Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.99146496dup | CA2580616265 | TGFBR1 | c.935dup (p.Glu313Ter) c.947dup (p.Glu317Ter) c.*64dup (n.*64dup) c.704dup (p.Glu236Ter) c.*938dup (n.*938dup) c.1142dup (p.Glu382Ter) c.911dup (p.Glu305Ter) c.1143-1158dup (n.1143-1158dup) c.1154dup (p.Glu386Ter) | ClinVar |
9 | g.99146494C>A | CA466435246 | TGFBR1 | c.933C>A (p.Ala311=) c.945C>A (p.Ala315=) c.*62C>A (n.*62C>A) c.702C>A (p.Ala234=) c.*936C>A (n.*936C>A) c.1140C>A (p.Ala380=) c.909C>A (p.Ala303=) c.1143-1160C>A (n.1143-1160C>A) c.1152C>A (p.Ala384=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.99146494C= | CA1867263780 | TGFBR1 | c.933C= (p.Ala311=) c.945C= (p.Ala315=) c.*62C= (n.*62C=) c.702C= (p.Ala234=) c.*936C= (n.*936C=) c.1140C= (p.Ala380=) c.909C= (p.Ala303=) c.1143-1160C= (n.1143-1160C=) c.1152C= (p.Ala384=) | |
9 | g.99146494C>G | CA466435248 | TGFBR1 | c.933C>G (p.Ala311=) c.945C>G (p.Ala315=) c.*62C>G (n.*62C>G) c.702C>G (p.Ala234=) c.*936C>G (n.*936C>G) c.1140C>G (p.Ala380=) c.909C>G (p.Ala303=) c.1143-1160C>G (n.1143-1160C>G) c.1152C>G (p.Ala384=) | dbSNP |
9 | g.99146494C>T | CA466435247 | TGFBR1 | c.933C>T (p.Ala311=) c.945C>T (p.Ala315=) c.*62C>T (n.*62C>T) c.702C>T (p.Ala234=) c.*936C>T (n.*936C>T) c.1140C>T (p.Ala380=) c.909C>T (p.Ala303=) c.1143-1160C>T (n.1143-1160C>T) c.1152C>T (p.Ala384=) | ClinVar dbSNP gnomAD v4 |
9 | g.99146495C>A | CA374232620 | TGFBR1 | c.934C>A (p.Pro312Thr) c.946C>A (p.Pro316Thr) c.*63C>A (n.*63C>A) c.703C>A (p.Pro235Thr) c.*937C>A (n.*937C>A) c.1141C>A (p.Pro381Thr) c.910C>A (p.Pro304Thr) c.1143-1159C>A (n.1143-1159C>A) c.1153C>A (p.Pro385Thr) | |
9 | g.99146495C= | CA1867263786 | TGFBR1 | c.934C= (p.Pro312=) c.946C= (p.Pro316=) c.*63C= (n.*63C=) c.703C= (p.Pro235=) c.*937C= (n.*937C=) c.1141C= (p.Pro381=) c.910C= (p.Pro304=) c.1143-1159C= (n.1143-1159C=) c.1153C= (p.Pro385=) | |
9 | g.99146495C>G | CA374232631 | TGFBR1 | c.934C>G (p.Pro312Ala) c.946C>G (p.Pro316Ala) c.*63C>G (n.*63C>G) c.703C>G (p.Pro235Ala) c.*937C>G (n.*937C>G) c.1141C>G (p.Pro381Ala) c.910C>G (p.Pro304Ala) c.1143-1159C>G (n.1143-1159C>G) c.1153C>G (p.Pro385Ala) | |
9 | g.99146495C>T | CA044182 | TGFBR1 | c.934C>T (p.Pro312Ser) c.946C>T (p.Pro316Ser) c.*63C>T (n.*63C>T) c.703C>T (p.Pro235Ser) c.*937C>T (n.*937C>T) c.1141C>T (p.Pro381Ser) c.910C>T (p.Pro304Ser) c.1143-1159C>T (n.1143-1159C>T) c.1153C>T (p.Pro385Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99146496C>A | CA374232635 | TGFBR1 | c.935C>A (p.Pro312His) c.947C>A (p.Pro316His) c.*64C>A (n.*64C>A) c.704C>A (p.Pro235His) c.*938C>A (n.*938C>A) c.1142C>A (p.Pro381His) c.911C>A (p.Pro304His) c.1143-1158C>A (n.1143-1158C>A) c.1154C>A (p.Pro385His) | |
9 | g.99146496C>G | CA374232637 | TGFBR1 | c.935C>G (p.Pro312Arg) c.947C>G (p.Pro316Arg) c.*64C>G (n.*64C>G) c.704C>G (p.Pro235Arg) c.*938C>G (n.*938C>G) c.1142C>G (p.Pro381Arg) c.911C>G (p.Pro304Arg) c.1143-1158C>G (n.1143-1158C>G) c.1154C>G (p.Pro385Arg) | dbSNP |
9 | g.99146496C>T | CA374232640 | TGFBR1 | c.935C>T (p.Pro312Leu) c.947C>T (p.Pro316Leu) c.*64C>T (n.*64C>T) c.704C>T (p.Pro235Leu) c.*938C>T (n.*938C>T) c.1142C>T (p.Pro381Leu) c.911C>T (p.Pro304Leu) c.1143-1158C>T (n.1143-1158C>T) c.1154C>T (p.Pro385Leu) | dbSNP |
9 | g.99146497del | CA2690966509 | TGFBR1 | c.936del (p.Glu313LysfsTer7) c.948del (p.Glu317LysfsTer7) c.*65del (n.*65del) c.705del (p.Glu236LysfsTer7) c.*939del (n.*939del) c.1143del (p.Glu382LysfsTer7) c.912del (p.Glu305LysfsTer7) c.1143-1157del (n.1143-1157del) c.1155del (p.Glu386LysfsTer7) | gnomAD v4 |
9 | g.99146497T>A | CA466435250 | TGFBR1 | c.936T>A (p.Pro312=) c.948T>A (p.Pro316=) c.*65T>A (n.*65T>A) c.705T>A (p.Pro235=) c.*939T>A (n.*939T>A) c.1143T>A (p.Pro381=) c.912T>A (p.Pro304=) c.1143-1157T>A (n.1143-1157T>A) c.1155T>A (p.Pro385=) | |
9 | g.99146497T>C | CA466435251 | TGFBR1 | c.936T>C (p.Pro312=) c.948T>C (p.Pro316=) c.*65T>C (n.*65T>C) c.705T>C (p.Pro235=) c.*939T>C (n.*939T>C) c.1143T>C (p.Pro381=) c.912T>C (p.Pro304=) c.1143-1157T>C (n.1143-1157T>C) c.1155T>C (p.Pro385=) | ClinVar dbSNP gnomAD v4 |
9 | g.99146497T>G | CA466435252 | TGFBR1 | c.936T>G (p.Pro312=) c.948T>G (p.Pro316=) c.*65T>G (n.*65T>G) c.705T>G (p.Pro235=) c.*939T>G (n.*939T>G) c.1143T>G (p.Pro381=) c.912T>G (p.Pro304=) c.1143-1157T>G (n.1143-1157T>G) c.1155T>G (p.Pro385=) | |
9 | g.99146498G>A | CA320850 | TGFBR1 | c.937G>A (p.Glu313Lys) c.949G>A (p.Glu317Lys) c.*66G>A (n.*66G>A) c.706G>A (p.Glu236Lys) c.*940G>A (n.*940G>A) c.1144G>A (p.Glu382Lys) c.913G>A (p.Glu305Lys) c.1143-1156G>A (n.1143-1156G>A) c.1156G>A (p.Glu386Lys) | ClinVar dbSNP |
9 | g.99146498G>C | CA374232646 | TGFBR1 | c.937G>C (p.Glu313Gln) c.949G>C (p.Glu317Gln) c.*66G>C (n.*66G>C) c.706G>C (p.Glu236Gln) c.*940G>C (n.*940G>C) c.1144G>C (p.Glu382Gln) c.913G>C (p.Glu305Gln) c.1143-1156G>C (n.1143-1156G>C) c.1156G>C (p.Glu386Gln) | |
9 | g.99146498G= | CA1867263793 | TGFBR1 | c.937G= (p.Glu313=) c.949G= (p.Glu317=) c.*66G= (n.*66G=) c.706G= (p.Glu236=) c.*940G= (n.*940G=) c.1144G= (p.Glu382=) c.913G= (p.Glu305=) c.1143-1156G= (n.1143-1156G=) c.1156G= (p.Glu386=) | |
9 | g.99146498G>T | CA374232648 | TGFBR1 | c.937G>T (p.Glu313Ter) c.949G>T (p.Glu317Ter) c.*66G>T (n.*66G>T) c.706G>T (p.Glu236Ter) c.*940G>T (n.*940G>T) c.1144G>T (p.Glu382Ter) c.913G>T (p.Glu305Ter) c.1143-1156G>T (n.1143-1156G>T) c.1156G>T (p.Glu386Ter) | |
9 | g.99146499A>C | CA374232649 | TGFBR1 | c.938A>C (p.Glu313Ala) c.950A>C (p.Glu317Ala) c.*67A>C (n.*67A>C) c.707A>C (p.Glu236Ala) c.*941A>C (n.*941A>C) c.1145A>C (p.Glu382Ala) c.914A>C (p.Glu305Ala) c.1143-1155A>C (n.1143-1155A>C) c.1157A>C (p.Glu386Ala) | |
9 | g.99146499A>G | CA374232652 | TGFBR1 | c.938A>G (p.Glu313Gly) c.950A>G (p.Glu317Gly) c.*67A>G (n.*67A>G) c.707A>G (p.Glu236Gly) c.*941A>G (n.*941A>G) c.1145A>G (p.Glu382Gly) c.914A>G (p.Glu305Gly) c.1143-1155A>G (n.1143-1155A>G) c.1157A>G (p.Glu386Gly) | |
9 | g.99146499A>T | CA374232658 | TGFBR1 | c.938A>T (p.Glu313Val) c.950A>T (p.Glu317Val) c.*67A>T (n.*67A>T) c.707A>T (p.Glu236Val) c.*941A>T (n.*941A>T) c.1145A>T (p.Glu382Val) c.914A>T (p.Glu305Val) c.1143-1155A>T (n.1143-1155A>T) c.1157A>T (p.Glu386Val) | |
9 | g.99146500A>C | CA374232660 | TGFBR1 | c.939A>C (p.Glu313Asp) c.951A>C (p.Glu317Asp) c.*68A>C (n.*68A>C) c.708A>C (p.Glu236Asp) c.*942A>C (n.*942A>C) c.1146A>C (p.Glu382Asp) c.915A>C (p.Glu305Asp) c.1143-1154A>C (n.1143-1154A>C) c.1158A>C (p.Glu386Asp) | |
9 | g.99146500A>G | CA466435256 | TGFBR1 | c.939A>G (p.Glu313=) c.951A>G (p.Glu317=) c.*68A>G (n.*68A>G) c.708A>G (p.Glu236=) c.*942A>G (n.*942A>G) c.1146A>G (p.Glu382=) c.915A>G (p.Glu305=) c.1143-1154A>G (n.1143-1154A>G) c.1158A>G (p.Glu386=) | |
9 | g.99146500A>T | CA374232663 | TGFBR1 | c.939A>T (p.Glu313Asp) c.951A>T (p.Glu317Asp) c.*68A>T (n.*68A>T) c.708A>T (p.Glu236Asp) c.*942A>T (n.*942A>T) c.1146A>T (p.Glu382Asp) c.915A>T (p.Glu305Asp) c.1143-1154A>T (n.1143-1154A>T) c.1158A>T (p.Glu386Asp) | |
9 | g.99146501G>A | CA374232666 | TGFBR1 | c.940G>A (p.Val314Ile) c.952G>A (p.Val318Ile) c.*69G>A (n.*69G>A) c.709G>A (p.Val237Ile) c.*943G>A (n.*943G>A) c.1147G>A (p.Val383Ile) c.916G>A (p.Val306Ile) c.1143-1153G>A (n.1143-1153G>A) c.1159G>A (p.Val387Ile) | |
9 | g.99146501G>C | CA374232667 | TGFBR1 | c.940G>C (p.Val314Leu) c.952G>C (p.Val318Leu) c.*69G>C (n.*69G>C) c.709G>C (p.Val237Leu) c.*943G>C (n.*943G>C) c.1147G>C (p.Val383Leu) c.916G>C (p.Val306Leu) c.1143-1153G>C (n.1143-1153G>C) c.1159G>C (p.Val387Leu) | |
9 | g.99146501G>T | CA374232671 | TGFBR1 | c.940G>T (p.Val314Phe) c.952G>T (p.Val318Phe) c.*69G>T (n.*69G>T) c.709G>T (p.Val237Phe) c.*943G>T (n.*943G>T) c.1147G>T (p.Val383Phe) c.916G>T (p.Val306Phe) c.1143-1153G>T (n.1143-1153G>T) c.1159G>T (p.Val387Phe) | |
9 | g.99146502T>A | CA374232674 | TGFBR1 | c.941T>A (p.Val314Asp) c.953T>A (p.Val318Asp) c.*70T>A (n.*70T>A) c.710T>A (p.Val237Asp) c.*944T>A (n.*944T>A) c.1148T>A (p.Val383Asp) c.917T>A (p.Val306Asp) c.1143-1152T>A (n.1143-1152T>A) c.1160T>A (p.Val387Asp) | |
9 | g.99146502T>C | CA374232677 | TGFBR1 | c.941T>C (p.Val314Ala) c.953T>C (p.Val318Ala) c.*70T>C (n.*70T>C) c.710T>C (p.Val237Ala) c.*944T>C (n.*944T>C) c.1148T>C (p.Val383Ala) c.917T>C (p.Val306Ala) c.1143-1152T>C (n.1143-1152T>C) c.1160T>C (p.Val387Ala) | dbSNP gnomAD v4 |
9 | g.99146502T>G | CA374232681 | TGFBR1 | c.941T>G (p.Val314Gly) c.953T>G (p.Val318Gly) c.*70T>G (n.*70T>G) c.710T>G (p.Val237Gly) c.*944T>G (n.*944T>G) c.1148T>G (p.Val383Gly) c.917T>G (p.Val306Gly) c.1143-1152T>G (n.1143-1152T>G) c.1160T>G (p.Val387Gly) | |
9 | g.99146502T= | CA1867263797 | TGFBR1 | c.941T= (p.Val314=) c.953T= (p.Val318=) c.*70T= (n.*70T=) c.710T= (p.Val237=) c.*944T= (n.*944T=) c.1148T= (p.Val383=) c.917T= (p.Val306=) c.1143-1152T= (n.1143-1152T=) c.1160T= (p.Val387=) | |
9 | g.99146503T>A | CA466435261 | TGFBR1 | c.942T>A (p.Val314=) c.954T>A (p.Val318=) c.*71T>A (n.*71T>A) c.711T>A (p.Val237=) c.*945T>A (n.*945T>A) c.1149T>A (p.Val383=) c.918T>A (p.Val306=) c.1143-1151T>A (n.1143-1151T>A) c.1161T>A (p.Val387=) | |
9 | g.99146503T>C | CA466435259 | TGFBR1 | c.942T>C (p.Val314=) c.954T>C (p.Val318=) c.*71T>C (n.*71T>C) c.711T>C (p.Val237=) c.*945T>C (n.*945T>C) c.1149T>C (p.Val383=) c.918T>C (p.Val306=) c.1143-1151T>C (n.1143-1151T>C) c.1161T>C (p.Val387=) | |
9 | g.99146503T>G | CA466435260 | TGFBR1 | c.942T>G (p.Val314=) c.954T>G (p.Val318=) c.*71T>G (n.*71T>G) c.711T>G (p.Val237=) c.*945T>G (n.*945T>G) c.1149T>G (p.Val383=) c.918T>G (p.Val306=) c.1143-1151T>G (n.1143-1151T>G) c.1161T>G (p.Val387=) | |
9 | g.99146504C>A | CA374232685 | TGFBR1 | c.943C>A (p.Leu315Ile) c.955C>A (p.Leu319Ile) c.*72C>A (n.*72C>A) c.712C>A (p.Leu238Ile) c.*946C>A (n.*946C>A) c.1150C>A (p.Leu384Ile) c.919C>A (p.Leu307Ile) c.1143-1150C>A (n.1143-1150C>A) c.1162C>A (p.Leu388Ile) | |
9 | g.99146504C>G | CA374232687 | TGFBR1 | c.943C>G (p.Leu315Val) c.955C>G (p.Leu319Val) c.*72C>G (n.*72C>G) c.712C>G (p.Leu238Val) c.*946C>G (n.*946C>G) c.1150C>G (p.Leu384Val) c.919C>G (p.Leu307Val) c.1143-1150C>G (n.1143-1150C>G) c.1162C>G (p.Leu388Val) | |
9 | g.99146504C>T | CA374232690 | TGFBR1 | c.943C>T (p.Leu315Phe) c.955C>T (p.Leu319Phe) c.*72C>T (n.*72C>T) c.712C>T (p.Leu238Phe) c.*946C>T (n.*946C>T) c.1150C>T (p.Leu384Phe) c.919C>T (p.Leu307Phe) c.1143-1150C>T (n.1143-1150C>T) c.1162C>T (p.Leu388Phe) | |
9 | g.99146505T>A | CA374232693 | TGFBR1 | c.944T>A (p.Leu315His) c.956T>A (p.Leu319His) c.*73T>A (n.*73T>A) c.713T>A (p.Leu238His) c.*947T>A (n.*947T>A) c.1151T>A (p.Leu384His) c.920T>A (p.Leu307His) c.1143-1149T>A (n.1143-1149T>A) c.1163T>A (p.Leu388His) | |
9 | g.99146505T>C | CA374232696 | TGFBR1 | c.944T>C (p.Leu315Pro) c.956T>C (p.Leu319Pro) c.*73T>C (n.*73T>C) c.713T>C (p.Leu238Pro) c.*947T>C (n.*947T>C) c.1151T>C (p.Leu384Pro) c.920T>C (p.Leu307Pro) c.1143-1149T>C (n.1143-1149T>C) c.1163T>C (p.Leu388Pro) | |
9 | g.99146505T>G | CA374232700 | TGFBR1 | c.944T>G (p.Leu315Arg) c.956T>G (p.Leu319Arg) c.*73T>G (n.*73T>G) c.713T>G (p.Leu238Arg) c.*947T>G (n.*947T>G) c.1151T>G (p.Leu384Arg) c.920T>G (p.Leu307Arg) c.1143-1149T>G (n.1143-1149T>G) c.1163T>G (p.Leu388Arg) | |
9 | g.99146506C>A | CA466435266 | TGFBR1 | c.945C>A (p.Leu315=) c.957C>A (p.Leu319=) c.*74C>A (n.*74C>A) c.714C>A (p.Leu238=) c.*948C>A (n.*948C>A) c.1152C>A (p.Leu384=) c.921C>A (p.Leu307=) c.1143-1148C>A (n.1143-1148C>A) c.1164C>A (p.Leu388=) | |
9 | g.99146506C= | CA1867263803 | TGFBR1 | c.945C= (p.Leu315=) c.957C= (p.Leu319=) c.*74C= (n.*74C=) c.714C= (p.Leu238=) c.*948C= (n.*948C=) c.1152C= (p.Leu384=) c.921C= (p.Leu307=) c.1143-1148C= (n.1143-1148C=) c.1164C= (p.Leu388=) | |
