.2618T>A c.1097T>A (p.Val366Asp) c.1049T>A (p.Val350Asp) c.974T>A (p.Val325Asp) c.917T>A (p.Val306Asp) | dbSNP |
| 3 | g.30672205T>C | CA351808380 | TGFBR2 | c.1022T>C (p.Val341Ala) n.2618T>C c.1097T>C (p.Val366Ala) c.1049T>C (p.Val350Ala) c.974T>C (p.Val325Ala) c.917T>C (p.Val306Ala) | |
| 3 | g.30672205T>G | CA351808379 | TGFBR2 | c.1022T>G (p.Val341Gly) n.2618T>G c.1097T>G (p.Val366Gly) c.1049T>G (p.Val350Gly) c.974T>G (p.Val325Gly) c.917T>G (p.Val306Gly) | dbSNP |
| 3 | g.30672206C>A | CA433059005 | TGFBR2 | c.1023C>A (p.Val341=) n.2619C>A c.1098C>A (p.Val366=) c.1050C>A (p.Val350=) c.975C>A (p.Val325=) c.918C>A (p.Val306=) | dbSNP |
| 3 | g.30672206C>G | CA433059006 | TGFBR2 | c.1023C>G (p.Val341=) n.2619C>G c.1098C>G (p.Val366=) c.1050C>G (p.Val350=) c.975C>G (p.Val325=) c.918C>G (p.Val306=) | |
| 3 | g.30672206C>T | CA433059007 | TGFBR2 | c.1023C>T (p.Val341=) n.2619C>T c.1098C>T (p.Val366=) c.1050C>T (p.Val350=) c.975C>T (p.Val325=) c.918C>T (p.Val306=) | dbSNP gnomAD v4 |
| 3 | g.30672207A= | CA1354873183 | TGFBR2 | c.1024A= (p.Ile342=) n.2620A= c.1099A= (p.Ile367=) c.1051A= (p.Ile351=) c.976A= (p.Ile326=) c.919A= (p.Ile307=) | |
| 3 | g.30672207A>C | CA351808382 | TGFBR2 | c.1024A>C (p.Ile342Leu) n.2620A>C c.1099A>C (p.Ile367Leu) c.1051A>C (p.Ile351Leu) c.976A>C (p.Ile326Leu) c.919A>C (p.Ile307Leu) | |
| 3 | g.30672207A>G | CA351808383 | TGFBR2 | c.1024A>G (p.Ile342Val) n.2620A>G c.1099A>G (p.Ile367Val) c.1051A>G (p.Ile351Val) c.976A>G (p.Ile326Val) c.919A>G (p.Ile307Val) | |
| 3 | g.30672207A>T | CA045424 | TGFBR2 | c.1024A>T (p.Ile342Phe) n.2620A>T c.1099A>T (p.Ile367Phe) c.1051A>T (p.Ile351Phe) c.976A>T (p.Ile326Phe) c.919A>T (p.Ile307Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672207dup | CA2586965654 | TGFBR2 | c.1024dup (p.Ile342AsnfsTer23) n.2620dup c.1099dup (p.Ile367AsnfsTer23) c.1051dup (p.Ile351AsnfsTer23) c.976dup (p.Ile326AsnfsTer23) c.919dup (p.Ile307AsnfsTer23) | |
| 3 | g.30672208T>A | CA351808384 | TGFBR2 | c.1025T>A (p.Ile342Asn) n.2621T>A c.1100T>A (p.Ile367Asn) c.1052T>A (p.Ile351Asn) c.977T>A (p.Ile326Asn) c.920T>A (p.Ile307Asn) | |
| 3 | g.30672208T>C | CA351808385 | TGFBR2 | c.1025T>C (p.Ile342Thr) n.2621T>C c.1100T>C (p.Ile367Thr) c.1052T>C (p.Ile351Thr) c.977T>C (p.Ile326Thr) c.920T>C (p.Ile307Thr) | |
