UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.99142505G>A | CA2690965996 | TGFBR1 | c.599-31G>A (n.599-31G>A) c.611-31G>A (n.611-31G>A) c.380-31G>A (n.380-31G>A) c.368-31G>A (n.368-31G>A) c.*602-31G>A (n.*602-31G>A) c.806-31G>A (n.806-31G>A) c.575-31G>A (n.575-31G>A) c.818-31G>A (n.818-31G>A) | gnomAD v4 |
| 9 | g.99142505_99142506delinsGC | CA1867259937 | TGFBR1 | c.599-31_599-30delinsGC (n.599-31_599-30delinsGC) c.611-31_611-30delinsGC (n.611-31_611-30delinsGC) c.380-31_380-30delinsGC (n.380-31_380-30delinsGC) c.368-31_368-30delinsGC (n.368-31_368-30delinsGC) c.*602-31_*602-30delinsGC (n.*602-31_*602-30delinsGC) c.806-31_806-30delinsGC (n.806-31_806-30delinsGC) c.575-31_575-30delinsGC (n.575-31_575-30delinsGC) c.818-31_818-30delinsGC (n.818-31_818-30delinsGC) | |
| 9 | g.99142506C= | CA1867259939 | TGFBR1 | c.599-30C= (n.599-30C=) c.611-30C= (n.611-30C=) c.380-30C= (n.380-30C=) c.368-30C= (n.368-30C=) c.*602-30C= (n.*602-30C=) c.806-30C= (n.806-30C=) c.575-30C= (n.575-30C=) c.818-30C= (n.818-30C=) | |
| 9 | g.99142506C>G | CA589361876 | TGFBR1 | c.599-30C>G (n.599-30C>G) c.611-30C>G (n.611-30C>G) c.380-30C>G (n.380-30C>G) c.368-30C>G (n.368-30C>G) c.*602-30C>G (n.*602-30C>G) c.806-30C>G (n.806-30C>G) c.575-30C>G (n.575-30C>G) c.818-30C>G (n.818-30C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.99142506C>T | CA043097 | TGFBR1 | c.599-30C>T (n.599-30C>T) c.611-30C>T (n.611-30C>T) c.380-30C>T (n.380-30C>T) c.368-30C>T (n.368-30C>T) c.*602-30C>T (n.*602-30C>T) c.806-30C>T (n.806-30C>T) c.575-30C>T (n.575-30C>T) c.818-30C>T (n.818-30C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99142508dup | CA2579400658 | TGFBR1 | c.599-28dup (n.599-28dup) c.611-28dup (n.611-28dup) c.380-28dup (n.380-28dup) c.368-28dup (n.368-28dup) c.*602-28dup (n.*602-28dup) c.806-28dup (n.806-28dup) c.575-28dup (n.575-28dup) c.818-28dup (n.818-28dup) | |
| 9 | g.99142508del | CA1867259938 | TGFBR1 | c.599-28del (n.599-28del) c.611-28del (n.611-28del) c.380-28del (n.380-28del) c.368-28del (n.368-28del) c.*602-28del (n.*602-28del) c.806-28del (n.806-28del) c.575-28del (n.575-28del) c.818-28del (n.818-28del) | dbSNP |
| 9 | g.99142507C>T | CA2690965997 | TGFBR1 | c.599-29C>T (n.599-29C>T) c.611-29C>T (n.611-29C>T) c.380-29C>T (n.380-29C>T) c.368-29C>T (n.368-29C>T) c.*602-29C>T (n.*602-29C>T) c.806-29C>T (n.806-29C>T) c.575-29C>T (n.575-29C>T) c.818-29C>T (n.818-29C>T) | gnomAD v4 |
| 9 | g.99142510A= | CA1867259940 | TGFBR1 | c.599-26A= (n.599-26A=) c.611-26A= (n.611-26A=) c.380-26A= (n.380-26A=) c.368-26A= (n.368-26A=) c.*602-26A= (n.*602-26A=) c.806-26A= (n.806-26A=) c.575-26A= (n.575-26A=) c.818-26A= (n.818-26A=) | |
| 9 | g.99142510A>G | CA1127252131 | TGFBR1 | c.599-26A>G (n.599-26A>G) c.611-26A>G (n.611-26A>G) c.380-26A>G (n.380-26A>G) c.368-26A>G (n.368-26A>G) c.*602-26A>G (n.*602-26A>G) c.806-26A>G (n.806-26A>G) c.575-26A>G (n.575-26A>G) c.818-26A>G (n.818-26A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99142511C>A | CA2690965998 | TGFBR1 | c.599-25C>A (n.599-25C>A) c.611-25C>A (n.611-25C>A) c.380-25C>A (n.380-25C>A) c.368-25C>A (n.368-25C>A) c.*602-25C>A (n.*602-25C>A) c.806-25C>A (n.806-25C>A) c.575-25C>A (n.575-25C>A) c.818-25C>A (n.818-25C>A) | gnomAD v4 |
| 9 | g.99142512C>A | CA2690965999 | TGFBR1 | c.599-24C>A (n.599-24C>A) c.611-24C>A (n.611-24C>A) c.380-24C>A (n.380-24C>A) c.368-24C>A (n.368-24C>A) c.*602-24C>A (n.*602-24C>A) c.806-24C>A (n.806-24C>A) c.575-24C>A (n.575-24C>A) c.818-24C>A (n.818-24C>A) | gnomAD v4 |
| 9 | g.99142512C= | CA1867259941 | TGFBR1 | c.599-24C= (n.599-24C=) c.611-24C= (n.611-24C=) c.380-24C= (n.380-24C=) c.368-24C= (n.368-24C=) c.*602-24C= (n.*602-24C=) c.806-24C= (n.806-24C=) c.575-24C= (n.575-24C=) c.818-24C= (n.818-24C=) | |
