UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.99132593T>A | CA322389 | TGFBR1 | c.221T>A (p.Leu74Ter) c.233T>A (p.Leu78Ter) c.136+3493T>A (n.136+3493T>A) c.*224T>A (n.*224T>A) c.428T>A (p.Leu143Ter) c.343+3493T>A (n.343+3493T>A) c.440T>A (p.Leu147Ter) | ClinVar dbSNP |
| 9 | g.99132593T>C | CA374228005 | TGFBR1 | c.221T>C (p.Leu74Ser) c.233T>C (p.Leu78Ser) c.136+3493T>C (n.136+3493T>C) c.*224T>C (n.*224T>C) c.428T>C (p.Leu143Ser) c.343+3493T>C (n.343+3493T>C) c.440T>C (p.Leu147Ser) | |
| 9 | g.99132593T>G | CA374228006 | TGFBR1 | c.221T>G (p.Leu74Trp) c.233T>G (p.Leu78Trp) c.136+3493T>G (n.136+3493T>G) c.*224T>G (n.*224T>G) c.428T>G (p.Leu143Trp) c.343+3493T>G (n.343+3493T>G) c.440T>G (p.Leu147Trp) | |
| 9 | g.99132593T= | CA1867274429 | TGFBR1 | c.221T= (p.Leu74=) c.233T= (p.Leu78=) c.136+3493T= (n.136+3493T=) c.*224T= (n.*224T=) c.428T= (p.Leu143=) c.343+3493T= (n.343+3493T=) c.440T= (p.Leu147=) | |
| 9 | g.99132594G>A | CA466648113 | TGFBR1 | c.222G>A (p.Leu74=) c.234G>A (p.Leu78=) c.136+3494G>A (n.136+3494G>A) c.*225G>A (n.*225G>A) c.429G>A (p.Leu143=) c.343+3494G>A (n.343+3494G>A) c.441G>A (p.Leu147=) | dbSNP gnomAD v4 |
| 9 | g.99132594G>C | CA374228009 | TGFBR1 | c.222G>C (p.Leu74Phe) c.234G>C (p.Leu78Phe) c.136+3494G>C (n.136+3494G>C) c.*225G>C (n.*225G>C) c.429G>C (p.Leu143Phe) c.343+3494G>C (n.343+3494G>C) c.441G>C (p.Leu147Phe) | gnomAD v4 |
| 9 | g.99132594G= | CA1867274431 | TGFBR1 | c.222G= (p.Leu74=) c.234G= (p.Leu78=) c.136+3494G= (n.136+3494G=) c.*225G= (n.*225G=) c.429G= (p.Leu143=) c.343+3494G= (n.343+3494G=) c.441G= (p.Leu147=) | |
| 9 | g.99132594G>T | CA374228010 | TGFBR1 | c.222G>T (p.Leu74Phe) c.234G>T (p.Leu78Phe) c.136+3494G>T (n.136+3494G>T) c.*225G>T (n.*225G>T) c.429G>T (p.Leu143Phe) c.343+3494G>T (n.343+3494G>T) c.441G>T (p.Leu147Phe) | |
| 9 | g.99132595A= | CA1867274437 | TGFBR1 | c.223A= (p.Met75=) c.235A= (p.Met79=) c.136+3495A= (n.136+3495A=) c.*226A= (n.*226A=) c.430A= (p.Met144=) c.343+3495A= (n.343+3495A=) c.442A= (p.Met148=) | |
| 9 | g.99132595A>C | CA374228011 | TGFBR1 | c.223A>C (p.Met75Leu) c.235A>C (p.Met79Leu) c.136+3495A>C (n.136+3495A>C) c.*226A>C (n.*226A>C) c.430A>C (p.Met144Leu) c.343+3495A>C (n.343+3495A>C) c.442A>C (p.Met148Leu) | |
| 9 | g.99132595A>G | CA374228013 | TGFBR1 | c.223A>G (p.Met75Val) c.235A>G (p.Met79Val) c.136+3495A>G (n.136+3495A>G) c.*226A>G (n.*226A>G) c.430A>G (p.Met144Val) c.343+3495A>G (n.343+3495A>G) c.442A>G (p.Met148Val) | ClinVar dbSNP |
| 9 | g.99132595A>T | CA374228015 | TGFBR1 | c.223A>T (p.Met75Leu) c.235A>T (p.Met79Leu) c.136+3495A>T (n.136+3495A>T) c.*226A>T (n.*226A>T) c.430A>T (p.Met144Leu) c.343+3495A>T (n.343+3495A>T) c.442A>T (p.Met148Leu) | gnomAD v4 |
| 9 | g.99132596T>A | CA374228016 | TGFBR1 | c.224T>A (p.Met75Lys) c.236T>A (p.Met79Lys) c.136+3496T>A (n.136+3496T>A) c.*227T>A (n.*227T>A) c.431T>A (p.Met144Lys) c.343+3496T>A (n.343+3496T>A) c.443T>A (p.Met148Lys) | |
| 9 | g.99132596T>C | CA374228018 | TGFBR1 | c.224T>C (p.Met75Thr) c.236T>C (p.Met79Thr) c.136+3496T>C (n.136+3496T>C) c.*227T>C (n.*227T>C) c.431T>C (p.Met144Thr) c.343+3496T>C (n.343+3496T>C) c.443T>C (p.Met148Thr) | |
| 9 | g.99132596T>G | CA374228019 | TGFBR1 | c.224T>G (p.Met75Arg) c.236T>G (p.Met79Arg) c.136+3496T>G (n.136+3496T>G) c.*227T>G (n.*227T>G) c.431T>G (p.Met144Arg) c.343+3496T>G (n.343+3496T>G) c.443T>G (p.Met148Arg) | |
| 9 | g.99132597G>A | CA374228022 | TGFBR1 | c.225G>A (p.Met75Ile) c.237G>A (p.Met79Ile) c.136+3497G>A (n.136+3497G>A) c.*228G>A (n.*228G>A) c.432G>A (p.Met144Ile) c.343+3497G>A (n.343+3497G>A) c.444G>A (p.Met148Ile) | |
| 9 | g.99132597G>C | CA374228023 | TGFBR1 | c.225G>C (p.Met75Ile) c.237G>C (p.Met79Ile) c.136+3497G>C (n.136+3497G>C) c.*228G>C (n.*228G>C) c.432G>C (p.Met144Ile) c.343+3497G>C (n.343+3497G>C) c.444G>C (p.Met148Ile) | |
| 9 | g.99132597G>T | CA374228025 | TGFBR1 | c.225G>T (p.Met75Ile) c.237G>T (p.Met79Ile) c.136+3497G>T (n.136+3497G>T) c.*228G>T (n.*228G>T) c.432G>T (p.Met144Ile) c.343+3497G>T (n.343+3497G>T) c.444G>T (p.Met148Ile) | |
| 9 | g.99132598G>A | CA374228028 | TGFBR1 | c.226G>A (p.Val76Ile) c.238G>A (p.Val80Ile) c.136+3498G>A (n.136+3498G>A) c.*229G>A (n.*229G>A) c.433G>A (p.Val145Ile) c.343+3498G>A (n.343+3498G>A) c.445G>A (p.Val149Ile) | |
| 9 | g.99132598G>C | CA374228030 | TGFBR1 | c.226G>C (p.Val76Leu) c.238G>C (p.Val80Leu) c.136+3498G>C (n.136+3498G>C) c.*229G>C (n.*229G>C) c.433G>C (p.Val145Leu) c.343+3498G>C (n.343+3498G>C) c.445G>C (p.Val149Leu) | |
| 9 | g.99132598G>T | CA374228027 | TGFBR1 | c.226G>T (p.Val76Phe) c.238G>T (p.Val80Phe) c.136+3498G>T (n.136+3498G>T) c.*229G>T (n.*229G>T) c.433G>T (p.Val145Phe) c.343+3498G>T (n.343+3498G>T) c.445G>T (p.Val149Phe) | gnomAD v4 |
| 9 | g.99132599T>A | CA374228031 | TGFBR1 | c.227T>A (p.Val76Asp) c.239T>A (p.Val80Asp) c.136+3499T>A (n.136+3499T>A) c.*230T>A (n.*230T>A) c.434T>A (p.Val145Asp) c.343+3499T>A (n.343+3499T>A) c.446T>A (p.Val149Asp) | |
| 9 | g.99132599T>C | CA374228033 | TGFBR1 | c.227T>C (p.Val76Ala) c.239T>C (p.Val80Ala) c.136+3499T>C (n.136+3499T>C) c.*230T>C (n.*230T>C) c.434T>C (p.Val145Ala) c.343+3499T>C (n.343+3499T>C) c.446T>C (p.Val149Ala) | |
| 9 | g.99132599T>G | CA042043 | TGFBR1 | c.227T>G (p.Val76Gly) c.239T>G (p.Val80Gly) c.136+3499T>G (n.136+3499T>G) c.*230T>G (n.*230T>G) c.434T>G (p.Val145Gly) c.343+3499T>G (n.343+3499T>G) c.446T>G (p.Val149Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99132599T= | CA1867274449 | TGFBR1 | c.227T= (p.Val76=) c.239T= (p.Val80=) c.136+3499T= (n.136+3499T=) c.*230T= (n.*230T=) c.434T= (p.Val145=) c.343+3499T= (n.343+3499T=) c.446T= (p.Val149=) | |
| 9 | g.99132600C>A | CA466648117 | TGFBR1 | c.228C>A (p.Val76=) c.240C>A (p.Val80=) c.136+3500C>A (n.136+3500C>A) c.*231C>A (n.*231C>A) c.435C>A (p.Val145=) c.343+3500C>A (n.343+3500C>A) c.447C>A (p.Val149=) | |
| 9 | g.99132600C= | CA1867274459 | TGFBR1 | c.228C= (p.Val76=) c.240C= (p.Val80=) c.136+3500C= (n.136+3500C=) c.*231C= (n.*231C=) c.435C= (p.Val145=) c.343+3500C= (n.343+3500C=) c.447C= (p.Val149=) | |
| 9 | g.99132600C>G | CA196885575 | TGFBR1 | c.228C>G (p.Val76=) c.240C>G (p.Val80=) c.136+3500C>G (n.136+3500C>G) c.*231C>G (n.*231C>G) c.435C>G (p.Val145=) c.343+3500C>G (n.343+3500C>G) c.447C>G (p.Val149=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99132600C>T | CA466648118 | TGFBR1 | c.228C>T (p.Val76=) c.240C>T (p.Val80=) c.136+3500C>T (n.136+3500C>T) c.*231C>T (n.*231C>T) c.435C>T (p.Val145=) c.343+3500C>T (n.343+3500C>T) c.447C>T (p.Val149=) | gnomAD v4 |
| 9 | g.99132601T>A | CA374228035 | TGFBR1 | c.229T>A (p.Tyr77Asn) c.241T>A (p.Tyr81Asn) c.136+3501T>A (n.136+3501T>A) c.*232T>A (n.*232T>A) c.436T>A (p.Tyr146Asn) c.343+3501T>A (n.343+3501T>A) c.448T>A (p.Tyr150Asn) | |
| 9 | g.99132601T>C | CA374228036 | TGFBR1 | c.229T>C (p.Tyr77His) c.241T>C (p.Tyr81His) c.136+3501T>C (n.136+3501T>C) c.*232T>C (n.*232T>C) c.436T>C (p.Tyr146His) c.343+3501T>C (n.343+3501T>C) c.448T>C (p.Tyr150His) | |
| 9 | g.99132601T>G | CA374228037 | TGFBR1 | c.229T>G (p.Tyr77Asp) c.241T>G (p.Tyr81Asp) c.136+3501T>G (n.136+3501T>G) c.*232T>G (n.*232T>G) c.436T>G (p.Tyr146Asp) c.343+3501T>G (n.343+3501T>G) c.448T>G (p.Tyr150Asp) | |
| 9 | g.99132602A>C | CA374228042 | TGFBR1 | c.230A>C (p.Tyr77Ser) c.242A>C (p.Tyr81Ser) c.136+3502A>C (n.136+3502A>C) c.*233A>C (n.*233A>C) c.437A>C (p.Tyr146Ser) c.343+3502A>C (n.343+3502A>C) c.449A>C (p.Tyr150Ser) | |
| 9 | g.99132602A>G | CA374228039 | TGFBR1 | c.230A>G (p.Tyr77Cys) c.242A>G (p.Tyr81Cys) c.136+3502A>G (n.136+3502A>G) c.*233A>G (n.*233A>G) c.437A>G (p.Tyr146Cys) c.343+3502A>G (n.343+3502A>G) c.449A>G (p.Tyr150Cys) | gnomAD v4 |
| 9 | g.99132602A>T | CA374228041 | TGFBR1 | c.230A>T (p.Tyr77Phe) c.242A>T (p.Tyr81Phe) c.136+3502A>T (n.136+3502A>T) c.*233A>T (n.*233A>T) c.437A>T (p.Tyr146Phe) c.343+3502A>T (n.343+3502A>T) c.449A>T (p.Tyr150Phe) | |
| 9 | g.99132603T>A | CA374228044 | TGFBR1 | c.231T>A (p.Tyr77Ter) c.243T>A (p.Tyr81Ter) c.136+3503T>A (n.136+3503T>A) c.*234T>A (n.*234T>A) c.438T>A (p.Tyr146Ter) c.343+3503T>A (n.343+3503T>A) c.450T>A (p.Tyr150Ter) | |
| 9 | g.99132603T>C | CA466648122 | TGFBR1 | c.231T>C (p.Tyr77=) c.243T>C (p.Tyr81=) c.136+3503T>C (n.136+3503T>C) c.*234T>C (n.*234T>C) c.438T>C (p.Tyr146=) c.343+3503T>C (n.343+3503T>C) c.450T>C (p.Tyr150=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99132603T>G | CA374228045 | TGFBR1 | c.231T>G (p.Tyr77Ter) c.243T>G (p.Tyr81Ter) c.136+3503T>G (n.136+3503T>G) c.*234T>G (n.*234T>G) c.438T>G (p.Tyr146Ter) c.343+3503T>G (n.343+3503T>G) c.450T>G (p.Tyr150Ter) | |
| 9 | g.99132603T= | CA1867274466 | TGFBR1 | c.231T= (p.Tyr77=) c.243T= (p.Tyr81=) c.136+3503T= (n.136+3503T=) c.*234T= (n.*234T=) c.438T= (p.Tyr146=) c.343+3503T= (n.343+3503T=) c.450T= (p.Tyr150=) | |
| 9 | g.99132604A= | CA1867274481 | TGFBR1 | c.232A= (p.Ile78=) c.244A= (p.Ile82=) c.136+3504A= (n.136+3504A=) c.*235A= (n.*235A=) c.439A= (p.Ile147=) c.343+3504A= (n.343+3504A=) c.451A= (p.Ile151=) | |
| 9 | g.99132604A>C | CA374228047 | TGFBR1 | c.232A>C (p.Ile78Leu) c.244A>C (p.Ile82Leu) c.136+3504A>C (n.136+3504A>C) c.*235A>C (n.*235A>C) c.439A>C (p.Ile147Leu) c.343+3504A>C (n.343+3504A>C) c.451A>C (p.Ile151Leu) | |
| 9 | g.99132604A>G | CA042056 | TGFBR1 | c.232A>G (p.Ile78Val) c.244A>G (p.Ile82Val) c.136+3504A>G (n.136+3504A>G) c.*235A>G (n.*235A>G) c.439A>G (p.Ile147Val) c.343+3504A>G (n.343+3504A>G) c.451A>G (p.Ile151Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.99132604A>T | CA374228049 | TGFBR1 | c.232A>T (p.Ile78Phe) c.244A>T (p.Ile82Phe) c.136+3504A>T (n.136+3504A>T) c.*235A>T (n.*235A>T) c.439A>T (p.Ile147Phe) c.343+3504A>T (n.343+3504A>T) c.451A>T (p.Ile151Phe) | |
| 9 | g.99132605T>A | CA374228050 | TGFBR1 | c.233T>A (p.Ile78Asn) c.245T>A (p.Ile82Asn) c.136+3505T>A (n.136+3505T>A) c.*236T>A (n.*236T>A) c.440T>A (p.Ile147Asn) c.343+3505T>A (n.343+3505T>A) c.452T>A (p.Ile151Asn) | |