9 | g.99146506C>G | CA466435267 | TGFBR1 | c.945C>G (p.Leu315=) c.957C>G (p.Leu319=) c.*74C>G (n.*74C>G) c.714C>G (p.Leu238=) c.*948C>G (n.*948C>G) c.1152C>G (p.Leu384=) c.921C>G (p.Leu307=) c.1143-1148C>G (n.1143-1148C>G) c.1164C>G (p.Leu388=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.99146506C>T | CA008710 | TGFBR1 | c.945C>T (p.Leu315=) c.957C>T (p.Leu319=) c.*74C>T (n.*74C>T) c.714C>T (p.Leu238=) c.*948C>T (n.*948C>T) c.1152C>T (p.Leu384=) c.921C>T (p.Leu307=) c.1143-1148C>T (n.1143-1148C>T) c.1164C>T (p.Leu388=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99146507G>A | CA374232705 | TGFBR1 | c.946G>A (p.Asp316Asn) c.958G>A (p.Asp320Asn) c.*75G>A (n.*75G>A) c.715G>A (p.Asp239Asn) c.*949G>A (n.*949G>A) c.1153G>A (p.Asp385Asn) c.922G>A (p.Asp308Asn) c.1143-1147G>A (n.1143-1147G>A) c.1165G>A (p.Asp389Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.99146507G>C | CA374232709 | TGFBR1 | c.946G>C (p.Asp316His) c.958G>C (p.Asp320His) c.*75G>C (n.*75G>C) c.715G>C (p.Asp239His) c.*949G>C (n.*949G>C) c.1153G>C (p.Asp385His) c.922G>C (p.Asp308His) c.1143-1147G>C (n.1143-1147G>C) c.1165G>C (p.Asp389His) | |
9 | g.99146507G= | CA1867263808 | TGFBR1 | c.946G= (p.Asp316=) c.958G= (p.Asp320=) c.*75G= (n.*75G=) c.715G= (p.Asp239=) c.*949G= (n.*949G=) c.1153G= (p.Asp385=) c.922G= (p.Asp308=) c.1143-1147G= (n.1143-1147G=) c.1165G= (p.Asp389=) | |
9 | g.99146507G>T | CA374232708 | TGFBR1 | c.946G>T (p.Asp316Tyr) c.958G>T (p.Asp320Tyr) c.*75G>T (n.*75G>T) c.715G>T (p.Asp239Tyr) c.*949G>T (n.*949G>T) c.1153G>T (p.Asp385Tyr) c.922G>T (p.Asp308Tyr) c.1143-1147G>T (n.1143-1147G>T) c.1165G>T (p.Asp389Tyr) | |
9 | g.99146508A>C | CA374232712 | TGFBR1 | c.947A>C (p.Asp316Ala) c.959A>C (p.Asp320Ala) c.*76A>C (n.*76A>C) c.716A>C (p.Asp239Ala) c.*950A>C (n.*950A>C) c.1154A>C (p.Asp385Ala) c.923A>C (p.Asp308Ala) c.1143-1146A>C (n.1143-1146A>C) c.1166A>C (p.Asp389Ala) | |
9 | g.99146508A>G | CA374232715 | TGFBR1 | c.947A>G (p.Asp316Gly) c.959A>G (p.Asp320Gly) c.*76A>G (n.*76A>G) c.716A>G (p.Asp239Gly) c.*950A>G (n.*950A>G) c.1154A>G (p.Asp385Gly) c.923A>G (p.Asp308Gly) c.1143-1146A>G (n.1143-1146A>G) c.1166A>G (p.Asp389Gly) | gnomAD v4 |
9 | g.99146508A>T | CA374232717 | TGFBR1 | c.947A>T (p.Asp316Val) c.959A>T (p.Asp320Val) c.*76A>T (n.*76A>T) c.716A>T (p.Asp239Val) c.*950A>T (n.*950A>T) c.1154A>T (p.Asp385Val) c.923A>T (p.Asp308Val) c.1143-1146A>T (n.1143-1146A>T) c.1166A>T (p.Asp389Val) | |
9 | g.99146509T>A | CA374232719 | TGFBR1 | c.948T>A (p.Asp316Glu) c.960T>A (p.Asp320Glu) c.*77T>A (n.*77T>A) c.717T>A (p.Asp239Glu) c.*951T>A (n.*951T>A) c.1155T>A (p.Asp385Glu) c.924T>A (p.Asp308Glu) c.1143-1145T>A (n.1143-1145T>A) c.1167T>A (p.Asp389Glu) | |
9 | g.99146509T>C | CA466435270 | TGFBR1 | c.948T>C (p.Asp316=) c.960T>C (p.Asp320=) c.*77T>C (n.*77T>C) c.717T>C (p.Asp239=) c.*951T>C (n.*951T>C) c.1155T>C (p.Asp385=) c.924T>C (p.Asp308=) c.1143-1145T>C (n.1143-1145T>C) c.1167T>C (p.Asp389=) | |
9 | g.99146509T>G | CA374232721 | TGFBR1 | c.948T>G (p.Asp316Glu) c.960T>G (p.Asp320Glu) c.*77T>G (n.*77T>G) c.717T>G (p.Asp239Glu) c.*951T>G (n.*951T>G) c.1155T>G (p.Asp385Glu) c.924T>G (p.Asp308Glu) c.1143-1145T>G (n.1143-1145T>G) c.1167T>G (p.Asp389Glu) | |
9 | g.99146510G>A | CA374232722 | TGFBR1 | c.949G>A (p.Asp317Asn) c.961G>A (p.Asp321Asn) c.*78G>A (n.*78G>A) c.718G>A (p.Asp240Asn) c.*952G>A (n.*952G>A) c.1156G>A (p.Asp386Asn) c.925G>A (p.Asp309Asn) c.1143-1144G>A (n.1143-1144G>A) c.1168G>A (p.Asp390Asn) | |
9 | g.99146510G>C | CA374232723 | TGFBR1 | c.949G>C (p.Asp317His) c.961G>C (p.Asp321His) c.*78G>C (n.*78G>C) c.718G>C (p.Asp240His) c.*952G>C (n.*952G>C) c.1156G>C (p.Asp386His) c.925G>C (p.Asp309His) c.1143-1144G>C (n.1143-1144G>C) c.1168G>C (p.Asp390His) | |
9 | g.99146510G>T | CA374232725 | TGFBR1 | c.949G>T (p.Asp317Tyr) c.961G>T (p.Asp321Tyr) c.*78G>T (n.*78G>T) c.718G>T (p.Asp240Tyr) c.*952G>T (n.*952G>T) c.1156G>T (p.Asp386Tyr) c.925G>T (p.Asp309Tyr) c.1143-1144G>T (n.1143-1144G>T) c.1168G>T (p.Asp390Tyr) | |
9 | g.99146511A= | CA1867263811 | TGFBR1 | c.950A= (p.Asp317=) c.962A= (p.Asp321=) c.*79A= (n.*79A=) c.719A= (p.Asp240=) c.*953A= (n.*953A=) c.1157A= (p.Asp386=) c.926A= (p.Asp309=) c.1143-1143A= (n.1143-1143A=) c.1169A= (p.Asp390=) | |
9 | g.99146511A>C | CA374232731 | TGFBR1 | c.950A>C (p.Asp317Ala) c.962A>C (p.Asp321Ala) c.*79A>C (n.*79A>C) c.719A>C (p.Asp240Ala) c.*953A>C (n.*953A>C) c.1157A>C (p.Asp386Ala) c.926A>C (p.Asp309Ala) c.1143-1143A>C (n.1143-1143A>C) c.1169A>C (p.Asp390Ala) | |
9 | g.99146511A>G | CA374232732 | TGFBR1 | c.950A>G (p.Asp317Gly) c.962A>G (p.Asp321Gly) c.*79A>G (n.*79A>G) c.719A>G (p.Asp240Gly) c.*953A>G (n.*953A>G) c.1157A>G (p.Asp386Gly) c.926A>G (p.Asp309Gly) c.1143-1143A>G (n.1143-1143A>G) c.1169A>G (p.Asp390Gly) | ClinVar dbSNP |
9 | g.99146511A>T | CA374232733 | TGFBR1 | c.950A>T (p.Asp317Val) c.962A>T (p.Asp321Val) c.*79A>T (n.*79A>T) c.719A>T (p.Asp240Val) c.*953A>T (n.*953A>T) c.1157A>T (p.Asp386Val) c.926A>T (p.Asp309Val) c.1143-1143A>T (n.1143-1143A>T) c.1169A>T (p.Asp390Val) | |
9 | g.99146512T>A | CA374232735 | TGFBR1 | c.951T>A (p.Asp317Glu) c.963T>A (p.Asp321Glu) c.*80T>A (n.*80T>A) c.720T>A (p.Asp240Glu) c.*954T>A (n.*954T>A) c.1158T>A (p.Asp386Glu) c.927T>A (p.Asp309Glu) c.1143-1142T>A (n.1143-1142T>A) c.1170T>A (p.Asp390Glu) | |
9 | g.99146512T>C | CA466435275 | TGFBR1 | c.951T>C (p.Asp317=) c.963T>C (p.Asp321=) c.*80T>C (n.*80T>C) c.720T>C (p.Asp240=) c.*954T>C (n.*954T>C) c.1158T>C (p.Asp386=) c.927T>C (p.Asp309=) c.1143-1142T>C (n.1143-1142T>C) c.1170T>C (p.Asp390=) | |
9 | g.99146512T>G | CA374232737 | TGFBR1 | c.951T>G (p.Asp317Glu) c.963T>G (p.Asp321Glu) c.*80T>G (n.*80T>G) c.720T>G (p.Asp240Glu) c.*954T>G (n.*954T>G) c.1158T>G (p.Asp386Glu) c.927T>G (p.Asp309Glu) c.1143-1142T>G (n.1143-1142T>G) c.1170T>G (p.Asp390Glu) | |
9 | g.99146513T>A | CA374232739 | TGFBR1 | c.952T>A (p.Ser318Thr) c.964T>A (p.Ser322Thr) c.*81T>A (n.*81T>A) c.721T>A (p.Ser241Thr) c.*955T>A (n.*955T>A) c.1159T>A (p.Ser387Thr) c.928T>A (p.Ser310Thr) c.1143-1141T>A (n.1143-1141T>A) c.1171T>A (p.Ser391Thr) | |
9 | g.99146513T>C | CA374232743 | TGFBR1 | c.952T>C (p.Ser318Pro) c.964T>C (p.Ser322Pro) c.*81T>C (n.*81T>C) c.721T>C (p.Ser241Pro) c.*955T>C (n.*955T>C) c.1159T>C (p.Ser387Pro) c.928T>C (p.Ser310Pro) c.1143-1141T>C (n.1143-1141T>C) c.1171T>C (p.Ser391Pro) | |
9 | g.99146513T>G | CA374232741 | TGFBR1 | c.952T>G (p.Ser318Ala) c.964T>G (p.Ser322Ala) c.*81T>G (n.*81T>G) c.721T>G (p.Ser241Ala) c.*955T>G (n.*955T>G) c.1159T>G (p.Ser387Ala) c.928T>G (p.Ser310Ala) c.1143-1141T>G (n.1143-1141T>G) c.1171T>G (p.Ser391Ala) | |
9 | g.99146514C>A | CA374232744 | TGFBR1 | c.953C>A (p.Ser318Tyr) c.965C>A (p.Ser322Tyr) c.*82C>A (n.*82C>A) c.722C>A (p.Ser241Tyr) c.*956C>A (n.*956C>A) c.1160C>A (p.Ser387Tyr) c.929C>A (p.Ser310Tyr) c.1143-1140C>A (n.1143-1140C>A) c.1172C>A (p.Ser391Tyr) | dbSNP |
9 | g.99146514C>G | CA374232746 | TGFBR1 | c.953C>G (p.Ser318Cys) c.965C>G (p.Ser322Cys) c.*82C>G (n.*82C>G) c.722C>G (p.Ser241Cys) c.*956C>G (n.*956C>G) c.1160C>G (p.Ser387Cys) c.929C>G (p.Ser310Cys) c.1143-1140C>G (n.1143-1140C>G) c.1172C>G (p.Ser391Cys) | dbSNP |
9 | g.99146514C>T | CA374232757 | TGFBR1 | c.953C>T (p.Ser318Phe) c.965C>T (p.Ser322Phe) c.*82C>T (n.*82C>T) c.722C>T (p.Ser241Phe) c.*956C>T (n.*956C>T) c.1160C>T (p.Ser387Phe) c.929C>T (p.Ser310Phe) c.1143-1140C>T (n.1143-1140C>T) c.1172C>T (p.Ser391Phe) | |
9 | g.99146515C>A | CA466435280 | TGFBR1 | c.954C>A (p.Ser318=) c.966C>A (p.Ser322=) c.*83C>A (n.*83C>A) c.723C>A (p.Ser241=) c.*957C>A (n.*957C>A) c.1161C>A (p.Ser387=) c.930C>A (p.Ser310=) c.1143-1139C>A (n.1143-1139C>A) c.1173C>A (p.Ser391=) | |
9 | g.99146515C= | CA1867263816 | TGFBR1 | c.954C= (p.Ser318=) c.966C= (p.Ser322=) c.*83C= (n.*83C=) c.723C= (p.Ser241=) c.*957C= (n.*957C=) c.1161C= (p.Ser387=) c.930C= (p.Ser310=) c.1143-1139C= (n.1143-1139C=) c.1173C= (p.Ser391=) | |
9 | g.99146515C>G | CA466435281 | TGFBR1 | c.954C>G (p.Ser318=) c.966C>G (p.Ser322=) c.*83C>G (n.*83C>G) c.723C>G (p.Ser241=) c.*957C>G (n.*957C>G) c.1161C>G (p.Ser387=) c.930C>G (p.Ser310=) c.1143-1139C>G (n.1143-1139C>G) c.1173C>G (p.Ser391=) | |
9 | g.99146515C>T | CA044208 | TGFBR1 | c.954C>T (p.Ser318=) c.966C>T (p.Ser322=) c.*83C>T (n.*83C>T) c.723C>T (p.Ser241=) c.*957C>T (n.*957C>T) c.1161C>T (p.Ser387=) c.930C>T (p.Ser310=) c.1143-1139C>T (n.1143-1139C>T) c.1173C>T (p.Ser391=) | dbSNP ExAC gnomAD v4 |
9 | g.99146516A>C | CA374232758 | TGFBR1 | c.955A>C (p.Ile319Leu) c.967A>C (p.Ile323Leu) c.*84A>C (n.*84A>C) c.724A>C (p.Ile242Leu) c.*958A>C (n.*958A>C) c.1162A>C (p.Ile388Leu) c.931A>C (p.Ile311Leu) c.1143-1138A>C (n.1143-1138A>C) c.1174A>C (p.Ile392Leu) | |
9 | g.99146516A>G | CA374232759 | TGFBR1 | c.955A>G (p.Ile319Val) c.967A>G (p.Ile323Val) c.*84A>G (n.*84A>G) c.724A>G (p.Ile242Val) c.*958A>G (n.*958A>G) c.1162A>G (p.Ile388Val) c.931A>G (p.Ile311Val) c.1143-1138A>G (n.1143-1138A>G) c.1174A>G (p.Ile392Val) | |
9 | g.99146516A>T | CA374232760 | TGFBR1 | c.955A>T (p.Ile319Leu) c.967A>T (p.Ile323Leu) c.*84A>T (n.*84A>T) c.724A>T (p.Ile242Leu) c.*958A>T (n.*958A>T) c.1162A>T (p.Ile388Leu) c.931A>T (p.Ile311Leu) c.1143-1138A>T (n.1143-1138A>T) c.1174A>T (p.Ile392Leu) | |
9 | g.99146517T>A | CA374232761 | TGFBR1 | c.956T>A (p.Ile319Lys) c.968T>A (p.Ile323Lys) c.*85T>A (n.*85T>A) c.725T>A (p.Ile242Lys) c.*959T>A (n.*959T>A) c.1163T>A (p.Ile388Lys) c.932T>A (p.Ile311Lys) c.1143-1137T>A (n.1143-1137T>A) c.1175T>A (p.Ile392Lys) | |
9 | g.99146517T>C | CA374232762 | TGFBR1 | c.956T>C (p.Ile319Thr) c.968T>C (p.Ile323Thr) c.*85T>C (n.*85T>C) c.725T>C (p.Ile242Thr) c.*959T>C (n.*959T>C) c.1163T>C (p.Ile388Thr) c.932T>C (p.Ile311Thr) c.1143-1137T>C (n.1143-1137T>C) c.1175T>C (p.Ile392Thr) | gnomAD v4 |
9 | g.99146517T>G | CA374232763 | TGFBR1 | c.956T>G (p.Ile319Arg) c.968T>G (p.Ile323Arg) c.*85T>G (n.*85T>G) c.725T>G (p.Ile242Arg) c.*959T>G (n.*959T>G) c.1163T>G (p.Ile388Arg) c.932T>G (p.Ile311Arg) c.1143-1137T>G (n.1143-1137T>G) c.1175T>G (p.Ile392Arg) | |
9 | g.99146518A>C | CA466435283 | TGFBR1 | c.957A>C (p.Ile319=) c.969A>C (p.Ile323=) c.*86A>C (n.*86A>C) c.726A>C (p.Ile242=) c.*960A>C (n.*960A>C) c.1164A>C (p.Ile388=) c.933A>C (p.Ile311=) c.1143-1136A>C (n.1143-1136A>C) c.1176A>C (p.Ile392=) | |
9 | g.99146518A>G | CA374232765 | TGFBR1 | c.957A>G (p.Ile319Met) c.969A>G (p.Ile323Met) c.*86A>G (n.*86A>G) c.726A>G (p.Ile242Met) c.*960A>G (n.*960A>G) c.1164A>G (p.Ile388Met) c.933A>G (p.Ile311Met) c.1143-1136A>G (n.1143-1136A>G) c.1176A>G (p.Ile392Met) | |
9 | g.99146518A>T | CA466435287 | TGFBR1 | c.957A>T (p.Ile319=) c.969A>T (p.Ile323=) c.*86A>T (n.*86A>T) c.726A>T (p.Ile242=) c.*960A>T (n.*960A>T) c.1164A>T (p.Ile388=) c.933A>T (p.Ile311=) c.1143-1136A>T (n.1143-1136A>T) c.1176A>T (p.Ile392=) | |
9 | g.99146519A>C | CA374232769 | TGFBR1 | c.958A>C (p.Asn320His) c.970A>C (p.Asn324His) c.*87A>C (n.*87A>C) c.727A>C (p.Asn243His) c.*961A>C (n.*961A>C) c.1165A>C (p.Asn389His) c.934A>C (p.Asn312His) c.1143-1135A>C (n.1143-1135A>C) c.1177A>C (p.Asn393His) | |
9 | g.99146519A>G | CA374232771 | TGFBR1 | c.958A>G (p.Asn320Asp) c.970A>G (p.Asn324Asp) c.*87A>G (n.*87A>G) c.727A>G (p.Asn243Asp) c.*961A>G (n.*961A>G) c.1165A>G (p.Asn389Asp) c.934A>G (p.Asn312Asp) c.1143-1135A>G (n.1143-1135A>G) c.1177A>G (p.Asn393Asp) | ClinVar |
9 | g.99146519A>T | CA374232767 | TGFBR1 | c.958A>T (p.Asn320Tyr) c.970A>T (p.Asn324Tyr) c.*87A>T (n.*87A>T) c.727A>T (p.Asn243Tyr) c.*961A>T (n.*961A>T) c.1165A>T (p.Asn389Tyr) c.934A>T (p.Asn312Tyr) c.1143-1135A>T (n.1143-1135A>T) c.1177A>T (p.Asn393Tyr) | |
9 | g.99146520A= | CA1867263820 | TGFBR1 | c.959A= (p.Asn320=) c.971A= (p.Asn324=) c.*88A= (n.*88A=) c.728A= (p.Asn243=) c.*962A= (n.*962A=) c.1166A= (p.Asn389=) c.935A= (p.Asn312=) c.1143-1134A= (n.1143-1134A=) c.1178A= (p.Asn393=) | |