| 9 | g.99142512C>T | CA043086 | TGFBR1 | c.599-24C>T (n.599-24C>T) c.611-24C>T (n.611-24C>T) c.380-24C>T (n.380-24C>T) c.368-24C>T (n.368-24C>T) c.*602-24C>T (n.*602-24C>T) c.806-24C>T (n.806-24C>T) c.575-24C>T (n.575-24C>T) c.818-24C>T (n.818-24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99142513G>A | CA043075 | TGFBR1 | c.599-23G>A (n.599-23G>A) c.611-23G>A (n.611-23G>A) c.380-23G>A (n.380-23G>A) c.368-23G>A (n.368-23G>A) c.*602-23G>A (n.*602-23G>A) c.806-23G>A (n.806-23G>A) c.575-23G>A (n.575-23G>A) c.818-23G>A (n.818-23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99142513G>C | CA2720050512 | TGFBR1 | c.599-23G>C (n.599-23G>C) c.611-23G>C (n.611-23G>C) c.380-23G>C (n.380-23G>C) c.368-23G>C (n.368-23G>C) c.*602-23G>C (n.*602-23G>C) c.806-23G>C (n.806-23G>C) c.575-23G>C (n.575-23G>C) c.818-23G>C (n.818-23G>C) | dbSNP |
| 9 | g.99142513G= | CA1867259942 | TGFBR1 | c.599-23G= (n.599-23G=) c.611-23G= (n.611-23G=) c.380-23G= (n.380-23G=) c.368-23G= (n.368-23G=) c.*602-23G= (n.*602-23G=) c.806-23G= (n.806-23G=) c.575-23G= (n.575-23G=) c.818-23G= (n.818-23G=) | |
| 9 | g.99142514A>T | CA2579400659 | TGFBR1 | c.599-22A>T (n.599-22A>T) c.611-22A>T (n.611-22A>T) c.380-22A>T (n.380-22A>T) c.368-22A>T (n.368-22A>T) c.*602-22A>T (n.*602-22A>T) c.806-22A>T (n.806-22A>T) c.575-22A>T (n.575-22A>T) c.818-22A>T (n.818-22A>T) | |
| 9 | g.99142516dup | CA196891468 | TGFBR1 | c.599-20dup (n.599-20dup) c.611-20dup (n.611-20dup) c.380-20dup (n.380-20dup) c.368-20dup (n.368-20dup) c.*602-20dup (n.*602-20dup) c.806-20dup (n.806-20dup) c.575-20dup (n.575-20dup) c.818-20dup (n.818-20dup) | dbSNP |
| 9 | g.99142515A>T | CA2690966000 | TGFBR1 | c.599-21A>T (n.599-21A>T) c.611-21A>T (n.611-21A>T) c.380-21A>T (n.380-21A>T) c.368-21A>T (n.368-21A>T) c.*602-21A>T (n.*602-21A>T) c.806-21A>T (n.806-21A>T) c.575-21A>T (n.575-21A>T) c.818-21A>T (n.818-21A>T) | gnomAD v4 |
| 9 | g.99142517T>C | CA2690966001 | TGFBR1 | c.599-19T>C (n.599-19T>C) c.611-19T>C (n.611-19T>C) c.380-19T>C (n.380-19T>C) c.368-19T>C (n.368-19T>C) c.*602-19T>C (n.*602-19T>C) c.806-19T>C (n.806-19T>C) c.575-19T>C (n.575-19T>C) c.818-19T>C (n.818-19T>C) | gnomAD v4 |
| 9 | g.99142521_99142529del | CA2499220110 | TGFBR1 | c.599-15_599-7del (n.599-15_599-7del) c.611-15_611-7del (n.611-15_611-7del) c.380-15_380-7del (n.380-15_380-7del) c.368-15_368-7del (n.368-15_368-7del) c.*602-15_*602-7del (n.*602-15_*602-7del) c.806-15_806-7del (n.806-15_806-7del) c.575-15_575-7del (n.575-15_575-7del) c.818-15_818-7del (n.818-15_818-7del) | ClinVar dbSNP |
| 9 | g.99142518G>A | CA2690966002 | TGFBR1 | c.599-18G>A (n.599-18G>A) c.611-18G>A (n.611-18G>A) c.380-18G>A (n.380-18G>A) c.368-18G>A (n.368-18G>A) c.*602-18G>A (n.*602-18G>A) c.806-18G>A (n.806-18G>A) c.575-18G>A (n.575-18G>A) c.818-18G>A (n.818-18G>A) | gnomAD v4 |
| 9 | g.99142520T>G | CA043062 | TGFBR1 | c.599-16T>G (n.599-16T>G) c.611-16T>G (n.611-16T>G) c.380-16T>G (n.380-16T>G) c.368-16T>G (n.368-16T>G) c.*602-16T>G (n.*602-16T>G) c.806-16T>G (n.806-16T>G) c.575-16T>G (n.575-16T>G) c.818-16T>G (n.818-16T>G) | dbSNP ExAC gnomAD v2 |
| 9 | g.99142520T= | CA1867259943 | TGFBR1 | c.599-16T= (n.599-16T=) c.611-16T= (n.611-16T=) c.380-16T= (n.380-16T=) c.368-16T= (n.368-16T=) c.*602-16T= (n.*602-16T=) c.806-16T= (n.806-16T=) c.575-16T= (n.575-16T=) c.818-16T= (n.818-16T=) | |
| 9 | g.99142522A= | CA1867259944 | TGFBR1 | c.599-14A= (n.599-14A=) c.611-14A= (n.611-14A=) c.380-14A= (n.380-14A=) c.368-14A= (n.368-14A=) c.*602-14A= (n.*602-14A=) c.806-14A= (n.806-14A=) c.575-14A= (n.575-14A=) c.818-14A= (n.818-14A=) | |
| 9 | g.99142522A>G | CA589361877 | TGFBR1 | c.599-14A>G (n.599-14A>G) c.611-14A>G (n.611-14A>G) c.380-14A>G (n.380-14A>G) c.368-14A>G (n.368-14A>G) c.*602-14A>G (n.*602-14A>G) c.806-14A>G (n.806-14A>G) c.575-14A>G (n.575-14A>G) c.818-14A>G (n.818-14A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99142523T>C | CA2690966003 | TGFBR1 | c.599-13T>C (n.599-13T>C) c.611-13T>C (n.611-13T>C) c.380-13T>C (n.380-13T>C) c.368-13T>C (n.368-13T>C) c.*602-13T>C (n.*602-13T>C) c.806-13T>C (n.806-13T>C) c.575-13T>C (n.575-13T>C) c.818-13T>C (n.818-13T>C) | gnomAD v4 |