| 3 | g.30672208T>G | CA351808386 | TGFBR2 | c.1025T>G (p.Ile342Ser) n.2621T>G c.1100T>G (p.Ile367Ser) c.1052T>G (p.Ile351Ser) c.977T>G (p.Ile326Ser) c.920T>G (p.Ile307Ser) | |
| 3 | g.30672209C>A | CA433059009 | TGFBR2 | c.1026C>A (p.Ile342=) n.2622C>A c.1101C>A (p.Ile367=) c.1053C>A (p.Ile351=) c.978C>A (p.Ile326=) c.921C>A (p.Ile307=) | dbSNP |
| 3 | g.30672209C>G | CA351808387 | TGFBR2 | c.1026C>G (p.Ile342Met) n.2622C>G c.1101C>G (p.Ile367Met) c.1053C>G (p.Ile351Met) c.978C>G (p.Ile326Met) c.921C>G (p.Ile307Met) | |
| 3 | g.30672209C>T | CA433059010 | TGFBR2 | c.1026C>T (p.Ile342=) n.2622C>T c.1101C>T (p.Ile367=) c.1053C>T (p.Ile351=) c.978C>T (p.Ile326=) c.921C>T (p.Ile307=) | |
| 3 | g.30672210A= | CA1354873184 | TGFBR2 | c.1027A= (p.Ser343=) n.2623A= c.1102A= (p.Ser368=) c.1054A= (p.Ser352=) c.979A= (p.Ser327=) c.922A= (p.Ser308=) | |
| 3 | g.30672210A>C | CA351808388 | TGFBR2 | c.1027A>C (p.Ser343Arg) n.2623A>C c.1102A>C (p.Ser368Arg) c.1054A>C (p.Ser352Arg) c.979A>C (p.Ser327Arg) c.922A>C (p.Ser308Arg) | |
| 3 | g.30672210A>G | CA045437 | TGFBR2 | c.1027A>G (p.Ser343Gly) n.2623A>G c.1102A>G (p.Ser368Gly) c.1054A>G (p.Ser352Gly) c.979A>G (p.Ser327Gly) c.922A>G (p.Ser308Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672210A>T | CA351808389 | TGFBR2 | c.1027A>T (p.Ser343Cys) n.2623A>T c.1102A>T (p.Ser368Cys) c.1054A>T (p.Ser352Cys) c.979A>T (p.Ser327Cys) c.922A>T (p.Ser308Cys) | |
| 3 | g.30672211G>A | CA351808390 | TGFBR2 | c.1028G>A (p.Ser343Asn) n.2624G>A c.1103G>A (p.Ser368Asn) c.1055G>A (p.Ser352Asn) c.980G>A (p.Ser327Asn) c.923G>A (p.Ser308Asn) | dbSNP |
| 3 | g.30672211G>C | CA351808391 | TGFBR2 | c.1028G>C (p.Ser343Thr) n.2624G>C c.1103G>C (p.Ser368Thr) c.1055G>C (p.Ser352Thr) c.980G>C (p.Ser327Thr) c.923G>C (p.Ser308Thr) | |
| 3 | g.30672211G= | CA1354873185 | TGFBR2 | c.1028G= (p.Ser343=) n.2624G= c.1103G= (p.Ser368=) c.1055G= (p.Ser352=) c.980G= (p.Ser327=) c.923G= (p.Ser308=) | |
| 3 | g.30672211G>T | CA351808392 | TGFBR2 | c.1028G>T (p.Ser343Ile) n.2624G>T c.1103G>T (p.Ser368Ile) c.1055G>T (p.Ser352Ile) c.980G>T (p.Ser327Ile) c.923G>T (p.Ser308Ile) | dbSNP |
| 3 | g.30672212C>A | CA351808393 | TGFBR2 | c.1029C>A (p.Ser343Arg) n.2625C>A c.1104C>A (p.Ser368Arg) c.1056C>A (p.Ser352Arg) c.981C>A (p.Ser327Arg) c.924C>A (p.Ser308Arg) | |
| 3 | g.30672212C= | CA1354873186 | TGFBR2 | c.1029C= (p.Ser343=) n.2625C= c.1104C= (p.Ser368=) c.1056C= (p.Ser352=) c.981C= (p.Ser327=) c.924C= (p.Ser308=) | |