9 | g.99146520A>C | CA374232775 | TGFBR1 | c.959A>C (p.Asn320Thr) c.971A>C (p.Asn324Thr) c.*88A>C (n.*88A>C) c.728A>C (p.Asn243Thr) c.*962A>C (n.*962A>C) c.1166A>C (p.Asn389Thr) c.935A>C (p.Asn312Thr) c.1143-1134A>C (n.1143-1134A>C) c.1178A>C (p.Asn393Thr) | |
9 | g.99146520A>G | CA323179 | TGFBR1 | c.959A>G (p.Asn320Ser) c.971A>G (p.Asn324Ser) c.*88A>G (n.*88A>G) c.728A>G (p.Asn243Ser) c.*962A>G (n.*962A>G) c.1166A>G (p.Asn389Ser) c.935A>G (p.Asn312Ser) c.1143-1134A>G (n.1143-1134A>G) c.1178A>G (p.Asn393Ser) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.99146520A>T | CA374232777 | TGFBR1 | c.959A>T (p.Asn320Ile) c.971A>T (p.Asn324Ile) c.*88A>T (n.*88A>T) c.728A>T (p.Asn243Ile) c.*962A>T (n.*962A>T) c.1166A>T (p.Asn389Ile) c.935A>T (p.Asn312Ile) c.1143-1134A>T (n.1143-1134A>T) c.1178A>T (p.Asn393Ile) | |
9 | g.99146521T>A | CA374232779 | TGFBR1 | c.960T>A (p.Asn320Lys) c.972T>A (p.Asn324Lys) c.*89T>A (n.*89T>A) c.729T>A (p.Asn243Lys) c.*963T>A (n.*963T>A) c.1167T>A (p.Asn389Lys) c.936T>A (p.Asn312Lys) c.1143-1133T>A (n.1143-1133T>A) c.1179T>A (p.Asn393Lys) | |
9 | g.99146521T>C | CA044223 | TGFBR1 | c.960T>C (p.Asn320=) c.972T>C (p.Asn324=) c.*89T>C (n.*89T>C) c.729T>C (p.Asn243=) c.*963T>C (n.*963T>C) c.1167T>C (p.Asn389=) c.936T>C (p.Asn312=) c.1143-1133T>C (n.1143-1133T>C) c.1179T>C (p.Asn393=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.99146521T>G | CA374232783 | TGFBR1 | c.960T>G (p.Asn320Lys) c.972T>G (p.Asn324Lys) c.*89T>G (n.*89T>G) c.729T>G (p.Asn243Lys) c.*963T>G (n.*963T>G) c.1167T>G (p.Asn389Lys) c.936T>G (p.Asn312Lys) c.1143-1133T>G (n.1143-1133T>G) c.1179T>G (p.Asn393Lys) | |
9 | g.99146521T= | CA1867263823 | TGFBR1 | c.960T= (p.Asn320=) c.972T= (p.Asn324=) c.*89T= (n.*89T=) c.729T= (p.Asn243=) c.*963T= (n.*963T=) c.1167T= (p.Asn389=) c.936T= (p.Asn312=) c.1143-1133T= (n.1143-1133T=) c.1179T= (p.Asn393=) | |
9 | g.99146522A>C | CA374232785 | TGFBR1 | c.961A>C (p.Met321Leu) c.973A>C (p.Met325Leu) c.*90A>C (n.*90A>C) c.730A>C (p.Met244Leu) c.*964A>C (n.*964A>C) c.1168A>C (p.Met390Leu) c.937A>C (p.Met313Leu) c.1143-1132A>C (n.1143-1132A>C) c.1180A>C (p.Met394Leu) | |
9 | g.99146522A>G | CA374232787 | TGFBR1 | c.961A>G (p.Met321Val) c.973A>G (p.Met325Val) c.*90A>G (n.*90A>G) c.730A>G (p.Met244Val) c.*964A>G (n.*964A>G) c.1168A>G (p.Met390Val) c.937A>G (p.Met313Val) c.1143-1132A>G (n.1143-1132A>G) c.1180A>G (p.Met394Val) | |
9 | g.99146522A>T | CA374232790 | TGFBR1 | c.961A>T (p.Met321Leu) c.973A>T (p.Met325Leu) c.*90A>T (n.*90A>T) c.730A>T (p.Met244Leu) c.*964A>T (n.*964A>T) c.1168A>T (p.Met390Leu) c.937A>T (p.Met313Leu) c.1143-1132A>T (n.1143-1132A>T) c.1180A>T (p.Met394Leu) | |
9 | g.99146523T>A | CA374232791 | TGFBR1 | c.962T>A (p.Met321Lys) c.974T>A (p.Met325Lys) c.*91T>A (n.*91T>A) c.731T>A (p.Met244Lys) c.*965T>A (n.*965T>A) c.1169T>A (p.Met390Lys) c.938T>A (p.Met313Lys) c.1143-1131T>A (n.1143-1131T>A) c.1181T>A (p.Met394Lys) | |
9 | g.99146523T>C | CA044231 | TGFBR1 | c.962T>C (p.Met321Thr) c.974T>C (p.Met325Thr) c.*91T>C (n.*91T>C) c.731T>C (p.Met244Thr) c.*965T>C (n.*965T>C) c.1169T>C (p.Met390Thr) c.938T>C (p.Met313Thr) c.1143-1131T>C (n.1143-1131T>C) c.1181T>C (p.Met394Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.99146523T>G | CA374232796 | TGFBR1 | c.962T>G (p.Met321Arg) c.974T>G (p.Met325Arg) c.*91T>G (n.*91T>G) c.731T>G (p.Met244Arg) c.*965T>G (n.*965T>G) c.1169T>G (p.Met390Arg) c.938T>G (p.Met313Arg) c.1143-1131T>G (n.1143-1131T>G) c.1181T>G (p.Met394Arg) | |
9 | g.99146523T= | CA1867263825 | TGFBR1 | c.962T= (p.Met321=) c.974T= (p.Met325=) c.*91T= (n.*91T=) c.731T= (p.Met244=) c.*965T= (n.*965T=) c.1169T= (p.Met390=) c.938T= (p.Met313=) c.1143-1131T= (n.1143-1131T=) c.1181T= (p.Met394=) | |
9 | g.99146524G>A | CA374232797 | TGFBR1 | c.963G>A (p.Met321Ile) c.975G>A (p.Met325Ile) c.*92G>A (n.*92G>A) c.732G>A (p.Met244Ile) c.*966G>A (n.*966G>A) c.1170G>A (p.Met390Ile) c.939G>A (p.Met313Ile) c.1143-1130G>A (n.1143-1130G>A) c.1182G>A (p.Met394Ile) | |
9 | g.99146524G>C | CA374232799 | TGFBR1 | c.963G>C (p.Met321Ile) c.975G>C (p.Met325Ile) c.*92G>C (n.*92G>C) c.732G>C (p.Met244Ile) c.*966G>C (n.*966G>C) c.1170G>C (p.Met390Ile) c.939G>C (p.Met313Ile) c.1143-1130G>C (n.1143-1130G>C) c.1182G>C (p.Met394Ile) | |
9 | g.99146524G>T | CA374232801 | TGFBR1 | c.963G>T (p.Met321Ile) c.975G>T (p.Met325Ile) c.*92G>T (n.*92G>T) c.732G>T (p.Met244Ile) c.*966G>T (n.*966G>T) c.1170G>T (p.Met390Ile) c.939G>T (p.Met313Ile) c.1143-1130G>T (n.1143-1130G>T) c.1182G>T (p.Met394Ile) | |
9 | g.99146525A>C | CA374232807 | TGFBR1 | c.964A>C (p.Lys322Gln) c.976A>C (p.Lys326Gln) c.*93A>C (n.*93A>C) c.733A>C (p.Lys245Gln) c.*967A>C (n.*967A>C) c.1171A>C (p.Lys391Gln) c.940A>C (p.Lys314Gln) c.1143-1129A>C (n.1143-1129A>C) c.1183A>C (p.Lys395Gln) | |
9 | g.99146525A>G | CA374232804 | TGFBR1 | c.964A>G (p.Lys322Glu) c.976A>G (p.Lys326Glu) c.*93A>G (n.*93A>G) c.733A>G (p.Lys245Glu) c.*967A>G (n.*967A>G) c.1171A>G (p.Lys391Glu) c.940A>G (p.Lys314Glu) c.1143-1129A>G (n.1143-1129A>G) c.1183A>G (p.Lys395Glu) | |
9 | g.99146525A>T | CA374232803 | TGFBR1 | c.964A>T (p.Lys322Ter) c.976A>T (p.Lys326Ter) c.*93A>T (n.*93A>T) c.733A>T (p.Lys245Ter) c.*967A>T (n.*967A>T) c.1171A>T (p.Lys391Ter) c.940A>T (p.Lys314Ter) c.1143-1129A>T (n.1143-1129A>T) c.1183A>T (p.Lys395Ter) | |
9 | g.99146526A= | CA1867263827 | TGFBR1 | c.965A= (p.Lys322=) c.977A= (p.Lys326=) c.*94A= (n.*94A=) c.734A= (p.Lys245=) c.*968A= (n.*968A=) c.1172A= (p.Lys391=) c.941A= (p.Lys314=) c.1143-1128A= (n.1143-1128A=) c.1184A= (p.Lys395=) | |
9 | g.99146526A>C | CA374232810 | TGFBR1 | c.965A>C (p.Lys322Thr) c.977A>C (p.Lys326Thr) c.*94A>C (n.*94A>C) c.734A>C (p.Lys245Thr) c.*968A>C (n.*968A>C) c.1172A>C (p.Lys391Thr) c.941A>C (p.Lys314Thr) c.1143-1128A>C (n.1143-1128A>C) c.1184A>C (p.Lys395Thr) | |
9 | g.99146526A>G | CA374232812 | TGFBR1 | c.965A>G (p.Lys322Arg) c.977A>G (p.Lys326Arg) c.*94A>G (n.*94A>G) c.734A>G (p.Lys245Arg) c.*968A>G (n.*968A>G) c.1172A>G (p.Lys391Arg) c.941A>G (p.Lys314Arg) c.1143-1128A>G (n.1143-1128A>G) c.1184A>G (p.Lys395Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99146526A>T | CA374232813 | TGFBR1 | c.965A>T (p.Lys322Ile) c.977A>T (p.Lys326Ile) c.*94A>T (n.*94A>T) c.734A>T (p.Lys245Ile) c.*968A>T (n.*968A>T) c.1172A>T (p.Lys391Ile) c.941A>T (p.Lys314Ile) c.1143-1128A>T (n.1143-1128A>T) c.1184A>T (p.Lys395Ile) | |
9 | g.99146527A>C | CA374232816 | TGFBR1 | c.966A>C (p.Lys322Asn) c.978A>C (p.Lys326Asn) c.*95A>C (n.*95A>C) c.735A>C (p.Lys245Asn) c.*969A>C (n.*969A>C) c.1173A>C (p.Lys391Asn) c.942A>C (p.Lys314Asn) c.1143-1127A>C (n.1143-1127A>C) c.1185A>C (p.Lys395Asn) | |
9 | g.99146527A>G | CA466435296 | TGFBR1 | c.966A>G (p.Lys322=) c.978A>G (p.Lys326=) c.*95A>G (n.*95A>G) c.735A>G (p.Lys245=) c.*969A>G (n.*969A>G) c.1173A>G (p.Lys391=) c.942A>G (p.Lys314=) c.1143-1127A>G (n.1143-1127A>G) c.1185A>G (p.Lys395=) | ClinVar |
9 | g.99146527A>T | CA374232817 | TGFBR1 | c.966A>T (p.Lys322Asn) c.978A>T (p.Lys326Asn) c.*95A>T (n.*95A>T) c.735A>T (p.Lys245Asn) c.*969A>T (n.*969A>T) c.1173A>T (p.Lys391Asn) c.942A>T (p.Lys314Asn) c.1143-1127A>T (n.1143-1127A>T) c.1185A>T (p.Lys395Asn) | gnomAD v4 |
9 | g.99146528C>A | CA374232819 | TGFBR1 | c.967C>A (p.His323Asn) c.979C>A (p.His327Asn) c.*96C>A (n.*96C>A) c.736C>A (p.His246Asn) c.*970C>A (n.*970C>A) c.1174C>A (p.His392Asn) c.943C>A (p.His315Asn) c.1143-1126C>A (n.1143-1126C>A) c.1186C>A (p.His396Asn) | gnomAD v4 |
9 | g.99146528C>G | CA374232821 | TGFBR1 | c.967C>G (p.His323Asp) c.979C>G (p.His327Asp) c.*96C>G (n.*96C>G) c.736C>G (p.His246Asp) c.*970C>G (n.*970C>G) c.1174C>G (p.His392Asp) c.943C>G (p.His315Asp) c.1143-1126C>G (n.1143-1126C>G) c.1186C>G (p.His396Asp) | |
9 | g.99146528C>T | CA374232824 | TGFBR1 | c.967C>T (p.His323Tyr) c.979C>T (p.His327Tyr) c.*96C>T (n.*96C>T) c.736C>T (p.His246Tyr) c.*970C>T (n.*970C>T) c.1174C>T (p.His392Tyr) c.943C>T (p.His315Tyr) c.1143-1126C>T (n.1143-1126C>T) c.1186C>T (p.His396Tyr) | |
9 | g.99146529A>C | CA374232829 | TGFBR1 | c.968A>C (p.His323Pro) c.980A>C (p.His327Pro) c.*97A>C (n.*97A>C) c.737A>C (p.His246Pro) c.*971A>C (n.*971A>C) c.1175A>C (p.His392Pro) c.944A>C (p.His315Pro) c.1143-1125A>C (n.1143-1125A>C) c.1187A>C (p.His396Pro) | |
9 | g.99146529A>G | CA374232830 | TGFBR1 | c.968A>G (p.His323Arg) c.980A>G (p.His327Arg) c.*97A>G (n.*97A>G) c.737A>G (p.His246Arg) c.*971A>G (n.*971A>G) c.1175A>G (p.His392Arg) c.944A>G (p.His315Arg) c.1143-1125A>G (n.1143-1125A>G) c.1187A>G (p.His396Arg) | |
9 | g.99146529A>T | CA374232832 | TGFBR1 | c.968A>T (p.His323Leu) c.980A>T (p.His327Leu) c.*97A>T (n.*97A>T) c.737A>T (p.His246Leu) c.*971A>T (n.*971A>T) c.1175A>T (p.His392Leu) c.944A>T (p.His315Leu) c.1143-1125A>T (n.1143-1125A>T) c.1187A>T (p.His396Leu) | |
9 | g.99146530T>A | CA374232835 | TGFBR1 | c.969T>A (p.His323Gln) c.981T>A (p.His327Gln) c.*98T>A (n.*98T>A) c.738T>A (p.His246Gln) c.*972T>A (n.*972T>A) c.1176T>A (p.His392Gln) c.945T>A (p.His315Gln) c.1143-1124T>A (n.1143-1124T>A) c.1188T>A (p.His396Gln) | |
9 | g.99146530T>C | CA466435305 | TGFBR1 | c.969T>C (p.His323=) c.981T>C (p.His327=) c.*98T>C (n.*98T>C) c.738T>C (p.His246=) c.*972T>C (n.*972T>C) c.1176T>C (p.His392=) c.945T>C (p.His315=) c.1143-1124T>C (n.1143-1124T>C) c.1188T>C (p.His396=) | |
9 | g.99146530T>G | CA374232837 | TGFBR1 | c.969T>G (p.His323Gln) c.981T>G (p.His327Gln) c.*98T>G (n.*98T>G) c.738T>G (p.His246Gln) c.*972T>G (n.*972T>G) c.1176T>G (p.His392Gln) c.945T>G (p.His315Gln) c.1143-1124T>G (n.1143-1124T>G) c.1188T>G (p.His396Gln) | |
9 | g.99146531T>A | CA374232841 | TGFBR1 | c.970T>A (p.Phe324Ile) c.982T>A (p.Phe328Ile) c.*99T>A (n.*99T>A) c.739T>A (p.Phe247Ile) c.*973T>A (n.*973T>A) c.1177T>A (p.Phe393Ile) c.946T>A (p.Phe316Ile) c.1143-1123T>A (n.1143-1123T>A) c.1189T>A (p.Phe397Ile) | |
9 | g.99146531T>C | CA374232839 | TGFBR1 | c.970T>C (p.Phe324Leu) c.982T>C (p.Phe328Leu) c.*99T>C (n.*99T>C) c.739T>C (p.Phe247Leu) c.*973T>C (n.*973T>C) c.1177T>C (p.Phe393Leu) c.946T>C (p.Phe316Leu) c.1143-1123T>C (n.1143-1123T>C) c.1189T>C (p.Phe397Leu) | |
9 | g.99146531T>G | CA374232838 | TGFBR1 | c.970T>G (p.Phe324Val) c.982T>G (p.Phe328Val) c.*99T>G (n.*99T>G) c.739T>G (p.Phe247Val) c.*973T>G (n.*973T>G) c.1177T>G (p.Phe393Val) c.946T>G (p.Phe316Val) c.1143-1123T>G (n.1143-1123T>G) c.1189T>G (p.Phe397Val) | |
9 | g.99146532T>A | CA374232850 | TGFBR1 | c.971T>A (p.Phe324Tyr) c.983T>A (p.Phe328Tyr) c.*100T>A (n.*100T>A) c.740T>A (p.Phe247Tyr) c.*974T>A (n.*974T>A) c.1178T>A (p.Phe393Tyr) c.947T>A (p.Phe316Tyr) c.1143-1122T>A (n.1143-1122T>A) c.1190T>A (p.Phe397Tyr) | |
9 | g.99146532T>C | CA374232844 | TGFBR1 | c.971T>C (p.Phe324Ser) c.983T>C (p.Phe328Ser) c.*100T>C (n.*100T>C) c.740T>C (p.Phe247Ser) c.*974T>C (n.*974T>C) c.1178T>C (p.Phe393Ser) c.947T>C (p.Phe316Ser) c.1143-1122T>C (n.1143-1122T>C) c.1190T>C (p.Phe397Ser) | |
9 | g.99146532T>G | CA374232846 | TGFBR1 | c.971T>G (p.Phe324Cys) c.983T>G (p.Phe328Cys) c.*100T>G (n.*100T>G) c.740T>G (p.Phe247Cys) c.*974T>G (n.*974T>G) c.1178T>G (p.Phe393Cys) c.947T>G (p.Phe316Cys) c.1143-1122T>G (n.1143-1122T>G) c.1190T>G (p.Phe397Cys) | |
9 | g.99146533T>A | CA374232854 | TGFBR1 | c.972T>A (p.Phe324Leu) c.984T>A (p.Phe328Leu) c.*101T>A (n.*101T>A) c.741T>A (p.Phe247Leu) c.*975T>A (n.*975T>A) c.1179T>A (p.Phe393Leu) c.948T>A (p.Phe316Leu) c.1143-1121T>A (n.1143-1121T>A) c.1191T>A (p.Phe397Leu) | |
9 | g.99146533T>C | CA466435309 | TGFBR1 | c.972T>C (p.Phe324=) c.984T>C (p.Phe328=) c.*101T>C (n.*101T>C) c.741T>C (p.Phe247=) c.*975T>C (n.*975T>C) c.1179T>C (p.Phe393=) c.948T>C (p.Phe316=) c.1143-1121T>C (n.1143-1121T>C) c.1191T>C (p.Phe397=) | |
9 | g.99146533T>G | CA374232857 | TGFBR1 | c.972T>G (p.Phe324Leu) c.984T>G (p.Phe328Leu) c.*101T>G (n.*101T>G) c.741T>G (p.Phe247Leu) c.*975T>G (n.*975T>G) c.1179T>G (p.Phe393Leu) c.948T>G (p.Phe316Leu) c.1143-1121T>G (n.1143-1121T>G) c.1191T>G (p.Phe397Leu) | COSMIC |