| 9 | g.99142523_99142525delinsTTC | CA1867259946 | TGFBR1 | c.599-13_599-11delinsTTC (n.599-13_599-11delinsTTC) c.611-13_611-11delinsTTC (n.611-13_611-11delinsTTC) c.380-13_380-11delinsTTC (n.380-13_380-11delinsTTC) c.368-13_368-11delinsTTC (n.368-13_368-11delinsTTC) c.*602-13_*602-11delinsTTC (n.*602-13_*602-11delinsTTC) c.806-13_806-11delinsTTC (n.806-13_806-11delinsTTC) c.575-13_575-11delinsTTC (n.575-13_575-11delinsTTC) c.818-13_818-11delinsTTC (n.818-13_818-11delinsTTC) | |
| 9 | g.99142525_99142526del | CA1127252133 | TGFBR1 | c.599-11_599-10del (n.599-11_599-10del) c.611-11_611-10del (n.611-11_611-10del) c.380-11_380-10del (n.380-11_380-10del) c.368-11_368-10del (n.368-11_368-10del) c.*602-11_*602-10del (n.*602-11_*602-10del) c.806-11_806-10del (n.806-11_806-10del) c.575-11_575-10del (n.575-11_575-10del) c.818-11_818-10del (n.818-11_818-10del) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99142525C= | CA1867259947 | TGFBR1 | c.599-11C= (n.599-11C=) c.611-11C= (n.611-11C=) c.380-11C= (n.380-11C=) c.368-11C= (n.368-11C=) c.*602-11C= (n.*602-11C=) c.806-11C= (n.806-11C=) c.575-11C= (n.575-11C=) c.818-11C= (n.818-11C=) | |
| 9 | g.99142525C>T | CA043052 | TGFBR1 | c.599-11C>T (n.599-11C>T) c.611-11C>T (n.611-11C>T) c.380-11C>T (n.380-11C>T) c.368-11C>T (n.368-11C>T) c.*602-11C>T (n.*602-11C>T) c.806-11C>T (n.806-11C>T) c.575-11C>T (n.575-11C>T) c.818-11C>T (n.818-11C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.99142526T>C | CA2690966004 | TGFBR1 | c.599-10T>C (n.599-10T>C) c.611-10T>C (n.611-10T>C) c.380-10T>C (n.380-10T>C) c.368-10T>C (n.368-10T>C) c.*602-10T>C (n.*602-10T>C) c.806-10T>C (n.806-10T>C) c.575-10T>C (n.575-10T>C) c.818-10T>C (n.818-10T>C) | gnomAD v4 |
| 9 | g.99142531del | CA2690966005 | TGFBR1 | c.599-5del (n.599-5del) c.611-5del (n.611-5del) c.380-5del (n.380-5del) c.368-5del (n.368-5del) c.*602-5del (n.*602-5del) c.806-5del (n.806-5del) c.575-5del (n.575-5del) c.818-5del (n.818-5del) | gnomAD v4 |
| 9 | g.99142529T>C | CA2579400660 | TGFBR1 | c.599-7T>C (n.599-7T>C) c.611-7T>C (n.611-7T>C) c.380-7T>C (n.380-7T>C) c.368-7T>C (n.368-7T>C) c.*602-7T>C (n.*602-7T>C) c.806-7T>C (n.806-7T>C) c.575-7T>C (n.575-7T>C) c.818-7T>C (n.818-7T>C) | |
| 9 | g.99142532A>G | CA2690966006 | TGFBR1 | c.599-4A>G (n.599-4A>G) c.611-4A>G (n.611-4A>G) c.380-4A>G (n.380-4A>G) c.368-4A>G (n.368-4A>G) c.*602-4A>G (n.*602-4A>G) c.806-4A>G (n.806-4A>G) c.575-4A>G (n.575-4A>G) c.818-4A>G (n.818-4A>G) | gnomAD v4 |
| 9 | g.99142533C>T | CA2720303338 | TGFBR1 | c.599-3C>T (n.599-3C>T) c.611-3C>T (n.611-3C>T) c.380-3C>T (n.380-3C>T) c.368-3C>T (n.368-3C>T) c.*602-3C>T (n.*602-3C>T) c.806-3C>T (n.806-3C>T) c.575-3C>T (n.575-3C>T) c.818-3C>T (n.818-3C>T) | dbSNP |
| 9 | g.99142534A= | CA1867259948 | TGFBR1 | c.599-2A= (n.599-2A=) c.611-2A= (n.611-2A=) c.380-2A= (n.380-2A=) c.368-2A= (n.368-2A=) c.*602-2A= (n.*602-2A=) c.806-2A= (n.806-2A=) c.575-2A= (n.575-2A=) c.818-2A= (n.818-2A=) | |
| 9 | g.99142534A>C | CA008874 | TGFBR1 | c.599-2A>C (n.599-2A>C) c.611-2A>C (n.611-2A>C) c.380-2A>C (n.380-2A>C) c.368-2A>C (n.368-2A>C) c.*602-2A>C (n.*602-2A>C) c.806-2A>C (n.806-2A>C) c.575-2A>C (n.575-2A>C) c.818-2A>C (n.818-2A>C) | ClinVar dbSNP |
| 9 | g.99142534A>G | CA374230478 | TGFBR1 | c.599-2A>G (n.599-2A>G) c.611-2A>G (n.611-2A>G) c.380-2A>G (n.380-2A>G) c.368-2A>G (n.368-2A>G) c.*602-2A>G (n.*602-2A>G) c.806-2A>G (n.806-2A>G) c.575-2A>G (n.575-2A>G) c.818-2A>G (n.818-2A>G) | |
| 9 | g.99142534A>T | CA374230479 | TGFBR1 | c.599-2A>T (n.599-2A>T) c.611-2A>T (n.611-2A>T) c.380-2A>T (n.380-2A>T) c.368-2A>T (n.368-2A>T) c.*602-2A>T (n.*602-2A>T) c.806-2A>T (n.806-2A>T) c.575-2A>T (n.575-2A>T) c.818-2A>T (n.818-2A>T) | |