| 9 | g.99132605T>C | CA196885591 | TGFBR1 | c.233T>C (p.Ile78Thr) c.245T>C (p.Ile82Thr) c.136+3505T>C (n.136+3505T>C) c.*236T>C (n.*236T>C) c.440T>C (p.Ile147Thr) c.343+3505T>C (n.343+3505T>C) c.452T>C (p.Ile151Thr) | dbSNP gnomAD v2 |
| 9 | g.99132605T>G | CA374228051 | TGFBR1 | c.233T>G (p.Ile78Ser) c.245T>G (p.Ile82Ser) c.136+3505T>G (n.136+3505T>G) c.*236T>G (n.*236T>G) c.440T>G (p.Ile147Ser) c.343+3505T>G (n.343+3505T>G) c.452T>G (p.Ile151Ser) | |
| 9 | g.99132605T= | CA1867274486 | TGFBR1 | c.233T= (p.Ile78=) c.245T= (p.Ile82=) c.136+3505T= (n.136+3505T=) c.*236T= (n.*236T=) c.440T= (p.Ile147=) c.343+3505T= (n.343+3505T=) c.452T= (p.Ile151=) | |
| 9 | g.99132606C>A | CA466648127 | TGFBR1 | c.234C>A (p.Ile78=) c.246C>A (p.Ile82=) c.136+3506C>A (n.136+3506C>A) c.*237C>A (n.*237C>A) c.441C>A (p.Ile147=) c.343+3506C>A (n.343+3506C>A) c.453C>A (p.Ile151=) | |
| 9 | g.99132606C>G | CA374228052 | TGFBR1 | c.234C>G (p.Ile78Met) c.246C>G (p.Ile82Met) c.136+3506C>G (n.136+3506C>G) c.*237C>G (n.*237C>G) c.441C>G (p.Ile147Met) c.343+3506C>G (n.343+3506C>G) c.453C>G (p.Ile151Met) | |
| 9 | g.99132606C>T | CA466648125 | TGFBR1 | c.234C>T (p.Ile78=) c.246C>T (p.Ile82=) c.136+3506C>T (n.136+3506C>T) c.*237C>T (n.*237C>T) c.441C>T (p.Ile147=) c.343+3506C>T (n.343+3506C>T) c.453C>T (p.Ile151=) | |
| 9 | g.99132607T>A | CA374228054 | TGFBR1 | c.235T>A (p.Cys79Ser) c.247T>A (p.Cys83Ser) c.136+3507T>A (n.136+3507T>A) c.*238T>A (n.*238T>A) c.442T>A (p.Cys148Ser) c.343+3507T>A (n.343+3507T>A) c.454T>A (p.Cys152Ser) | |
| 9 | g.99132607T>C | CA374228056 | TGFBR1 | c.235T>C (p.Cys79Arg) c.247T>C (p.Cys83Arg) c.136+3507T>C (n.136+3507T>C) c.*238T>C (n.*238T>C) c.442T>C (p.Cys148Arg) c.343+3507T>C (n.343+3507T>C) c.454T>C (p.Cys152Arg) | |
| 9 | g.99132607T>G | CA374228057 | TGFBR1 | c.235T>G (p.Cys79Gly) c.247T>G (p.Cys83Gly) c.136+3507T>G (n.136+3507T>G) c.*238T>G (n.*238T>G) c.442T>G (p.Cys148Gly) c.343+3507T>G (n.343+3507T>G) c.454T>G (p.Cys152Gly) | |
| 9 | g.99132608G>A | CA374228059 | TGFBR1 | c.236G>A (p.Cys79Tyr) c.248G>A (p.Cys83Tyr) c.136+3508G>A (n.136+3508G>A) c.*239G>A (n.*239G>A) c.443G>A (p.Cys148Tyr) c.343+3508G>A (n.343+3508G>A) c.455G>A (p.Cys152Tyr) | dbSNP |
| 9 | g.99132608G>C | CA374228060 | TGFBR1 | c.236G>C (p.Cys79Ser) c.248G>C (p.Cys83Ser) c.136+3508G>C (n.136+3508G>C) c.*239G>C (n.*239G>C) c.443G>C (p.Cys148Ser) c.343+3508G>C (n.343+3508G>C) c.455G>C (p.Cys152Ser) | |
| 9 | g.99132608G= | CA1867274491 | TGFBR1 | c.236G= (p.Cys79=) c.248G= (p.Cys83=) c.136+3508G= (n.136+3508G=) c.*239G= (n.*239G=) c.443G= (p.Cys148=) c.343+3508G= (n.343+3508G=) c.455G= (p.Cys152=) | |
| 9 | g.99132608G>T | CA374228062 | TGFBR1 | c.236G>T (p.Cys79Phe) c.248G>T (p.Cys83Phe) c.136+3508G>T (n.136+3508G>T) c.*239G>T (n.*239G>T) c.443G>T (p.Cys148Phe) c.343+3508G>T (n.343+3508G>T) c.455G>T (p.Cys152Phe) | |
| 9 | g.99132609C>A | CA374228064 | TGFBR1 | c.237C>A (p.Cys79Ter) c.249C>A (p.Cys83Ter) c.136+3509C>A (n.136+3509C>A) c.*240C>A (n.*240C>A) c.444C>A (p.Cys148Ter) c.343+3509C>A (n.343+3509C>A) c.456C>A (p.Cys152Ter) | |
| 9 | g.99132609C>G | CA374228065 | TGFBR1 | c.237C>G (p.Cys79Trp) c.249C>G (p.Cys83Trp) c.136+3509C>G (n.136+3509C>G) c.*240C>G (n.*240C>G) c.444C>G (p.Cys148Trp) c.343+3509C>G (n.343+3509C>G) c.456C>G (p.Cys152Trp) | |
| 9 | g.99132609C>T | CA466648129 | TGFBR1 | c.237C>T (p.Cys79=) c.249C>T (p.Cys83=) c.136+3509C>T (n.136+3509C>T) c.*240C>T (n.*240C>T) c.444C>T (p.Cys148=) c.343+3509C>T (n.343+3509C>T) c.456C>T (p.Cys152=) | |
| 9 | g.99132610C>A | CA374228067 | TGFBR1 | c.238C>A (p.His80Asn) c.250C>A (p.His84Asn) c.136+3510C>A (n.136+3510C>A) c.*241C>A (n.*241C>A) c.445C>A (p.His149Asn) c.343+3510C>A (n.343+3510C>A) c.457C>A (p.His153Asn) | |
| 9 | g.99132610C>G | CA374228069 | TGFBR1 | c.238C>G (p.His80Asp) c.250C>G (p.His84Asp) c.136+3510C>G (n.136+3510C>G) c.*241C>G (n.*241C>G) c.445C>G (p.His149Asp) c.343+3510C>G (n.343+3510C>G) c.457C>G (p.His153Asp) | ClinVar gnomAD v4 |
| 9 | g.99132610C>T | CA374228070 | TGFBR1 | c.238C>T (p.His80Tyr) c.250C>T (p.His84Tyr) c.136+3510C>T (n.136+3510C>T) c.*241C>T (n.*241C>T) c.445C>T (p.His149Tyr) c.343+3510C>T (n.343+3510C>T) c.457C>T (p.His153Tyr) | |
| 9 | g.99132611A= | CA1867274505 | TGFBR1 | c.239A= (p.His80=) c.251A= (p.His84=) c.136+3511A= (n.136+3511A=) c.*242A= (n.*242A=) c.446A= (p.His149=) c.343+3511A= (n.343+3511A=) c.458A= (p.His153=) | |
| 9 | g.99132611A>C | CA374228072 | TGFBR1 | c.239A>C (p.His80Pro) c.251A>C (p.His84Pro) c.136+3511A>C (n.136+3511A>C) c.*242A>C (n.*242A>C) c.446A>C (p.His149Pro) c.343+3511A>C (n.343+3511A>C) c.458A>C (p.His153Pro) | gnomAD v4 |
| 9 | g.99132611A>G | CA042066 | TGFBR1 | c.239A>G (p.His80Arg) c.251A>G (p.His84Arg) c.136+3511A>G (n.136+3511A>G) c.*242A>G (n.*242A>G) c.446A>G (p.His149Arg) c.343+3511A>G (n.343+3511A>G) c.458A>G (p.His153Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.99132611A>T | CA374228074 | TGFBR1 | c.239A>T (p.His80Leu) c.251A>T (p.His84Leu) c.136+3511A>T (n.136+3511A>T) c.*242A>T (n.*242A>T) c.446A>T (p.His149Leu) c.343+3511A>T (n.343+3511A>T) c.458A>T (p.His153Leu) | gnomAD v4 |
| 9 | g.99132612C>A | CA374228076 | TGFBR1 | c.240C>A (p.His80Gln) c.252C>A (p.His84Gln) c.136+3512C>A (n.136+3512C>A) c.*243C>A (n.*243C>A) c.447C>A (p.His149Gln) c.343+3512C>A (n.343+3512C>A) c.459C>A (p.His153Gln) | |
| 9 | g.99132612C>G | CA374228077 | TGFBR1 | c.240C>G (p.His80Gln) c.252C>G (p.His84Gln) c.136+3512C>G (n.136+3512C>G) c.*243C>G (n.*243C>G) c.447C>G (p.His149Gln) c.343+3512C>G (n.343+3512C>G) c.459C>G (p.His153Gln) | |
| 9 | g.99132612C>T | CA466648134 | TGFBR1 | c.240C>T (p.His80=) c.252C>T (p.His84=) c.136+3512C>T (n.136+3512C>T) c.*243C>T (n.*243C>T) c.447C>T (p.His149=) c.343+3512C>T (n.343+3512C>T) c.459C>T (p.His153=) | |
| 9 | g.99132613A>C | CA374228078 | TGFBR1 | c.241A>C (p.Asn81His) c.253A>C (p.Asn85His) c.136+3513A>C (n.136+3513A>C) c.*244A>C (n.*244A>C) c.448A>C (p.Asn150His) c.343+3513A>C (n.343+3513A>C) c.460A>C (p.Asn154His) | |
| 9 | g.99132613A>G | CA374228080 | TGFBR1 | c.241A>G (p.Asn81Asp) c.253A>G (p.Asn85Asp) c.136+3513A>G (n.136+3513A>G) c.*244A>G (n.*244A>G) c.448A>G (p.Asn150Asp) c.343+3513A>G (n.343+3513A>G) c.460A>G (p.Asn154Asp) | |
| 9 | g.99132613A>T | CA374228082 | TGFBR1 | c.241A>T (p.Asn81Tyr) c.253A>T (p.Asn85Tyr) c.136+3513A>T (n.136+3513A>T) c.*244A>T (n.*244A>T) c.448A>T (p.Asn150Tyr) c.343+3513A>T (n.343+3513A>T) c.460A>T (p.Asn154Tyr) | |
| 9 | g.99132614A= | CA1867274509 | TGFBR1 | c.242A= (p.Asn81=) c.254A= (p.Asn85=) c.136+3514A= (n.136+3514A=) c.*245A= (n.*245A=) c.449A= (p.Asn150=) c.343+3514A= (n.343+3514A=) c.461A= (p.Asn154=) | |
| 9 | g.99132614A>C | CA374228083 | TGFBR1 | c.242A>C (p.Asn81Thr) c.254A>C (p.Asn85Thr) c.136+3514A>C (n.136+3514A>C) c.*245A>C (n.*245A>C) c.449A>C (p.Asn150Thr) c.343+3514A>C (n.343+3514A>C) c.461A>C (p.Asn154Thr) | |
| 9 | g.99132614A>G | CA196885598 | TGFBR1 | c.242A>G (p.Asn81Ser) c.254A>G (p.Asn85Ser) c.136+3514A>G (n.136+3514A>G) c.*245A>G (n.*245A>G) c.449A>G (p.Asn150Ser) c.343+3514A>G (n.343+3514A>G) c.461A>G (p.Asn154Ser) | ClinVar dbSNP gnomAD v4 |
| 9 | g.99132614A>T | CA374228084 | TGFBR1 | c.242A>T (p.Asn81Ile) c.254A>T (p.Asn85Ile) c.136+3514A>T (n.136+3514A>T) c.*245A>T (n.*245A>T) c.449A>T (p.Asn150Ile) c.343+3514A>T (n.343+3514A>T) c.461A>T (p.Asn154Ile) | |
| 9 | g.99132615C>A | CA374228086 | TGFBR1 | c.243C>A (p.Asn81Lys) c.255C>A (p.Asn85Lys) c.136+3515C>A (n.136+3515C>A) c.*246C>A (n.*246C>A) c.450C>A (p.Asn150Lys) c.343+3515C>A (n.343+3515C>A) c.462C>A (p.Asn154Lys) | |
| 9 | g.99132615C= | CA1867274516 | TGFBR1 | c.243C= (p.Asn81=) c.255C= (p.Asn85=) c.136+3515C= (n.136+3515C=) c.*246C= (n.*246C=) c.450C= (p.Asn150=) c.343+3515C= (n.343+3515C=) c.462C= (p.Asn154=) | |
| 9 | g.99132615C>G | CA374228087 | TGFBR1 | c.243C>G (p.Asn81Lys) c.255C>G (p.Asn85Lys) c.136+3515C>G (n.136+3515C>G) c.*246C>G (n.*246C>G) c.450C>G (p.Asn150Lys) c.343+3515C>G (n.343+3515C>G) c.462C>G (p.Asn154Lys) | |
| 9 | g.99132615C>T | CA466648138 | TGFBR1 | c.243C>T (p.Asn81=) c.255C>T (p.Asn85=) c.136+3515C>T (n.136+3515C>T) c.*246C>T (n.*246C>T) c.450C>T (p.Asn150=) c.343+3515C>T (n.343+3515C>T) c.462C>T (p.Asn154=) | dbSNP |
| 9 | g.99132616C>A | CA374228089 | TGFBR1 | c.244C>A (p.Arg82Ser) c.256C>A (p.Arg86Ser) c.136+3516C>A (n.136+3516C>A) c.*247C>A (n.*247C>A) c.451C>A (p.Arg151Ser) c.343+3516C>A (n.343+3516C>A) c.463C>A (p.Arg155Ser) | dbSNP |
| 9 | g.99132616C= | CA1867274531 | TGFBR1 | c.244C= (p.Arg82=) c.256C= (p.Arg86=) c.136+3516C= (n.136+3516C=) c.*247C= (n.*247C=) c.451C= (p.Arg151=) c.343+3516C= (n.343+3516C=) c.463C= (p.Arg155=) | |
| 9 | g.99132616C>G | CA374228091 | TGFBR1 | c.244C>G (p.Arg82Gly) c.256C>G (p.Arg86Gly) c.136+3516C>G (n.136+3516C>G) c.*247C>G (n.*247C>G) c.451C>G (p.Arg151Gly) c.343+3516C>G (n.343+3516C>G) c.463C>G (p.Arg155Gly) | |
| 9 | g.99132616C>T | CA063558 | TGFBR1 | c.244C>T (p.Arg82Cys) c.256C>T (p.Arg86Cys) c.136+3516C>T (n.136+3516C>T) c.*247C>T (n.*247C>T) c.451C>T (p.Arg151Cys) c.343+3516C>T (n.343+3516C>T) c.463C>T (p.Arg155Cys) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.99132617G>A | CA042092 | TGFBR1 | c.245G>A (p.Arg82His) c.257G>A (p.Arg86His) c.136+3517G>A (n.136+3517G>A) c.*248G>A (n.*248G>A) c.452G>A (p.Arg151His) c.343+3517G>A (n.343+3517G>A) c.464G>A (p.Arg155His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.99132617G>C | CA374228093 | TGFBR1 | c.245G>C (p.Arg82Pro) c.257G>C (p.Arg86Pro) c.136+3517G>C (n.136+3517G>C) c.*248G>C (n.*248G>C) c.452G>C (p.Arg151Pro) c.343+3517G>C (n.343+3517G>C) c.464G>C (p.Arg155Pro) | |
| 9 | g.99132617G= | CA1867274540 | TGFBR1 | c.245G= (p.Arg82=) c.257G= (p.Arg86=) c.136+3517G= (n.136+3517G=) c.*248G= (n.*248G=) c.452G= (p.Arg151=) c.343+3517G= (n.343+3517G=) c.464G= (p.Arg155=) | |
| 9 | g.99132617G>T | CA374228095 | TGFBR1 | c.245G>T (p.Arg82Leu) c.257G>T (p.Arg86Leu) c.136+3517G>T (n.136+3517G>T) c.*248G>T (n.*248G>T) c.452G>T (p.Arg151Leu) c.343+3517G>T (n.343+3517G>T) c.464G>T (p.Arg155Leu) | dbSNP gnomAD v4 |