9 | g.99146534G>A | CA374232859 | TGFBR1 | c.973G>A (p.Glu325Lys) c.985G>A (p.Glu329Lys) c.*102G>A (n.*102G>A) c.742G>A (p.Glu248Lys) c.*976G>A (n.*976G>A) c.1180G>A (p.Glu394Lys) c.949G>A (p.Glu317Lys) c.1143-1120G>A (n.1143-1120G>A) c.1192G>A (p.Glu398Lys) | ClinVar dbSNP |
9 | g.99146534G>C | CA374232861 | TGFBR1 | c.973G>C (p.Glu325Gln) c.985G>C (p.Glu329Gln) c.*102G>C (n.*102G>C) c.742G>C (p.Glu248Gln) c.*976G>C (n.*976G>C) c.1180G>C (p.Glu394Gln) c.949G>C (p.Glu317Gln) c.1143-1120G>C (n.1143-1120G>C) c.1192G>C (p.Glu398Gln) | |
9 | g.99146534G= | CA1867263833 | TGFBR1 | c.973G= (p.Glu325=) c.985G= (p.Glu329=) c.*102G= (n.*102G=) c.742G= (p.Glu248=) c.*976G= (n.*976G=) c.1180G= (p.Glu394=) c.949G= (p.Glu317=) c.1143-1120G= (n.1143-1120G=) c.1192G= (p.Glu398=) | |
9 | g.99146534G>T | CA374232863 | TGFBR1 | c.973G>T (p.Glu325Ter) c.985G>T (p.Glu329Ter) c.*102G>T (n.*102G>T) c.742G>T (p.Glu248Ter) c.*976G>T (n.*976G>T) c.1180G>T (p.Glu394Ter) c.949G>T (p.Glu317Ter) c.1143-1120G>T (n.1143-1120G>T) c.1192G>T (p.Glu398Ter) | |
9 | g.99146535A>C | CA374232865 | TGFBR1 | c.974A>C (p.Glu325Ala) c.986A>C (p.Glu329Ala) c.*103A>C (n.*103A>C) c.743A>C (p.Glu248Ala) c.*977A>C (n.*977A>C) c.1181A>C (p.Glu394Ala) c.950A>C (p.Glu317Ala) c.1143-1119A>C (n.1143-1119A>C) c.1193A>C (p.Glu398Ala) | |
9 | g.99146535A>G | CA374232867 | TGFBR1 | c.974A>G (p.Glu325Gly) c.986A>G (p.Glu329Gly) c.*103A>G (n.*103A>G) c.743A>G (p.Glu248Gly) c.*977A>G (n.*977A>G) c.1181A>G (p.Glu394Gly) c.950A>G (p.Glu317Gly) c.1143-1119A>G (n.1143-1119A>G) c.1193A>G (p.Glu398Gly) | |
9 | g.99146535A>T | CA374232870 | TGFBR1 | c.974A>T (p.Glu325Val) c.986A>T (p.Glu329Val) c.*103A>T (n.*103A>T) c.743A>T (p.Glu248Val) c.*977A>T (n.*977A>T) c.1181A>T (p.Glu394Val) c.950A>T (p.Glu317Val) c.1143-1119A>T (n.1143-1119A>T) c.1193A>T (p.Glu398Val) | |
9 | g.99146536A= | CA1867263839 | TGFBR1 | c.975A= (p.Glu325=) c.987A= (p.Glu329=) c.*104A= (n.*104A=) c.744A= (p.Glu248=) c.*978A= (n.*978A=) c.1182A= (p.Glu394=) c.951A= (p.Glu317=) c.1143-1118A= (n.1143-1118A=) c.1194A= (p.Glu398=) | |
9 | g.99146536A>C | CA374232874 | TGFBR1 | c.975A>C (p.Glu325Asp) c.987A>C (p.Glu329Asp) c.*104A>C (n.*104A>C) c.744A>C (p.Glu248Asp) c.*978A>C (n.*978A>C) c.1182A>C (p.Glu394Asp) c.951A>C (p.Glu317Asp) c.1143-1118A>C (n.1143-1118A>C) c.1194A>C (p.Glu398Asp) | |
9 | g.99146536A>G | CA466435316 | TGFBR1 | c.975A>G (p.Glu325=) c.987A>G (p.Glu329=) c.*104A>G (n.*104A>G) c.744A>G (p.Glu248=) c.*978A>G (n.*978A>G) c.1182A>G (p.Glu394=) c.951A>G (p.Glu317=) c.1143-1118A>G (n.1143-1118A>G) c.1194A>G (p.Glu398=) | dbSNP gnomAD v4 |
9 | g.99146536A>T | CA374232875 | TGFBR1 | c.975A>T (p.Glu325Asp) c.987A>T (p.Glu329Asp) c.*104A>T (n.*104A>T) c.744A>T (p.Glu248Asp) c.*978A>T (n.*978A>T) c.1182A>T (p.Glu394Asp) c.951A>T (p.Glu317Asp) c.1143-1118A>T (n.1143-1118A>T) c.1194A>T (p.Glu398Asp) | |
9 | g.99146537T>A | CA374232884 | TGFBR1 | c.976T>A (p.Ser326Thr) c.988T>A (p.Ser330Thr) c.*105T>A (n.*105T>A) c.745T>A (p.Ser249Thr) c.*979T>A (n.*979T>A) c.1183T>A (p.Ser395Thr) c.952T>A (p.Ser318Thr) c.1143-1117T>A (n.1143-1117T>A) c.1195T>A (p.Ser399Thr) | dbSNP |
9 | g.99146537T>C | CA374232886 | TGFBR1 | c.976T>C (p.Ser326Pro) c.988T>C (p.Ser330Pro) c.*105T>C (n.*105T>C) c.745T>C (p.Ser249Pro) c.*979T>C (n.*979T>C) c.1183T>C (p.Ser395Pro) c.952T>C (p.Ser318Pro) c.1143-1117T>C (n.1143-1117T>C) c.1195T>C (p.Ser399Pro) | ClinVar |
9 | g.99146537T>G | CA374232881 | TGFBR1 | c.976T>G (p.Ser326Ala) c.988T>G (p.Ser330Ala) c.*105T>G (n.*105T>G) c.745T>G (p.Ser249Ala) c.*979T>G (n.*979T>G) c.1183T>G (p.Ser395Ala) c.952T>G (p.Ser318Ala) c.1143-1117T>G (n.1143-1117T>G) c.1195T>G (p.Ser399Ala) | |
9 | g.99146537T= | CA1867263844 | TGFBR1 | c.976T= (p.Ser326=) c.988T= (p.Ser330=) c.*105T= (n.*105T=) c.745T= (p.Ser249=) c.*979T= (n.*979T=) c.1183T= (p.Ser395=) c.952T= (p.Ser318=) c.1143-1117T= (n.1143-1117T=) c.1195T= (p.Ser399=) | |
9 | g.99146538C>A | CA374232890 | TGFBR1 | c.977C>A (p.Ser326Tyr) c.989C>A (p.Ser330Tyr) c.*106C>A (n.*106C>A) c.746C>A (p.Ser249Tyr) c.*980C>A (n.*980C>A) c.1184C>A (p.Ser395Tyr) c.953C>A (p.Ser318Tyr) c.1143-1116C>A (n.1143-1116C>A) c.1196C>A (p.Ser399Tyr) | |
9 | g.99146538C>G | CA374232893 | TGFBR1 | c.977C>G (p.Ser326Cys) c.989C>G (p.Ser330Cys) c.*106C>G (n.*106C>G) c.746C>G (p.Ser249Cys) c.*980C>G (n.*980C>G) c.1184C>G (p.Ser395Cys) c.953C>G (p.Ser318Cys) c.1143-1116C>G (n.1143-1116C>G) c.1196C>G (p.Ser399Cys) | |
9 | g.99146538C>T | CA374232897 | TGFBR1 | c.977C>T (p.Ser326Phe) c.989C>T (p.Ser330Phe) c.*106C>T (n.*106C>T) c.746C>T (p.Ser249Phe) c.*980C>T (n.*980C>T) c.1184C>T (p.Ser395Phe) c.953C>T (p.Ser318Phe) c.1143-1116C>T (n.1143-1116C>T) c.1196C>T (p.Ser399Phe) | |
9 | g.99146539C>A | CA466435324 | TGFBR1 | c.978C>A (p.Ser326=) c.990C>A (p.Ser330=) c.*107C>A (n.*107C>A) c.747C>A (p.Ser249=) c.*981C>A (n.*981C>A) c.1185C>A (p.Ser395=) c.954C>A (p.Ser318=) c.1143-1115C>A (n.1143-1115C>A) c.1197C>A (p.Ser399=) | dbSNP |
9 | g.99146539C>G | CA466435327 | TGFBR1 | c.978C>G (p.Ser326=) c.990C>G (p.Ser330=) c.*107C>G (n.*107C>G) c.747C>G (p.Ser249=) c.*981C>G (n.*981C>G) c.1185C>G (p.Ser395=) c.954C>G (p.Ser318=) c.1143-1115C>G (n.1143-1115C>G) c.1197C>G (p.Ser399=) | |
9 | g.99146539C>T | CA466435328 | TGFBR1 | c.978C>T (p.Ser326=) c.990C>T (p.Ser330=) c.*107C>T (n.*107C>T) c.747C>T (p.Ser249=) c.*981C>T (n.*981C>T) c.1185C>T (p.Ser395=) c.954C>T (p.Ser318=) c.1143-1115C>T (n.1143-1115C>T) c.1197C>T (p.Ser399=) | |
9 | g.99146540T>A | CA374232902 | TGFBR1 | c.979T>A (p.Phe327Ile) c.991T>A (p.Phe331Ile) c.*108T>A (n.*108T>A) c.748T>A (p.Phe250Ile) c.*982T>A (n.*982T>A) c.1186T>A (p.Phe396Ile) c.955T>A (p.Phe319Ile) c.1143-1114T>A (n.1143-1114T>A) c.1198T>A (p.Phe400Ile) | |
9 | g.99146540T>C | CA374232903 | TGFBR1 | c.979T>C (p.Phe327Leu) c.991T>C (p.Phe331Leu) c.*108T>C (n.*108T>C) c.748T>C (p.Phe250Leu) c.*982T>C (n.*982T>C) c.1186T>C (p.Phe396Leu) c.955T>C (p.Phe319Leu) c.1143-1114T>C (n.1143-1114T>C) c.1198T>C (p.Phe400Leu) | |
9 | g.99146540T>G | CA044241 | TGFBR1 | c.979T>G (p.Phe327Val) c.991T>G (p.Phe331Val) c.*108T>G (n.*108T>G) c.748T>G (p.Phe250Val) c.*982T>G (n.*982T>G) c.1186T>G (p.Phe396Val) c.955T>G (p.Phe319Val) c.1143-1114T>G (n.1143-1114T>G) c.1198T>G (p.Phe400Val) | dbSNP ExAC gnomAD v2 |
9 | g.99146540T= | CA1867263846 | TGFBR1 | c.979T= (p.Phe327=) c.991T= (p.Phe331=) c.*108T= (n.*108T=) c.748T= (p.Phe250=) c.*982T= (n.*982T=) c.1186T= (p.Phe396=) c.955T= (p.Phe319=) c.1143-1114T= (n.1143-1114T=) c.1198T= (p.Phe400=) | |
9 | g.99146541T>A | CA374232907 | TGFBR1 | c.980T>A (p.Phe327Tyr) c.992T>A (p.Phe331Tyr) c.*109T>A (n.*109T>A) c.749T>A (p.Phe250Tyr) c.*983T>A (n.*983T>A) c.1187T>A (p.Phe396Tyr) c.956T>A (p.Phe319Tyr) c.1143-1113T>A (n.1143-1113T>A) c.1199T>A (p.Phe400Tyr) | |
9 | g.99146541T>C | CA374232911 | TGFBR1 | c.980T>C (p.Phe327Ser) c.992T>C (p.Phe331Ser) c.*109T>C (n.*109T>C) c.749T>C (p.Phe250Ser) c.*983T>C (n.*983T>C) c.1187T>C (p.Phe396Ser) c.956T>C (p.Phe319Ser) c.1143-1113T>C (n.1143-1113T>C) c.1199T>C (p.Phe400Ser) | |
9 | g.99146541T>G | CA374232909 | TGFBR1 | c.980T>G (p.Phe327Cys) c.992T>G (p.Phe331Cys) c.*109T>G (n.*109T>G) c.749T>G (p.Phe250Cys) c.*983T>G (n.*983T>G) c.1187T>G (p.Phe396Cys) c.956T>G (p.Phe319Cys) c.1143-1113T>G (n.1143-1113T>G) c.1199T>G (p.Phe400Cys) | |
9 | g.99146542C>A | CA374232914 | TGFBR1 | c.981C>A (p.Phe327Leu) c.993C>A (p.Phe331Leu) c.*110C>A (n.*110C>A) c.750C>A (p.Phe250Leu) c.*984C>A (n.*984C>A) c.1188C>A (p.Phe396Leu) c.957C>A (p.Phe319Leu) c.1143-1112C>A (n.1143-1112C>A) c.1200C>A (p.Phe400Leu) | gnomAD v4 |
9 | g.99146542C>G | CA374232917 | TGFBR1 | c.981C>G (p.Phe327Leu) c.993C>G (p.Phe331Leu) c.*110C>G (n.*110C>G) c.750C>G (p.Phe250Leu) c.*984C>G (n.*984C>G) c.1188C>G (p.Phe396Leu) c.957C>G (p.Phe319Leu) c.1143-1112C>G (n.1143-1112C>G) c.1200C>G (p.Phe400Leu) | COSMIC |
9 | g.99146542C>T | CA466435332 | TGFBR1 | c.981C>T (p.Phe327=) c.993C>T (p.Phe331=) c.*110C>T (n.*110C>T) c.750C>T (p.Phe250=) c.*984C>T (n.*984C>T) c.1188C>T (p.Phe396=) c.957C>T (p.Phe319=) c.1143-1112C>T (n.1143-1112C>T) c.1200C>T (p.Phe400=) | |
9 | g.99146543A>C | CA374232920 | TGFBR1 | c.982A>C (p.Lys328Gln) c.994A>C (p.Lys332Gln) c.*111A>C (n.*111A>C) c.751A>C (p.Lys251Gln) c.*985A>C (n.*985A>C) c.1189A>C (p.Lys397Gln) c.958A>C (p.Lys320Gln) c.1143-1111A>C (n.1143-1111A>C) c.1201A>C (p.Lys401Gln) | |
9 | g.99146543A>G | CA374232921 | TGFBR1 | c.982A>G (p.Lys328Glu) c.994A>G (p.Lys332Glu) c.*111A>G (n.*111A>G) c.751A>G (p.Lys251Glu) c.*985A>G (n.*985A>G) c.1189A>G (p.Lys397Glu) c.958A>G (p.Lys320Glu) c.1143-1111A>G (n.1143-1111A>G) c.1201A>G (p.Lys401Glu) | |
9 | g.99146543A>T | CA374232922 | TGFBR1 | c.982A>T (p.Lys328Ter) c.994A>T (p.Lys332Ter) c.*111A>T (n.*111A>T) c.751A>T (p.Lys251Ter) c.*985A>T (n.*985A>T) c.1189A>T (p.Lys397Ter) c.958A>T (p.Lys320Ter) c.1143-1111A>T (n.1143-1111A>T) c.1201A>T (p.Lys401Ter) | ClinVar |
9 | g.99146544A= | CA1867263853 | TGFBR1 | c.983A= (p.Lys328=) c.995A= (p.Lys332=) c.*112A= (n.*112A=) c.752A= (p.Lys251=) c.*986A= (n.*986A=) c.1190A= (p.Lys397=) c.959A= (p.Lys320=) c.1143-1110A= (n.1143-1110A=) c.1202A= (p.Lys401=) | |
9 | g.99146544A>C | CA374232924 | TGFBR1 | c.983A>C (p.Lys328Thr) c.995A>C (p.Lys332Thr) c.*112A>C (n.*112A>C) c.752A>C (p.Lys251Thr) c.*986A>C (n.*986A>C) c.1190A>C (p.Lys397Thr) c.959A>C (p.Lys320Thr) c.1143-1110A>C (n.1143-1110A>C) c.1202A>C (p.Lys401Thr) | |
9 | g.99146544A>G | CA196894159 | TGFBR1 | c.983A>G (p.Lys328Arg) c.995A>G (p.Lys332Arg) c.*112A>G (n.*112A>G) c.752A>G (p.Lys251Arg) c.*986A>G (n.*986A>G) c.1190A>G (p.Lys397Arg) c.959A>G (p.Lys320Arg) c.1143-1110A>G (n.1143-1110A>G) c.1202A>G (p.Lys401Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.99146544A>T | CA374232923 | TGFBR1 | c.983A>T (p.Lys328Ile) c.995A>T (p.Lys332Ile) c.*112A>T (n.*112A>T) c.752A>T (p.Lys251Ile) c.*986A>T (n.*986A>T) c.1190A>T (p.Lys397Ile) c.959A>T (p.Lys320Ile) c.1143-1110A>T (n.1143-1110A>T) c.1202A>T (p.Lys401Ile) | |
9 | g.99146545A>C | CA374232925 | TGFBR1 | c.984A>C (p.Lys328Asn) c.996A>C (p.Lys332Asn) c.*113A>C (n.*113A>C) c.753A>C (p.Lys251Asn) c.*987A>C (n.*987A>C) c.1191A>C (p.Lys397Asn) c.960A>C (p.Lys320Asn) c.1143-1109A>C (n.1143-1109A>C) c.1203A>C (p.Lys401Asn) | |
9 | g.99146545A>G | CA466435338 | TGFBR1 | c.984A>G (p.Lys328=) c.996A>G (p.Lys332=) c.*113A>G (n.*113A>G) c.753A>G (p.Lys251=) c.*987A>G (n.*987A>G) c.1191A>G (p.Lys397=) c.960A>G (p.Lys320=) c.1143-1109A>G (n.1143-1109A>G) c.1203A>G (p.Lys401=) | |
9 | g.99146545A>T | CA374232926 | TGFBR1 | c.984A>T (p.Lys328Asn) c.996A>T (p.Lys332Asn) c.*113A>T (n.*113A>T) c.753A>T (p.Lys251Asn) c.*987A>T (n.*987A>T) c.1191A>T (p.Lys397Asn) c.960A>T (p.Lys320Asn) c.1143-1109A>T (n.1143-1109A>T) c.1203A>T (p.Lys401Asn) | |
9 | g.99146546C>A | CA374232928 | TGFBR1 | c.985C>A (p.Arg329Ser) c.997C>A (p.Arg333Ser) c.*114C>A (n.*114C>A) c.754C>A (p.Arg252Ser) c.*988C>A (n.*988C>A) c.1192C>A (p.Arg398Ser) c.961C>A (p.Arg321Ser) c.1143-1108C>A (n.1143-1108C>A) c.1204C>A (p.Arg402Ser) | |
9 | g.99146546C= | CA1867263854 | TGFBR1 | c.985C= (p.Arg329=) c.997C= (p.Arg333=) c.*114C= (n.*114C=) c.754C= (p.Arg252=) c.*988C= (n.*988C=) c.1192C= (p.Arg398=) c.961C= (p.Arg321=) c.1143-1108C= (n.1143-1108C=) c.1204C= (p.Arg402=) | |
9 | g.99146546C>G | CA374232931 | TGFBR1 | c.985C>G (p.Arg329Gly) c.997C>G (p.Arg333Gly) c.*114C>G (n.*114C>G) c.754C>G (p.Arg252Gly) c.*988C>G (n.*988C>G) c.1192C>G (p.Arg398Gly) c.961C>G (p.Arg321Gly) c.1143-1108C>G (n.1143-1108C>G) c.1204C>G (p.Arg402Gly) | |
9 | g.99146546C>T | CA374232932 | TGFBR1 | c.985C>T (p.Arg329Cys) c.997C>T (p.Arg333Cys) c.*114C>T (n.*114C>T) c.754C>T (p.Arg252Cys) c.*988C>T (n.*988C>T) c.1192C>T (p.Arg398Cys) c.961C>T (p.Arg321Cys) c.1143-1108C>T (n.1143-1108C>T) c.1204C>T (p.Arg402Cys) | dbSNP gnomAD v4 |