| 9 | g.99142535G>A | CA374230482 | TGFBR1 | c.599-1G>A (n.599-1G>A) c.611-1G>A (n.611-1G>A) c.380-1G>A (n.380-1G>A) c.368-1G>A (n.368-1G>A) c.*602-1G>A (n.*602-1G>A) c.806-1G>A (n.806-1G>A) c.575-1G>A (n.575-1G>A) c.818-1G>A (n.818-1G>A) | |
| 9 | g.99142535G>C | CA374230481 | TGFBR1 | c.599-1G>C (n.599-1G>C) c.611-1G>C (n.611-1G>C) c.380-1G>C (n.380-1G>C) c.368-1G>C (n.368-1G>C) c.*602-1G>C (n.*602-1G>C) c.806-1G>C (n.806-1G>C) c.575-1G>C (n.575-1G>C) c.818-1G>C (n.818-1G>C) | |
| 9 | g.99142535G>T | CA374230480 | TGFBR1 | c.599-1G>T (n.599-1G>T) c.611-1G>T (n.611-1G>T) c.380-1G>T (n.380-1G>T) c.368-1G>T (n.368-1G>T) c.*602-1G>T (n.*602-1G>T) c.806-1G>T (n.806-1G>T) c.575-1G>T (n.575-1G>T) c.818-1G>T (n.818-1G>T) | |
| 9 | g.99142536A= | CA1867259950 | TGFBR1 | c.599A= (p.Asp200=) c.611A= (p.Asp204=) c.380A= (p.Asp127=) c.368A= (p.Asp123=) c.*602A= (n.*602A=) c.806A= (p.Asp269=) c.575A= (p.Asp192=) c.818A= (p.Asp273=) | |
| 9 | g.99142536A>C | CA374230483 | TGFBR1 | c.599A>C (p.Asp200Ala) c.611A>C (p.Asp204Ala) c.380A>C (p.Asp127Ala) c.368A>C (p.Asp123Ala) c.*602A>C (n.*602A>C) c.806A>C (p.Asp269Ala) c.575A>C (p.Asp192Ala) c.818A>C (p.Asp273Ala) | |
| 9 | g.99142536A>G | CA374230484 | TGFBR1 | c.599A>G (p.Asp200Gly) c.611A>G (p.Asp204Gly) c.380A>G (p.Asp127Gly) c.368A>G (p.Asp123Gly) c.*602A>G (n.*602A>G) c.806A>G (p.Asp269Gly) c.575A>G (p.Asp192Gly) c.818A>G (p.Asp273Gly) | ClinVar |
| 9 | g.99142536A>T | CA374230485 | TGFBR1 | c.599A>T (p.Asp200Val) c.611A>T (p.Asp204Val) c.380A>T (p.Asp127Val) c.368A>T (p.Asp123Val) c.*602A>T (n.*602A>T) c.806A>T (p.Asp269Val) c.575A>T (p.Asp192Val) c.818A>T (p.Asp273Val) | |
| 9 | g.99142536_99142537insAT | CA1127252136 | TGFBR1 | c.599_600insAT (p.Asp200GlufsTer25) c.611_612insAT (p.Asp204GlufsTer25) c.380_381insAT (p.Asp127GlufsTer25) c.368_369insAT (p.Asp123GlufsTer25) c.*602_*603insAT (n.*602_*603insAT) c.806_807insAT (p.Asp269GlufsTer25) c.575_576insAT (p.Asp192GlufsTer25) c.818_819insAT (p.Asp273GlufsTer25) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99142537C>A | CA374230486 | TGFBR1 | c.600C>A (p.Asp200Glu) c.612C>A (p.Asp204Glu) c.381C>A (p.Asp127Glu) c.369C>A (p.Asp123Glu) c.*603C>A (n.*603C>A) c.807C>A (p.Asp269Glu) c.576C>A (p.Asp192Glu) c.819C>A (p.Asp273Glu) | |
| 9 | g.99142537C= | CA1867259951 | TGFBR1 | c.600C= (p.Asp200=) c.612C= (p.Asp204=) c.381C= (p.Asp127=) c.369C= (p.Asp123=) c.*603C= (n.*603C=) c.807C= (p.Asp269=) c.576C= (p.Asp192=) c.819C= (p.Asp273=) | |
| 9 | g.99142537C>G | CA374230487 | TGFBR1 | c.600C>G (p.Asp200Glu) c.612C>G (p.Asp204Glu) c.381C>G (p.Asp127Glu) c.369C>G (p.Asp123Glu) c.*603C>G (n.*603C>G) c.807C>G (p.Asp269Glu) c.576C>G (p.Asp192Glu) c.819C>G (p.Asp273Glu) | |
| 9 | g.99142537C>T | CA466434390 | TGFBR1 | c.600C>T (p.Asp200=) c.612C>T (p.Asp204=) c.381C>T (p.Asp127=) c.369C>T (p.Asp123=) c.*603C>T (n.*603C>T) c.807C>T (p.Asp269=) c.576C>T (p.Asp192=) c.819C>T (p.Asp273=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99142538A>C | CA374230488 | TGFBR1 | c.601A>C (p.Asn201His) c.613A>C (p.Asn205His) c.382A>C (p.Asn128His) c.370A>C (p.Asn124His) c.*604A>C (n.*604A>C) c.808A>C (p.Asn270His) c.577A>C (p.Asn193His) c.820A>C (p.Asn274His) | |
| 9 | g.99142538A>G | CA374230489 | TGFBR1 | c.601A>G (p.Asn201Asp) c.613A>G (p.Asn205Asp) c.382A>G (p.Asn128Asp) c.370A>G (p.Asn124Asp) c.*604A>G (n.*604A>G) c.808A>G (p.Asn270Asp) c.577A>G (p.Asn193Asp) c.820A>G (p.Asn274Asp) | |
| 9 | g.99142538A>T | CA374230490 | TGFBR1 | c.601A>T (p.Asn201Tyr) c.613A>T (p.Asn205Tyr) c.382A>T (p.Asn128Tyr) c.370A>T (p.Asn124Tyr) c.*604A>T (n.*604A>T) c.808A>T (p.Asn270Tyr) c.577A>T (p.Asn193Tyr) c.820A>T (p.Asn274Tyr) | |
| 9 | g.99142539A= | CA1867259952 | TGFBR1 | c.602A= (p.Asn201=) c.614A= (p.Asn205=) c.383A= (p.Asn128=) c.371A= (p.Asn124=) c.*605A= (n.*605A=) c.809A= (p.Asn270=) c.578A= (p.Asn193=) c.821A= (p.Asn274=) | |