| 9 | g.99132618C>A | CA466648143 | TGFBR1 | c.246C>A (p.Arg82=) c.258C>A (p.Arg86=) c.136+3518C>A (n.136+3518C>A) c.*249C>A (n.*249C>A) c.453C>A (p.Arg151=) c.343+3518C>A (n.343+3518C>A) c.465C>A (p.Arg155=) | |
| 9 | g.99132618C>G | CA466648144 | TGFBR1 | c.246C>G (p.Arg82=) c.258C>G (p.Arg86=) c.136+3518C>G (n.136+3518C>G) c.*249C>G (n.*249C>G) c.453C>G (p.Arg151=) c.343+3518C>G (n.343+3518C>G) c.465C>G (p.Arg155=) | |
| 9 | g.99132618C>T | CA466648145 | TGFBR1 | c.246C>T (p.Arg82=) c.258C>T (p.Arg86=) c.136+3518C>T (n.136+3518C>T) c.*249C>T (n.*249C>T) c.453C>T (p.Arg151=) c.343+3518C>T (n.343+3518C>T) c.465C>T (p.Arg155=) | ClinVar gnomAD v4 |
| 9 | g.99132619A>C | CA374228097 | TGFBR1 | c.247A>C (p.Thr83Pro) c.259A>C (p.Thr87Pro) c.136+3519A>C (n.136+3519A>C) c.*250A>C (n.*250A>C) c.454A>C (p.Thr152Pro) c.343+3519A>C (n.343+3519A>C) c.466A>C (p.Thr156Pro) | |
| 9 | g.99132619A>G | CA374228098 | TGFBR1 | c.247A>G (p.Thr83Ala) c.259A>G (p.Thr87Ala) c.136+3519A>G (n.136+3519A>G) c.*250A>G (n.*250A>G) c.454A>G (p.Thr152Ala) c.343+3519A>G (n.343+3519A>G) c.466A>G (p.Thr156Ala) | gnomAD v4 |
| 9 | g.99132619A>T | CA374228099 | TGFBR1 | c.247A>T (p.Thr83Ser) c.259A>T (p.Thr87Ser) c.136+3519A>T (n.136+3519A>T) c.*250A>T (n.*250A>T) c.454A>T (p.Thr152Ser) c.343+3519A>T (n.343+3519A>T) c.466A>T (p.Thr156Ser) | |
| 9 | g.99132620C>A | CA374228102 | TGFBR1 | c.248C>A (p.Thr83Asn) c.260C>A (p.Thr87Asn) c.136+3520C>A (n.136+3520C>A) c.*251C>A (n.*251C>A) c.455C>A (p.Thr152Asn) c.343+3520C>A (n.343+3520C>A) c.467C>A (p.Thr156Asn) | |
| 9 | g.99132620C>G | CA374228103 | TGFBR1 | c.248C>G (p.Thr83Ser) c.260C>G (p.Thr87Ser) c.136+3520C>G (n.136+3520C>G) c.*251C>G (n.*251C>G) c.455C>G (p.Thr152Ser) c.343+3520C>G (n.343+3520C>G) c.467C>G (p.Thr156Ser) | |
| 9 | g.99132620C>T | CA374228105 | TGFBR1 | c.248C>T (p.Thr83Ile) c.260C>T (p.Thr87Ile) c.136+3520C>T (n.136+3520C>T) c.*251C>T (n.*251C>T) c.455C>T (p.Thr152Ile) c.343+3520C>T (n.343+3520C>T) c.467C>T (p.Thr156Ile) | |
| 9 | g.99132621T>A | CA466648149 | TGFBR1 | c.249T>A (p.Thr83=) c.261T>A (p.Thr87=) c.136+3521T>A (n.136+3521T>A) c.*252T>A (n.*252T>A) c.456T>A (p.Thr152=) c.343+3521T>A (n.343+3521T>A) c.468T>A (p.Thr156=) | |
| 9 | g.99132621T>C | CA466648150 | TGFBR1 | c.249T>C (p.Thr83=) c.261T>C (p.Thr87=) c.136+3521T>C (n.136+3521T>C) c.*252T>C (n.*252T>C) c.456T>C (p.Thr152=) c.343+3521T>C (n.343+3521T>C) c.468T>C (p.Thr156=) | |
| 9 | g.99132621T>G | CA466648151 | TGFBR1 | c.249T>G (p.Thr83=) c.261T>G (p.Thr87=) c.136+3521T>G (n.136+3521T>G) c.*252T>G (n.*252T>G) c.456T>G (p.Thr152=) c.343+3521T>G (n.343+3521T>G) c.468T>G (p.Thr156=) | |
| 9 | g.99132622G>A | CA042108 | TGFBR1 | c.250G>A (p.Val84Ile) c.262G>A (p.Val88Ile) c.136+3522G>A (n.136+3522G>A) c.*253G>A (n.*253G>A) c.457G>A (p.Val153Ile) c.343+3522G>A (n.343+3522G>A) c.469G>A (p.Val157Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99132622G>C | CA374228106 | TGFBR1 | c.250G>C (p.Val84Leu) c.262G>C (p.Val88Leu) c.136+3522G>C (n.136+3522G>C) c.*253G>C (n.*253G>C) c.457G>C (p.Val153Leu) c.343+3522G>C (n.343+3522G>C) c.469G>C (p.Val157Leu) | |
| 9 | g.99132622G= | CA1867274552 | TGFBR1 | c.250G= (p.Val84=) c.262G= (p.Val88=) c.136+3522G= (n.136+3522G=) c.*253G= (n.*253G=) c.457G= (p.Val153=) c.343+3522G= (n.343+3522G=) c.469G= (p.Val157=) | |
| 9 | g.99132622G>T | CA374228108 | TGFBR1 | c.250G>T (p.Val84Phe) c.262G>T (p.Val88Phe) c.136+3522G>T (n.136+3522G>T) c.*253G>T (n.*253G>T) c.457G>T (p.Val153Phe) c.343+3522G>T (n.343+3522G>T) c.469G>T (p.Val157Phe) | |
| 9 | g.99132623T>A | CA374228109 | TGFBR1 | c.251T>A (p.Val84Asp) c.263T>A (p.Val88Asp) c.136+3523T>A (n.136+3523T>A) c.*254T>A (n.*254T>A) c.458T>A (p.Val153Asp) c.343+3523T>A (n.343+3523T>A) c.470T>A (p.Val157Asp) | |
| 9 | g.99132623T>C | CA374228111 | TGFBR1 | c.251T>C (p.Val84Ala) c.263T>C (p.Val88Ala) c.136+3523T>C (n.136+3523T>C) c.*254T>C (n.*254T>C) c.458T>C (p.Val153Ala) c.343+3523T>C (n.343+3523T>C) c.470T>C (p.Val157Ala) | |
| 9 | g.99132623T>G | CA374228112 | TGFBR1 | c.251T>G (p.Val84Gly) c.263T>G (p.Val88Gly) c.136+3523T>G (n.136+3523T>G) c.*254T>G (n.*254T>G) c.458T>G (p.Val153Gly) c.343+3523T>G (n.343+3523T>G) c.470T>G (p.Val157Gly) | gnomAD v4 |
| 9 | g.99132624C>A | CA466648155 | TGFBR1 | c.252C>A (p.Val84=) c.264C>A (p.Val88=) c.136+3524C>A (n.136+3524C>A) c.*255C>A (n.*255C>A) c.459C>A (p.Val153=) c.343+3524C>A (n.343+3524C>A) c.471C>A (p.Val157=) | COSMIC |
| 9 | g.99132624C>G | CA466648154 | TGFBR1 | c.252C>G (p.Val84=) c.264C>G (p.Val88=) c.136+3524C>G (n.136+3524C>G) c.*255C>G (n.*255C>G) c.459C>G (p.Val153=) c.343+3524C>G (n.343+3524C>G) c.471C>G (p.Val157=) | |
| 9 | g.99132624C>T | CA466648153 | TGFBR1 | c.252C>T (p.Val84=) c.264C>T (p.Val88=) c.136+3524C>T (n.136+3524C>T) c.*255C>T (n.*255C>T) c.459C>T (p.Val153=) c.343+3524C>T (n.343+3524C>T) c.471C>T (p.Val157=) | |
| 9 | g.99132625A>C | CA374228117 | TGFBR1 | c.253A>C (p.Ile85Leu) c.265A>C (p.Ile89Leu) c.136+3525A>C (n.136+3525A>C) c.*256A>C (n.*256A>C) c.460A>C (p.Ile154Leu) c.343+3525A>C (n.343+3525A>C) c.472A>C (p.Ile158Leu) | |
| 9 | g.99132625A>G | CA374228115 | TGFBR1 | c.253A>G (p.Ile85Val) c.265A>G (p.Ile89Val) c.136+3525A>G (n.136+3525A>G) c.*256A>G (n.*256A>G) c.460A>G (p.Ile154Val) c.343+3525A>G (n.343+3525A>G) c.472A>G (p.Ile158Val) | ClinVar |
| 9 | g.99132625A>T | CA374228114 | TGFBR1 | c.253A>T (p.Ile85Phe) c.265A>T (p.Ile89Phe) c.136+3525A>T (n.136+3525A>T) c.*256A>T (n.*256A>T) c.460A>T (p.Ile154Phe) c.343+3525A>T (n.343+3525A>T) c.472A>T (p.Ile158Phe) | |
| 9 | g.99132626T>A | CA374228120 | TGFBR1 | c.254T>A (p.Ile85Asn) c.266T>A (p.Ile89Asn) c.136+3526T>A (n.136+3526T>A) c.*257T>A (n.*257T>A) c.461T>A (p.Ile154Asn) c.343+3526T>A (n.343+3526T>A) c.473T>A (p.Ile158Asn) | |
| 9 | g.99132626T>C | CA374228119 | TGFBR1 | c.254T>C (p.Ile85Thr) c.266T>C (p.Ile89Thr) c.136+3526T>C (n.136+3526T>C) c.*257T>C (n.*257T>C) c.461T>C (p.Ile154Thr) c.343+3526T>C (n.343+3526T>C) c.473T>C (p.Ile158Thr) | |
| 9 | g.99132626T>G | CA374228121 | TGFBR1 | c.254T>G (p.Ile85Ser) c.266T>G (p.Ile89Ser) c.136+3526T>G (n.136+3526T>G) c.*257T>G (n.*257T>G) c.461T>G (p.Ile154Ser) c.343+3526T>G (n.343+3526T>G) c.473T>G (p.Ile158Ser) | gnomAD v4 |
| 9 | g.99132627T>A | CA466648158 | TGFBR1 | c.255T>A (p.Ile85=) c.267T>A (p.Ile89=) c.136+3527T>A (n.136+3527T>A) c.*258T>A (n.*258T>A) c.462T>A (p.Ile154=) c.343+3527T>A (n.343+3527T>A) c.474T>A (p.Ile158=) | |
| 9 | g.99132627T>C | CA466648160 | TGFBR1 | c.255T>C (p.Ile85=) c.267T>C (p.Ile89=) c.136+3527T>C (n.136+3527T>C) c.*258T>C (n.*258T>C) c.462T>C (p.Ile154=) c.343+3527T>C (n.343+3527T>C) c.474T>C (p.Ile158=) | |
| 9 | g.99132627T>G | CA374228122 | TGFBR1 | c.255T>G (p.Ile85Met) c.267T>G (p.Ile89Met) c.136+3527T>G (n.136+3527T>G) c.*258T>G (n.*258T>G) c.462T>G (p.Ile154Met) c.343+3527T>G (n.343+3527T>G) c.474T>G (p.Ile158Met) | |
| 9 | g.99132628C>A | CA374228126 | TGFBR1 | c.256C>A (p.His86Asn) c.268C>A (p.His90Asn) c.136+3528C>A (n.136+3528C>A) c.*259C>A (n.*259C>A) c.463C>A (p.His155Asn) c.343+3528C>A (n.343+3528C>A) c.475C>A (p.His159Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99132628C= | CA1867274560 | TGFBR1 | c.256C= (p.His86=) c.268C= (p.His90=) c.136+3528C= (n.136+3528C=) c.*259C= (n.*259C=) c.463C= (p.His155=) c.343+3528C= (n.343+3528C=) c.475C= (p.His159=) | |
| 9 | g.99132628C>G | CA374228123 | TGFBR1 | c.256C>G (p.His86Asp) c.268C>G (p.His90Asp) c.136+3528C>G (n.136+3528C>G) c.*259C>G (n.*259C>G) c.463C>G (p.His155Asp) c.343+3528C>G (n.343+3528C>G) c.475C>G (p.His159Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99132628C>T | CA042118 | TGFBR1 | c.256C>T (p.His86Tyr) c.268C>T (p.His90Tyr) c.136+3528C>T (n.136+3528C>T) c.*259C>T (n.*259C>T) c.463C>T (p.His155Tyr) c.343+3528C>T (n.343+3528C>T) c.475C>T (p.His159Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99132629A= | CA1867274568 | TGFBR1 | c.257A= (p.His86=) c.269A= (p.His90=) c.136+3529A= (n.136+3529A=) c.*260A= (n.*260A=) c.464A= (p.His155=) c.343+3529A= (n.343+3529A=) c.476A= (p.His159=) | |
| 9 | g.99132629A>C | CA374228127 | TGFBR1 | c.257A>C (p.His86Pro) c.269A>C (p.His90Pro) c.136+3529A>C (n.136+3529A>C) c.*260A>C (n.*260A>C) c.464A>C (p.His155Pro) c.343+3529A>C (n.343+3529A>C) c.476A>C (p.His159Pro) | |
| 9 | g.99132629A>G | CA374228129 | TGFBR1 | c.257A>G (p.His86Arg) c.269A>G (p.His90Arg) c.136+3529A>G (n.136+3529A>G) c.*260A>G (n.*260A>G) c.464A>G (p.His155Arg) c.343+3529A>G (n.343+3529A>G) c.476A>G (p.His159Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.99132629A>T | CA374228130 | TGFBR1 | c.257A>T (p.His86Leu) c.269A>T (p.His90Leu) c.136+3529A>T (n.136+3529A>T) c.*260A>T (n.*260A>T) c.464A>T (p.His155Leu) c.343+3529A>T (n.343+3529A>T) c.476A>T (p.His159Leu) | |
| 9 | g.99132630C>A | CA374228132 | TGFBR1 | c.258C>A (p.His86Gln) c.270C>A (p.His90Gln) c.136+3530C>A (n.136+3530C>A) c.*261C>A (n.*261C>A) c.465C>A (p.His155Gln) c.343+3530C>A (n.343+3530C>A) c.477C>A (p.His159Gln) | |
| 9 | g.99132630C= | CA1867274572 | TGFBR1 | c.258C= (p.His86=) c.270C= (p.His90=) c.136+3530C= (n.136+3530C=) c.*261C= (n.*261C=) c.465C= (p.His155=) c.343+3530C= (n.343+3530C=) c.477C= (p.His159=) | |
| 9 | g.99132630C>G | CA374228134 | TGFBR1 | c.258C>G (p.His86Gln) c.270C>G (p.His90Gln) c.136+3530C>G (n.136+3530C>G) c.*261C>G (n.*261C>G) c.465C>G (p.His155Gln) c.343+3530C>G (n.343+3530C>G) c.477C>G (p.His159Gln) | dbSNP gnomAD v4 |
| 9 | g.99132630C>T | CA466648165 | TGFBR1 | c.258C>T (p.His86=) c.270C>T (p.His90=) c.136+3530C>T (n.136+3530C>T) c.*261C>T (n.*261C>T) c.465C>T (p.His155=) c.343+3530C>T (n.343+3530C>T) c.477C>T (p.His159=) | |
| 9 | g.99132631C>A | CA374228135 | TGFBR1 | c.259C>A (p.His87Asn) c.271C>A (p.His91Asn) c.136+3531C>A (n.136+3531C>A) c.*262C>A (n.*262C>A) c.466C>A (p.His156Asn) c.343+3531C>A (n.343+3531C>A) c.478C>A (p.His160Asn) | gnomAD v4 |
| 9 | g.99132631C= | CA1867274575 | TGFBR1 | c.259C= (p.His87=) c.271C= (p.His91=) c.136+3531C= (n.136+3531C=) c.*262C= (n.*262C=) c.466C= (p.His156=) c.343+3531C= (n.343+3531C=) c.478C= (p.His160=) | |