| 3 | g.30672212C>G | CA351808394 | TGFBR2 | c.1029C>G (p.Ser343Arg) n.2625C>G c.1104C>G (p.Ser368Arg) c.1056C>G (p.Ser352Arg) c.981C>G (p.Ser327Arg) c.924C>G (p.Ser308Arg) | |
| 3 | g.30672212C>T | CA16611183 | TGFBR2 | c.1029C>T (p.Ser343=) n.2625C>T c.1104C>T (p.Ser368=) c.1056C>T (p.Ser352=) c.981C>T (p.Ser327=) c.924C>T (p.Ser308=) | ClinVar dbSNP |
| 3 | g.30672213T>A | CA351808395 | TGFBR2 | c.1030T>A (p.Trp344Arg) n.2626T>A c.1105T>A (p.Trp369Arg) c.1057T>A (p.Trp353Arg) c.982T>A (p.Trp328Arg) c.925T>A (p.Trp309Arg) | |
| 3 | g.30672213T>C | CA351808397 | TGFBR2 | c.1030T>C (p.Trp344Arg) n.2626T>C c.1105T>C (p.Trp369Arg) c.1057T>C (p.Trp353Arg) c.982T>C (p.Trp328Arg) c.925T>C (p.Trp309Arg) | |
| 3 | g.30672213T>G | CA351808396 | TGFBR2 | c.1030T>G (p.Trp344Gly) n.2626T>G c.1105T>G (p.Trp369Gly) c.1057T>G (p.Trp353Gly) c.982T>G (p.Trp328Gly) c.925T>G (p.Trp309Gly) | |
| 3 | g.30672213_30672219delinsTGGGAGG | CA1354873187 | TGFBR2 | c.1030_1036delinsTGGGAGG (p.Trp344=) n.2626_2632delinsTGGGAGG c.1105_1111delinsTGGGAGG (p.Trp369=) c.1057_1063delinsTGGGAGG (p.Trp353=) c.982_988delinsTGGGAGG (p.Trp328=) c.925_931delinsTGGGAGG (p.Trp309=) | |
| 3 | g.30672214G>A | CA351808398 | TGFBR2 | c.1031G>A (p.Trp344Ter) n.2627G>A c.1106G>A (p.Trp369Ter) c.1058G>A (p.Trp353Ter) c.983G>A (p.Trp328Ter) c.926G>A (p.Trp309Ter) | |
| 3 | g.30672214G>C | CA351808399 | TGFBR2 | c.1031G>C (p.Trp344Ser) n.2627G>C c.1106G>C (p.Trp369Ser) c.1058G>C (p.Trp353Ser) c.983G>C (p.Trp328Ser) c.926G>C (p.Trp309Ser) | |
| 3 | g.30672214G>T | CA351808400 | TGFBR2 | c.1031G>T (p.Trp344Leu) n.2627G>T c.1106G>T (p.Trp369Leu) c.1058G>T (p.Trp353Leu) c.983G>T (p.Trp328Leu) c.926G>T (p.Trp309Leu) | |
| 3 | g.30672214_30672219del | CA1046447381 | TGFBR2 | c.1031_1036del (p.Trp344_Asp346delinsTyr) n.2627_2632del c.1106_1111del (p.Trp369_Asp371delinsTyr) c.1058_1063del (p.Trp353_Asp355delinsTyr) c.983_988del (p.Trp328_Asp330delinsTyr) c.926_931del (p.Trp309_Asp311delinsTyr) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30672215_30672219del | CA923726384 | TGFBR2 | c.1032_1036del (p.Trp344Ter) n.2628_2632del c.1107_1111del (p.Trp369Ter) c.1059_1063del (p.Trp353Ter) c.984_988del (p.Trp328Ter) c.927_931del (p.Trp309Ter) | |
| 3 | g.30672215G>A | CA351808401 | TGFBR2 | c.1032G>A (p.Trp344Ter) n.2628G>A c.1107G>A (p.Trp369Ter) c.1059G>A (p.Trp353Ter) c.984G>A (p.Trp328Ter) c.927G>A (p.Trp309Ter) | ClinVar gnomAD v4 |