| 9 | g.99142539A>C | CA374230491 | TGFBR1 | c.602A>C (p.Asn201Thr) c.614A>C (p.Asn205Thr) c.383A>C (p.Asn128Thr) c.371A>C (p.Asn124Thr) c.*605A>C (n.*605A>C) c.809A>C (p.Asn270Thr) c.578A>C (p.Asn193Thr) c.821A>C (p.Asn274Thr) | |
| 9 | g.99142539A>G | CA043182 | TGFBR1 | c.602A>G (p.Asn201Ser) c.614A>G (p.Asn205Ser) c.383A>G (p.Asn128Ser) c.371A>G (p.Asn124Ser) c.*605A>G (n.*605A>G) c.809A>G (p.Asn270Ser) c.578A>G (p.Asn193Ser) c.821A>G (p.Asn274Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99142539A>T | CA374230492 | TGFBR1 | c.602A>T (p.Asn201Ile) c.614A>T (p.Asn205Ile) c.383A>T (p.Asn128Ile) c.371A>T (p.Asn124Ile) c.*605A>T (n.*605A>T) c.809A>T (p.Asn270Ile) c.578A>T (p.Asn193Ile) c.821A>T (p.Asn274Ile) | |
| 9 | g.99142539_99142540insCT | CA1127252148 | TGFBR1 | c.602_603insCT (p.Gly202LeufsTer23) c.614_615insCT (p.Gly206LeufsTer23) c.383_384insCT (p.Gly129LeufsTer23) c.371_372insCT (p.Gly125LeufsTer23) c.*605_*606insCT (n.*605_*606insCT) c.809_810insCT (p.Gly271LeufsTer23) c.578_579insCT (p.Gly194LeufsTer23) c.821_822insCT (p.Gly275LeufsTer23) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99142540T>A | CA374230494 | TGFBR1 | c.603T>A (p.Asn201Lys) c.615T>A (p.Asn205Lys) c.384T>A (p.Asn128Lys) c.372T>A (p.Asn124Lys) c.*606T>A (n.*606T>A) c.810T>A (p.Asn270Lys) c.579T>A (p.Asn193Lys) c.822T>A (p.Asn274Lys) | |
| 9 | g.99142540T>C | CA043200 | TGFBR1 | c.603T>C (p.Asn201=) c.615T>C (p.Asn205=) c.384T>C (p.Asn128=) c.372T>C (p.Asn124=) c.*606T>C (n.*606T>C) c.810T>C (p.Asn270=) c.579T>C (p.Asn193=) c.822T>C (p.Asn274=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99142540T>G | CA374230493 | TGFBR1 | c.603T>G (p.Asn201Lys) c.615T>G (p.Asn205Lys) c.384T>G (p.Asn128Lys) c.372T>G (p.Asn124Lys) c.*606T>G (n.*606T>G) c.810T>G (p.Asn270Lys) c.579T>G (p.Asn193Lys) c.822T>G (p.Asn274Lys) | |
| 9 | g.99142540T= | CA1867259954 | TGFBR1 | c.603T= (p.Asn201=) c.615T= (p.Asn205=) c.384T= (p.Asn128=) c.372T= (p.Asn124=) c.*606T= (n.*606T=) c.810T= (p.Asn270=) c.579T= (p.Asn193=) c.822T= (p.Asn274=) | |
| 9 | g.99142541G>A | CA374230495 | TGFBR1 | c.604G>A (p.Gly202Ser) c.616G>A (p.Gly206Ser) c.385G>A (p.Gly129Ser) c.373G>A (p.Gly125Ser) c.*607G>A (n.*607G>A) c.811G>A (p.Gly271Ser) c.580G>A (p.Gly194Ser) c.823G>A (p.Gly275Ser) | |
| 9 | g.99142541G>C | CA374230496 | TGFBR1 | c.604G>C (p.Gly202Arg) c.616G>C (p.Gly206Arg) c.385G>C (p.Gly129Arg) c.373G>C (p.Gly125Arg) c.*607G>C (n.*607G>C) c.811G>C (p.Gly271Arg) c.580G>C (p.Gly194Arg) c.823G>C (p.Gly275Arg) | |
| 9 | g.99142541G>T | CA374230497 | TGFBR1 | c.604G>T (p.Gly202Cys) c.616G>T (p.Gly206Cys) c.385G>T (p.Gly129Cys) c.373G>T (p.Gly125Cys) c.*607G>T (n.*607G>T) c.811G>T (p.Gly271Cys) c.580G>T (p.Gly194Cys) c.823G>T (p.Gly275Cys) | |
| 9 | g.99142542G>A | CA374230498 | TGFBR1 | c.605G>A (p.Gly202Asp) c.617G>A (p.Gly206Asp) c.386G>A (p.Gly129Asp) c.374G>A (p.Gly125Asp) c.*608G>A (n.*608G>A) c.812G>A (p.Gly271Asp) c.581G>A (p.Gly194Asp) c.824G>A (p.Gly275Asp) | gnomAD v4 |
| 9 | g.99142542G>C | CA374230499 | TGFBR1 | c.605G>C (p.Gly202Ala) c.617G>C (p.Gly206Ala) c.386G>C (p.Gly129Ala) c.374G>C (p.Gly125Ala) c.*608G>C (n.*608G>C) c.812G>C (p.Gly271Ala) c.581G>C (p.Gly194Ala) c.824G>C (p.Gly275Ala) | |
| 9 | g.99142542G>T | CA374230500 | TGFBR1 | c.605G>T (p.Gly202Val) c.617G>T (p.Gly206Val) c.386G>T (p.Gly129Val) c.374G>T (p.Gly125Val) c.*608G>T (n.*608G>T) c.812G>T (p.Gly271Val) c.581G>T (p.Gly194Val) c.824G>T (p.Gly275Val) | |
| 9 | g.99142543T>A | CA466434396 | TGFBR1 | c.606T>A (p.Gly202=) c.618T>A (p.Gly206=) c.387T>A (p.Gly129=) c.375T>A (p.Gly125=) c.*609T>A (n.*609T>A) c.813T>A (p.Gly271=) c.582T>A (p.Gly194=) c.825T>A (p.Gly275=) | |
| 9 | g.99142543T>C | CA043219 | TGFBR1 | c.606T>C (p.Gly202=) c.618T>C (p.Gly206=) c.387T>C (p.Gly129=) c.375T>C (p.Gly125=) c.*609T>C (n.*609T>C) c.813T>C (p.Gly271=) c.582T>C (p.Gly194=) c.825T>C (p.Gly275=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99142543T>G | CA466434399 | TGFBR1 | c.606T>G (p.Gly202=) c.618T>G (p.Gly206=) c.387T>G (p.Gly129=) c.375T>G (p.Gly125=) c.*609T>G (n.*609T>G) c.813T>G (p.Gly271=) c.582T>G (p.Gly194=) c.825T>G (p.Gly275=) | |