| 9 | g.99132631C>G | CA374228137 | TGFBR1 | c.259C>G (p.His87Asp) c.271C>G (p.His91Asp) c.136+3531C>G (n.136+3531C>G) c.*262C>G (n.*262C>G) c.466C>G (p.His156Asp) c.343+3531C>G (n.343+3531C>G) c.478C>G (p.His160Asp) | |
| 9 | g.99132631C>T | CA374228139 | TGFBR1 | c.259C>T (p.His87Tyr) c.271C>T (p.His91Tyr) c.136+3531C>T (n.136+3531C>T) c.*262C>T (n.*262C>T) c.466C>T (p.His156Tyr) c.343+3531C>T (n.343+3531C>T) c.478C>T (p.His160Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99132632_99132634del | CA2600670034 | TGFBR1 | c.260_262del (p.His87del) c.272_274del (p.His91del) c.136+3532_136+3534del (n.136+3532_136+3534del) c.*263_*265del (n.*263_*265del) c.467_469del (p.His156del) c.343+3532_343+3534del (n.343+3532_343+3534del) c.479_481del (p.His160del) | gnomAD v3 gnomAD v4 |
| 9 | g.99132632A= | CA1867274578 | TGFBR1 | c.260A= (p.His87=) c.272A= (p.His91=) c.136+3532A= (n.136+3532A=) c.*263A= (n.*263A=) c.467A= (p.His156=) c.343+3532A= (n.343+3532A=) c.479A= (p.His160=) | |
| 9 | g.99132632A>C | CA374228140 | TGFBR1 | c.260A>C (p.His87Pro) c.272A>C (p.His91Pro) c.136+3532A>C (n.136+3532A>C) c.*263A>C (n.*263A>C) c.467A>C (p.His156Pro) c.343+3532A>C (n.343+3532A>C) c.479A>C (p.His160Pro) | |
| 9 | g.99132632A>G | CA374228141 | TGFBR1 | c.260A>G (p.His87Arg) c.272A>G (p.His91Arg) c.136+3532A>G (n.136+3532A>G) c.*263A>G (n.*263A>G) c.467A>G (p.His156Arg) c.343+3532A>G (n.343+3532A>G) c.479A>G (p.His160Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99132632A>T | CA374228142 | TGFBR1 | c.260A>T (p.His87Leu) c.272A>T (p.His91Leu) c.136+3532A>T (n.136+3532A>T) c.*263A>T (n.*263A>T) c.467A>T (p.His156Leu) c.343+3532A>T (n.343+3532A>T) c.479A>T (p.His160Leu) | gnomAD v4 |
| 9 | g.99132633T>A | CA374228143 | TGFBR1 | c.261T>A (p.His87Gln) c.273T>A (p.His91Gln) c.136+3533T>A (n.136+3533T>A) c.*264T>A (n.*264T>A) c.468T>A (p.His156Gln) c.343+3533T>A (n.343+3533T>A) c.480T>A (p.His160Gln) | |
| 9 | g.99132633T>C | CA466648168 | TGFBR1 | c.261T>C (p.His87=) c.273T>C (p.His91=) c.136+3533T>C (n.136+3533T>C) c.*264T>C (n.*264T>C) c.468T>C (p.His156=) c.343+3533T>C (n.343+3533T>C) c.480T>C (p.His160=) | |
| 9 | g.99132633T>G | CA374228144 | TGFBR1 | c.261T>G (p.His87Gln) c.273T>G (p.His91Gln) c.136+3533T>G (n.136+3533T>G) c.*264T>G (n.*264T>G) c.468T>G (p.His156Gln) c.343+3533T>G (n.343+3533T>G) c.480T>G (p.His160Gln) | |
| 9 | g.99132634C>A | CA466648170 | TGFBR1 | c.262C>A (p.Arg88=) c.274C>A (p.Arg92=) c.136+3534C>A (n.136+3534C>A) c.*265C>A (n.*265C>A) c.469C>A (p.Arg157=) c.343+3534C>A (n.343+3534C>A) c.481C>A (p.Arg161=) | |
| 9 | g.99132634C= | CA1867274582 | TGFBR1 | c.262C= (p.Arg88=) c.274C= (p.Arg92=) c.136+3534C= (n.136+3534C=) c.*265C= (n.*265C=) c.469C= (p.Arg157=) c.343+3534C= (n.343+3534C=) c.481C= (p.Arg161=) | |
| 9 | g.99132634C>G | CA374228145 | TGFBR1 | c.262C>G (p.Arg88Gly) c.274C>G (p.Arg92Gly) c.136+3534C>G (n.136+3534C>G) c.*265C>G (n.*265C>G) c.469C>G (p.Arg157Gly) c.343+3534C>G (n.343+3534C>G) c.481C>G (p.Arg161Gly) | |
| 9 | g.99132634C>T | CA16612807 | TGFBR1 | c.262C>T (p.Arg88Ter) c.274C>T (p.Arg92Ter) c.136+3534C>T (n.136+3534C>T) c.*265C>T (n.*265C>T) c.469C>T (p.Arg157Ter) c.343+3534C>T (n.343+3534C>T) c.481C>T (p.Arg161Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 9 | g.99132635G>A | CA374228146 | TGFBR1 | c.263G>A (p.Arg88Gln) c.275G>A (p.Arg92Gln) c.136+3535G>A (n.136+3535G>A) c.*266G>A (n.*266G>A) c.470G>A (p.Arg157Gln) c.343+3535G>A (n.343+3535G>A) c.482G>A (p.Arg161Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99132635G>C | CA042129 | TGFBR1 | c.263G>C (p.Arg88Pro) c.275G>C (p.Arg92Pro) c.136+3535G>C (n.136+3535G>C) c.*266G>C (n.*266G>C) c.470G>C (p.Arg157Pro) c.343+3535G>C (n.343+3535G>C) c.482G>C (p.Arg161Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99132635G= | CA1867274597 | TGFBR1 | c.263G= (p.Arg88=) c.275G= (p.Arg92=) c.136+3535G= (n.136+3535G=) c.*266G= (n.*266G=) c.470G= (p.Arg157=) c.343+3535G= (n.343+3535G=) c.482G= (p.Arg161=) | |
| 9 | g.99132635G>T | CA374228148 | TGFBR1 | c.263G>T (p.Arg88Leu) c.275G>T (p.Arg92Leu) c.136+3535G>T (n.136+3535G>T) c.*266G>T (n.*266G>T) c.470G>T (p.Arg157Leu) c.343+3535G>T (n.343+3535G>T) c.482G>T (p.Arg161Leu) | |
| 9 | g.99132636A= | CA1867274604 | TGFBR1 | c.264A= (p.Arg88=) c.276A= (p.Arg92=) c.136+3536A= (n.136+3536A=) c.*267A= (n.*267A=) c.471A= (p.Arg157=) c.343+3536A= (n.343+3536A=) c.483A= (p.Arg161=) | |
| 9 | g.99132636A>C | CA466648172 | TGFBR1 | c.264A>C (p.Arg88=) c.276A>C (p.Arg92=) c.136+3536A>C (n.136+3536A>C) c.*267A>C (n.*267A>C) c.471A>C (p.Arg157=) c.343+3536A>C (n.343+3536A>C) c.483A>C (p.Arg161=) | |
| 9 | g.99132636A>G | CA466648173 | TGFBR1 | c.264A>G (p.Arg88=) c.276A>G (p.Arg92=) c.136+3536A>G (n.136+3536A>G) c.*267A>G (n.*267A>G) c.471A>G (p.Arg157=) c.343+3536A>G (n.343+3536A>G) c.483A>G (p.Arg161=) | |
| 9 | g.99132636A>T | CA466648174 | TGFBR1 | c.264A>T (p.Arg88=) c.276A>T (p.Arg92=) c.136+3536A>T (n.136+3536A>T) c.*267A>T (n.*267A>T) c.471A>T (p.Arg157=) c.343+3536A>T (n.343+3536A>T) c.483A>T (p.Arg161=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99132636_99132638del | CA2695203280 | TGFBR1 | c.264_266del (p.Val89del) c.276_278del (p.Val93del) c.136+3536_136+3538del (n.136+3536_136+3538del) c.*267_*269del (n.*267_*269del) c.471_473del (p.Val158del) c.343+3536_343+3538del (n.343+3536_343+3538del) c.483_485del (p.Val162del) | |
| 9 | g.99132637G>A | CA374228150 | TGFBR1 | c.265G>A (p.Val89Met) c.277G>A (p.Val93Met) c.136+3537G>A (n.136+3537G>A) c.*268G>A (n.*268G>A) c.472G>A (p.Val158Met) c.343+3537G>A (n.343+3537G>A) c.484G>A (p.Val162Met) | |
| 9 | g.99132637G>C | CA374228152 | TGFBR1 | c.265G>C (p.Val89Leu) c.277G>C (p.Val93Leu) c.136+3537G>C (n.136+3537G>C) c.*268G>C (n.*268G>C) c.472G>C (p.Val158Leu) c.343+3537G>C (n.343+3537G>C) c.484G>C (p.Val162Leu) | |
| 9 | g.99132637G>T | CA374228154 | TGFBR1 | c.265G>T (p.Val89Leu) c.277G>T (p.Val93Leu) c.136+3537G>T (n.136+3537G>T) c.*268G>T (n.*268G>T) c.472G>T (p.Val158Leu) c.343+3537G>T (n.343+3537G>T) c.484G>T (p.Val162Leu) | |
| 9 | g.99132638T>A | CA374228155 | TGFBR1 | c.266T>A (p.Val89Glu) c.278T>A (p.Val93Glu) c.136+3538T>A (n.136+3538T>A) c.*269T>A (n.*269T>A) c.473T>A (p.Val158Glu) c.343+3538T>A (n.343+3538T>A) c.485T>A (p.Val162Glu) | |
| 9 | g.99132638T>C | CA374228156 | TGFBR1 | c.266T>C (p.Val89Ala) c.278T>C (p.Val93Ala) c.136+3538T>C (n.136+3538T>C) c.*269T>C (n.*269T>C) c.473T>C (p.Val158Ala) c.343+3538T>C (n.343+3538T>C) c.485T>C (p.Val162Ala) | |
| 9 | g.99132638T>G | CA374228158 | TGFBR1 | c.266T>G (p.Val89Gly) c.278T>G (p.Val93Gly) c.136+3538T>G (n.136+3538T>G) c.*269T>G (n.*269T>G) c.473T>G (p.Val158Gly) c.343+3538T>G (n.343+3538T>G) c.485T>G (p.Val162Gly) | |
| 9 | g.99132639G>A | CA466648178 | TGFBR1 | c.267G>A (p.Val89=) c.279G>A (p.Val93=) c.136+3539G>A (n.136+3539G>A) c.*270G>A (n.*270G>A) c.474G>A (p.Val158=) c.343+3539G>A (n.343+3539G>A) c.486G>A (p.Val162=) | dbSNP |
| 9 | g.99132639G>C | CA466648179 | TGFBR1 | c.267G>C (p.Val89=) c.279G>C (p.Val93=) c.136+3539G>C (n.136+3539G>C) c.*270G>C (n.*270G>C) c.474G>C (p.Val158=) c.343+3539G>C (n.343+3539G>C) c.486G>C (p.Val162=) | |
| 9 | g.99132639G>T | CA466648177 | TGFBR1 | c.267G>T (p.Val89=) c.279G>T (p.Val93=) c.136+3539G>T (n.136+3539G>T) c.*270G>T (n.*270G>T) c.474G>T (p.Val158=) c.343+3539G>T (n.343+3539G>T) c.486G>T (p.Val162=) | |
| 9 | g.99132640C>A | CA374228161 | TGFBR1 | c.268C>A (p.Pro90Thr) c.280C>A (p.Pro94Thr) c.136+3540C>A (n.136+3540C>A) c.*271C>A (n.*271C>A) c.475C>A (p.Pro159Thr) c.343+3540C>A (n.343+3540C>A) c.487C>A (p.Pro163Thr) | |
| 9 | g.99132640C>G | CA374228160 | TGFBR1 | c.268C>G (p.Pro90Ala) c.280C>G (p.Pro94Ala) c.136+3540C>G (n.136+3540C>G) c.*271C>G (n.*271C>G) c.475C>G (p.Pro159Ala) c.343+3540C>G (n.343+3540C>G) c.487C>G (p.Pro163Ala) | |
| 9 | g.99132640C>T | CA374228159 | TGFBR1 | c.268C>T (p.Pro90Ser) c.280C>T (p.Pro94Ser) c.136+3540C>T (n.136+3540C>T) c.*271C>T (n.*271C>T) c.475C>T (p.Pro159Ser) c.343+3540C>T (n.343+3540C>T) c.487C>T (p.Pro163Ser) | dbSNP |
| 9 | g.99132641C>A | CA374228163 | TGFBR1 | c.269C>A (p.Pro90Gln) c.281C>A (p.Pro94Gln) c.136+3541C>A (n.136+3541C>A) c.*272C>A (n.*272C>A) c.476C>A (p.Pro159Gln) c.343+3541C>A (n.343+3541C>A) c.488C>A (p.Pro163Gln) | |
| 9 | g.99132641C>G | CA374228164 | TGFBR1 | c.269C>G (p.Pro90Arg) c.281C>G (p.Pro94Arg) c.136+3541C>G (n.136+3541C>G) c.*272C>G (n.*272C>G) c.476C>G (p.Pro159Arg) c.343+3541C>G (n.343+3541C>G) c.488C>G (p.Pro163Arg) | |
| 9 | g.99132641C>T | CA374228166 | TGFBR1 | c.269C>T (p.Pro90Leu) c.281C>T (p.Pro94Leu) c.136+3541C>T (n.136+3541C>T) c.*272C>T (n.*272C>T) c.476C>T (p.Pro159Leu) c.343+3541C>T (n.343+3541C>T) c.488C>T (p.Pro163Leu) | |
| 9 | g.99132642A>C | CA466648180 | TGFBR1 | c.270A>C (p.Pro90=) c.282A>C (p.Pro94=) c.136+3542A>C (n.136+3542A>C) c.*273A>C (n.*273A>C) c.477A>C (p.Pro159=) c.343+3542A>C (n.343+3542A>C) c.489A>C (p.Pro163=) | |
| 9 | g.99132642A>G | CA466648181 | TGFBR1 | c.270A>G (p.Pro90=) c.282A>G (p.Pro94=) c.136+3542A>G (n.136+3542A>G) c.*273A>G (n.*273A>G) c.477A>G (p.Pro159=) c.343+3542A>G (n.343+3542A>G) c.489A>G (p.Pro163=) | gnomAD v4 |
| 9 | g.99132642A>T | CA466648182 | TGFBR1 | c.270A>T (p.Pro90=) c.282A>T (p.Pro94=) c.136+3542A>T (n.136+3542A>T) c.*273A>T (n.*273A>T) c.477A>T (p.Pro159=) c.343+3542A>T (n.343+3542A>T) c.489A>T (p.Pro163=) | |
| 9 | g.99132643A= | CA1867274606 | TGFBR1 | c.271A= (p.Asn91=) c.283A= (p.Asn95=) c.136+3543A= (n.136+3543A=) c.*274A= (n.*274A=) c.478A= (p.Asn160=) c.343+3543A= (n.343+3543A=) c.490A= (p.Asn164=) | |
| 9 | g.99132643A>C | CA196885649 | TGFBR1 | c.271A>C (p.Asn91His) c.283A>C (p.Asn95His) c.136+3543A>C (n.136+3543A>C) c.*274A>C (n.*274A>C) c.478A>C (p.Asn160His) c.343+3543A>C (n.343+3543A>C) c.490A>C (p.Asn164His) | dbSNP |