9 | g.99146547G>A | CA044253 | TGFBR1 | c.986G>A (p.Arg329His) c.998G>A (p.Arg333His) c.*115G>A (n.*115G>A) c.755G>A (p.Arg252His) c.*989G>A (n.*989G>A) c.1193G>A (p.Arg398His) c.962G>A (p.Arg321His) c.1143-1107G>A (n.1143-1107G>A) c.1205G>A (p.Arg402His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99146547G>C | CA374232935 | TGFBR1 | c.986G>C (p.Arg329Pro) c.998G>C (p.Arg333Pro) c.*115G>C (n.*115G>C) c.755G>C (p.Arg252Pro) c.*989G>C (n.*989G>C) c.1193G>C (p.Arg398Pro) c.962G>C (p.Arg321Pro) c.1143-1107G>C (n.1143-1107G>C) c.1205G>C (p.Arg402Pro) | |
9 | g.99146547G= | CA1867263857 | TGFBR1 | c.986G= (p.Arg329=) c.998G= (p.Arg333=) c.*115G= (n.*115G=) c.755G= (p.Arg252=) c.*989G= (n.*989G=) c.1193G= (p.Arg398=) c.962G= (p.Arg321=) c.1143-1107G= (n.1143-1107G=) c.1205G= (p.Arg402=) | |
9 | g.99146547G>T | CA374232933 | TGFBR1 | c.986G>T (p.Arg329Leu) c.998G>T (p.Arg333Leu) c.*115G>T (n.*115G>T) c.755G>T (p.Arg252Leu) c.*989G>T (n.*989G>T) c.1193G>T (p.Arg398Leu) c.962G>T (p.Arg321Leu) c.1143-1107G>T (n.1143-1107G>T) c.1205G>T (p.Arg402Leu) | gnomAD v4 |
9 | g.99146548T>A | CA466435342 | TGFBR1 | c.987T>A (p.Arg329=) c.999T>A (p.Arg333=) c.*116T>A (n.*116T>A) c.756T>A (p.Arg252=) c.*990T>A (n.*990T>A) c.1194T>A (p.Arg398=) c.963T>A (p.Arg321=) c.1143-1106T>A (n.1143-1106T>A) c.1206T>A (p.Arg402=) | |
9 | g.99146548T>C | CA466435343 | TGFBR1 | c.987T>C (p.Arg329=) c.999T>C (p.Arg333=) c.*116T>C (n.*116T>C) c.756T>C (p.Arg252=) c.*990T>C (n.*990T>C) c.1194T>C (p.Arg398=) c.963T>C (p.Arg321=) c.1143-1106T>C (n.1143-1106T>C) c.1206T>C (p.Arg402=) | ClinVar |
9 | g.99146548T>G | CA466435344 | TGFBR1 | c.987T>G (p.Arg329=) c.999T>G (p.Arg333=) c.*116T>G (n.*116T>G) c.756T>G (p.Arg252=) c.*990T>G (n.*990T>G) c.1194T>G (p.Arg398=) c.963T>G (p.Arg321=) c.1143-1106T>G (n.1143-1106T>G) c.1206T>G (p.Arg402=) | |
9 | g.99146549G>A | CA374232937 | TGFBR1 | c.988G>A (p.Ala330Thr) c.1000G>A (p.Ala334Thr) c.*117G>A (n.*117G>A) c.757G>A (p.Ala253Thr) c.*991G>A (n.*991G>A) c.1195G>A (p.Ala399Thr) c.964G>A (p.Ala322Thr) c.1143-1105G>A (n.1143-1105G>A) c.1207G>A (p.Ala403Thr) | dbSNP |
9 | g.99146549G>C | CA374232939 | TGFBR1 | c.988G>C (p.Ala330Pro) c.1000G>C (p.Ala334Pro) c.*117G>C (n.*117G>C) c.757G>C (p.Ala253Pro) c.*991G>C (n.*991G>C) c.1195G>C (p.Ala399Pro) c.964G>C (p.Ala322Pro) c.1143-1105G>C (n.1143-1105G>C) c.1207G>C (p.Ala403Pro) | |
9 | g.99146549G= | CA1867263859 | TGFBR1 | c.988G= (p.Ala330=) c.1000G= (p.Ala334=) c.*117G= (n.*117G=) c.757G= (p.Ala253=) c.*991G= (n.*991G=) c.1195G= (p.Ala399=) c.964G= (p.Ala322=) c.1143-1105G= (n.1143-1105G=) c.1207G= (p.Ala403=) | |
9 | g.99146549G>T | CA374232942 | TGFBR1 | c.988G>T (p.Ala330Ser) c.1000G>T (p.Ala334Ser) c.*117G>T (n.*117G>T) c.757G>T (p.Ala253Ser) c.*991G>T (n.*991G>T) c.1195G>T (p.Ala399Ser) c.964G>T (p.Ala322Ser) c.1143-1105G>T (n.1143-1105G>T) c.1207G>T (p.Ala403Ser) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.99146550C>A | CA374232945 | TGFBR1 | c.989C>A (p.Ala330Asp) c.1001C>A (p.Ala334Asp) c.*118C>A (n.*118C>A) c.758C>A (p.Ala253Asp) c.*992C>A (n.*992C>A) c.1196C>A (p.Ala399Asp) c.965C>A (p.Ala322Asp) c.1143-1104C>A (n.1143-1104C>A) c.1208C>A (p.Ala403Asp) | |
9 | g.99146550C= | CA1867263863 | TGFBR1 | c.989C= (p.Ala330=) c.1001C= (p.Ala334=) c.*118C= (n.*118C=) c.758C= (p.Ala253=) c.*992C= (n.*992C=) c.1196C= (p.Ala399=) c.965C= (p.Ala322=) c.1143-1104C= (n.1143-1104C=) c.1208C= (p.Ala403=) | |
9 | g.99146550C>G | CA374232946 | TGFBR1 | c.989C>G (p.Ala330Gly) c.1001C>G (p.Ala334Gly) c.*118C>G (n.*118C>G) c.758C>G (p.Ala253Gly) c.*992C>G (n.*992C>G) c.1196C>G (p.Ala399Gly) c.965C>G (p.Ala322Gly) c.1143-1104C>G (n.1143-1104C>G) c.1208C>G (p.Ala403Gly) | ClinVar dbSNP gnomAD v4 |
9 | g.99146550C>T | CA374232947 | TGFBR1 | c.989C>T (p.Ala330Val) c.1001C>T (p.Ala334Val) c.*118C>T (n.*118C>T) c.758C>T (p.Ala253Val) c.*992C>T (n.*992C>T) c.1196C>T (p.Ala399Val) c.965C>T (p.Ala322Val) c.1143-1104C>T (n.1143-1104C>T) c.1208C>T (p.Ala403Val) | |
9 | g.99146551T>A | CA466435347 | TGFBR1 | c.990T>A (p.Ala330=) c.1002T>A (p.Ala334=) c.*119T>A (n.*119T>A) c.759T>A (p.Ala253=) c.*993T>A (n.*993T>A) c.1197T>A (p.Ala399=) c.966T>A (p.Ala322=) c.1143-1103T>A (n.1143-1103T>A) c.1209T>A (p.Ala403=) | |
9 | g.99146551T>C | CA466435350 | TGFBR1 | c.990T>C (p.Ala330=) c.1002T>C (p.Ala334=) c.*119T>C (n.*119T>C) c.759T>C (p.Ala253=) c.*993T>C (n.*993T>C) c.1197T>C (p.Ala399=) c.966T>C (p.Ala322=) c.1143-1103T>C (n.1143-1103T>C) c.1209T>C (p.Ala403=) | gnomAD v4 |
9 | g.99146551T>G | CA466435345 | TGFBR1 | c.990T>G (p.Ala330=) c.1002T>G (p.Ala334=) c.*119T>G (n.*119T>G) c.759T>G (p.Ala253=) c.*993T>G (n.*993T>G) c.1197T>G (p.Ala399=) c.966T>G (p.Ala322=) c.1143-1103T>G (n.1143-1103T>G) c.1209T>G (p.Ala403=) | gnomAD v4 |
9 | g.99146552G>A | CA374232951 | TGFBR1 | c.991G>A (p.Asp331Asn) c.1003G>A (p.Asp335Asn) c.*120G>A (n.*120G>A) c.760G>A (p.Asp254Asn) c.*994G>A (n.*994G>A) c.1198G>A (p.Asp400Asn) c.967G>A (p.Asp323Asn) c.1143-1102G>A (n.1143-1102G>A) c.1210G>A (p.Asp404Asn) | ClinVar dbSNP |
9 | g.99146552G>C | CA374232948 | TGFBR1 | c.991G>C (p.Asp331His) c.1003G>C (p.Asp335His) c.*120G>C (n.*120G>C) c.760G>C (p.Asp254His) c.*994G>C (n.*994G>C) c.1198G>C (p.Asp400His) c.967G>C (p.Asp323His) c.1143-1102G>C (n.1143-1102G>C) c.1210G>C (p.Asp404His) | COSMIC |
9 | g.99146552G>T | CA374232950 | TGFBR1 | c.991G>T (p.Asp331Tyr) c.1003G>T (p.Asp335Tyr) c.*120G>T (n.*120G>T) c.760G>T (p.Asp254Tyr) c.*994G>T (n.*994G>T) c.1198G>T (p.Asp400Tyr) c.967G>T (p.Asp323Tyr) c.1143-1102G>T (n.1143-1102G>T) c.1210G>T (p.Asp404Tyr) | dbSNP COSMIC |
9 | g.99146553A= | CA1867263867 | TGFBR1 | c.992A= (p.Asp331=) c.1004A= (p.Asp335=) c.*121A= (n.*121A=) c.761A= (p.Asp254=) c.*995A= (n.*995A=) c.1199A= (p.Asp400=) c.968A= (p.Asp323=) c.1143-1101A= (n.1143-1101A=) c.1211A= (p.Asp404=) | |
9 | g.99146553A>C | CA374232953 | TGFBR1 | c.992A>C (p.Asp331Ala) c.1004A>C (p.Asp335Ala) c.*121A>C (n.*121A>C) c.761A>C (p.Asp254Ala) c.*995A>C (n.*995A>C) c.1199A>C (p.Asp400Ala) c.968A>C (p.Asp323Ala) c.1143-1101A>C (n.1143-1101A>C) c.1211A>C (p.Asp404Ala) | |
9 | g.99146553A>G | CA008717 | TGFBR1 | c.992A>G (p.Asp331Gly) c.1004A>G (p.Asp335Gly) c.*121A>G (n.*121A>G) c.761A>G (p.Asp254Gly) c.*995A>G (n.*995A>G) c.1199A>G (p.Asp400Gly) c.968A>G (p.Asp323Gly) c.1143-1101A>G (n.1143-1101A>G) c.1211A>G (p.Asp404Gly) | ClinVar dbSNP |
9 | g.99146553A>T | CA374232956 | TGFBR1 | c.992A>T (p.Asp331Val) c.1004A>T (p.Asp335Val) c.*121A>T (n.*121A>T) c.761A>T (p.Asp254Val) c.*995A>T (n.*995A>T) c.1199A>T (p.Asp400Val) c.968A>T (p.Asp323Val) c.1143-1101A>T (n.1143-1101A>T) c.1211A>T (p.Asp404Val) | |
9 | g.99146554C>A | CA374232957 | TGFBR1 | c.993C>A (p.Asp331Glu) c.1005C>A (p.Asp335Glu) c.*122C>A (n.*122C>A) c.762C>A (p.Asp254Glu) c.*996C>A (n.*996C>A) c.1200C>A (p.Asp400Glu) c.969C>A (p.Asp323Glu) c.1143-1100C>A (n.1143-1100C>A) c.1212C>A (p.Asp404Glu) | |
9 | g.99146554C= | CA1867263871 | TGFBR1 | c.993C= (p.Asp331=) c.1005C= (p.Asp335=) c.*122C= (n.*122C=) c.762C= (p.Asp254=) c.*996C= (n.*996C=) c.1200C= (p.Asp400=) c.969C= (p.Asp323=) c.1143-1100C= (n.1143-1100C=) c.1212C= (p.Asp404=) | |
9 | g.99146554C>G | CA374232958 | TGFBR1 | c.993C>G (p.Asp331Glu) c.1005C>G (p.Asp335Glu) c.*122C>G (n.*122C>G) c.762C>G (p.Asp254Glu) c.*996C>G (n.*996C>G) c.1200C>G (p.Asp400Glu) c.969C>G (p.Asp323Glu) c.1143-1100C>G (n.1143-1100C>G) c.1212C>G (p.Asp404Glu) | |
9 | g.99146554C>T | CA466435356 | TGFBR1 | c.993C>T (p.Asp331=) c.1005C>T (p.Asp335=) c.*122C>T (n.*122C>T) c.762C>T (p.Asp254=) c.*996C>T (n.*996C>T) c.1200C>T (p.Asp400=) c.969C>T (p.Asp323=) c.1143-1100C>T (n.1143-1100C>T) c.1212C>T (p.Asp404=) | dbSNP gnomAD v4 |
9 | g.99146555A>C | CA374232959 | TGFBR1 | c.994A>C (p.Ile332Leu) c.1006A>C (p.Ile336Leu) c.*123A>C (n.*123A>C) c.763A>C (p.Ile255Leu) c.*997A>C (n.*997A>C) c.1201A>C (p.Ile401Leu) c.970A>C (p.Ile324Leu) c.1143-1099A>C (n.1143-1099A>C) c.1213A>C (p.Ile405Leu) | |
9 | g.99146555A>G | CA374232961 | TGFBR1 | c.994A>G (p.Ile332Val) c.1006A>G (p.Ile336Val) c.*123A>G (n.*123A>G) c.763A>G (p.Ile255Val) c.*997A>G (n.*997A>G) c.1201A>G (p.Ile401Val) c.970A>G (p.Ile324Val) c.1143-1099A>G (n.1143-1099A>G) c.1213A>G (p.Ile405Val) | ClinVar |
9 | g.99146555A>T | CA374232963 | TGFBR1 | c.994A>T (p.Ile332Phe) c.1006A>T (p.Ile336Phe) c.*123A>T (n.*123A>T) c.763A>T (p.Ile255Phe) c.*997A>T (n.*997A>T) c.1201A>T (p.Ile401Phe) c.970A>T (p.Ile324Phe) c.1143-1099A>T (n.1143-1099A>T) c.1213A>T (p.Ile405Phe) | |
9 | g.99146556T>A | CA374232966 | TGFBR1 | c.995T>A (p.Ile332Asn) c.1007T>A (p.Ile336Asn) c.*124T>A (n.*124T>A) c.764T>A (p.Ile255Asn) c.*998T>A (n.*998T>A) c.1202T>A (p.Ile401Asn) c.971T>A (p.Ile324Asn) c.1143-1098T>A (n.1143-1098T>A) c.1214T>A (p.Ile405Asn) | dbSNP gnomAD v2 |
9 | g.99146556T>C | CA374232967 | TGFBR1 | c.995T>C (p.Ile332Thr) c.1007T>C (p.Ile336Thr) c.*124T>C (n.*124T>C) c.764T>C (p.Ile255Thr) c.*998T>C (n.*998T>C) c.1202T>C (p.Ile401Thr) c.971T>C (p.Ile324Thr) c.1143-1098T>C (n.1143-1098T>C) c.1214T>C (p.Ile405Thr) | |
9 | g.99146556T>G | CA374232969 | TGFBR1 | c.995T>G (p.Ile332Ser) c.1007T>G (p.Ile336Ser) c.*124T>G (n.*124T>G) c.764T>G (p.Ile255Ser) c.*998T>G (n.*998T>G) c.1202T>G (p.Ile401Ser) c.971T>G (p.Ile324Ser) c.1143-1098T>G (n.1143-1098T>G) c.1214T>G (p.Ile405Ser) | |
9 | g.99146556T= | CA1867263874 | TGFBR1 | c.995T= (p.Ile332=) c.1007T= (p.Ile336=) c.*124T= (n.*124T=) c.764T= (p.Ile255=) c.*998T= (n.*998T=) c.1202T= (p.Ile401=) c.971T= (p.Ile324=) c.1143-1098T= (n.1143-1098T=) c.1214T= (p.Ile405=) | |
9 | g.99146557C>A | CA466435364 | TGFBR1 | c.996C>A (p.Ile332=) c.1008C>A (p.Ile336=) c.*125C>A (n.*125C>A) c.765C>A (p.Ile255=) c.*999C>A (n.*999C>A) c.1203C>A (p.Ile401=) c.972C>A (p.Ile324=) c.1143-1097C>A (n.1143-1097C>A) c.1215C>A (p.Ile405=) | ClinVar dbSNP gnomAD v4 |
9 | g.99146557C= | CA1867263880 | TGFBR1 | c.996C= (p.Ile332=) c.1008C= (p.Ile336=) c.*125C= (n.*125C=) c.765C= (p.Ile255=) c.*999C= (n.*999C=) c.1203C= (p.Ile401=) c.972C= (p.Ile324=) c.1143-1097C= (n.1143-1097C=) c.1215C= (p.Ile405=) | |
9 | g.99146557C>G | CA374232971 | TGFBR1 | c.996C>G (p.Ile332Met) c.1008C>G (p.Ile336Met) c.*125C>G (n.*125C>G) c.765C>G (p.Ile255Met) c.*999C>G (n.*999C>G) c.1203C>G (p.Ile401Met) c.972C>G (p.Ile324Met) c.1143-1097C>G (n.1143-1097C>G) c.1215C>G (p.Ile405Met) | ClinVar gnomAD v4 |
9 | g.99146557C>T | CA044274 | TGFBR1 | c.996C>T (p.Ile332=) c.1008C>T (p.Ile336=) c.*125C>T (n.*125C>T) c.765C>T (p.Ile255=) c.*999C>T (n.*999C>T) c.1203C>T (p.Ile401=) c.972C>T (p.Ile324=) c.1143-1097C>T (n.1143-1097C>T) c.1215C>T (p.Ile405=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99146558T>A | CA374232974 | TGFBR1 | c.997T>A (p.Tyr333Asn) c.1009T>A (p.Tyr337Asn) c.*126T>A (n.*126T>A) c.766T>A (p.Tyr256Asn) c.*1000T>A (n.*1000T>A) c.1204T>A (p.Tyr402Asn) c.973T>A (p.Tyr325Asn) c.1143-1096T>A (n.1143-1096T>A) c.1216T>A (p.Tyr406Asn) | |
9 | g.99146558T>C | CA374232977 | TGFBR1 | c.997T>C (p.Tyr333His) c.1009T>C (p.Tyr337His) c.*126T>C (n.*126T>C) c.766T>C (p.Tyr256His) c.*1000T>C (n.*1000T>C) c.1204T>C (p.Tyr402His) c.973T>C (p.Tyr325His) c.1143-1096T>C (n.1143-1096T>C) c.1216T>C (p.Tyr406His) | |
9 | g.99146558T>G | CA374232976 | TGFBR1 | c.997T>G (p.Tyr333Asp) c.1009T>G (p.Tyr337Asp) c.*126T>G (n.*126T>G) c.766T>G (p.Tyr256Asp) c.*1000T>G (n.*1000T>G) c.1204T>G (p.Tyr402Asp) c.973T>G (p.Tyr325Asp) c.1143-1096T>G (n.1143-1096T>G) c.1216T>G (p.Tyr406Asp) | |