| 9 | g.99142543T= | CA1867259957 | TGFBR1 | c.606T= (p.Gly202=) c.618T= (p.Gly206=) c.387T= (p.Gly129=) c.375T= (p.Gly125=) c.*609T= (n.*609T=) c.813T= (p.Gly271=) c.582T= (p.Gly194=) c.825T= (p.Gly275=) | |
| 9 | g.99142544A>C | CA374230501 | TGFBR1 | c.607A>C (p.Thr203Pro) c.619A>C (p.Thr207Pro) c.388A>C (p.Thr130Pro) c.376A>C (p.Thr126Pro) c.*610A>C (n.*610A>C) c.814A>C (p.Thr272Pro) c.583A>C (p.Thr195Pro) c.826A>C (p.Thr276Pro) | ClinVar dbSNP |
| 9 | g.99142544A>G | CA374230502 | TGFBR1 | c.607A>G (p.Thr203Ala) c.619A>G (p.Thr207Ala) c.388A>G (p.Thr130Ala) c.376A>G (p.Thr126Ala) c.*610A>G (n.*610A>G) c.814A>G (p.Thr272Ala) c.583A>G (p.Thr195Ala) c.826A>G (p.Thr276Ala) | |
| 9 | g.99142544A>T | CA374230503 | TGFBR1 | c.607A>T (p.Thr203Ser) c.619A>T (p.Thr207Ser) c.388A>T (p.Thr130Ser) c.376A>T (p.Thr126Ser) c.*610A>T (n.*610A>T) c.814A>T (p.Thr272Ser) c.583A>T (p.Thr195Ser) c.826A>T (p.Thr276Ser) | |
| 9 | g.99142545C>A | CA374230504 | TGFBR1 | c.608C>A (p.Thr203Asn) c.620C>A (p.Thr207Asn) c.389C>A (p.Thr130Asn) c.377C>A (p.Thr126Asn) c.*611C>A (n.*611C>A) c.815C>A (p.Thr272Asn) c.584C>A (p.Thr195Asn) c.827C>A (p.Thr276Asn) | |
| 9 | g.99142545C>G | CA374230505 | TGFBR1 | c.608C>G (p.Thr203Ser) c.620C>G (p.Thr207Ser) c.389C>G (p.Thr130Ser) c.377C>G (p.Thr126Ser) c.*611C>G (n.*611C>G) c.815C>G (p.Thr272Ser) c.584C>G (p.Thr195Ser) c.827C>G (p.Thr276Ser) | |
| 9 | g.99142545C>T | CA374230506 | TGFBR1 | c.608C>T (p.Thr203Ile) c.620C>T (p.Thr207Ile) c.389C>T (p.Thr130Ile) c.377C>T (p.Thr126Ile) c.*611C>T (n.*611C>T) c.815C>T (p.Thr272Ile) c.584C>T (p.Thr195Ile) c.827C>T (p.Thr276Ile) | dbSNP |
| 9 | g.99142546T>A | CA466434401 | TGFBR1 | c.609T>A (p.Thr203=) c.621T>A (p.Thr207=) c.390T>A (p.Thr130=) c.378T>A (p.Thr126=) c.*612T>A (n.*612T>A) c.816T>A (p.Thr272=) c.585T>A (p.Thr195=) c.828T>A (p.Thr276=) | ClinVar |
| 9 | g.99142546T>C | CA466434402 | TGFBR1 | c.609T>C (p.Thr203=) c.621T>C (p.Thr207=) c.390T>C (p.Thr130=) c.378T>C (p.Thr126=) c.*612T>C (n.*612T>C) c.816T>C (p.Thr272=) c.585T>C (p.Thr195=) c.828T>C (p.Thr276=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99142546T>G | CA466434404 | TGFBR1 | c.609T>G (p.Thr203=) c.621T>G (p.Thr207=) c.390T>G (p.Thr130=) c.378T>G (p.Thr126=) c.*612T>G (n.*612T>G) c.816T>G (p.Thr272=) c.585T>G (p.Thr195=) c.828T>G (p.Thr276=) | |
| 9 | g.99142546T= | CA1867259959 | TGFBR1 | c.609T= (p.Thr203=) c.621T= (p.Thr207=) c.390T= (p.Thr130=) c.378T= (p.Thr126=) c.*612T= (n.*612T=) c.816T= (p.Thr272=) c.585T= (p.Thr195=) c.828T= (p.Thr276=) | |
| 9 | g.99142547T>A | CA374230508 | TGFBR1 | c.610T>A (p.Trp204Arg) c.622T>A (p.Trp208Arg) c.391T>A (p.Trp131Arg) c.379T>A (p.Trp127Arg) c.*613T>A (n.*613T>A) c.817T>A (p.Trp273Arg) c.586T>A (p.Trp196Arg) c.829T>A (p.Trp277Arg) | |
| 9 | g.99142547T>C | CA374230509 | TGFBR1 | c.610T>C (p.Trp204Arg) c.622T>C (p.Trp208Arg) c.391T>C (p.Trp131Arg) c.379T>C (p.Trp127Arg) c.*613T>C (n.*613T>C) c.817T>C (p.Trp273Arg) c.586T>C (p.Trp196Arg) c.829T>C (p.Trp277Arg) | |
| 9 | g.99142547T>G | CA374230507 | TGFBR1 | c.610T>G (p.Trp204Gly) c.622T>G (p.Trp208Gly) c.391T>G (p.Trp131Gly) c.379T>G (p.Trp127Gly) c.*613T>G (n.*613T>G) c.817T>G (p.Trp273Gly) c.586T>G (p.Trp196Gly) c.829T>G (p.Trp277Gly) | |
| 9 | g.99142548G>A | CA374230510 | TGFBR1 | c.611G>A (p.Trp204Ter) c.623G>A (p.Trp208Ter) c.392G>A (p.Trp131Ter) c.380G>A (p.Trp127Ter) c.*614G>A (n.*614G>A) c.818G>A (p.Trp273Ter) c.587G>A (p.Trp196Ter) c.830G>A (p.Trp277Ter) | |
| 9 | g.99142548G>C | CA374230511 | TGFBR1 | c.611G>C (p.Trp204Ser) c.623G>C (p.Trp208Ser) c.392G>C (p.Trp131Ser) c.380G>C (p.Trp127Ser) c.*614G>C (n.*614G>C) c.818G>C (p.Trp273Ser) c.587G>C (p.Trp196Ser) c.830G>C (p.Trp277Ser) | |