| 3 | g.30672215G>C | CA351808402 | TGFBR2 | c.1032G>C (p.Trp344Cys) n.2628G>C c.1107G>C (p.Trp369Cys) c.1059G>C (p.Trp353Cys) c.984G>C (p.Trp328Cys) c.927G>C (p.Trp309Cys) | |
| 3 | g.30672215G>T | CA351808403 | TGFBR2 | c.1032G>T (p.Trp344Cys) n.2628G>T c.1107G>T (p.Trp369Cys) c.1059G>T (p.Trp353Cys) c.984G>T (p.Trp328Cys) c.927G>T (p.Trp309Cys) | |
| 3 | g.30672216G>A | CA351808404 | TGFBR2 | c.1033G>A (p.Glu345Lys) n.2629G>A c.1108G>A (p.Glu370Lys) c.1060G>A (p.Glu354Lys) c.985G>A (p.Glu329Lys) c.928G>A (p.Glu310Lys) | dbSNP |
| 3 | g.30672216G>C | CA351808405 | TGFBR2 | c.1033G>C (p.Glu345Gln) n.2629G>C c.1108G>C (p.Glu370Gln) c.1060G>C (p.Glu354Gln) c.985G>C (p.Glu329Gln) c.928G>C (p.Glu310Gln) | |
| 3 | g.30672216G>T | CA351808406 | TGFBR2 | c.1033G>T (p.Glu345Ter) n.2629G>T c.1108G>T (p.Glu370Ter) c.1060G>T (p.Glu354Ter) c.985G>T (p.Glu329Ter) c.928G>T (p.Glu310Ter) | |
| 3 | g.30672217A>C | CA351808408 | TGFBR2 | c.1034A>C (p.Glu345Ala) n.2630A>C c.1109A>C (p.Glu370Ala) c.1061A>C (p.Glu354Ala) c.986A>C (p.Glu329Ala) c.929A>C (p.Glu310Ala) | |
| 3 | g.30672217A>G | CA351808409 | TGFBR2 | c.1034A>G (p.Glu345Gly) n.2630A>G c.1109A>G (p.Glu370Gly) c.1061A>G (p.Glu354Gly) c.986A>G (p.Glu329Gly) c.929A>G (p.Glu310Gly) | dbSNP |
| 3 | g.30672217A>T | CA351808407 | TGFBR2 | c.1034A>T (p.Glu345Val) n.2630A>T c.1109A>T (p.Glu370Val) c.1061A>T (p.Glu354Val) c.986A>T (p.Glu329Val) c.929A>T (p.Glu310Val) | |
| 3 | g.30672218G>A | CA433059019 | TGFBR2 | c.1035G>A (p.Glu345=) n.2631G>A c.1110G>A (p.Glu370=) c.1062G>A (p.Glu354=) c.987G>A (p.Glu329=) c.930G>A (p.Glu310=) | dbSNP |
| 3 | g.30672218G>C | CA351808410 | TGFBR2 | c.1035G>C (p.Glu345Asp) n.2631G>C c.1110G>C (p.Glu370Asp) c.1062G>C (p.Glu354Asp) c.987G>C (p.Glu329Asp) c.930G>C (p.Glu310Asp) | |
| 3 | g.30672218G>T | CA351808411 | TGFBR2 | c.1035G>T (p.Glu345Asp) n.2631G>T c.1110G>T (p.Glu370Asp) c.1062G>T (p.Glu354Asp) c.987G>T (p.Glu329Asp) c.930G>T (p.Glu310Asp) | |
| 3 | g.30672219G>A | CA351808412 | TGFBR2 | c.1036G>A (p.Asp346Asn) n.2632G>A c.1111G>A (p.Asp371Asn) c.1063G>A (p.Asp355Asn) c.988G>A (p.Asp330Asn) c.931G>A (p.Asp311Asn) | dbSNP |
| 3 | g.30672219G>C | CA351808413 | TGFBR2 | c.1036G>C (p.Asp346His) n.2632G>C c.1111G>C (p.Asp371His) c.1063G>C (p.Asp355His) c.988G>C (p.Asp330His) c.931G>C (p.Asp311His) | |