9 | g.99146558_99146559insTTGG | CA2720314617 | TGFBR1 | c.997_998insTTGG (p.Tyr333PhefsTer22) c.1009_1010insTTGG (p.Tyr337PhefsTer22) c.*126_*127insTTGG (n.*126_*127insTTGG) c.766_767insTTGG (p.Tyr256PhefsTer22) c.*1000_*1001insTTGG (n.*1000_*1001insTTGG) c.1204_1205insTTGG (p.Tyr402PhefsTer22) c.973_974insTTGG (p.Tyr325PhefsTer22) c.1143-1096_1143-1095insTTGG (n.1143-1096_1143-1095insTTGG) c.1216_1217insTTGG (p.Tyr406PhefsTer22) | dbSNP |
9 | g.99146559A= | CA1867263886 | TGFBR1 | c.998A= (p.Tyr333=) c.1010A= (p.Tyr337=) c.*127A= (n.*127A=) c.767A= (p.Tyr256=) c.*1001A= (n.*1001A=) c.1205A= (p.Tyr402=) c.974A= (p.Tyr325=) c.1143-1095A= (n.1143-1095A=) c.1217A= (p.Tyr406=) | |
9 | g.99146559A>C | CA374232979 | TGFBR1 | c.998A>C (p.Tyr333Ser) c.1010A>C (p.Tyr337Ser) c.*127A>C (n.*127A>C) c.767A>C (p.Tyr256Ser) c.*1001A>C (n.*1001A>C) c.1205A>C (p.Tyr402Ser) c.974A>C (p.Tyr325Ser) c.1143-1095A>C (n.1143-1095A>C) c.1217A>C (p.Tyr406Ser) | |
9 | g.99146559A>G | CA044286 | TGFBR1 | c.998A>G (p.Tyr333Cys) c.1010A>G (p.Tyr337Cys) c.*127A>G (n.*127A>G) c.767A>G (p.Tyr256Cys) c.*1001A>G (n.*1001A>G) c.1205A>G (p.Tyr402Cys) c.974A>G (p.Tyr325Cys) c.1143-1095A>G (n.1143-1095A>G) c.1217A>G (p.Tyr406Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99146559A>T | CA374232981 | TGFBR1 | c.998A>T (p.Tyr333Phe) c.1010A>T (p.Tyr337Phe) c.*127A>T (n.*127A>T) c.767A>T (p.Tyr256Phe) c.*1001A>T (n.*1001A>T) c.1205A>T (p.Tyr402Phe) c.974A>T (p.Tyr325Phe) c.1143-1095A>T (n.1143-1095A>T) c.1217A>T (p.Tyr406Phe) | |
9 | g.99146560T>A | CA374232982 | TGFBR1 | c.999T>A (p.Tyr333Ter) c.1011T>A (p.Tyr337Ter) c.*128T>A (n.*128T>A) c.768T>A (p.Tyr256Ter) c.*1002T>A (n.*1002T>A) c.1206T>A (p.Tyr402Ter) c.975T>A (p.Tyr325Ter) c.1143-1094T>A (n.1143-1094T>A) c.1218T>A (p.Tyr406Ter) | |
9 | g.99146560T>C | CA466435371 | TGFBR1 | c.999T>C (p.Tyr333=) c.1011T>C (p.Tyr337=) c.*128T>C (n.*128T>C) c.768T>C (p.Tyr256=) c.*1002T>C (n.*1002T>C) c.1206T>C (p.Tyr402=) c.975T>C (p.Tyr325=) c.1143-1094T>C (n.1143-1094T>C) c.1218T>C (p.Tyr406=) | |
9 | g.99146560T>G | CA374232983 | TGFBR1 | c.999T>G (p.Tyr333Ter) c.1011T>G (p.Tyr337Ter) c.*128T>G (n.*128T>G) c.768T>G (p.Tyr256Ter) c.*1002T>G (n.*1002T>G) c.1206T>G (p.Tyr402Ter) c.975T>G (p.Tyr325Ter) c.1143-1094T>G (n.1143-1094T>G) c.1218T>G (p.Tyr406Ter) | |
9 | g.99146561G>A | CA374232985 | TGFBR1 | c.1000G>A (p.Ala334Thr) c.1012G>A (p.Ala338Thr) c.*129G>A (n.*129G>A) c.769G>A (p.Ala257Thr) c.*1003G>A (n.*1003G>A) c.1207G>A (p.Ala403Thr) c.976G>A (p.Ala326Thr) c.1143-1093G>A (n.1143-1093G>A) c.1219G>A (p.Ala407Thr) | |
9 | g.99146561G>C | CA374232988 | TGFBR1 | c.1000G>C (p.Ala334Pro) c.1012G>C (p.Ala338Pro) c.*129G>C (n.*129G>C) c.769G>C (p.Ala257Pro) c.*1003G>C (n.*1003G>C) c.1207G>C (p.Ala403Pro) c.976G>C (p.Ala326Pro) c.1143-1093G>C (n.1143-1093G>C) c.1219G>C (p.Ala407Pro) | |
9 | g.99146561G>T | CA374232990 | TGFBR1 | c.1000G>T (p.Ala334Ser) c.1012G>T (p.Ala338Ser) c.*129G>T (n.*129G>T) c.769G>T (p.Ala257Ser) c.*1003G>T (n.*1003G>T) c.1207G>T (p.Ala403Ser) c.976G>T (p.Ala326Ser) c.1143-1093G>T (n.1143-1093G>T) c.1219G>T (p.Ala407Ser) | |
9 | g.99146561_99146562insAACCTCCTTTCAGA | CA2720314621 | TGFBR1 | c.1000_1001insAACCTCCTTTCAGA (p.Ala334GlufsTer9) c.1012_1013insAACCTCCTTTCAGA (p.Ala338GlufsTer9) c.*129_*130insAACCTCCTTTCAGA (n.*129_*130insAACCTCCTTTCAGA) c.769_770insAACCTCCTTTCAGA (p.Ala257GlufsTer9) c.*1003_*1004insAACCTCCTTTCAGA (n.*1003_*1004insAACCTCCTTTCAGA) c.1207_1208insAACCTCCTTTCAGA (p.Ala403GlufsTer9) c.976_977insAACCTCCTTTCAGA (p.Ala326GlufsTer9) c.1143-1093_1143-1092insAACCTCCTTTCAGA (n.1143-1093_1143-1092insAACCTCCTTTCAGA) c.1219_1220insAACCTCCTTTCAGA (p.Ala407GlufsTer9) | dbSNP |
9 | g.99146562C>A | CA374232992 | TGFBR1 | c.1001C>A (p.Ala334Glu) c.1013C>A (p.Ala338Glu) c.*130C>A (n.*130C>A) c.770C>A (p.Ala257Glu) c.*1004C>A (n.*1004C>A) c.1208C>A (p.Ala403Glu) c.977C>A (p.Ala326Glu) c.1143-1092C>A (n.1143-1092C>A) c.1220C>A (p.Ala407Glu) | |
9 | g.99146562C= | CA1867263890 | TGFBR1 | c.1001C= (p.Ala334=) c.1013C= (p.Ala338=) c.*130C= (n.*130C=) c.770C= (p.Ala257=) c.*1004C= (n.*1004C=) c.1208C= (p.Ala403=) c.977C= (p.Ala326=) c.1143-1092C= (n.1143-1092C=) c.1220C= (p.Ala407=) | |
9 | g.99146562C>G | CA044303 | TGFBR1 | c.1001C>G (p.Ala334Gly) c.1013C>G (p.Ala338Gly) c.*130C>G (n.*130C>G) c.770C>G (p.Ala257Gly) c.*1004C>G (n.*1004C>G) c.1208C>G (p.Ala403Gly) c.977C>G (p.Ala326Gly) c.1143-1092C>G (n.1143-1092C>G) c.1220C>G (p.Ala407Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99146562C>T | CA044324 | TGFBR1 | c.1001C>T (p.Ala334Val) c.1013C>T (p.Ala338Val) c.*130C>T (n.*130C>T) c.770C>T (p.Ala257Val) c.*1004C>T (n.*1004C>T) c.1208C>T (p.Ala403Val) c.977C>T (p.Ala326Val) c.1143-1092C>T (n.1143-1092C>T) c.1220C>T (p.Ala407Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.99146563A>C | CA466435373 | TGFBR1 | c.1002A>C (p.Ala334=) c.1014A>C (p.Ala338=) c.*131A>C (n.*131A>C) c.771A>C (p.Ala257=) c.*1005A>C (n.*1005A>C) c.1209A>C (p.Ala403=) c.978A>C (p.Ala326=) c.1143-1091A>C (n.1143-1091A>C) c.1221A>C (p.Ala407=) | |
9 | g.99146563A>G | CA466435375 | TGFBR1 | c.1002A>G (p.Ala334=) c.1014A>G (p.Ala338=) c.*131A>G (n.*131A>G) c.771A>G (p.Ala257=) c.*1005A>G (n.*1005A>G) c.1209A>G (p.Ala403=) c.978A>G (p.Ala326=) c.1143-1091A>G (n.1143-1091A>G) c.1221A>G (p.Ala407=) | |
9 | g.99146563A>T | CA466435377 | TGFBR1 | c.1002A>T (p.Ala334=) c.1014A>T (p.Ala338=) c.*131A>T (n.*131A>T) c.771A>T (p.Ala257=) c.*1005A>T (n.*1005A>T) c.1209A>T (p.Ala403=) c.978A>T (p.Ala326=) c.1143-1091A>T (n.1143-1091A>T) c.1221A>T (p.Ala407=) | |
9 | g.99146564A= | CA1867263895 | TGFBR1 | c.1003A= (p.Met335=) c.1015A= (p.Met339=) c.*132A= (n.*132A=) c.772A= (p.Met258=) c.*1006A= (n.*1006A=) c.1210A= (p.Met404=) c.979A= (p.Met327=) c.1143-1090A= (n.1143-1090A=) c.1222A= (p.Met408=) | |
9 | g.99146564A>C | CA374233000 | TGFBR1 | c.1003A>C (p.Met335Leu) c.1015A>C (p.Met339Leu) c.*132A>C (n.*132A>C) c.772A>C (p.Met258Leu) c.*1006A>C (n.*1006A>C) c.1210A>C (p.Met404Leu) c.979A>C (p.Met327Leu) c.1143-1090A>C (n.1143-1090A>C) c.1222A>C (p.Met408Leu) | |
9 | g.99146564A>G | CA044334 | TGFBR1 | c.1003A>G (p.Met335Val) c.1015A>G (p.Met339Val) c.*132A>G (n.*132A>G) c.772A>G (p.Met258Val) c.*1006A>G (n.*1006A>G) c.1210A>G (p.Met404Val) c.979A>G (p.Met327Val) c.1143-1090A>G (n.1143-1090A>G) c.1222A>G (p.Met408Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99146564A>T | CA374232997 | TGFBR1 | c.1003A>T (p.Met335Leu) c.1015A>T (p.Met339Leu) c.*132A>T (n.*132A>T) c.772A>T (p.Met258Leu) c.*1006A>T (n.*1006A>T) c.1210A>T (p.Met404Leu) c.979A>T (p.Met327Leu) c.1143-1090A>T (n.1143-1090A>T) c.1222A>T (p.Met408Leu) | dbSNP |
9 | g.99146565T>A | CA374233002 | TGFBR1 | c.1004T>A (p.Met335Lys) c.1016T>A (p.Met339Lys) c.*133T>A (n.*133T>A) c.773T>A (p.Met258Lys) c.*1007T>A (n.*1007T>A) c.1211T>A (p.Met404Lys) c.980T>A (p.Met327Lys) c.1143-1089T>A (n.1143-1089T>A) c.1223T>A (p.Met408Lys) | |
9 | g.99146565T>C | CA374233005 | TGFBR1 | c.1004T>C (p.Met335Thr) c.1016T>C (p.Met339Thr) c.*133T>C (n.*133T>C) c.773T>C (p.Met258Thr) c.*1007T>C (n.*1007T>C) c.1211T>C (p.Met404Thr) c.980T>C (p.Met327Thr) c.1143-1089T>C (n.1143-1089T>C) c.1223T>C (p.Met408Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99146565T>G | CA374233007 | TGFBR1 | c.1004T>G (p.Met335Arg) c.1016T>G (p.Met339Arg) c.*133T>G (n.*133T>G) c.773T>G (p.Met258Arg) c.*1007T>G (n.*1007T>G) c.1211T>G (p.Met404Arg) c.980T>G (p.Met327Arg) c.1143-1089T>G (n.1143-1089T>G) c.1223T>G (p.Met408Arg) | |
9 | g.99146565T= | CA1867263899 | TGFBR1 | c.1004T= (p.Met335=) c.1016T= (p.Met339=) c.*133T= (n.*133T=) c.773T= (p.Met258=) c.*1007T= (n.*1007T=) c.1211T= (p.Met404=) c.980T= (p.Met327=) c.1143-1089T= (n.1143-1089T=) c.1223T= (p.Met408=) | |
9 | g.99146566G>A | CA374233012 | TGFBR1 | c.1005G>A (p.Met335Ile) c.1017G>A (p.Met339Ile) c.*134G>A (n.*134G>A) c.774G>A (p.Met258Ile) c.*1008G>A (n.*1008G>A) c.1212G>A (p.Met404Ile) c.981G>A (p.Met327Ile) c.1143-1088G>A (n.1143-1088G>A) c.1224G>A (p.Met408Ile) | |
9 | g.99146566G>C | CA374233014 | TGFBR1 | c.1005G>C (p.Met335Ile) c.1017G>C (p.Met339Ile) c.*134G>C (n.*134G>C) c.774G>C (p.Met258Ile) c.*1008G>C (n.*1008G>C) c.1212G>C (p.Met404Ile) c.981G>C (p.Met327Ile) c.1143-1088G>C (n.1143-1088G>C) c.1224G>C (p.Met408Ile) | |
9 | g.99146566G>T | CA374233019 | TGFBR1 | c.1005G>T (p.Met335Ile) c.1017G>T (p.Met339Ile) c.*134G>T (n.*134G>T) c.774G>T (p.Met258Ile) c.*1008G>T (n.*1008G>T) c.1212G>T (p.Met404Ile) c.981G>T (p.Met327Ile) c.1143-1088G>T (n.1143-1088G>T) c.1224G>T (p.Met408Ile) | gnomAD v4 |
9 | g.99146567G>A | CA374233022 | TGFBR1 | c.1006G>A (p.Gly336Ser) c.1018G>A (p.Gly340Ser) c.*135G>A (n.*135G>A) c.775G>A (p.Gly259Ser) c.*1009G>A (n.*1009G>A) c.1213G>A (p.Gly405Ser) c.982G>A (p.Gly328Ser) c.1143-1087G>A (n.1143-1087G>A) c.1225G>A (p.Gly409Ser) | |
9 | g.99146567G>C | CA374233023 | TGFBR1 | c.1006G>C (p.Gly336Arg) c.1018G>C (p.Gly340Arg) c.*135G>C (n.*135G>C) c.775G>C (p.Gly259Arg) c.*1009G>C (n.*1009G>C) c.1213G>C (p.Gly405Arg) c.982G>C (p.Gly328Arg) c.1143-1087G>C (n.1143-1087G>C) c.1225G>C (p.Gly409Arg) | |
9 | g.99146567G>T | CA374233025 | TGFBR1 | c.1006G>T (p.Gly336Cys) c.1018G>T (p.Gly340Cys) c.*135G>T (n.*135G>T) c.775G>T (p.Gly259Cys) c.*1009G>T (n.*1009G>T) c.1213G>T (p.Gly405Cys) c.982G>T (p.Gly328Cys) c.1143-1087G>T (n.1143-1087G>T) c.1225G>T (p.Gly409Cys) | |
9 | g.99146568G>A | CA374233027 | TGFBR1 | c.1007G>A (p.Gly336Asp) c.1019G>A (p.Gly340Asp) c.*136G>A (n.*136G>A) c.776G>A (p.Gly259Asp) c.*1010G>A (n.*1010G>A) c.1214G>A (p.Gly405Asp) c.983G>A (p.Gly328Asp) c.1143-1086G>A (n.1143-1086G>A) c.1226G>A (p.Gly409Asp) | dbSNP |
9 | g.99146568G>C | CA374233028 | TGFBR1 | c.1007G>C (p.Gly336Ala) c.1019G>C (p.Gly340Ala) c.*136G>C (n.*136G>C) c.776G>C (p.Gly259Ala) c.*1010G>C (n.*1010G>C) c.1214G>C (p.Gly405Ala) c.983G>C (p.Gly328Ala) c.1143-1086G>C (n.1143-1086G>C) c.1226G>C (p.Gly409Ala) | |
9 | g.99146568G>T | CA374233029 | TGFBR1 | c.1007G>T (p.Gly336Val) c.1019G>T (p.Gly340Val) c.*136G>T (n.*136G>T) c.776G>T (p.Gly259Val) c.*1010G>T (n.*1010G>T) c.1214G>T (p.Gly405Val) c.983G>T (p.Gly328Val) c.1143-1086G>T (n.1143-1086G>T) c.1226G>T (p.Gly409Val) | gnomAD v4 |
9 | g.99146569C>A | CA466435379 | TGFBR1 | c.1008C>A (p.Gly336=) c.1020C>A (p.Gly340=) c.*137C>A (n.*137C>A) c.777C>A (p.Gly259=) c.*1011C>A (n.*1011C>A) c.1215C>A (p.Gly405=) c.984C>A (p.Gly328=) c.1143-1085C>A (n.1143-1085C>A) c.1227C>A (p.Gly409=) | |
9 | g.99146569C>G | CA466435380 | TGFBR1 | c.1008C>G (p.Gly336=) c.1020C>G (p.Gly340=) c.*137C>G (n.*137C>G) c.777C>G (p.Gly259=) c.*1011C>G (n.*1011C>G) c.1215C>G (p.Gly405=) c.984C>G (p.Gly328=) c.1143-1085C>G (n.1143-1085C>G) c.1227C>G (p.Gly409=) | |
9 | g.99146569C>T | CA466435381 | TGFBR1 | c.1008C>T (p.Gly336=) c.1020C>T (p.Gly340=) c.*137C>T (n.*137C>T) c.777C>T (p.Gly259=) c.*1011C>T (n.*1011C>T) c.1215C>T (p.Gly405=) c.984C>T (p.Gly328=) c.1143-1085C>T (n.1143-1085C>T) c.1227C>T (p.Gly409=) | |
9 | g.99146570T>A | CA044656 | TGFBR1 | c.1009T>A (p.Leu337Ile) c.1021T>A (p.Leu341Ile) c.*138T>A (n.*138T>A) c.778T>A (p.Leu260Ile) c.*1012T>A (n.*1012T>A) c.1216T>A (p.Leu406Ile) c.985T>A (p.Leu329Ile) c.1143-1084T>A (n.1143-1084T>A) c.1228T>A (p.Leu410Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99146570T>C | CA008730 | TGFBR1 | c.1009T>C (p.Leu337=) c.1021T>C (p.Leu341=) c.*138T>C (n.*138T>C) c.778T>C (p.Leu260=) c.*1012T>C (n.*1012T>C) c.1216T>C (p.Leu406=) c.985T>C (p.Leu329=) c.1143-1084T>C (n.1143-1084T>C) c.1228T>C (p.Leu410=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99146570T>G | CA374233033 | TGFBR1 | c.1009T>G (p.Leu337Val) c.1021T>G (p.Leu341Val) c.*138T>G (n.*138T>G) c.778T>G (p.Leu260Val) c.*1012T>G (n.*1012T>G) c.1216T>G (p.Leu406Val) c.985T>G (p.Leu329Val) c.1143-1084T>G (n.1143-1084T>G) c.1228T>G (p.Leu410Val) | COSMIC |