| 9 | g.99142548G>T | CA374230512 | TGFBR1 | c.611G>T (p.Trp204Leu) c.623G>T (p.Trp208Leu) c.392G>T (p.Trp131Leu) c.380G>T (p.Trp127Leu) c.*614G>T (n.*614G>T) c.818G>T (p.Trp273Leu) c.587G>T (p.Trp196Leu) c.830G>T (p.Trp277Leu) | |
| 9 | g.99142549G>A | CA374230513 | TGFBR1 | c.612G>A (p.Trp204Ter) c.624G>A (p.Trp208Ter) c.393G>A (p.Trp131Ter) c.381G>A (p.Trp127Ter) c.*615G>A (n.*615G>A) c.819G>A (p.Trp273Ter) c.588G>A (p.Trp196Ter) c.831G>A (p.Trp277Ter) | |
| 9 | g.99142549G>C | CA374230514 | TGFBR1 | c.612G>C (p.Trp204Cys) c.624G>C (p.Trp208Cys) c.393G>C (p.Trp131Cys) c.381G>C (p.Trp127Cys) c.*615G>C (n.*615G>C) c.819G>C (p.Trp273Cys) c.588G>C (p.Trp196Cys) c.831G>C (p.Trp277Cys) | |
| 9 | g.99142549G>T | CA374230515 | TGFBR1 | c.612G>T (p.Trp204Cys) c.624G>T (p.Trp208Cys) c.393G>T (p.Trp131Cys) c.381G>T (p.Trp127Cys) c.*615G>T (n.*615G>T) c.819G>T (p.Trp273Cys) c.588G>T (p.Trp196Cys) c.831G>T (p.Trp277Cys) | |
| 9 | g.99142550A= | CA1867259962 | TGFBR1 | c.613A= (p.Thr205=) c.625A= (p.Thr209=) c.394A= (p.Thr132=) c.382A= (p.Thr128=) c.*616A= (n.*616A=) c.820A= (p.Thr274=) c.589A= (p.Thr197=) c.832A= (p.Thr278=) | |
| 9 | g.99142550A>C | CA16612811 | TGFBR1 | c.613A>C (p.Thr205Pro) c.625A>C (p.Thr209Pro) c.394A>C (p.Thr132Pro) c.382A>C (p.Thr128Pro) c.*616A>C (n.*616A>C) c.820A>C (p.Thr274Pro) c.589A>C (p.Thr197Pro) c.832A>C (p.Thr278Pro) | ClinVar dbSNP |
| 9 | g.99142550A>G | CA323920 | TGFBR1 | c.613A>G (p.Thr205Ala) c.625A>G (p.Thr209Ala) c.394A>G (p.Thr132Ala) c.382A>G (p.Thr128Ala) c.*616A>G (n.*616A>G) c.820A>G (p.Thr274Ala) c.589A>G (p.Thr197Ala) c.832A>G (p.Thr278Ala) | ClinVar dbSNP |
| 9 | g.99142550A>T | CA374230516 | TGFBR1 | c.613A>T (p.Thr205Ser) c.625A>T (p.Thr209Ser) c.394A>T (p.Thr132Ser) c.382A>T (p.Thr128Ser) c.*616A>T (n.*616A>T) c.820A>T (p.Thr274Ser) c.589A>T (p.Thr197Ser) c.832A>T (p.Thr278Ser) | dbSNP |
| 9 | g.99142551C>A | CA374230517 | TGFBR1 | c.614C>A (p.Thr205Asn) c.626C>A (p.Thr209Asn) c.395C>A (p.Thr132Asn) c.383C>A (p.Thr128Asn) c.*617C>A (n.*617C>A) c.821C>A (p.Thr274Asn) c.590C>A (p.Thr197Asn) c.833C>A (p.Thr278Asn) | |
| 9 | g.99142551C>G | CA374230518 | TGFBR1 | c.614C>G (p.Thr205Ser) c.626C>G (p.Thr209Ser) c.395C>G (p.Thr132Ser) c.383C>G (p.Thr128Ser) c.*617C>G (n.*617C>G) c.821C>G (p.Thr274Ser) c.590C>G (p.Thr197Ser) c.833C>G (p.Thr278Ser) | COSMIC |
| 9 | g.99142551C>T | CA374230519 | TGFBR1 | c.614C>T (p.Thr205Ile) c.626C>T (p.Thr209Ile) c.395C>T (p.Thr132Ile) c.383C>T (p.Thr128Ile) c.*617C>T (n.*617C>T) c.821C>T (p.Thr274Ile) c.590C>T (p.Thr197Ile) c.833C>T (p.Thr278Ile) | |
| 9 | g.99142552T>A | CA466434408 | TGFBR1 | c.615T>A (p.Thr205=) c.627T>A (p.Thr209=) c.396T>A (p.Thr132=) c.384T>A (p.Thr128=) c.*618T>A (n.*618T>A) c.822T>A (p.Thr274=) c.591T>A (p.Thr197=) c.834T>A (p.Thr278=) | |
| 9 | g.99142552T>C | CA466434410 | TGFBR1 | c.615T>C (p.Thr205=) c.627T>C (p.Thr209=) c.396T>C (p.Thr132=) c.384T>C (p.Thr128=) c.*618T>C (n.*618T>C) c.822T>C (p.Thr274=) c.591T>C (p.Thr197=) c.834T>C (p.Thr278=) | gnomAD v4 |
| 9 | g.99142552T>G | CA466434409 | TGFBR1 | c.615T>G (p.Thr205=) c.627T>G (p.Thr209=) c.396T>G (p.Thr132=) c.384T>G (p.Thr128=) c.*618T>G (n.*618T>G) c.822T>G (p.Thr274=) c.591T>G (p.Thr197=) c.834T>G (p.Thr278=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.99142552T= | CA1867259970 | TGFBR1 | c.615T= (p.Thr205=) c.627T= (p.Thr209=) c.396T= (p.Thr132=) c.384T= (p.Thr128=) c.*618T= (n.*618T=) c.822T= (p.Thr274=) c.591T= (p.Thr197=) c.834T= (p.Thr278=) | |
| 9 | g.99142553C>A | CA374230520 | TGFBR1 | c.616C>A (p.Gln206Lys) c.628C>A (p.Gln210Lys) c.397C>A (p.Gln133Lys) c.385C>A (p.Gln129Lys) c.*619C>A (n.*619C>A) c.823C>A (p.Gln275Lys) c.592C>A (p.Gln198Lys) c.835C>A (p.Gln279Lys) | |
| 9 | g.99142553C>G | CA374230521 | TGFBR1 | c.616C>G (p.Gln206Glu) c.628C>G (p.Gln210Glu) c.397C>G (p.Gln133Glu) c.385C>G (p.Gln129Glu) c.*619C>G (n.*619C>G) c.823C>G (p.Gln275Glu) c.592C>G (p.Gln198Glu) c.835C>G (p.Gln279Glu) | |