| 3 | g.30672219G= | CA1354873188 | TGFBR2 | c.1036G= (p.Asp346=) n.2632G= c.1111G= (p.Asp371=) c.1063G= (p.Asp355=) c.988G= (p.Asp330=) c.931G= (p.Asp311=) | |
| 3 | g.30672219G>T | CA351808414 | TGFBR2 | c.1036G>T (p.Asp346Tyr) n.2632G>T c.1111G>T (p.Asp371Tyr) c.1063G>T (p.Asp355Tyr) c.988G>T (p.Asp330Tyr) c.931G>T (p.Asp311Tyr) | |
| 3 | g.30672219_30672220insCT | CA1046447392 | TGFBR2 | c.1036_1037insCT (p.Asp346AlafsTer?) n.2632_2633insCT c.1111_1112insCT (p.Asp371AlafsTer?) c.1063_1064insCT (p.Asp355AlafsTer?) c.988_989insCT (p.Asp330AlafsTer?) c.931_932insCT (p.Asp311AlafsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30672220A>C | CA351808415 | TGFBR2 | c.1037A>C (p.Asp346Ala) n.2633A>C c.1112A>C (p.Asp371Ala) c.1064A>C (p.Asp355Ala) c.989A>C (p.Asp330Ala) c.932A>C (p.Asp311Ala) | |
| 3 | g.30672220A>G | CA351808416 | TGFBR2 | c.1037A>G (p.Asp346Gly) n.2633A>G c.1112A>G (p.Asp371Gly) c.1064A>G (p.Asp355Gly) c.989A>G (p.Asp330Gly) c.932A>G (p.Asp311Gly) | dbSNP |
| 3 | g.30672220A>T | CA351808417 | TGFBR2 | c.1037A>T (p.Asp346Val) n.2633A>T c.1112A>T (p.Asp371Val) c.1064A>T (p.Asp355Val) c.989A>T (p.Asp330Val) c.932A>T (p.Asp311Val) | dbSNP |
| 3 | g.30672220_30672221delinsAC | CA1354873189 | TGFBR2 | c.1037_1038delinsAC (p.Asp346=) n.2633_2634delinsAC c.1112_1113delinsAC (p.Asp371=) c.1064_1065delinsAC (p.Asp355=) c.989_990delinsAC (p.Asp330=) c.932_933delinsAC (p.Asp311=) | |
| 3 | g.30672221C>A | CA351808418 | TGFBR2 | c.1038C>A (p.Asp346Glu) n.2634C>A c.1113C>A (p.Asp371Glu) c.1065C>A (p.Asp355Glu) c.990C>A (p.Asp330Glu) c.933C>A (p.Asp311Glu) | dbSNP |
| 3 | g.30672221C>G | CA351808419 | TGFBR2 | c.1038C>G (p.Asp346Glu) n.2634C>G c.1113C>G (p.Asp371Glu) c.1065C>G (p.Asp355Glu) c.990C>G (p.Asp330Glu) c.933C>G (p.Asp311Glu) | dbSNP |
| 3 | g.30672221C>T | CA433059024 | TGFBR2 | c.1038C>T (p.Asp346=) n.2634C>T c.1113C>T (p.Asp371=) c.1065C>T (p.Asp355=) c.990C>T (p.Asp330=) c.933C>T (p.Asp311=) | dbSNP |
| 3 | g.30672222del | CA913188059 | TGFBR2 | c.1039del (p.Leu347CysfsTer?) n.2635del c.1114del (p.Leu372CysfsTer?) c.1066del (p.Leu356CysfsTer?) c.991del (p.Leu331CysfsTer?) c.934del (p.Leu312CysfsTer?) | ClinVar dbSNP |
| 3 | g.30672222C>A | CA351808420 | TGFBR2 | c.1039C>A (p.Leu347Met) n.2635C>A c.1114C>A (p.Leu372Met) c.1066C>A (p.Leu356Met) c.991C>A (p.Leu331Met) c.934C>A (p.Leu312Met) | |