| 9 | g.99132643A>G | CA374228168 | TGFBR1 | c.271A>G (p.Asn91Asp) c.283A>G (p.Asn95Asp) c.136+3543A>G (n.136+3543A>G) c.*274A>G (n.*274A>G) c.478A>G (p.Asn160Asp) c.343+3543A>G (n.343+3543A>G) c.490A>G (p.Asn164Asp) | |
| 9 | g.99132643A>T | CA374228170 | TGFBR1 | c.271A>T (p.Asn91Tyr) c.283A>T (p.Asn95Tyr) c.136+3543A>T (n.136+3543A>T) c.*274A>T (n.*274A>T) c.478A>T (p.Asn160Tyr) c.343+3543A>T (n.343+3543A>T) c.490A>T (p.Asn164Tyr) | |
| 9 | g.99132644A= | CA1867274613 | TGFBR1 | c.272A= (p.Asn91=) c.284A= (p.Asn95=) c.136+3544A= (n.136+3544A=) c.*275A= (n.*275A=) c.479A= (p.Asn160=) c.343+3544A= (n.343+3544A=) c.491A= (p.Asn164=) | |
| 9 | g.99132644A>C | CA374228171 | TGFBR1 | c.272A>C (p.Asn91Thr) c.284A>C (p.Asn95Thr) c.136+3544A>C (n.136+3544A>C) c.*275A>C (n.*275A>C) c.479A>C (p.Asn160Thr) c.343+3544A>C (n.343+3544A>C) c.491A>C (p.Asn164Thr) | |
| 9 | g.99132644A>G | CA042147 | TGFBR1 | c.272A>G (p.Asn91Ser) c.284A>G (p.Asn95Ser) c.136+3544A>G (n.136+3544A>G) c.*275A>G (n.*275A>G) c.479A>G (p.Asn160Ser) c.343+3544A>G (n.343+3544A>G) c.491A>G (p.Asn164Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.99132644A>T | CA374228173 | TGFBR1 | c.272A>T (p.Asn91Ile) c.284A>T (p.Asn95Ile) c.136+3544A>T (n.136+3544A>T) c.*275A>T (n.*275A>T) c.479A>T (p.Asn160Ile) c.343+3544A>T (n.343+3544A>T) c.491A>T (p.Asn164Ile) | |
| 9 | g.99132645T>A | CA374228174 | TGFBR1 | c.273T>A (p.Asn91Lys) c.285T>A (p.Asn95Lys) c.136+3545T>A (n.136+3545T>A) c.*276T>A (n.*276T>A) c.480T>A (p.Asn160Lys) c.343+3545T>A (n.343+3545T>A) c.492T>A (p.Asn164Lys) | |
| 9 | g.99132645T>C | CA466648186 | TGFBR1 | c.273T>C (p.Asn91=) c.285T>C (p.Asn95=) c.136+3545T>C (n.136+3545T>C) c.*276T>C (n.*276T>C) c.480T>C (p.Asn160=) c.343+3545T>C (n.343+3545T>C) c.492T>C (p.Asn164=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99132645T>G | CA374228175 | TGFBR1 | c.273T>G (p.Asn91Lys) c.285T>G (p.Asn95Lys) c.136+3545T>G (n.136+3545T>G) c.*276T>G (n.*276T>G) c.480T>G (p.Asn160Lys) c.343+3545T>G (n.343+3545T>G) c.492T>G (p.Asn164Lys) | |
| 9 | g.99132645T= | CA1867274620 | TGFBR1 | c.273T= (p.Asn91=) c.285T= (p.Asn95=) c.136+3545T= (n.136+3545T=) c.*276T= (n.*276T=) c.480T= (p.Asn160=) c.343+3545T= (n.343+3545T=) c.492T= (p.Asn164=) | |
| 9 | g.99132646G>A | CA374228179 | TGFBR1 | c.274G>A (p.Glu92Lys) c.286G>A (p.Glu96Lys) c.136+3546G>A (n.136+3546G>A) c.*277G>A (n.*277G>A) c.481G>A (p.Glu161Lys) c.343+3546G>A (n.343+3546G>A) c.493G>A (p.Glu165Lys) | |
| 9 | g.99132646G>C | CA374228178 | TGFBR1 | c.274G>C (p.Glu92Gln) c.286G>C (p.Glu96Gln) c.136+3546G>C (n.136+3546G>C) c.*277G>C (n.*277G>C) c.481G>C (p.Glu161Gln) c.343+3546G>C (n.343+3546G>C) c.493G>C (p.Glu165Gln) | |
| 9 | g.99132646G>T | CA374228176 | TGFBR1 | c.274G>T (p.Glu92Ter) c.286G>T (p.Glu96Ter) c.136+3546G>T (n.136+3546G>T) c.*277G>T (n.*277G>T) c.481G>T (p.Glu161Ter) c.343+3546G>T (n.343+3546G>T) c.493G>T (p.Glu165Ter) | |
| 9 | g.99132647A>C | CA374228181 | TGFBR1 | c.275A>C (p.Glu92Ala) c.287A>C (p.Glu96Ala) c.136+3547A>C (n.136+3547A>C) c.*278A>C (n.*278A>C) c.482A>C (p.Glu161Ala) c.343+3547A>C (n.343+3547A>C) c.494A>C (p.Glu165Ala) | |
| 9 | g.99132647A>G | CA374228182 | TGFBR1 | c.275A>G (p.Glu92Gly) c.287A>G (p.Glu96Gly) c.136+3547A>G (n.136+3547A>G) c.*278A>G (n.*278A>G) c.482A>G (p.Glu161Gly) c.343+3547A>G (n.343+3547A>G) c.494A>G (p.Glu165Gly) | |
| 9 | g.99132647A>T | CA374228184 | TGFBR1 | c.275A>T (p.Glu92Val) c.287A>T (p.Glu96Val) c.136+3547A>T (n.136+3547A>T) c.*278A>T (n.*278A>T) c.482A>T (p.Glu161Val) c.343+3547A>T (n.343+3547A>T) c.494A>T (p.Glu165Val) | |
| 9 | g.99132648A>C | CA374228185 | TGFBR1 | c.276A>C (p.Glu92Asp) c.288A>C (p.Glu96Asp) c.136+3548A>C (n.136+3548A>C) c.*279A>C (n.*279A>C) c.483A>C (p.Glu161Asp) c.343+3548A>C (n.343+3548A>C) c.495A>C (p.Glu165Asp) | |
| 9 | g.99132648A>G | CA466648189 | TGFBR1 | c.276A>G (p.Glu92=) c.288A>G (p.Glu96=) c.136+3548A>G (n.136+3548A>G) c.*279A>G (n.*279A>G) c.483A>G (p.Glu161=) c.343+3548A>G (n.343+3548A>G) c.495A>G (p.Glu165=) | ClinVar |
| 9 | g.99132648A>T | CA374228187 | TGFBR1 | c.276A>T (p.Glu92Asp) c.288A>T (p.Glu96Asp) c.136+3548A>T (n.136+3548A>T) c.*279A>T (n.*279A>T) c.483A>T (p.Glu161Asp) c.343+3548A>T (n.343+3548A>T) c.495A>T (p.Glu165Asp) | |
| 9 | g.99132649G>A | CA063758 | TGFBR1 | c.277G>A (p.Glu93Lys) c.289G>A (p.Glu97Lys) c.136+3549G>A (n.136+3549G>A) c.*280G>A (n.*280G>A) c.484G>A (p.Glu162Lys) c.343+3549G>A (n.343+3549G>A) c.496G>A (p.Glu166Lys) | gnomAD v4 |
| 9 | g.99132649G>C | CA374228189 | TGFBR1 | c.277G>C (p.Glu93Gln) c.289G>C (p.Glu97Gln) c.136+3549G>C (n.136+3549G>C) c.*280G>C (n.*280G>C) c.484G>C (p.Glu162Gln) c.343+3549G>C (n.343+3549G>C) c.496G>C (p.Glu166Gln) | |
| 9 | g.99132649G>T | CA374228191 | TGFBR1 | c.277G>T (p.Glu93Ter) c.289G>T (p.Glu97Ter) c.136+3549G>T (n.136+3549G>T) c.*280G>T (n.*280G>T) c.484G>T (p.Glu162Ter) c.343+3549G>T (n.343+3549G>T) c.496G>T (p.Glu166Ter) | |
| 9 | g.99132650A>C | CA374228193 | TGFBR1 | c.278A>C (p.Glu93Ala) c.290A>C (p.Glu97Ala) c.136+3550A>C (n.136+3550A>C) c.*281A>C (n.*281A>C) c.485A>C (p.Glu162Ala) c.343+3550A>C (n.343+3550A>C) c.497A>C (p.Glu166Ala) | |
| 9 | g.99132650A>G | CA374228194 | TGFBR1 | c.278A>G (p.Glu93Gly) c.290A>G (p.Glu97Gly) c.136+3550A>G (n.136+3550A>G) c.*281A>G (n.*281A>G) c.485A>G (p.Glu162Gly) c.343+3550A>G (n.343+3550A>G) c.497A>G (p.Glu166Gly) | |
| 9 | g.99132650A>T | CA374228195 | TGFBR1 | c.278A>T (p.Glu93Val) c.290A>T (p.Glu97Val) c.136+3550A>T (n.136+3550A>T) c.*281A>T (n.*281A>T) c.485A>T (p.Glu162Val) c.343+3550A>T (n.343+3550A>T) c.497A>T (p.Glu166Val) | |
| 9 | g.99132650_99132651delinsAG | CA1867274626 | TGFBR1 | c.278_279delinsAG (p.Glu93=) c.290_291delinsAG (p.Glu97=) c.136+3550_136+3551delinsAG (n.136+3550_136+3551delinsAG) c.*281_*282delinsAG (n.*281_*282delinsAG) c.485_486delinsAG (p.Glu162=) c.343+3550_343+3551delinsAG (n.343+3550_343+3551delinsAG) c.497_498delinsAG (p.Glu166=) | |
| 9 | g.99132651G>A | CA466648193 | TGFBR1 | c.279G>A (p.Glu93=) c.291G>A (p.Glu97=) c.136+3551G>A (n.136+3551G>A) c.*282G>A (n.*282G>A) c.486G>A (p.Glu162=) c.343+3551G>A (n.343+3551G>A) c.498G>A (p.Glu166=) | |
| 9 | g.99132651G>C | CA374228197 | TGFBR1 | c.279G>C (p.Glu93Asp) c.291G>C (p.Glu97Asp) c.136+3551G>C (n.136+3551G>C) c.*282G>C (n.*282G>C) c.486G>C (p.Glu162Asp) c.343+3551G>C (n.343+3551G>C) c.498G>C (p.Glu166Asp) | |
| 9 | g.99132651G>T | CA374228199 | TGFBR1 | c.279G>T (p.Glu93Asp) c.291G>T (p.Glu97Asp) c.136+3551G>T (n.136+3551G>T) c.*282G>T (n.*282G>T) c.486G>T (p.Glu162Asp) c.343+3551G>T (n.343+3551G>T) c.498G>T (p.Glu166Asp) | |
| 9 | g.99132652del | CA913187639 | TGFBR1 | c.280del (p.Asp94ThrfsTer4) c.292del (p.Asp98ThrfsTer4) c.136+3552del (n.136+3552del) c.*283del (n.*283del) c.487del (p.Asp163ThrfsTer4) c.343+3552del (n.343+3552del) c.499del (p.Asp167ThrfsTer4) | ClinVar dbSNP |
| 9 | g.99132652G>A | CA374228203 | TGFBR1 | c.280G>A (p.Asp94Asn) c.292G>A (p.Asp98Asn) c.136+3552G>A (n.136+3552G>A) c.*283G>A (n.*283G>A) c.487G>A (p.Asp163Asn) c.343+3552G>A (n.343+3552G>A) c.499G>A (p.Asp167Asn) | |
| 9 | g.99132652G>C | CA374228204 | TGFBR1 | c.280G>C (p.Asp94His) c.292G>C (p.Asp98His) c.136+3552G>C (n.136+3552G>C) c.*283G>C (n.*283G>C) c.487G>C (p.Asp163His) c.343+3552G>C (n.343+3552G>C) c.499G>C (p.Asp167His) | dbSNP |
| 9 | g.99132652G>T | CA374228201 | TGFBR1 | c.280G>T (p.Asp94Tyr) c.292G>T (p.Asp98Tyr) c.136+3552G>T (n.136+3552G>T) c.*283G>T (n.*283G>T) c.487G>T (p.Asp163Tyr) c.343+3552G>T (n.343+3552G>T) c.499G>T (p.Asp167Tyr) | |
| 9 | g.99132653A>C | CA374228209 | TGFBR1 | c.281A>C (p.Asp94Ala) c.293A>C (p.Asp98Ala) c.136+3553A>C (n.136+3553A>C) c.*284A>C (n.*284A>C) c.488A>C (p.Asp163Ala) c.343+3553A>C (n.343+3553A>C) c.500A>C (p.Asp167Ala) | |
| 9 | g.99132653A>G | CA374228205 | TGFBR1 | c.281A>G (p.Asp94Gly) c.293A>G (p.Asp98Gly) c.136+3553A>G (n.136+3553A>G) c.*284A>G (n.*284A>G) c.488A>G (p.Asp163Gly) c.343+3553A>G (n.343+3553A>G) c.500A>G (p.Asp167Gly) | ClinVar dbSNP gnomAD v4 |
| 9 | g.99132653A>T | CA374228207 | TGFBR1 | c.281A>T (p.Asp94Val) c.293A>T (p.Asp98Val) c.136+3553A>T (n.136+3553A>T) c.*284A>T (n.*284A>T) c.488A>T (p.Asp163Val) c.343+3553A>T (n.343+3553A>T) c.500A>T (p.Asp167Val) | |
| 9 | g.99132654C>A | CA374228210 | TGFBR1 | c.282C>A (p.Asp94Glu) c.294C>A (p.Asp98Glu) c.136+3554C>A (n.136+3554C>A) c.*285C>A (n.*285C>A) c.489C>A (p.Asp163Glu) c.343+3554C>A (n.343+3554C>A) c.501C>A (p.Asp167Glu) | |
| 9 | g.99132654C>G | CA374228212 | TGFBR1 | c.282C>G (p.Asp94Glu) c.294C>G (p.Asp98Glu) c.136+3554C>G (n.136+3554C>G) c.*285C>G (n.*285C>G) c.489C>G (p.Asp163Glu) c.343+3554C>G (n.343+3554C>G) c.501C>G (p.Asp167Glu) | |
| 9 | g.99132654C>T | CA466648199 | TGFBR1 | c.282C>T (p.Asp94=) c.294C>T (p.Asp98=) c.136+3554C>T (n.136+3554C>T) c.*285C>T (n.*285C>T) c.489C>T (p.Asp163=) c.343+3554C>T (n.343+3554C>T) c.501C>T (p.Asp167=) | |
| 9 | g.99132655C>A | CA374228213 | TGFBR1 | c.283C>A (p.Pro95Thr) c.295C>A (p.Pro99Thr) c.136+3555C>A (n.136+3555C>A) c.*286C>A (n.*286C>A) c.490C>A (p.Pro164Thr) c.343+3555C>A (n.343+3555C>A) c.502C>A (p.Pro168Thr) | dbSNP |
| 9 | g.99132655C= | CA1867274641 | TGFBR1 | c.283C= (p.Pro95=) c.295C= (p.Pro99=) c.136+3555C= (n.136+3555C=) c.*286C= (n.*286C=) c.490C= (p.Pro164=) c.343+3555C= (n.343+3555C=) c.502C= (p.Pro168=) | |
| 9 | g.99132655C>G | CA374228215 | TGFBR1 | c.283C>G (p.Pro95Ala) c.295C>G (p.Pro99Ala) c.136+3555C>G (n.136+3555C>G) c.*286C>G (n.*286C>G) c.490C>G (p.Pro164Ala) c.343+3555C>G (n.343+3555C>G) c.502C>G (p.Pro168Ala) | COSMIC |
| 9 | g.99132655C>T | CA10630697 | TGFBR1 | c.283C>T (p.Pro95Ser) c.295C>T (p.Pro99Ser) c.136+3555C>T (n.136+3555C>T) c.*286C>T (n.*286C>T) c.490C>T (p.Pro164Ser) c.343+3555C>T (n.343+3555C>T) c.502C>T (p.Pro168Ser) | ClinVar dbSNP |
| 9 | g.99132656C>A | CA374228217 | TGFBR1 | c.284C>A (p.Pro95His) c.296C>A (p.Pro99His) c.136+3556C>A (n.136+3556C>A) c.*287C>A (n.*287C>A) c.491C>A (p.Pro164His) c.343+3556C>A (n.343+3556C>A) c.503C>A (p.Pro168His) | |