9 | g.99146570T= | CA1867263905 | TGFBR1 | c.1009T= (p.Leu337=) c.1021T= (p.Leu341=) c.*138T= (n.*138T=) c.778T= (p.Leu260=) c.*1012T= (n.*1012T=) c.1216T= (p.Leu406=) c.985T= (p.Leu329=) c.1143-1084T= (n.1143-1084T=) c.1228T= (p.Leu410=) | |
9 | g.99146571T>A | CA374233036 | TGFBR1 | c.1010T>A (p.Leu337Ter) c.1022T>A (p.Leu341Ter) c.*139T>A (n.*139T>A) c.779T>A (p.Leu260Ter) c.*1013T>A (n.*1013T>A) c.1217T>A (p.Leu406Ter) c.986T>A (p.Leu329Ter) c.1143-1083T>A (n.1143-1083T>A) c.1229T>A (p.Leu410Ter) | |
9 | g.99146571T>C | CA374233037 | TGFBR1 | c.1010T>C (p.Leu337Ser) c.1022T>C (p.Leu341Ser) c.*139T>C (n.*139T>C) c.779T>C (p.Leu260Ser) c.*1013T>C (n.*1013T>C) c.1217T>C (p.Leu406Ser) c.986T>C (p.Leu329Ser) c.1143-1083T>C (n.1143-1083T>C) c.1229T>C (p.Leu410Ser) | |
9 | g.99146571T>G | CA374233039 | TGFBR1 | c.1010T>G (p.Leu337Ter) c.1022T>G (p.Leu341Ter) c.*139T>G (n.*139T>G) c.779T>G (p.Leu260Ter) c.*1013T>G (n.*1013T>G) c.1217T>G (p.Leu406Ter) c.986T>G (p.Leu329Ter) c.1143-1083T>G (n.1143-1083T>G) c.1229T>G (p.Leu410Ter) | |
9 | g.99146572A= | CA1867263915 | TGFBR1 | c.1011A= (p.Leu337=) c.1023A= (p.Leu341=) c.*140A= (n.*140A=) c.780A= (p.Leu260=) c.*1014A= (n.*1014A=) c.1218A= (p.Leu406=) c.987A= (p.Leu329=) c.1143-1082A= (n.1143-1082A=) c.1230A= (p.Leu410=) | |
9 | g.99146572A>C | CA374233040 | TGFBR1 | c.1011A>C (p.Leu337Phe) c.1023A>C (p.Leu341Phe) c.*140A>C (n.*140A>C) c.780A>C (p.Leu260Phe) c.*1014A>C (n.*1014A>C) c.1218A>C (p.Leu406Phe) c.987A>C (p.Leu329Phe) c.1143-1082A>C (n.1143-1082A>C) c.1230A>C (p.Leu410Phe) | |
9 | g.99146572A>G | CA044775 | TGFBR1 | c.1011A>G (p.Leu337=) c.1023A>G (p.Leu341=) c.*140A>G (n.*140A>G) c.780A>G (p.Leu260=) c.*1014A>G (n.*1014A>G) c.1218A>G (p.Leu406=) c.987A>G (p.Leu329=) c.1143-1082A>G (n.1143-1082A>G) c.1230A>G (p.Leu410=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.99146572A>T | CA374233042 | TGFBR1 | c.1011A>T (p.Leu337Phe) c.1023A>T (p.Leu341Phe) c.*140A>T (n.*140A>T) c.780A>T (p.Leu260Phe) c.*1014A>T (n.*1014A>T) c.1218A>T (p.Leu406Phe) c.987A>T (p.Leu329Phe) c.1143-1082A>T (n.1143-1082A>T) c.1230A>T (p.Leu410Phe) | |
9 | g.99146573G>A | CA374233049 | TGFBR1 | c.1012G>A (p.Val338Ile) c.1024G>A (p.Val342Ile) c.*141G>A (n.*141G>A) c.781G>A (p.Val261Ile) c.*1015G>A (n.*1015G>A) c.1219G>A (p.Val407Ile) c.988G>A (p.Val330Ile) c.1143-1081G>A (n.1143-1081G>A) c.1231G>A (p.Val411Ile) | COSMIC |
9 | g.99146573G>C | CA196894196 | TGFBR1 | c.1012G>C (p.Val338Leu) c.1024G>C (p.Val342Leu) c.*141G>C (n.*141G>C) c.781G>C (p.Val261Leu) c.*1015G>C (n.*1015G>C) c.1219G>C (p.Val407Leu) c.988G>C (p.Val330Leu) c.1143-1081G>C (n.1143-1081G>C) c.1231G>C (p.Val411Leu) | dbSNP |
9 | g.99146573G= | CA1867263921 | TGFBR1 | c.1012G= (p.Val338=) c.1024G= (p.Val342=) c.*141G= (n.*141G=) c.781G= (p.Val261=) c.*1015G= (n.*1015G=) c.1219G= (p.Val407=) c.988G= (p.Val330=) c.1143-1081G= (n.1143-1081G=) c.1231G= (p.Val411=) | |
9 | g.99146573G>T | CA374233045 | TGFBR1 | c.1012G>T (p.Val338Leu) c.1024G>T (p.Val342Leu) c.*141G>T (n.*141G>T) c.781G>T (p.Val261Leu) c.*1015G>T (n.*1015G>T) c.1219G>T (p.Val407Leu) c.988G>T (p.Val330Leu) c.1143-1081G>T (n.1143-1081G>T) c.1231G>T (p.Val411Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.99146574T>A | CA374233051 | TGFBR1 | c.1013T>A (p.Val338Glu) c.1025T>A (p.Val342Glu) c.*142T>A (n.*142T>A) c.782T>A (p.Val261Glu) c.*1016T>A (n.*1016T>A) c.1220T>A (p.Val407Glu) c.989T>A (p.Val330Glu) c.1143-1080T>A (n.1143-1080T>A) c.1232T>A (p.Val411Glu) | |
9 | g.99146574T>C | CA374233053 | TGFBR1 | c.1013T>C (p.Val338Ala) c.1025T>C (p.Val342Ala) c.*142T>C (n.*142T>C) c.782T>C (p.Val261Ala) c.*1016T>C (n.*1016T>C) c.1220T>C (p.Val407Ala) c.989T>C (p.Val330Ala) c.1143-1080T>C (n.1143-1080T>C) c.1232T>C (p.Val411Ala) | |
9 | g.99146574T>G | CA374233054 | TGFBR1 | c.1013T>G (p.Val338Gly) c.1025T>G (p.Val342Gly) c.*142T>G (n.*142T>G) c.782T>G (p.Val261Gly) c.*1016T>G (n.*1016T>G) c.1220T>G (p.Val407Gly) c.989T>G (p.Val330Gly) c.1143-1080T>G (n.1143-1080T>G) c.1232T>G (p.Val411Gly) | |
9 | g.99146575A>C | CA466435386 | TGFBR1 | c.1014A>C (p.Val338=) c.1026A>C (p.Val342=) c.*143A>C (n.*143A>C) c.783A>C (p.Val261=) c.*1017A>C (n.*1017A>C) c.1221A>C (p.Val407=) c.990A>C (p.Val330=) c.1143-1079A>C (n.1143-1079A>C) c.1233A>C (p.Val411=) | |
9 | g.99146575A>G | CA466435387 | TGFBR1 | c.1014A>G (p.Val338=) c.1026A>G (p.Val342=) c.*143A>G (n.*143A>G) c.783A>G (p.Val261=) c.*1017A>G (n.*1017A>G) c.1221A>G (p.Val407=) c.990A>G (p.Val330=) c.1143-1079A>G (n.1143-1079A>G) c.1233A>G (p.Val411=) | gnomAD v4 |
9 | g.99146575A>T | CA466435388 | TGFBR1 | c.1014A>T (p.Val338=) c.1026A>T (p.Val342=) c.*143A>T (n.*143A>T) c.783A>T (p.Val261=) c.*1017A>T (n.*1017A>T) c.1221A>T (p.Val407=) c.990A>T (p.Val330=) c.1143-1079A>T (n.1143-1079A>T) c.1233A>T (p.Val411=) | |
9 | g.99146576T>A | CA374233057 | TGFBR1 | c.1015T>A (p.Phe339Ile) c.1027T>A (p.Phe343Ile) c.*144T>A (n.*144T>A) c.784T>A (p.Phe262Ile) c.*1018T>A (n.*1018T>A) c.1222T>A (p.Phe408Ile) c.991T>A (p.Phe331Ile) c.1143-1078T>A (n.1143-1078T>A) c.1234T>A (p.Phe412Ile) | ClinVar dbSNP |
9 | g.99146576T>C | CA374233059 | TGFBR1 | c.1015T>C (p.Phe339Leu) c.1027T>C (p.Phe343Leu) c.*144T>C (n.*144T>C) c.784T>C (p.Phe262Leu) c.*1018T>C (n.*1018T>C) c.1222T>C (p.Phe408Leu) c.991T>C (p.Phe331Leu) c.1143-1078T>C (n.1143-1078T>C) c.1234T>C (p.Phe412Leu) | |
9 | g.99146576T>G | CA374233061 | TGFBR1 | c.1015T>G (p.Phe339Val) c.1027T>G (p.Phe343Val) c.*144T>G (n.*144T>G) c.784T>G (p.Phe262Val) c.*1018T>G (n.*1018T>G) c.1222T>G (p.Phe408Val) c.991T>G (p.Phe331Val) c.1143-1078T>G (n.1143-1078T>G) c.1234T>G (p.Phe412Val) | |
9 | g.99146576T= | CA1867263925 | TGFBR1 | c.1015T= (p.Phe339=) c.1027T= (p.Phe343=) c.*144T= (n.*144T=) c.784T= (p.Phe262=) c.*1018T= (n.*1018T=) c.1222T= (p.Phe408=) c.991T= (p.Phe331=) c.1143-1078T= (n.1143-1078T=) c.1234T= (p.Phe412=) | |
9 | g.99146577T>A | CA374233066 | TGFBR1 | c.1016T>A (p.Phe339Tyr) c.1028T>A (p.Phe343Tyr) c.*145T>A (n.*145T>A) c.785T>A (p.Phe262Tyr) c.*1019T>A (n.*1019T>A) c.1223T>A (p.Phe408Tyr) c.992T>A (p.Phe331Tyr) c.1143-1077T>A (n.1143-1077T>A) c.1235T>A (p.Phe412Tyr) | gnomAD v4 |
9 | g.99146577T>C | CA374233063 | TGFBR1 | c.1016T>C (p.Phe339Ser) c.1028T>C (p.Phe343Ser) c.*145T>C (n.*145T>C) c.785T>C (p.Phe262Ser) c.*1019T>C (n.*1019T>C) c.1223T>C (p.Phe408Ser) c.992T>C (p.Phe331Ser) c.1143-1077T>C (n.1143-1077T>C) c.1235T>C (p.Phe412Ser) | |
9 | g.99146577T>G | CA374233064 | TGFBR1 | c.1016T>G (p.Phe339Cys) c.1028T>G (p.Phe343Cys) c.*145T>G (n.*145T>G) c.785T>G (p.Phe262Cys) c.*1019T>G (n.*1019T>G) c.1223T>G (p.Phe408Cys) c.992T>G (p.Phe331Cys) c.1143-1077T>G (n.1143-1077T>G) c.1235T>G (p.Phe412Cys) | |
9 | g.99146578C>A | CA374233068 | TGFBR1 | c.1017C>A (p.Phe339Leu) c.1029C>A (p.Phe343Leu) c.*146C>A (n.*146C>A) c.786C>A (p.Phe262Leu) c.*1020C>A (n.*1020C>A) c.1224C>A (p.Phe408Leu) c.993C>A (p.Phe331Leu) c.1143-1076C>A (n.1143-1076C>A) c.1236C>A (p.Phe412Leu) | |
9 | g.99146578C>G | CA374233070 | TGFBR1 | c.1017C>G (p.Phe339Leu) c.1029C>G (p.Phe343Leu) c.*146C>G (n.*146C>G) c.786C>G (p.Phe262Leu) c.*1020C>G (n.*1020C>G) c.1224C>G (p.Phe408Leu) c.993C>G (p.Phe331Leu) c.1143-1076C>G (n.1143-1076C>G) c.1236C>G (p.Phe412Leu) | ClinVar |
9 | g.99146578C>T | CA466435390 | TGFBR1 | c.1017C>T (p.Phe339=) c.1029C>T (p.Phe343=) c.*146C>T (n.*146C>T) c.786C>T (p.Phe262=) c.*1020C>T (n.*1020C>T) c.1224C>T (p.Phe408=) c.993C>T (p.Phe331=) c.1143-1076C>T (n.1143-1076C>T) c.1236C>T (p.Phe412=) | |
9 | g.99146579T>A | CA374233073 | TGFBR1 | c.1018T>A (p.Trp340Arg) c.1030T>A (p.Trp344Arg) c.*147T>A (n.*147T>A) c.787T>A (p.Trp263Arg) c.*1021T>A (n.*1021T>A) c.1225T>A (p.Trp409Arg) c.994T>A (p.Trp332Arg) c.1143-1075T>A (n.1143-1075T>A) c.1237T>A (p.Trp413Arg) | |
9 | g.99146579T>C | CA374233075 | TGFBR1 | c.1018T>C (p.Trp340Arg) c.1030T>C (p.Trp344Arg) c.*147T>C (n.*147T>C) c.787T>C (p.Trp263Arg) c.*1021T>C (n.*1021T>C) c.1225T>C (p.Trp409Arg) c.994T>C (p.Trp332Arg) c.1143-1075T>C (n.1143-1075T>C) c.1237T>C (p.Trp413Arg) | |
9 | g.99146579T>G | CA374233077 | TGFBR1 | c.1018T>G (p.Trp340Gly) c.1030T>G (p.Trp344Gly) c.*147T>G (n.*147T>G) c.787T>G (p.Trp263Gly) c.*1021T>G (n.*1021T>G) c.1225T>G (p.Trp409Gly) c.994T>G (p.Trp332Gly) c.1143-1075T>G (n.1143-1075T>G) c.1237T>G (p.Trp413Gly) | |
9 | g.99146582_99146610dup | CA2739264896 | TGFBR1 | c.1021_1048+1dup c.1033_1060+1dup c.*150_*177+1dup c.790_817+1dup c.*1024_*1051+1dup c.1228_1255+1dup c.997_1024+1dup c.1143-1072_1143-1044dup (n.1143-1072_1143-1044dup) c.1240_1267+1dup | ClinVar |
9 | g.99146580G>A | CA374233083 | TGFBR1 | c.1019G>A (p.Trp340Ter) c.1031G>A (p.Trp344Ter) c.*148G>A (n.*148G>A) c.788G>A (p.Trp263Ter) c.*1022G>A (n.*1022G>A) c.1226G>A (p.Trp409Ter) c.995G>A (p.Trp332Ter) c.1143-1074G>A (n.1143-1074G>A) c.1238G>A (p.Trp413Ter) | |
9 | g.99146580G>C | CA374233082 | TGFBR1 | c.1019G>C (p.Trp340Ser) c.1031G>C (p.Trp344Ser) c.*148G>C (n.*148G>C) c.788G>C (p.Trp263Ser) c.*1022G>C (n.*1022G>C) c.1226G>C (p.Trp409Ser) c.995G>C (p.Trp332Ser) c.1143-1074G>C (n.1143-1074G>C) c.1238G>C (p.Trp413Ser) | |
9 | g.99146580G>T | CA374233080 | TGFBR1 | c.1019G>T (p.Trp340Leu) c.1031G>T (p.Trp344Leu) c.*148G>T (n.*148G>T) c.788G>T (p.Trp263Leu) c.*1022G>T (n.*1022G>T) c.1226G>T (p.Trp409Leu) c.995G>T (p.Trp332Leu) c.1143-1074G>T (n.1143-1074G>T) c.1238G>T (p.Trp413Leu) | |
9 | g.99146581G>A | CA374233086 | TGFBR1 | c.1020G>A (p.Trp340Ter) c.1032G>A (p.Trp344Ter) c.*149G>A (n.*149G>A) c.789G>A (p.Trp263Ter) c.*1023G>A (n.*1023G>A) c.1227G>A (p.Trp409Ter) c.996G>A (p.Trp332Ter) c.1143-1073G>A (n.1143-1073G>A) c.1239G>A (p.Trp413Ter) | |
9 | g.99146581G>C | CA374233088 | TGFBR1 | c.1020G>C (p.Trp340Cys) c.1032G>C (p.Trp344Cys) c.*149G>C (n.*149G>C) c.789G>C (p.Trp263Cys) c.*1023G>C (n.*1023G>C) c.1227G>C (p.Trp409Cys) c.996G>C (p.Trp332Cys) c.1143-1073G>C (n.1143-1073G>C) c.1239G>C (p.Trp413Cys) | |
9 | g.99146581G>T | CA374233092 | TGFBR1 | c.1020G>T (p.Trp340Cys) c.1032G>T (p.Trp344Cys) c.*149G>T (n.*149G>T) c.789G>T (p.Trp263Cys) c.*1023G>T (n.*1023G>T) c.1227G>T (p.Trp409Cys) c.996G>T (p.Trp332Cys) c.1143-1073G>T (n.1143-1073G>T) c.1239G>T (p.Trp413Cys) | |
9 | g.99146582G>A | CA374233094 | TGFBR1 | c.1021G>A (p.Glu341Lys) c.1033G>A (p.Glu345Lys) c.*150G>A (n.*150G>A) c.790G>A (p.Glu264Lys) c.*1024G>A (n.*1024G>A) c.1228G>A (p.Glu410Lys) c.997G>A (p.Glu333Lys) c.1143-1072G>A (n.1143-1072G>A) c.1240G>A (p.Glu414Lys) | |
9 | g.99146582G>C | CA374233096 | TGFBR1 | c.1021G>C (p.Glu341Gln) c.1033G>C (p.Glu345Gln) c.*150G>C (n.*150G>C) c.790G>C (p.Glu264Gln) c.*1024G>C (n.*1024G>C) c.1228G>C (p.Glu410Gln) c.997G>C (p.Glu333Gln) c.1143-1072G>C (n.1143-1072G>C) c.1240G>C (p.Glu414Gln) | |
9 | g.99146582G>T | CA374233100 | TGFBR1 | c.1021G>T (p.Glu341Ter) c.1033G>T (p.Glu345Ter) c.*150G>T (n.*150G>T) c.790G>T (p.Glu264Ter) c.*1024G>T (n.*1024G>T) c.1228G>T (p.Glu410Ter) c.997G>T (p.Glu333Ter) c.1143-1072G>T (n.1143-1072G>T) c.1240G>T (p.Glu414Ter) | |
9 | g.99146583A= | CA1867263931 | TGFBR1 | c.1022A= (p.Glu341=) c.1034A= (p.Glu345=) c.*151A= (n.*151A=) c.791A= (p.Glu264=) c.*1025A= (n.*1025A=) c.1229A= (p.Glu410=) c.998A= (p.Glu333=) c.1143-1071A= (n.1143-1071A=) c.1241A= (p.Glu414=) | |
9 | g.99146583A>C | CA374233103 | TGFBR1 | c.1022A>C (p.Glu341Ala) c.1034A>C (p.Glu345Ala) c.*151A>C (n.*151A>C) c.791A>C (p.Glu264Ala) c.*1025A>C (n.*1025A>C) c.1229A>C (p.Glu410Ala) c.998A>C (p.Glu333Ala) c.1143-1071A>C (n.1143-1071A>C) c.1241A>C (p.Glu414Ala) | gnomAD v4 |
9 | g.99146583A>G | CA374233107 | TGFBR1 | c.1022A>G (p.Glu341Gly) c.1034A>G (p.Glu345Gly) c.*151A>G (n.*151A>G) c.791A>G (p.Glu264Gly) c.*1025A>G (n.*1025A>G) c.1229A>G (p.Glu410Gly) c.998A>G (p.Glu333Gly) c.1143-1071A>G (n.1143-1071A>G) c.1241A>G (p.Glu414Gly) | ClinVar dbSNP |