| 3 | g.30672222C= | CA1354873190 | TGFBR2 | c.1039C= (p.Leu347=) n.2635C= c.1114C= (p.Leu372=) c.1066C= (p.Leu356=) c.991C= (p.Leu331=) c.934C= (p.Leu312=) | |
| 3 | g.30672222C>G | CA351808421 | TGFBR2 | c.1039C>G (p.Leu347Val) n.2635C>G c.1114C>G (p.Leu372Val) c.1066C>G (p.Leu356Val) c.991C>G (p.Leu331Val) c.934C>G (p.Leu312Val) | |
| 3 | g.30672222C>T | CA433059025 | TGFBR2 | c.1039C>T (p.Leu347=) n.2635C>T c.1114C>T (p.Leu372=) c.1066C>T (p.Leu356=) c.991C>T (p.Leu331=) c.934C>T (p.Leu312=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672223T>A | CA351808423 | TGFBR2 | c.1040T>A (p.Leu347Gln) n.2636T>A c.1115T>A (p.Leu372Gln) c.1067T>A (p.Leu356Gln) c.992T>A (p.Leu331Gln) c.935T>A (p.Leu312Gln) | ClinVar |
| 3 | g.30672223T>C | CA351808424 | TGFBR2 | c.1040T>C (p.Leu347Pro) n.2636T>C c.1115T>C (p.Leu372Pro) c.1067T>C (p.Leu356Pro) c.992T>C (p.Leu331Pro) c.935T>C (p.Leu312Pro) | |
| 3 | g.30672223T>G | CA351808422 | TGFBR2 | c.1040T>G (p.Leu347Arg) n.2636T>G c.1115T>G (p.Leu372Arg) c.1067T>G (p.Leu356Arg) c.992T>G (p.Leu331Arg) c.935T>G (p.Leu312Arg) | |
| 3 | g.30672224G>A | CA433059027 | TGFBR2 | c.1041G>A (p.Leu347=) n.2637G>A c.1116G>A (p.Leu372=) c.1068G>A (p.Leu356=) c.993G>A (p.Leu331=) c.936G>A (p.Leu312=) | |
| 3 | g.30672224G>C | CA433059029 | TGFBR2 | c.1041G>C (p.Leu347=) n.2637G>C c.1116G>C (p.Leu372=) c.1068G>C (p.Leu356=) c.993G>C (p.Leu331=) c.936G>C (p.Leu312=) | gnomAD v4 |
| 3 | g.30672224G>T | CA433059031 | TGFBR2 | c.1041G>T (p.Leu347=) n.2637G>T c.1116G>T (p.Leu372=) c.1068G>T (p.Leu356=) c.993G>T (p.Leu331=) c.936G>T (p.Leu312=) | |
| 3 | g.30672225C>A | CA351808425 | TGFBR2 | c.1042C>A (p.Arg348Ser) n.2638C>A c.1117C>A (p.Arg373Ser) c.1069C>A (p.Arg357Ser) c.994C>A (p.Arg332Ser) c.937C>A (p.Arg313Ser) | |
| 3 | g.30672225C= | CA1354873191 | TGFBR2 | c.1042C= (p.Arg348=) n.2638C= c.1117C= (p.Arg373=) c.1069C= (p.Arg357=) c.994C= (p.Arg332=) c.937C= (p.Arg313=) | |
| 3 | g.30672225C>G | CA351808426 | TGFBR2 | c.1042C>G (p.Arg348Gly) n.2638C>G c.1117C>G (p.Arg373Gly) c.1069C>G (p.Arg357Gly) c.994C>G (p.Arg332Gly) c.937C>G (p.Arg313Gly) | dbSNP |