| 9 | g.99132656C= | CA1867274647 | TGFBR1 | c.284C= (p.Pro95=) c.296C= (p.Pro99=) c.136+3556C= (n.136+3556C=) c.*287C= (n.*287C=) c.491C= (p.Pro164=) c.343+3556C= (n.343+3556C=) c.503C= (p.Pro168=) | |
| 9 | g.99132656C>G | CA374228218 | TGFBR1 | c.284C>G (p.Pro95Arg) c.296C>G (p.Pro99Arg) c.136+3556C>G (n.136+3556C>G) c.*287C>G (n.*287C>G) c.491C>G (p.Pro164Arg) c.343+3556C>G (n.343+3556C>G) c.503C>G (p.Pro168Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99132656C>T | CA374228219 | TGFBR1 | c.284C>T (p.Pro95Leu) c.296C>T (p.Pro99Leu) c.136+3556C>T (n.136+3556C>T) c.*287C>T (n.*287C>T) c.491C>T (p.Pro164Leu) c.343+3556C>T (n.343+3556C>T) c.503C>T (p.Pro168Leu) | |
| 9 | g.99132657T>A | CA466648091 | TGFBR1 | c.285T>A (p.Pro95=) c.297T>A (p.Pro99=) c.136+3557T>A (n.136+3557T>A) c.*288T>A (n.*288T>A) c.492T>A (p.Pro164=) c.343+3557T>A (n.343+3557T>A) c.504T>A (p.Pro168=) | |
| 9 | g.99132657T>C | CA466648092 | TGFBR1 | c.285T>C (p.Pro95=) c.297T>C (p.Pro99=) c.136+3557T>C (n.136+3557T>C) c.*288T>C (n.*288T>C) c.492T>C (p.Pro164=) c.343+3557T>C (n.343+3557T>C) c.504T>C (p.Pro168=) | |
| 9 | g.99132657T>G | CA466648093 | TGFBR1 | c.285T>G (p.Pro95=) c.297T>G (p.Pro99=) c.136+3557T>G (n.136+3557T>G) c.*288T>G (n.*288T>G) c.492T>G (p.Pro164=) c.343+3557T>G (n.343+3557T>G) c.504T>G (p.Pro168=) | |
| 9 | g.99132658T>A | CA374228220 | TGFBR1 | c.286T>A (p.Ser96Thr) c.298T>A (p.Ser100Thr) c.136+3558T>A (n.136+3558T>A) c.*289T>A (n.*289T>A) c.493T>A (p.Ser165Thr) c.343+3558T>A (n.343+3558T>A) c.505T>A (p.Ser169Thr) | |
| 9 | g.99132658T>C | CA374228221 | TGFBR1 | c.286T>C (p.Ser96Pro) c.298T>C (p.Ser100Pro) c.136+3558T>C (n.136+3558T>C) c.*289T>C (n.*289T>C) c.493T>C (p.Ser165Pro) c.343+3558T>C (n.343+3558T>C) c.505T>C (p.Ser169Pro) | |
| 9 | g.99132658T>G | CA374228222 | TGFBR1 | c.286T>G (p.Ser96Ala) c.298T>G (p.Ser100Ala) c.136+3558T>G (n.136+3558T>G) c.*289T>G (n.*289T>G) c.493T>G (p.Ser165Ala) c.343+3558T>G (n.343+3558T>G) c.505T>G (p.Ser169Ala) | |
| 9 | g.99132659C>A | CA374228224 | TGFBR1 | c.287C>A (p.Ser96Ter) c.299C>A (p.Ser100Ter) c.136+3559C>A (n.136+3559C>A) c.*290C>A (n.*290C>A) c.494C>A (p.Ser165Ter) c.343+3559C>A (n.343+3559C>A) c.506C>A (p.Ser169Ter) | |
| 9 | g.99132659C>G | CA374228227 | TGFBR1 | c.287C>G (p.Ser96Ter) c.299C>G (p.Ser100Ter) c.136+3559C>G (n.136+3559C>G) c.*290C>G (n.*290C>G) c.494C>G (p.Ser165Ter) c.343+3559C>G (n.343+3559C>G) c.506C>G (p.Ser169Ter) | |
| 9 | g.99132659C>T | CA374228226 | TGFBR1 | c.287C>T (p.Ser96Leu) c.299C>T (p.Ser100Leu) c.136+3559C>T (n.136+3559C>T) c.*290C>T (n.*290C>T) c.494C>T (p.Ser165Leu) c.343+3559C>T (n.343+3559C>T) c.506C>T (p.Ser169Leu) | |
| 9 | g.99132660A= | CA1867274655 | TGFBR1 | c.288A= (p.Ser96=) c.300A= (p.Ser100=) c.136+3560A= (n.136+3560A=) c.*291A= (n.*291A=) c.495A= (p.Ser165=) c.343+3560A= (n.343+3560A=) c.507A= (p.Ser169=) | |
| 9 | g.99132660A>C | CA466648097 | TGFBR1 | c.288A>C (p.Ser96=) c.300A>C (p.Ser100=) c.136+3560A>C (n.136+3560A>C) c.*291A>C (n.*291A>C) c.495A>C (p.Ser165=) c.343+3560A>C (n.343+3560A>C) c.507A>C (p.Ser169=) | dbSNP |
| 9 | g.99132660A>G | CA042157 | TGFBR1 | c.288A>G (p.Ser96=) c.300A>G (p.Ser100=) c.136+3560A>G (n.136+3560A>G) c.*291A>G (n.*291A>G) c.495A>G (p.Ser165=) c.343+3560A>G (n.343+3560A>G) c.507A>G (p.Ser169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.99132660A>T | CA466648096 | TGFBR1 | c.288A>T (p.Ser96=) c.300A>T (p.Ser100=) c.136+3560A>T (n.136+3560A>T) c.*291A>T (n.*291A>T) c.495A>T (p.Ser165=) c.343+3560A>T (n.343+3560A>T) c.507A>T (p.Ser169=) | |
| 9 | g.99132661T>A | CA374228229 | TGFBR1 | c.289T>A (p.Leu97Ile) c.301T>A (p.Leu101Ile) c.136+3561T>A (n.136+3561T>A) c.*292T>A (n.*292T>A) c.496T>A (p.Leu166Ile) c.343+3561T>A (n.343+3561T>A) c.508T>A (p.Leu170Ile) | |
| 9 | g.99132661T>C | CA466648100 | TGFBR1 | c.289T>C (p.Leu97=) c.301T>C (p.Leu101=) c.136+3561T>C (n.136+3561T>C) c.*292T>C (n.*292T>C) c.496T>C (p.Leu166=) c.343+3561T>C (n.343+3561T>C) c.508T>C (p.Leu170=) | |
| 9 | g.99132661T>G | CA374228231 | TGFBR1 | c.289T>G (p.Leu97Val) c.301T>G (p.Leu101Val) c.136+3561T>G (n.136+3561T>G) c.*292T>G (n.*292T>G) c.496T>G (p.Leu166Val) c.343+3561T>G (n.343+3561T>G) c.508T>G (p.Leu170Val) | |
| 9 | g.99132662T>A | CA374228233 | TGFBR1 | c.290T>A (p.Leu97Ter) c.302T>A (p.Leu101Ter) c.136+3562T>A (n.136+3562T>A) c.*293T>A (n.*293T>A) c.497T>A (p.Leu166Ter) c.343+3562T>A (n.343+3562T>A) c.509T>A (p.Leu170Ter) | gnomAD v4 |
| 9 | g.99132662T>C | CA374228234 | TGFBR1 | c.290T>C (p.Leu97Ser) c.302T>C (p.Leu101Ser) c.136+3562T>C (n.136+3562T>C) c.*293T>C (n.*293T>C) c.497T>C (p.Leu166Ser) c.343+3562T>C (n.343+3562T>C) c.509T>C (p.Leu170Ser) | |
| 9 | g.99132662T>G | CA374228235 | TGFBR1 | c.290T>G (p.Leu97Ter) c.302T>G (p.Leu101Ter) c.136+3562T>G (n.136+3562T>G) c.*293T>G (n.*293T>G) c.497T>G (p.Leu166Ter) c.343+3562T>G (n.343+3562T>G) c.509T>G (p.Leu170Ter) | |
| 9 | g.99132663A>C | CA374228237 | TGFBR1 | c.291A>C (p.Leu97Phe) c.303A>C (p.Leu101Phe) c.136+3563A>C (n.136+3563A>C) c.*294A>C (n.*294A>C) c.498A>C (p.Leu166Phe) c.343+3563A>C (n.343+3563A>C) c.510A>C (p.Leu170Phe) | |
| 9 | g.99132663A>G | CA466648102 | TGFBR1 | c.291A>G (p.Leu97=) c.303A>G (p.Leu101=) c.136+3563A>G (n.136+3563A>G) c.*294A>G (n.*294A>G) c.498A>G (p.Leu166=) c.343+3563A>G (n.343+3563A>G) c.510A>G (p.Leu170=) | |
| 9 | g.99132663A>T | CA374228239 | TGFBR1 | c.291A>T (p.Leu97Phe) c.303A>T (p.Leu101Phe) c.136+3563A>T (n.136+3563A>T) c.*294A>T (n.*294A>T) c.498A>T (p.Leu166Phe) c.343+3563A>T (n.343+3563A>T) c.510A>T (p.Leu170Phe) | |
| 9 | g.99132664G>A | CA374228240 | TGFBR1 | c.292G>A (p.Asp98Asn) c.304G>A (p.Asp102Asn) c.136+3564G>A (n.136+3564G>A) c.*295G>A (n.*295G>A) c.499G>A (p.Asp167Asn) c.343+3564G>A (n.343+3564G>A) c.511G>A (p.Asp171Asn) | gnomAD v4 |
| 9 | g.99132664G>C | CA042170 | TGFBR1 | c.292G>C (p.Asp98His) c.304G>C (p.Asp102His) c.136+3564G>C (n.136+3564G>C) c.*295G>C (n.*295G>C) c.499G>C (p.Asp167His) c.343+3564G>C (n.343+3564G>C) c.511G>C (p.Asp171His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.99132664G= | CA1867274663 | TGFBR1 | c.292G= (p.Asp98=) c.304G= (p.Asp102=) c.136+3564G= (n.136+3564G=) c.*295G= (n.*295G=) c.499G= (p.Asp167=) c.343+3564G= (n.343+3564G=) c.511G= (p.Asp171=) | |
| 9 | g.99132664G>T | CA374228242 | TGFBR1 | c.292G>T (p.Asp98Tyr) c.304G>T (p.Asp102Tyr) c.136+3564G>T (n.136+3564G>T) c.*295G>T (n.*295G>T) c.499G>T (p.Asp167Tyr) c.343+3564G>T (n.343+3564G>T) c.511G>T (p.Asp171Tyr) | |
| 9 | g.99132665A= | CA1867274673 | TGFBR1 | c.293A= (p.Asp98=) c.305A= (p.Asp102=) c.136+3565A= (n.136+3565A=) c.*296A= (n.*296A=) c.500A= (p.Asp167=) c.343+3565A= (n.343+3565A=) c.512A= (p.Asp171=) | |
| 9 | g.99132665A>C | CA16612909 | TGFBR1 | c.293A>C (p.Asp98Ala) c.305A>C (p.Asp102Ala) c.136+3565A>C (n.136+3565A>C) c.*296A>C (n.*296A>C) c.500A>C (p.Asp167Ala) c.343+3565A>C (n.343+3565A>C) c.512A>C (p.Asp171Ala) | ClinVar dbSNP |
| 9 | g.99132665A>G | CA374228246 | TGFBR1 | c.293A>G (p.Asp98Gly) c.305A>G (p.Asp102Gly) c.136+3565A>G (n.136+3565A>G) c.*296A>G (n.*296A>G) c.500A>G (p.Asp167Gly) c.343+3565A>G (n.343+3565A>G) c.512A>G (p.Asp171Gly) | |
| 9 | g.99132665A>T | CA374228243 | TGFBR1 | c.293A>T (p.Asp98Val) c.305A>T (p.Asp102Val) c.136+3565A>T (n.136+3565A>T) c.*296A>T (n.*296A>T) c.500A>T (p.Asp167Val) c.343+3565A>T (n.343+3565A>T) c.512A>T (p.Asp171Val) | gnomAD v4 |
| 9 | g.99132666T>A | CA374228247 | TGFBR1 | c.294T>A (p.Asp98Glu) c.306T>A (p.Asp102Glu) c.136+3566T>A (n.136+3566T>A) c.*297T>A (n.*297T>A) c.501T>A (p.Asp167Glu) c.343+3566T>A (n.343+3566T>A) c.513T>A (p.Asp171Glu) | |
| 9 | g.99132666T>C | CA466648107 | TGFBR1 | c.294T>C (p.Asp98=) c.306T>C (p.Asp102=) c.136+3566T>C (n.136+3566T>C) c.*297T>C (n.*297T>C) c.501T>C (p.Asp167=) c.343+3566T>C (n.343+3566T>C) c.513T>C (p.Asp171=) | |
| 9 | g.99132666T>G | CA374228248 | TGFBR1 | c.294T>G (p.Asp98Glu) c.306T>G (p.Asp102Glu) c.136+3566T>G (n.136+3566T>G) c.*297T>G (n.*297T>G) c.501T>G (p.Asp167Glu) c.343+3566T>G (n.343+3566T>G) c.513T>G (p.Asp171Glu) | |
| 9 | g.99132667C>A | CA374228249 | TGFBR1 | c.295C>A (p.Arg99Ser) c.307C>A (p.Arg103Ser) c.136+3567C>A (n.136+3567C>A) c.*298C>A (n.*298C>A) c.502C>A (p.Arg168Ser) c.343+3567C>A (n.343+3567C>A) c.514C>A (p.Arg172Ser) | |
| 9 | g.99132667C= | CA1867274685 | TGFBR1 | c.295C= (p.Arg99=) c.307C= (p.Arg103=) c.136+3567C= (n.136+3567C=) c.*298C= (n.*298C=) c.502C= (p.Arg168=) c.343+3567C= (n.343+3567C=) c.514C= (p.Arg172=) | |
| 9 | g.99132667C>G | CA374228251 | TGFBR1 | c.295C>G (p.Arg99Gly) c.307C>G (p.Arg103Gly) c.136+3567C>G (n.136+3567C>G) c.*298C>G (n.*298C>G) c.502C>G (p.Arg168Gly) c.343+3567C>G (n.343+3567C>G) c.514C>G (p.Arg172Gly) | |
| 9 | g.99132667C>T | CA16043783 | TGFBR1 | c.295C>T (p.Arg99Cys) c.307C>T (p.Arg103Cys) c.136+3567C>T (n.136+3567C>T) c.*298C>T (n.*298C>T) c.502C>T (p.Arg168Cys) c.343+3567C>T (n.343+3567C>T) c.514C>T (p.Arg172Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99132668G>A | CA042184 | TGFBR1 | c.296G>A (p.Arg99His) c.308G>A (p.Arg103His) c.136+3568G>A (n.136+3568G>A) c.*299G>A (n.*299G>A) c.503G>A (p.Arg168His) c.343+3568G>A (n.343+3568G>A) c.515G>A (p.Arg172His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.99132668G>C | CA374228254 | TGFBR1 | c.296G>C (p.Arg99Pro) c.308G>C (p.Arg103Pro) c.136+3568G>C (n.136+3568G>C) c.*299G>C (n.*299G>C) c.503G>C (p.Arg168Pro) c.343+3568G>C (n.343+3568G>C) c.515G>C (p.Arg172Pro) | |
| 9 | g.99132668G= | CA1867274692 | TGFBR1 | c.296G= (p.Arg99=) c.308G= (p.Arg103=) c.136+3568G= (n.136+3568G=) c.*299G= (n.*299G=) c.503G= (p.Arg168=) c.343+3568G= (n.343+3568G=) c.515G= (p.Arg172=) | |
| 9 | g.99132668G>T | CA374228255 | TGFBR1 | c.296G>T (p.Arg99Leu) c.308G>T (p.Arg103Leu) c.136+3568G>T (n.136+3568G>T) c.*299G>T (n.*299G>T) c.503G>T (p.Arg168Leu) c.343+3568G>T (n.343+3568G>T) c.515G>T (p.Arg172Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.99132669C>A | CA466648110 | TGFBR1 | c.297C>A (p.Arg99=) c.309C>A (p.Arg103=) c.136+3569C>A (n.136+3569C>A) c.*300C>A (n.*300C>A) c.504C>A (p.Arg168=) c.343+3569C>A (n.343+3569C>A) c.516C>A (p.Arg172=) | |