9 | g.99146583A>T | CA374233105 | TGFBR1 | c.1022A>T (p.Glu341Val) c.1034A>T (p.Glu345Val) c.*151A>T (n.*151A>T) c.791A>T (p.Glu264Val) c.*1025A>T (n.*1025A>T) c.1229A>T (p.Glu410Val) c.998A>T (p.Glu333Val) c.1143-1071A>T (n.1143-1071A>T) c.1241A>T (p.Glu414Val) | |
9 | g.99146592_99146620del | CA2580610796 | TGFBR1 | c.1031_1048+11del c.1043_1060+11del c.*160_*177+11del c.800_817+11del c.*1034_*1051+11del c.1238_1255+11del c.1007_1024+11del c.1143-1062_1143-1034del (n.1143-1062_1143-1034del) c.1250_1267+11del | |
9 | g.99146584A= | CA1867263933 | TGFBR1 | c.1023A= (p.Glu341=) c.1035A= (p.Glu345=) c.*152A= (n.*152A=) c.792A= (p.Glu264=) c.*1026A= (n.*1026A=) c.1230A= (p.Glu410=) c.999A= (p.Glu333=) c.1143-1070A= (n.1143-1070A=) c.1242A= (p.Glu414=) | |
9 | g.99146584A>C | CA374233108 | TGFBR1 | c.1023A>C (p.Glu341Asp) c.1035A>C (p.Glu345Asp) c.*152A>C (n.*152A>C) c.792A>C (p.Glu264Asp) c.*1026A>C (n.*1026A>C) c.1230A>C (p.Glu410Asp) c.999A>C (p.Glu333Asp) c.1143-1070A>C (n.1143-1070A>C) c.1242A>C (p.Glu414Asp) | |
9 | g.99146584A>G | CA466435392 | TGFBR1 | c.1023A>G (p.Glu341=) c.1035A>G (p.Glu345=) c.*152A>G (n.*152A>G) c.792A>G (p.Glu264=) c.*1026A>G (n.*1026A>G) c.1230A>G (p.Glu410=) c.999A>G (p.Glu333=) c.1143-1070A>G (n.1143-1070A>G) c.1242A>G (p.Glu414=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99146584A>T | CA374233109 | TGFBR1 | c.1023A>T (p.Glu341Asp) c.1035A>T (p.Glu345Asp) c.*152A>T (n.*152A>T) c.792A>T (p.Glu264Asp) c.*1026A>T (n.*1026A>T) c.1230A>T (p.Glu410Asp) c.999A>T (p.Glu333Asp) c.1143-1070A>T (n.1143-1070A>T) c.1242A>T (p.Glu414Asp) | |
9 | g.99146585A= | CA1867263936 | TGFBR1 | c.1024A= (p.Ile342=) c.1036A= (p.Ile346=) c.*153A= (n.*153A=) c.793A= (p.Ile265=) c.*1027A= (n.*1027A=) c.1231A= (p.Ile411=) c.1000A= (p.Ile334=) c.1143-1069A= (n.1143-1069A=) c.1243A= (p.Ile415=) | |
9 | g.99146585A>C | CA374233111 | TGFBR1 | c.1024A>C (p.Ile342Leu) c.1036A>C (p.Ile346Leu) c.*153A>C (n.*153A>C) c.793A>C (p.Ile265Leu) c.*1027A>C (n.*1027A>C) c.1231A>C (p.Ile411Leu) c.1000A>C (p.Ile334Leu) c.1143-1069A>C (n.1143-1069A>C) c.1243A>C (p.Ile415Leu) | |
9 | g.99146585A>G | CA324752 | TGFBR1 | c.1024A>G (p.Ile342Val) c.1036A>G (p.Ile346Val) c.*153A>G (n.*153A>G) c.793A>G (p.Ile265Val) c.*1027A>G (n.*1027A>G) c.1231A>G (p.Ile411Val) c.1000A>G (p.Ile334Val) c.1143-1069A>G (n.1143-1069A>G) c.1243A>G (p.Ile415Val) | ClinVar dbSNP |
9 | g.99146585A>T | CA374233113 | TGFBR1 | c.1024A>T (p.Ile342Phe) c.1036A>T (p.Ile346Phe) c.*153A>T (n.*153A>T) c.793A>T (p.Ile265Phe) c.*1027A>T (n.*1027A>T) c.1231A>T (p.Ile411Phe) c.1000A>T (p.Ile334Phe) c.1143-1069A>T (n.1143-1069A>T) c.1243A>T (p.Ile415Phe) | |
9 | g.99146586T>A | CA374233115 | TGFBR1 | c.1025T>A (p.Ile342Asn) c.1037T>A (p.Ile346Asn) c.*154T>A (n.*154T>A) c.794T>A (p.Ile265Asn) c.*1028T>A (n.*1028T>A) c.1232T>A (p.Ile411Asn) c.1001T>A (p.Ile334Asn) c.1143-1068T>A (n.1143-1068T>A) c.1244T>A (p.Ile415Asn) | |
9 | g.99146586T>C | CA039998 | TGFBR1 | c.1025T>C (p.Ile342Thr) c.1037T>C (p.Ile346Thr) c.*154T>C (n.*154T>C) c.794T>C (p.Ile265Thr) c.*1028T>C (n.*1028T>C) c.1232T>C (p.Ile411Thr) c.1001T>C (p.Ile334Thr) c.1143-1068T>C (n.1143-1068T>C) c.1244T>C (p.Ile415Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.99146586T>G | CA374233118 | TGFBR1 | c.1025T>G (p.Ile342Ser) c.1037T>G (p.Ile346Ser) c.*154T>G (n.*154T>G) c.794T>G (p.Ile265Ser) c.*1028T>G (n.*1028T>G) c.1232T>G (p.Ile411Ser) c.1001T>G (p.Ile334Ser) c.1143-1068T>G (n.1143-1068T>G) c.1244T>G (p.Ile415Ser) | |
9 | g.99146586T= | CA1867263938 | TGFBR1 | c.1025T= (p.Ile342=) c.1037T= (p.Ile346=) c.*154T= (n.*154T=) c.794T= (p.Ile265=) c.*1028T= (n.*1028T=) c.1232T= (p.Ile411=) c.1001T= (p.Ile334=) c.1143-1068T= (n.1143-1068T=) c.1244T= (p.Ile415=) | |
9 | g.99146587T>A | CA466435394 | TGFBR1 | c.1026T>A (p.Ile342=) c.1038T>A (p.Ile346=) c.*155T>A (n.*155T>A) c.795T>A (p.Ile265=) c.*1029T>A (n.*1029T>A) c.1233T>A (p.Ile411=) c.1002T>A (p.Ile334=) c.1143-1067T>A (n.1143-1067T>A) c.1245T>A (p.Ile415=) | |
9 | g.99146587T>C | CA466435395 | TGFBR1 | c.1026T>C (p.Ile342=) c.1038T>C (p.Ile346=) c.*155T>C (n.*155T>C) c.795T>C (p.Ile265=) c.*1029T>C (n.*1029T>C) c.1233T>C (p.Ile411=) c.1002T>C (p.Ile334=) c.1143-1067T>C (n.1143-1067T>C) c.1245T>C (p.Ile415=) | gnomAD v4 |
9 | g.99146587T>G | CA374233119 | TGFBR1 | c.1026T>G (p.Ile342Met) c.1038T>G (p.Ile346Met) c.*155T>G (n.*155T>G) c.795T>G (p.Ile265Met) c.*1029T>G (n.*1029T>G) c.1233T>G (p.Ile411Met) c.1002T>G (p.Ile334Met) c.1143-1067T>G (n.1143-1067T>G) c.1245T>G (p.Ile415Met) | |
9 | g.99146588G>A | CA374233121 | TGFBR1 | c.1027G>A (p.Ala343Thr) c.1039G>A (p.Ala347Thr) c.*156G>A (n.*156G>A) c.796G>A (p.Ala266Thr) c.*1030G>A (n.*1030G>A) c.1234G>A (p.Ala412Thr) c.1003G>A (p.Ala335Thr) c.1143-1066G>A (n.1143-1066G>A) c.1246G>A (p.Ala416Thr) | dbSNP |
9 | g.99146588G>C | CA374233123 | TGFBR1 | c.1027G>C (p.Ala343Pro) c.1039G>C (p.Ala347Pro) c.*156G>C (n.*156G>C) c.796G>C (p.Ala266Pro) c.*1030G>C (n.*1030G>C) c.1234G>C (p.Ala412Pro) c.1003G>C (p.Ala335Pro) c.1143-1066G>C (n.1143-1066G>C) c.1246G>C (p.Ala416Pro) | gnomAD v4 |
9 | g.99146588G= | CA1867263941 | TGFBR1 | c.1027G= (p.Ala343=) c.1039G= (p.Ala347=) c.*156G= (n.*156G=) c.796G= (p.Ala266=) c.*1030G= (n.*1030G=) c.1234G= (p.Ala412=) c.1003G= (p.Ala335=) c.1143-1066G= (n.1143-1066G=) c.1246G= (p.Ala416=) | |
9 | g.99146588G>T | CA374233125 | TGFBR1 | c.1027G>T (p.Ala343Ser) c.1039G>T (p.Ala347Ser) c.*156G>T (n.*156G>T) c.796G>T (p.Ala266Ser) c.*1030G>T (n.*1030G>T) c.1234G>T (p.Ala412Ser) c.1003G>T (p.Ala335Ser) c.1143-1066G>T (n.1143-1066G>T) c.1246G>T (p.Ala416Ser) | dbSNP |
9 | g.99146589C>A | CA374233131 | TGFBR1 | c.1028C>A (p.Ala343Asp) c.1040C>A (p.Ala347Asp) c.*157C>A (n.*157C>A) c.797C>A (p.Ala266Asp) c.*1031C>A (n.*1031C>A) c.1235C>A (p.Ala412Asp) c.1004C>A (p.Ala335Asp) c.1143-1065C>A (n.1143-1065C>A) c.1247C>A (p.Ala416Asp) | |
9 | g.99146589C= | CA1867263944 | TGFBR1 | c.1028C= (p.Ala343=) c.1040C= (p.Ala347=) c.*157C= (n.*157C=) c.797C= (p.Ala266=) c.*1031C= (n.*1031C=) c.1235C= (p.Ala412=) c.1004C= (p.Ala335=) c.1143-1065C= (n.1143-1065C=) c.1247C= (p.Ala416=) | |
9 | g.99146589C>G | CA196894221 | TGFBR1 | c.1028C>G (p.Ala343Gly) c.1040C>G (p.Ala347Gly) c.*157C>G (n.*157C>G) c.797C>G (p.Ala266Gly) c.*1031C>G (n.*1031C>G) c.1235C>G (p.Ala412Gly) c.1004C>G (p.Ala335Gly) c.1143-1065C>G (n.1143-1065C>G) c.1247C>G (p.Ala416Gly) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.99146589C>T | CA374233128 | TGFBR1 | c.1028C>T (p.Ala343Val) c.1040C>T (p.Ala347Val) c.*157C>T (n.*157C>T) c.797C>T (p.Ala266Val) c.*1031C>T (n.*1031C>T) c.1235C>T (p.Ala412Val) c.1004C>T (p.Ala335Val) c.1143-1065C>T (n.1143-1065C>T) c.1247C>T (p.Ala416Val) | dbSNP |
9 | g.99146590T>A | CA466435397 | TGFBR1 | c.1029T>A (p.Ala343=) c.1041T>A (p.Ala347=) c.*158T>A (n.*158T>A) c.798T>A (p.Ala266=) c.*1032T>A (n.*1032T>A) c.1236T>A (p.Ala412=) c.1005T>A (p.Ala335=) c.1143-1064T>A (n.1143-1064T>A) c.1248T>A (p.Ala416=) | |
9 | g.99146590T>C | CA466435398 | TGFBR1 | c.1029T>C (p.Ala343=) c.1041T>C (p.Ala347=) c.*158T>C (n.*158T>C) c.798T>C (p.Ala266=) c.*1032T>C (n.*1032T>C) c.1236T>C (p.Ala412=) c.1005T>C (p.Ala335=) c.1143-1064T>C (n.1143-1064T>C) c.1248T>C (p.Ala416=) | |
9 | g.99146590T>G | CA196894233 | TGFBR1 | c.1029T>G (p.Ala343=) c.1041T>G (p.Ala347=) c.*158T>G (n.*158T>G) c.798T>G (p.Ala266=) c.*1032T>G (n.*1032T>G) c.1236T>G (p.Ala412=) c.1005T>G (p.Ala335=) c.1143-1064T>G (n.1143-1064T>G) c.1248T>G (p.Ala416=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.99146590T= | CA1867263948 | TGFBR1 | c.1029T= (p.Ala343=) c.1041T= (p.Ala347=) c.*158T= (n.*158T=) c.798T= (p.Ala266=) c.*1032T= (n.*1032T=) c.1236T= (p.Ala412=) c.1005T= (p.Ala335=) c.1143-1064T= (n.1143-1064T=) c.1248T= (p.Ala416=) | |
9 | g.99146591C>A | CA466435399 | TGFBR1 | c.1030C>A (p.Arg344=) c.1042C>A (p.Arg348=) c.*159C>A (n.*159C>A) c.799C>A (p.Arg267=) c.*1033C>A (n.*1033C>A) c.1237C>A (p.Arg413=) c.1006C>A (p.Arg336=) c.1143-1063C>A (n.1143-1063C>A) c.1249C>A (p.Arg417=) | |
9 | g.99146591C= | CA1867263956 | TGFBR1 | c.1030C= (p.Arg344=) c.1042C= (p.Arg348=) c.*159C= (n.*159C=) c.799C= (p.Arg267=) c.*1033C= (n.*1033C=) c.1237C= (p.Arg413=) c.1006C= (p.Arg336=) c.1143-1063C= (n.1143-1063C=) c.1249C= (p.Arg417=) | |
9 | g.99146591C>G | CA374233135 | TGFBR1 | c.1030C>G (p.Arg344Gly) c.1042C>G (p.Arg348Gly) c.*159C>G (n.*159C>G) c.799C>G (p.Arg267Gly) c.*1033C>G (n.*1033C>G) c.1237C>G (p.Arg413Gly) c.1006C>G (p.Arg336Gly) c.1143-1063C>G (n.1143-1063C>G) c.1249C>G (p.Arg417Gly) | ClinVar |
9 | g.99146591C>T | CA196894240 | TGFBR1 | c.1030C>T (p.Arg344Ter) c.1042C>T (p.Arg348Ter) c.*159C>T (n.*159C>T) c.799C>T (p.Arg267Ter) c.*1033C>T (n.*1033C>T) c.1237C>T (p.Arg413Ter) c.1006C>T (p.Arg336Ter) c.1143-1063C>T (n.1143-1063C>T) c.1249C>T (p.Arg417Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
9 | g.99146592G>A | CA374233137 | TGFBR1 | c.1031G>A (p.Arg344Gln) c.1043G>A (p.Arg348Gln) c.*160G>A (n.*160G>A) c.800G>A (p.Arg267Gln) c.*1034G>A (n.*1034G>A) c.1238G>A (p.Arg413Gln) c.1007G>A (p.Arg336Gln) c.1143-1062G>A (n.1143-1062G>A) c.1250G>A (p.Arg417Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.99146592G>C | CA374233139 | TGFBR1 | c.1031G>C (p.Arg344Pro) c.1043G>C (p.Arg348Pro) c.*160G>C (n.*160G>C) c.800G>C (p.Arg267Pro) c.*1034G>C (n.*1034G>C) c.1238G>C (p.Arg413Pro) c.1007G>C (p.Arg336Pro) c.1143-1062G>C (n.1143-1062G>C) c.1250G>C (p.Arg417Pro) | |
9 | g.99146592G= | CA1867263964 | TGFBR1 | c.1031G= (p.Arg344=) c.1043G= (p.Arg348=) c.*160G= (n.*160G=) c.800G= (p.Arg267=) c.*1034G= (n.*1034G=) c.1238G= (p.Arg413=) c.1007G= (p.Arg336=) c.1143-1062G= (n.1143-1062G=) c.1250G= (p.Arg417=) | |
9 | g.99146592G>T | CA374233140 | TGFBR1 | c.1031G>T (p.Arg344Leu) c.1043G>T (p.Arg348Leu) c.*160G>T (n.*160G>T) c.800G>T (p.Arg267Leu) c.*1034G>T (n.*1034G>T) c.1238G>T (p.Arg413Leu) c.1007G>T (p.Arg336Leu) c.1143-1062G>T (n.1143-1062G>T) c.1250G>T (p.Arg417Leu) | |
9 | g.99146593A>C | CA466435402 | TGFBR1 | c.1032A>C (p.Arg344=) c.1044A>C (p.Arg348=) c.*161A>C (n.*161A>C) c.801A>C (p.Arg267=) c.*1035A>C (n.*1035A>C) c.1239A>C (p.Arg413=) c.1008A>C (p.Arg336=) c.1143-1061A>C (n.1143-1061A>C) c.1251A>C (p.Arg417=) | gnomAD v4 |
9 | g.99146593A>G | CA466435401 | TGFBR1 | c.1032A>G (p.Arg344=) c.1044A>G (p.Arg348=) c.*161A>G (n.*161A>G) c.801A>G (p.Arg267=) c.*1035A>G (n.*1035A>G) c.1239A>G (p.Arg413=) c.1008A>G (p.Arg336=) c.1143-1061A>G (n.1143-1061A>G) c.1251A>G (p.Arg417=) | |
9 | g.99146593A>T | CA466435400 | TGFBR1 | c.1032A>T (p.Arg344=) c.1044A>T (p.Arg348=) c.*161A>T (n.*161A>T) c.801A>T (p.Arg267=) c.*1035A>T (n.*1035A>T) c.1239A>T (p.Arg413=) c.1008A>T (p.Arg336=) c.1143-1061A>T (n.1143-1061A>T) c.1251A>T (p.Arg417=) | |
9 | g.99146594C>A | CA466435403 | TGFBR1 | c.1033C>A (p.Arg345=) c.1045C>A (p.Arg349=) c.*162C>A (n.*162C>A) c.802C>A (p.Arg268=) c.*1036C>A (n.*1036C>A) c.1240C>A (p.Arg414=) c.1009C>A (p.Arg337=) c.1143-1060C>A (n.1143-1060C>A) c.1252C>A (p.Arg418=) | |
9 | g.99146594C= | CA1867263967 | TGFBR1 | c.1033C= (p.Arg345=) c.1045C= (p.Arg349=) c.*162C= (n.*162C=) c.802C= (p.Arg268=) c.*1036C= (n.*1036C=) c.1240C= (p.Arg414=) c.1009C= (p.Arg337=) c.1143-1060C= (n.1143-1060C=) c.1252C= (p.Arg418=) | |
9 | g.99146594C>G | CA374233143 | TGFBR1 | c.1033C>G (p.Arg345Gly) c.1045C>G (p.Arg349Gly) c.*162C>G (n.*162C>G) c.802C>G (p.Arg268Gly) c.*1036C>G (n.*1036C>G) c.1240C>G (p.Arg414Gly) c.1009C>G (p.Arg337Gly) c.1143-1060C>G (n.1143-1060C>G) c.1252C>G (p.Arg418Gly) | |
9 | g.99146594C>T | CA008738 | TGFBR1 | c.1033C>T (p.Arg345Ter) c.1045C>T (p.Arg349Ter) c.*162C>T (n.*162C>T) c.802C>T (p.Arg268Ter) c.*1036C>T (n.*1036C>T) c.1240C>T (p.Arg414Ter) c.1009C>T (p.Arg337Ter) c.1143-1060C>T (n.1143-1060C>T) c.1252C>T (p.Arg418Ter) | ClinVar dbSNP gnomAD v4 |