| 3 | g.30672225C>T | CA045456 | TGFBR2 | c.1042C>T (p.Arg348Cys) n.2638C>T c.1117C>T (p.Arg373Cys) c.1069C>T (p.Arg357Cys) c.994C>T (p.Arg332Cys) c.937C>T (p.Arg313Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672226G>A | CA045468 | TGFBR2 | c.1043G>A (p.Arg348His) n.2639G>A c.1118G>A (p.Arg373His) c.1070G>A (p.Arg357His) c.995G>A (p.Arg332His) c.938G>A (p.Arg313His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.30672226G>C | CA351808427 | TGFBR2 | c.1043G>C (p.Arg348Pro) n.2639G>C c.1118G>C (p.Arg373Pro) c.1070G>C (p.Arg357Pro) c.995G>C (p.Arg332Pro) c.938G>C (p.Arg313Pro) | dbSNP |
| 3 | g.30672226G= | CA1354873192 | TGFBR2 | c.1043G= (p.Arg348=) n.2639G= c.1118G= (p.Arg373=) c.1070G= (p.Arg357=) c.995G= (p.Arg332=) c.938G= (p.Arg313=) | |
| 3 | g.30672226G>T | CA351808428 | TGFBR2 | c.1043G>T (p.Arg348Leu) n.2639G>T c.1118G>T (p.Arg373Leu) c.1070G>T (p.Arg357Leu) c.995G>T (p.Arg332Leu) c.938G>T (p.Arg313Leu) | gnomAD v4 |
| 3 | g.30672227C>A | CA433059033 | TGFBR2 | c.1044C>A (p.Arg348=) n.2640C>A c.1119C>A (p.Arg373=) c.1071C>A (p.Arg357=) c.996C>A (p.Arg332=) c.939C>A (p.Arg313=) | dbSNP |
| 3 | g.30672227C>G | CA433059034 | TGFBR2 | c.1044C>G (p.Arg348=) n.2640C>G c.1119C>G (p.Arg373=) c.1071C>G (p.Arg357=) c.996C>G (p.Arg332=) c.939C>G (p.Arg313=) | dbSNP |
| 3 | g.30672227C>T | CA433059036 | TGFBR2 | c.1044C>T (p.Arg348=) n.2640C>T c.1119C>T (p.Arg373=) c.1071C>T (p.Arg357=) c.996C>T (p.Arg332=) c.939C>T (p.Arg313=) | ClinVar gnomAD v4 |
| 3 | g.30672228A>C | CA351808429 | TGFBR2 | c.1045A>C (p.Lys349Gln) n.2641A>C c.1120A>C (p.Lys374Gln) c.1072A>C (p.Lys358Gln) c.997A>C (p.Lys333Gln) c.940A>C (p.Lys314Gln) | |
| 3 | g.30672228A>G | CA351808431 | TGFBR2 | c.1045A>G (p.Lys349Glu) n.2641A>G c.1120A>G (p.Lys374Glu) c.1072A>G (p.Lys358Glu) c.997A>G (p.Lys333Glu) c.940A>G (p.Lys314Glu) | gnomAD v4 |
| 3 | g.30672228A>T | CA351808430 | TGFBR2 | c.1045A>T (p.Lys349Ter) n.2641A>T c.1120A>T (p.Lys374Ter) c.1072A>T (p.Lys358Ter) c.997A>T (p.Lys333Ter) c.940A>T (p.Lys314Ter) | |
| 3 | g.30672229A>C | CA351808432 | TGFBR2 | c.1046A>C (p.Lys349Thr) n.2642A>C c.1121A>C (p.Lys374Thr) c.1073A>C (p.Lys358Thr) c.998A>C (p.Lys333Thr) c.941A>C (p.Lys314Thr) | |
| 3 | g.30672229A>G | CA351808433 | TGFBR2 | c.1046A>G (p.Lys349Arg) n.2642A>G c.1121A>G (p.Lys374Arg) c.1073A>G (p.Lys358Arg) c.998A>G (p.Lys333Arg) c.941A>G (p.Lys314Arg) | |
| 3 | g.30672229A>T | CA351808434 | TGFBR2 | c.1046A>T (p.Lys349Met) n.2642A>T c.1121A>T (p.Lys374Met) c.1073A>T (p.Lys358Met) c.998A>T (p.Lys333Met) c.941A>T (p.Lys314Met) | |