| 9 | g.99132669C= | CA1867274699 | TGFBR1 | c.297C= (p.Arg99=) c.309C= (p.Arg103=) c.136+3569C= (n.136+3569C=) c.*300C= (n.*300C=) c.504C= (p.Arg168=) c.343+3569C= (n.343+3569C=) c.516C= (p.Arg172=) | |
| 9 | g.99132669C>G | CA466648111 | TGFBR1 | c.297C>G (p.Arg99=) c.309C>G (p.Arg103=) c.136+3569C>G (n.136+3569C>G) c.*300C>G (n.*300C>G) c.504C>G (p.Arg168=) c.343+3569C>G (n.343+3569C>G) c.516C>G (p.Arg172=) | |
| 9 | g.99132669C>T | CA466648112 | TGFBR1 | c.297C>T (p.Arg99=) c.309C>T (p.Arg103=) c.136+3569C>T (n.136+3569C>T) c.*300C>T (n.*300C>T) c.504C>T (p.Arg168=) c.343+3569C>T (n.343+3569C>T) c.516C>T (p.Arg172=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99132670C>A | CA374228257 | TGFBR1 | c.298C>A (p.Pro100Thr) c.310C>A (p.Pro104Thr) c.136+3570C>A (n.136+3570C>A) c.*301C>A (n.*301C>A) c.505C>A (p.Pro169Thr) c.343+3570C>A (n.343+3570C>A) c.517C>A (p.Pro173Thr) | |
| 9 | g.99132670C= | CA1867274704 | TGFBR1 | c.298C= (p.Pro100=) c.310C= (p.Pro104=) c.136+3570C= (n.136+3570C=) c.*301C= (n.*301C=) c.505C= (p.Pro169=) c.343+3570C= (n.343+3570C=) c.517C= (p.Pro173=) | |
| 9 | g.99132670C>G | CA374228258 | TGFBR1 | c.298C>G (p.Pro100Ala) c.310C>G (p.Pro104Ala) c.136+3570C>G (n.136+3570C>G) c.*301C>G (n.*301C>G) c.505C>G (p.Pro169Ala) c.343+3570C>G (n.343+3570C>G) c.517C>G (p.Pro173Ala) | ClinVar dbSNP gnomAD v4 |
| 9 | g.99132670C>T | CA374228259 | TGFBR1 | c.298C>T (p.Pro100Ser) c.310C>T (p.Pro104Ser) c.136+3570C>T (n.136+3570C>T) c.*301C>T (n.*301C>T) c.505C>T (p.Pro169Ser) c.343+3570C>T (n.343+3570C>T) c.517C>T (p.Pro173Ser) | dbSNP |
| 9 | g.99132670_99132672del | CA063741 | TGFBR1 | c.298_300del (p.Pro100del) c.310_312del (p.Pro104del) c.136+3570_136+3572del (n.136+3570_136+3572del) c.*301_*303del (n.*301_*303del) c.505_507del (p.Pro169del) c.343+3570_343+3572del (n.343+3570_343+3572del) c.517_519del (p.Pro173del) | |
| 9 | g.99132671C>A | CA374228260 | TGFBR1 | c.299C>A (p.Pro100His) c.311C>A (p.Pro104His) c.136+3571C>A (n.136+3571C>A) c.*302C>A (n.*302C>A) c.506C>A (p.Pro169His) c.343+3571C>A (n.343+3571C>A) c.518C>A (p.Pro173His) | dbSNP |
| 9 | g.99132671C= | CA1867274707 | TGFBR1 | c.299C= (p.Pro100=) c.311C= (p.Pro104=) c.136+3571C= (n.136+3571C=) c.*302C= (n.*302C=) c.506C= (p.Pro169=) c.343+3571C= (n.343+3571C=) c.518C= (p.Pro173=) | |
| 9 | g.99132671C>G | CA196885707 | TGFBR1 | c.299C>G (p.Pro100Arg) c.311C>G (p.Pro104Arg) c.136+3571C>G (n.136+3571C>G) c.*302C>G (n.*302C>G) c.506C>G (p.Pro169Arg) c.343+3571C>G (n.343+3571C>G) c.518C>G (p.Pro173Arg) | dbSNP gnomAD v4 |
| 9 | g.99132671C>T | CA374228262 | TGFBR1 | c.299C>T (p.Pro100Leu) c.311C>T (p.Pro104Leu) c.136+3571C>T (n.136+3571C>T) c.*302C>T (n.*302C>T) c.506C>T (p.Pro169Leu) c.343+3571C>T (n.343+3571C>T) c.518C>T (p.Pro173Leu) | |
| 9 | g.99132672T>A | CA466648114 | TGFBR1 | c.300T>A (p.Pro100=) c.312T>A (p.Pro104=) c.136+3572T>A (n.136+3572T>A) c.*303T>A (n.*303T>A) c.507T>A (p.Pro169=) c.343+3572T>A (n.343+3572T>A) c.519T>A (p.Pro173=) | |
| 9 | g.99132672T>C | CA042197 | TGFBR1 | c.300T>C (p.Pro100=) c.312T>C (p.Pro104=) c.136+3572T>C (n.136+3572T>C) c.*303T>C (n.*303T>C) c.507T>C (p.Pro169=) c.343+3572T>C (n.343+3572T>C) c.519T>C (p.Pro173=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.99132672T>G | CA466648115 | TGFBR1 | c.300T>G (p.Pro100=) c.312T>G (p.Pro104=) c.136+3572T>G (n.136+3572T>G) c.*303T>G (n.*303T>G) c.507T>G (p.Pro169=) c.343+3572T>G (n.343+3572T>G) c.519T>G (p.Pro173=) | |
| 9 | g.99132672T= | CA1867274710 | TGFBR1 | c.300T= (p.Pro100=) c.312T= (p.Pro104=) c.136+3572T= (n.136+3572T=) c.*303T= (n.*303T=) c.507T= (p.Pro169=) c.343+3572T= (n.343+3572T=) c.519T= (p.Pro173=) | |
| 9 | g.99132673T>A | CA374228265 | TGFBR1 | c.301T>A (p.Phe101Ile) c.313T>A (p.Phe105Ile) c.136+3573T>A (n.136+3573T>A) c.*304T>A (n.*304T>A) c.508T>A (p.Phe170Ile) c.343+3573T>A (n.343+3573T>A) c.520T>A (p.Phe174Ile) | |
| 9 | g.99132673T>C | CA374228266 | TGFBR1 | c.301T>C (p.Phe101Leu) c.313T>C (p.Phe105Leu) c.136+3573T>C (n.136+3573T>C) c.*304T>C (n.*304T>C) c.508T>C (p.Phe170Leu) c.343+3573T>C (n.343+3573T>C) c.520T>C (p.Phe174Leu) | |
| 9 | g.99132673T>G | CA374228267 | TGFBR1 | c.301T>G (p.Phe101Val) c.313T>G (p.Phe105Val) c.136+3573T>G (n.136+3573T>G) c.*304T>G (n.*304T>G) c.508T>G (p.Phe170Val) c.343+3573T>G (n.343+3573T>G) c.520T>G (p.Phe174Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99132673T= | CA1867274714 | TGFBR1 | c.301T= (p.Phe101=) c.313T= (p.Phe105=) c.136+3573T= (n.136+3573T=) c.*304T= (n.*304T=) c.508T= (p.Phe170=) c.343+3573T= (n.343+3573T=) c.520T= (p.Phe174=) | |
| 9 | g.99132674T>A | CA374228270 | TGFBR1 | c.302T>A (p.Phe101Tyr) c.314T>A (p.Phe105Tyr) c.136+3574T>A (n.136+3574T>A) c.*305T>A (n.*305T>A) c.509T>A (p.Phe170Tyr) c.343+3574T>A (n.343+3574T>A) c.521T>A (p.Phe174Tyr) | |
| 9 | g.99132674T>C | CA063720 | TGFBR1 | c.302T>C (p.Phe101Ser) c.314T>C (p.Phe105Ser) c.136+3574T>C (n.136+3574T>C) c.*305T>C (n.*305T>C) c.509T>C (p.Phe170Ser) c.343+3574T>C (n.343+3574T>C) c.521T>C (p.Phe174Ser) | |
| 9 | g.99132674T>G | CA374228272 | TGFBR1 | c.302T>G (p.Phe101Cys) c.314T>G (p.Phe105Cys) c.136+3574T>G (n.136+3574T>G) c.*305T>G (n.*305T>G) c.509T>G (p.Phe170Cys) c.343+3574T>G (n.343+3574T>G) c.521T>G (p.Phe174Cys) | |
| 9 | g.99132675T>A | CA374228273 | TGFBR1 | c.303T>A (p.Phe101Leu) c.315T>A (p.Phe105Leu) c.136+3575T>A (n.136+3575T>A) c.*306T>A (n.*306T>A) c.510T>A (p.Phe170Leu) c.343+3575T>A (n.343+3575T>A) c.522T>A (p.Phe174Leu) | |
| 9 | g.99132675T>C | CA466648116 | TGFBR1 | c.303T>C (p.Phe101=) c.315T>C (p.Phe105=) c.136+3575T>C (n.136+3575T>C) c.*306T>C (n.*306T>C) c.510T>C (p.Phe170=) c.343+3575T>C (n.343+3575T>C) c.522T>C (p.Phe174=) | |
| 9 | g.99132675T>G | CA374228274 | TGFBR1 | c.303T>G (p.Phe101Leu) c.315T>G (p.Phe105Leu) c.136+3575T>G (n.136+3575T>G) c.*306T>G (n.*306T>G) c.510T>G (p.Phe170Leu) c.343+3575T>G (n.343+3575T>G) c.522T>G (p.Phe174Leu) | |
| 9 | g.99132676A= | CA1867274717 | TGFBR1 | c.304A= (p.Ile102=) c.316A= (p.Ile106=) c.136+3576A= (n.136+3576A=) c.*307A= (n.*307A=) c.511A= (p.Ile171=) c.343+3576A= (n.343+3576A=) c.523A= (p.Ile175=) | |
| 9 | g.99132676A>C | CA374228276 | TGFBR1 | c.304A>C (p.Ile102Leu) c.316A>C (p.Ile106Leu) c.136+3576A>C (n.136+3576A>C) c.*307A>C (n.*307A>C) c.511A>C (p.Ile171Leu) c.343+3576A>C (n.343+3576A>C) c.523A>C (p.Ile175Leu) | gnomAD v4 |
| 9 | g.99132676A>G | CA374228278 | TGFBR1 | c.304A>G (p.Ile102Val) c.316A>G (p.Ile106Val) c.136+3576A>G (n.136+3576A>G) c.*307A>G (n.*307A>G) c.511A>G (p.Ile171Val) c.343+3576A>G (n.343+3576A>G) c.523A>G (p.Ile175Val) | dbSNP |
| 9 | g.99132676A>T | CA374228280 | TGFBR1 | c.304A>T (p.Ile102Phe) c.316A>T (p.Ile106Phe) c.136+3576A>T (n.136+3576A>T) c.*307A>T (n.*307A>T) c.511A>T (p.Ile171Phe) c.343+3576A>T (n.343+3576A>T) c.523A>T (p.Ile175Phe) | |
| 9 | g.99132677T>A | CA374228282 | TGFBR1 | c.305T>A (p.Ile102Asn) c.317T>A (p.Ile106Asn) c.136+3577T>A (n.136+3577T>A) c.*308T>A (n.*308T>A) c.512T>A (p.Ile171Asn) c.343+3577T>A (n.343+3577T>A) c.524T>A (p.Ile175Asn) | |
| 9 | g.99132677T>C | CA374228283 | TGFBR1 | c.305T>C (p.Ile102Thr) c.317T>C (p.Ile106Thr) c.136+3577T>C (n.136+3577T>C) c.*308T>C (n.*308T>C) c.512T>C (p.Ile171Thr) c.343+3577T>C (n.343+3577T>C) c.524T>C (p.Ile175Thr) | |
| 9 | g.99132677T>G | CA374228284 | TGFBR1 | c.305T>G (p.Ile102Ser) c.317T>G (p.Ile106Ser) c.136+3577T>G (n.136+3577T>G) c.*308T>G (n.*308T>G) c.512T>G (p.Ile171Ser) c.343+3577T>G (n.343+3577T>G) c.524T>G (p.Ile175Ser) | |
| 9 | g.99132678T>A | CA466648119 | TGFBR1 | c.306T>A (p.Ile102=) c.318T>A (p.Ile106=) c.136+3578T>A (n.136+3578T>A) c.*309T>A (n.*309T>A) c.513T>A (p.Ile171=) c.343+3578T>A (n.343+3578T>A) c.525T>A (p.Ile175=) | |
| 9 | g.99132678T>C | CA466648120 | TGFBR1 | c.306T>C (p.Ile102=) c.318T>C (p.Ile106=) c.136+3578T>C (n.136+3578T>C) c.*309T>C (n.*309T>C) c.513T>C (p.Ile171=) c.343+3578T>C (n.343+3578T>C) c.525T>C (p.Ile175=) | |
| 9 | g.99132678T>G | CA374228286 | TGFBR1 | c.306T>G (p.Ile102Met) c.318T>G (p.Ile106Met) c.136+3578T>G (n.136+3578T>G) c.*309T>G (n.*309T>G) c.513T>G (p.Ile171Met) c.343+3578T>G (n.343+3578T>G) c.525T>G (p.Ile175Met) | |
| 9 | g.99132679T>A | CA374228290 | TGFBR1 | c.307T>A (p.Ser103Thr) c.319T>A (p.Ser107Thr) c.136+3579T>A (n.136+3579T>A) c.*310T>A (n.*310T>A) c.514T>A (p.Ser172Thr) c.343+3579T>A (n.343+3579T>A) c.526T>A (p.Ser176Thr) | |
| 9 | g.99132679T>C | CA374228291 | TGFBR1 | c.307T>C (p.Ser103Pro) c.319T>C (p.Ser107Pro) c.136+3579T>C (n.136+3579T>C) c.*310T>C (n.*310T>C) c.514T>C (p.Ser172Pro) c.343+3579T>C (n.343+3579T>C) c.526T>C (p.Ser176Pro) | |
| 9 | g.99132679T>G | CA374228288 | TGFBR1 | c.307T>G (p.Ser103Ala) c.319T>G (p.Ser107Ala) c.136+3579T>G (n.136+3579T>G) c.*310T>G (n.*310T>G) c.514T>G (p.Ser172Ala) c.343+3579T>G (n.343+3579T>G) c.526T>G (p.Ser176Ala) | |
| 9 | g.99132680C>A | CA374228293 | TGFBR1 | c.308C>A (p.Ser103Ter) c.320C>A (p.Ser107Ter) c.136+3580C>A (n.136+3580C>A) c.*311C>A (n.*311C>A) c.515C>A (p.Ser172Ter) c.343+3580C>A (n.343+3580C>A) c.527C>A (p.Ser176Ter) | |
| 9 | g.99132680C>G | CA374228296 | TGFBR1 | c.308C>G (p.Ser103Ter) c.320C>G (p.Ser107Ter) c.136+3580C>G (n.136+3580C>G) c.*311C>G (n.*311C>G) c.515C>G (p.Ser172Ter) c.343+3580C>G (n.343+3580C>G) c.527C>G (p.Ser176Ter) | |
| 9 | g.99132680C>T | CA374228295 | TGFBR1 | c.308C>T (p.Ser103Leu) c.320C>T (p.Ser107Leu) c.136+3580C>T (n.136+3580C>T) c.*311C>T (n.*311C>T) c.515C>T (p.Ser172Leu) c.343+3580C>T (n.343+3580C>T) c.527C>T (p.Ser176Leu) | gnomAD v4 |
| 9 | g.99132681A= | CA1867274725 | TGFBR1 | c.309A= (p.Ser103=) c.321A= (p.Ser107=) c.136+3581A= (n.136+3581A=) c.*312A= (n.*312A=) c.516A= (p.Ser172=) c.343+3581A= (n.343+3581A=) c.528A= (p.Ser176=) | |
| 9 | g.99132681A>C | CA466648123 | TGFBR1 | c.309A>C (p.Ser103=) c.321A>C (p.Ser107=) c.136+3581A>C (n.136+3581A>C) c.*312A>C (n.*312A>C) c.516A>C (p.Ser172=) c.343+3581A>C (n.343+3581A>C) c.528A>C (p.Ser176=) | |
| 9 | g.99132681A>G | CA042211 | TGFBR1 | c.309A>G (p.Ser103=) c.321A>G (p.Ser107=) c.136+3581A>G (n.136+3581A>G) c.*312A>G (n.*312A>G) c.516A>G (p.Ser172=) c.343+3581A>G (n.343+3581A>G) c.528A>G (p.Ser176=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99132681A>T | CA466648124 | TGFBR1 | c.309A>T (p.Ser103=) c.321A>T (p.Ser107=) c.136+3581A>T (n.136+3581A>T) c.*312A>T (n.*312A>T) c.516A>T (p.Ser172=) c.343+3581A>T (n.343+3581A>T) c.528A>T (p.Ser176=) | |
| 9 | g.99132681dup | CA2573144944 | TGFBR1 | c.309dup (p.Glu104ArgfsTer11) c.321dup (p.Glu108ArgfsTer11) c.136+3581dup (n.136+3581dup) c.*312dup (n.*312dup) c.516dup (p.Glu173ArgfsTer11) c.343+3581dup (n.343+3581dup) c.321dup (p.Glu108ArgfsTer?) c.528dup (p.Glu177ArgfsTer11) | ClinVar dbSNP |
| 9 | g.99132682G>A | CA374228299 | TGFBR1 | c.310G>A (p.Glu104Lys) c.322G>A (p.Glu108Lys) c.136+3582G>A (n.136+3582G>A) c.*313G>A (n.*313G>A) c.517G>A (p.Glu173Lys) c.343+3582G>A (n.343+3582G>A) c.529G>A (p.Glu177Lys) | |
| 9 | g.99132682G>C | CA374228298 | TGFBR1 | c.310G>C (p.Glu104Gln) c.322G>C (p.Glu108Gln) c.136+3582G>C (n.136+3582G>C) c.*313G>C (n.*313G>C) c.517G>C (p.Glu173Gln) c.343+3582G>C (n.343+3582G>C) c.529G>C (p.Glu177Gln) | |
| 9 | g.99132682G>T | CA374228300 | TGFBR1 | c.310G>T (p.Glu104Ter) c.322G>T (p.Glu108Ter) c.136+3582G>T (n.136+3582G>T) c.*313G>T (n.*313G>T) c.517G>T (p.Glu173Ter) c.343+3582G>T (n.343+3582G>T) c.529G>T (p.Glu177Ter) | |
| 9 | g.99132683A>C | CA374228302 | TGFBR1 | c.311A>C (p.Glu104Ala) c.323A>C (p.Glu108Ala) c.136+3583A>C (n.136+3583A>C) c.*314A>C (n.*314A>C) c.518A>C (p.Glu173Ala) c.343+3583A>C (n.343+3583A>C) c.530A>C (p.Glu177Ala) | |
| 9 | g.99132683A>G | CA374228304 | TGFBR1 | c.311A>G (p.Glu104Gly) c.323A>G (p.Glu108Gly) c.136+3583A>G (n.136+3583A>G) c.*314A>G (n.*314A>G) c.518A>G (p.Glu173Gly) c.343+3583A>G (n.343+3583A>G) c.530A>G (p.Glu177Gly) | |
| 9 | g.99132683A>T | CA374228306 | TGFBR1 | c.311A>T (p.Glu104Val) c.323A>T (p.Glu108Val) c.136+3583A>T (n.136+3583A>T) c.*314A>T (n.*314A>T) c.518A>T (p.Glu173Val) c.343+3583A>T (n.343+3583A>T) c.530A>T (p.Glu177Val) | |
| 9 | g.99132684G>A | CA466648128 | TGFBR1 | c.312G>A (p.Glu104=) c.324G>A (p.Glu108=) c.136+3584G>A (n.136+3584G>A) c.*315G>A (n.*315G>A) c.519G>A (p.Glu173=) c.343+3584G>A (n.343+3584G>A) c.531G>A (p.Glu177=) | |
| 9 | g.99132684G>C | CA374228307 | TGFBR1 | c.312G>C (p.Glu104Asp) c.324G>C (p.Glu108Asp) c.136+3584G>C (n.136+3584G>C) c.*315G>C (n.*315G>C) c.519G>C (p.Glu173Asp) c.343+3584G>C (n.343+3584G>C) c.531G>C (p.Glu177Asp) | |
| 9 | g.99132684G>T | CA374228308 | TGFBR1 | c.312G>T (p.Glu104Asp) c.324G>T (p.Glu108Asp) c.136+3584G>T (n.136+3584G>T) c.*315G>T (n.*315G>T) c.519G>T (p.Glu173Asp) c.343+3584G>T (n.343+3584G>T) c.531G>T (p.Glu177Asp) | |
| 9 | g.99132685G>A | CA374228310 | TGFBR1 | c.313G>A (p.Gly105Ser) c.325G>A (p.Gly109Ser) c.136+3585G>A (n.136+3585G>A) c.*316G>A (n.*316G>A) c.520G>A (p.Gly174Ser) c.343+3585G>A (n.343+3585G>A) c.532G>A (p.Gly178Ser) | COSMIC |
| 9 | g.99132685G>C | CA374228311 | TGFBR1 | c.313G>C (p.Gly105Arg) c.325G>C (p.Gly109Arg) c.136+3585G>C (n.136+3585G>C) c.*316G>C (n.*316G>C) c.520G>C (p.Gly174Arg) c.343+3585G>C (n.343+3585G>C) c.532G>C (p.Gly178Arg) | |
| 9 | g.99132685G>T | CA374228312 | TGFBR1 | c.313G>T (p.Gly105Cys) c.325G>T (p.Gly109Cys) c.136+3585G>T (n.136+3585G>T) c.*316G>T (n.*316G>T) c.520G>T (p.Gly174Cys) c.343+3585G>T (n.343+3585G>T) c.532G>T (p.Gly178Cys) | |
| 9 | g.99132686G>A | CA374228313 | TGFBR1 | c.314G>A (p.Gly105Asp) c.326G>A (p.Gly109Asp) c.136+3586G>A (n.136+3586G>A) c.*317G>A (n.*317G>A) c.521G>A (p.Gly174Asp) c.343+3586G>A (n.343+3586G>A) c.533G>A (p.Gly178Asp) | |
| 9 | g.99132686G>C | CA374228314 | TGFBR1 | c.314G>C (p.Gly105Ala) c.326G>C (p.Gly109Ala) c.136+3586G>C (n.136+3586G>C) c.*317G>C (n.*317G>C) c.521G>C (p.Gly174Ala) c.343+3586G>C (n.343+3586G>C) c.533G>C (p.Gly178Ala) | |
| 9 | g.99132686G= | CA1867274729 | TGFBR1 | c.314G= (p.Gly105=) c.326G= (p.Gly109=) c.136+3586G= (n.136+3586G=) c.*317G= (n.*317G=) c.521G= (p.Gly174=) c.343+3586G= (n.343+3586G=) c.533G= (p.Gly178=) | |
| 9 | g.99132686G>T | CA008534 | TGFBR1 | c.314G>T (p.Gly105Val) c.326G>T (p.Gly109Val) c.136+3586G>T (n.136+3586G>T) c.*317G>T (n.*317G>T) c.521G>T (p.Gly174Val) c.343+3586G>T (n.343+3586G>T) c.533G>T (p.Gly178Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.99132687T>A | CA466648130 | TGFBR1 | c.315T>A (p.Gly105=) c.327T>A (p.Gly109=) c.136+3587T>A (n.136+3587T>A) c.*318T>A (n.*318T>A) c.522T>A (p.Gly174=) c.343+3587T>A (n.343+3587T>A) c.534T>A (p.Gly178=) | |
| 9 | g.99132687T>C | CA466648131 | TGFBR1 | c.315T>C (p.Gly105=) c.327T>C (p.Gly109=) c.136+3587T>C (n.136+3587T>C) c.*318T>C (n.*318T>C) c.522T>C (p.Gly174=) c.343+3587T>C (n.343+3587T>C) c.534T>C (p.Gly178=) | |
| 9 | g.99132687T>G | CA466648132 | TGFBR1 | c.315T>G (p.Gly105=) c.327T>G (p.Gly109=) c.136+3587T>G (n.136+3587T>G) c.*318T>G (n.*318T>G) c.522T>G (p.Gly174=) c.343+3587T>G (n.343+3587T>G) c.534T>G (p.Gly178=) | |
| 9 | g.99132688A= | CA1867274735 | TGFBR1 | c.316A= (p.Thr106=) c.328A= (p.Thr110=) c.136+3588A= (n.136+3588A=) c.*319A= (n.*319A=) c.523A= (p.Thr175=) c.343+3588A= (n.343+3588A=) c.535A= (p.Thr179=) | |
| 9 | g.99132688A>C | CA374228316 | TGFBR1 | c.316A>C (p.Thr106Pro) c.328A>C (p.Thr110Pro) c.136+3588A>C (n.136+3588A>C) c.*319A>C (n.*319A>C) c.523A>C (p.Thr175Pro) c.343+3588A>C (n.343+3588A>C) c.535A>C (p.Thr179Pro) | |
| 9 | g.99132688A>G | CA374228315 | TGFBR1 | c.316A>G (p.Thr106Ala) c.328A>G (p.Thr110Ala) c.136+3588A>G (n.136+3588A>G) c.*319A>G (n.*319A>G) c.523A>G (p.Thr175Ala) c.343+3588A>G (n.343+3588A>G) c.535A>G (p.Thr179Ala) | gnomAD v4 |
| 9 | g.99132688A>T | CA196885718 | TGFBR1 | c.316A>T (p.Thr106Ser) c.328A>T (p.Thr110Ser) c.136+3588A>T (n.136+3588A>T) c.*319A>T (n.*319A>T) c.523A>T (p.Thr175Ser) c.343+3588A>T (n.343+3588A>T) c.535A>T (p.Thr179Ser) | dbSNP gnomAD v4 |
| 9 | g.99132689C>A | CA374228318 | TGFBR1 | c.317C>A (p.Thr106Asn) c.329C>A (p.Thr110Asn) c.136+3589C>A (n.136+3589C>A) c.*320C>A (n.*320C>A) c.524C>A (p.Thr175Asn) c.343+3589C>A (n.343+3589C>A) c.536C>A (p.Thr179Asn) | |
| 9 | g.99132689C>G | CA374228319 | TGFBR1 | c.317C>G (p.Thr106Ser) c.329C>G (p.Thr110Ser) c.136+3589C>G (n.136+3589C>G) c.*320C>G (n.*320C>G) c.524C>G (p.Thr175Ser) c.343+3589C>G (n.343+3589C>G) c.536C>G (p.Thr179Ser) | |
| 9 | g.99132689C>T | CA374228321 | TGFBR1 | c.317C>T (p.Thr106Ile) c.329C>T (p.Thr110Ile) c.136+3589C>T (n.136+3589C>T) c.*320C>T (n.*320C>T) c.524C>T (p.Thr175Ile) c.343+3589C>T (n.343+3589C>T) c.536C>T (p.Thr179Ile) | dbSNP |
| 9 | g.99132690T>A | CA466648135 | TGFBR1 | c.318T>A (p.Thr106=) c.330T>A (p.Thr110=) c.136+3590T>A (n.136+3590T>A) c.*321T>A (n.*321T>A) c.525T>A (p.Thr175=) c.343+3590T>A (n.343+3590T>A) c.537T>A (p.Thr179=) | ClinVar dbSNP |
| 9 | g.99132690T>C | CA466648136 | TGFBR1 | c.318T>C (p.Thr106=) c.330T>C (p.Thr110=) c.136+3590T>C (n.136+3590T>C) c.*321T>C (n.*321T>C) c.525T>C (p.Thr175=) c.343+3590T>C (n.343+3590T>C) c.537T>C (p.Thr179=) | |
| 9 | g.99132690T>G | CA466648137 | TGFBR1 | c.318T>G (p.Thr106=) c.330T>G (p.Thr110=) c.136+3590T>G (n.136+3590T>G) c.*321T>G (n.*321T>G) c.525T>G (p.Thr175=) c.343+3590T>G (n.343+3590T>G) c.537T>G (p.Thr179=) | |
| 9 | g.99132690T= | CA1867274741 | TGFBR1 | c.318T= (p.Thr106=) c.330T= (p.Thr110=) c.136+3590T= (n.136+3590T=) c.*321T= (n.*321T=) c.525T= (p.Thr175=) c.343+3590T= (n.343+3590T=) c.537T= (p.Thr179=) | |
| 9 | g.99132691A>C | CA374228322 | TGFBR1 | c.319A>C (p.Thr107Pro) c.331A>C (p.Thr111Pro) c.136+3591A>C (n.136+3591A>C) c.*322A>C (n.*322A>C) c.526A>C (p.Thr176Pro) c.343+3591A>C (n.343+3591A>C) c.538A>C (p.Thr180Pro) | |
| 9 | g.99132691A>G | CA374228323 | TGFBR1 | c.319A>G (p.Thr107Ala) c.331A>G (p.Thr111Ala) c.136+3591A>G (n.136+3591A>G) c.*322A>G (n.*322A>G) c.526A>G (p.Thr176Ala) c.343+3591A>G (n.343+3591A>G) c.538A>G (p.Thr180Ala) | |
| 9 | g.99132691A>T | CA374228324 | TGFBR1 | c.319A>T (p.Thr107Ser) c.331A>T (p.Thr111Ser) c.136+3591A>T (n.136+3591A>T) c.*322A>T (n.*322A>T) c.526A>T (p.Thr176Ser) c.343+3591A>T (n.343+3591A>T) c.538A>T (p.Thr180Ser) | |
| 9 | g.99132692C>A | CA374228325 | TGFBR1 | c.320C>A (p.Thr107Lys) c.332C>A (p.Thr111Lys) c.136+3592C>A (n.136+3592C>A) c.*323C>A (n.*323C>A) c.527C>A (p.Thr176Lys) c.343+3592C>A (n.343+3592C>A) c.539C>A (p.Thr180Lys) | |
| 9 | g.99132692C= | CA1867274750 | TGFBR1 | c.320C= (p.Thr107=) c.332C= (p.Thr111=) c.136+3592C= (n.136+3592C=) c.*323C= (n.*323C=) c.527C= (p.Thr176=) c.343+3592C= (n.343+3592C=) c.539C= (p.Thr180=) | |
| 9 | g.99132692C>G | CA374228326 | TGFBR1 | c.320C>G (p.Thr107Arg) c.332C>G (p.Thr111Arg) c.136+3592C>G (n.136+3592C>G) c.*323C>G (n.*323C>G) c.527C>G (p.Thr176Arg) c.343+3592C>G (n.343+3592C>G) c.539C>G (p.Thr180Arg) | gnomAD v4 |
| 9 | g.99132692C>T | CA042247 | TGFBR1 | c.320C>T (p.Thr107Met) c.332C>T (p.Thr111Met) c.136+3592C>T (n.136+3592C>T) c.*323C>T (n.*323C>T) c.527C>T (p.Thr176Met) c.343+3592C>T (n.343+3592C>T) c.539C>T (p.Thr180Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.99132693G>A | CA008566 | TGFBR1 | c.321G>A (p.Thr107=) c.333G>A (p.Thr111=) c.136+3593G>A (n.136+3593G>A) c.*324G>A (n.*324G>A) c.528G>A (p.Thr176=) c.343+3593G>A (n.343+3593G>A) c.540G>A (p.Thr180=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.99132693G>C | CA466648140 | TGFBR1 | c.321G>C (p.Thr107=) c.333G>C (p.Thr111=) c.136+3593G>C (n.136+3593G>C) c.*324G>C (n.*324G>C) c.528G>C (p.Thr176=) c.343+3593G>C (n.343+3593G>C) c.540G>C (p.Thr180=) | |
| 9 | g.99132693G= | CA1867274753 | TGFBR1 | c.321G= (p.Thr107=) c.333G= (p.Thr111=) c.136+3593G= (n.136+3593G=) c.*324G= (n.*324G=) c.528G= (p.Thr176=) c.343+3593G= (n.343+3593G=) c.540G= (p.Thr180=) | |
| 9 | g.99132693G>T | CA466648141 | TGFBR1 | c.321G>T (p.Thr107=) c.333G>T (p.Thr111=) c.136+3593G>T (n.136+3593G>T) c.*324G>T (n.*324G>T) c.528G>T (p.Thr176=) c.343+3593G>T (n.343+3593G>T) c.540G>T (p.Thr180=) |