| 3 | g.30672230G>A | CA433059037 | TGFBR2 | c.1047G>A (p.Lys349=) n.2643G>A c.1122G>A (p.Lys374=) c.1074G>A (p.Lys358=) c.999G>A (p.Lys333=) c.942G>A (p.Lys314=) | ClinVar dbSNP |
| 3 | g.30672230G>C | CA351808435 | TGFBR2 | c.1047G>C (p.Lys349Asn) n.2643G>C c.1122G>C (p.Lys374Asn) c.1074G>C (p.Lys358Asn) c.999G>C (p.Lys333Asn) c.942G>C (p.Lys314Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672230G>T | CA351808436 | TGFBR2 | c.1047G>T (p.Lys349Asn) n.2643G>T c.1122G>T (p.Lys374Asn) c.1074G>T (p.Lys358Asn) c.999G>T (p.Lys333Asn) c.942G>T (p.Lys314Asn) | |
| 3 | g.30672231C>A | CA351808437 | TGFBR2 | c.1048C>A (p.Leu350Met) n.2644C>A c.1123C>A (p.Leu375Met) c.1075C>A (p.Leu359Met) c.1000C>A (p.Leu334Met) c.943C>A (p.Leu315Met) | dbSNP gnomAD v4 |
| 3 | g.30672231C= | CA1354873193 | TGFBR2 | c.1048C= (p.Leu350=) n.2644C= c.1123C= (p.Leu375=) c.1075C= (p.Leu359=) c.1000C= (p.Leu334=) c.943C= (p.Leu315=) | |
| 3 | g.30672231C>G | CA351808438 | TGFBR2 | c.1048C>G (p.Leu350Val) n.2644C>G c.1123C>G (p.Leu375Val) c.1075C>G (p.Leu359Val) c.1000C>G (p.Leu334Val) c.943C>G (p.Leu315Val) | |
| 3 | g.30672231C>T | CA045484 | TGFBR2 | c.1048C>T (p.Leu350=) n.2644C>T c.1123C>T (p.Leu375=) c.1075C>T (p.Leu359=) c.1000C>T (p.Leu334=) c.943C>T (p.Leu315=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672232T>A | CA351808441 | TGFBR2 | c.1049T>A (p.Leu350Gln) n.2645T>A c.1124T>A (p.Leu375Gln) c.1076T>A (p.Leu359Gln) c.1001T>A (p.Leu334Gln) c.944T>A (p.Leu315Gln) | ClinVar gnomAD v4 |
| 3 | g.30672232T>C | CA351808439 | TGFBR2 | c.1049T>C (p.Leu350Pro) n.2645T>C c.1124T>C (p.Leu375Pro) c.1076T>C (p.Leu359Pro) c.1001T>C (p.Leu334Pro) c.944T>C (p.Leu315Pro) | COSMIC COSMIC |
| 3 | g.30672232T>G | CA351808440 | TGFBR2 | c.1049T>G (p.Leu350Arg) n.2645T>G c.1124T>G (p.Leu375Arg) c.1076T>G (p.Leu359Arg) c.1001T>G (p.Leu334Arg) c.944T>G (p.Leu315Arg) | |
| 3 | g.30672233G>A | CA433059041 | TGFBR2 | c.1050G>A (p.Leu350=) n.2646G>A c.1125G>A (p.Leu375=) c.1077G>A (p.Leu359=) c.1002G>A (p.Leu334=) c.945G>A (p.Leu315=) | dbSNP |
| 3 | g.30672233G>C | CA433059043 | TGFBR2 | c.1050G>C (p.Leu350=) n.2646G>C c.1125G>C (p.Leu375=) c.1077G>C (p.Leu359=) c.1002G>C (p.Leu334=) c.945G>C (p.Leu315=) | |
| 3 | g.30672233G>T | CA433059045 | TGFBR2 | c.1050G>T (p.Leu350=) n.2646G>T c.1125G>T (p.Leu375=) c.1077G>T (p.Leu359=) c.1002G>T (p.Leu334=) c.945G>T (p.Leu315=) |