| 9 | g.99142553C>T | CA374230522 | TGFBR1 | c.616C>T (p.Gln206Ter) c.628C>T (p.Gln210Ter) c.397C>T (p.Gln133Ter) c.385C>T (p.Gln129Ter) c.*619C>T (n.*619C>T) c.823C>T (p.Gln275Ter) c.592C>T (p.Gln198Ter) c.835C>T (p.Gln279Ter) | |
| 9 | g.99142554A= | CA1867259979 | TGFBR1 | c.617A= (p.Gln206=) c.629A= (p.Gln210=) c.398A= (p.Gln133=) c.386A= (p.Gln129=) c.*620A= (n.*620A=) c.824A= (p.Gln275=) c.593A= (p.Gln198=) c.836A= (p.Gln279=) | |
| 9 | g.99142554A>C | CA374230523 | TGFBR1 | c.617A>C (p.Gln206Pro) c.629A>C (p.Gln210Pro) c.398A>C (p.Gln133Pro) c.386A>C (p.Gln129Pro) c.*620A>C (n.*620A>C) c.824A>C (p.Gln275Pro) c.593A>C (p.Gln198Pro) c.836A>C (p.Gln279Pro) | |
| 9 | g.99142554A>G | CA319831 | TGFBR1 | c.617A>G (p.Gln206Arg) c.629A>G (p.Gln210Arg) c.398A>G (p.Gln133Arg) c.386A>G (p.Gln129Arg) c.*620A>G (n.*620A>G) c.824A>G (p.Gln275Arg) c.593A>G (p.Gln198Arg) c.836A>G (p.Gln279Arg) | ClinVar dbSNP |
| 9 | g.99142554A>T | CA374230524 | TGFBR1 | c.617A>T (p.Gln206Leu) c.629A>T (p.Gln210Leu) c.398A>T (p.Gln133Leu) c.386A>T (p.Gln129Leu) c.*620A>T (n.*620A>T) c.824A>T (p.Gln275Leu) c.593A>T (p.Gln198Leu) c.836A>T (p.Gln279Leu) | |
| 9 | g.99142555G>A | CA466434413 | TGFBR1 | c.618G>A (p.Gln206=) c.630G>A (p.Gln210=) c.399G>A (p.Gln133=) c.387G>A (p.Gln129=) c.*621G>A (n.*621G>A) c.825G>A (p.Gln275=) c.594G>A (p.Gln198=) c.837G>A (p.Gln279=) | |
| 9 | g.99142555G>C | CA374230525 | TGFBR1 | c.618G>C (p.Gln206His) c.630G>C (p.Gln210His) c.399G>C (p.Gln133His) c.387G>C (p.Gln129His) c.*621G>C (n.*621G>C) c.825G>C (p.Gln275His) c.594G>C (p.Gln198His) c.837G>C (p.Gln279His) | |
| 9 | g.99142555G>T | CA374230526 | TGFBR1 | c.618G>T (p.Gln206His) c.630G>T (p.Gln210His) c.399G>T (p.Gln133His) c.387G>T (p.Gln129His) c.*621G>T (n.*621G>T) c.825G>T (p.Gln275His) c.594G>T (p.Gln198His) c.837G>T (p.Gln279His) | |
| 9 | g.99142556C>A | CA374230527 | TGFBR1 | c.619C>A (p.Leu207Ile) c.631C>A (p.Leu211Ile) c.400C>A (p.Leu134Ile) c.388C>A (p.Leu130Ile) c.*622C>A (n.*622C>A) c.826C>A (p.Leu276Ile) c.595C>A (p.Leu199Ile) c.838C>A (p.Leu280Ile) | |
| 9 | g.99142556C>G | CA374230528 | TGFBR1 | c.619C>G (p.Leu207Val) c.631C>G (p.Leu211Val) c.400C>G (p.Leu134Val) c.388C>G (p.Leu130Val) c.*622C>G (n.*622C>G) c.826C>G (p.Leu276Val) c.595C>G (p.Leu199Val) c.838C>G (p.Leu280Val) | dbSNP |
| 9 | g.99142556C>T | CA374230529 | TGFBR1 | c.619C>T (p.Leu207Phe) c.631C>T (p.Leu211Phe) c.400C>T (p.Leu134Phe) c.388C>T (p.Leu130Phe) c.*622C>T (n.*622C>T) c.826C>T (p.Leu276Phe) c.595C>T (p.Leu199Phe) c.838C>T (p.Leu280Phe) | |
| 9 | g.99142557T>A | CA374230530 | TGFBR1 | c.620T>A (p.Leu207His) c.632T>A (p.Leu211His) c.401T>A (p.Leu134His) c.389T>A (p.Leu130His) c.*623T>A (n.*623T>A) c.827T>A (p.Leu276His) c.596T>A (p.Leu199His) c.839T>A (p.Leu280His) | |
| 9 | g.99142557T>C | CA374230531 | TGFBR1 | c.620T>C (p.Leu207Pro) c.632T>C (p.Leu211Pro) c.401T>C (p.Leu134Pro) c.389T>C (p.Leu130Pro) c.*623T>C (n.*623T>C) c.827T>C (p.Leu276Pro) c.596T>C (p.Leu199Pro) c.839T>C (p.Leu280Pro) | ClinVar dbSNP |
| 9 | g.99142557T>G | CA374230532 | TGFBR1 | c.620T>G (p.Leu207Arg) c.632T>G (p.Leu211Arg) c.401T>G (p.Leu134Arg) c.389T>G (p.Leu130Arg) c.*623T>G (n.*623T>G) c.827T>G (p.Leu276Arg) c.596T>G (p.Leu199Arg) c.839T>G (p.Leu280Arg) | |
| 9 | g.99142557T= | CA1867259982 | TGFBR1 | c.620T= (p.Leu207=) c.632T= (p.Leu211=) c.401T= (p.Leu134=) c.389T= (p.Leu130=) c.*623T= (n.*623T=) c.827T= (p.Leu276=) c.596T= (p.Leu199=) c.839T= (p.Leu280=) | |
| 9 | g.99142558C>A | CA466434414 | TGFBR1 | c.621C>A (p.Leu207=) c.633C>A (p.Leu211=) c.402C>A (p.Leu134=) c.390C>A (p.Leu130=) c.*624C>A (n.*624C>A) c.828C>A (p.Leu276=) c.597C>A (p.Leu199=) c.840C>A (p.Leu280=) | |
| 9 | g.99142558C= | CA1867259986 | TGFBR1 | c.621C= (p.Leu207=) c.633C= (p.Leu211=) c.402C= (p.Leu134=) c.390C= (p.Leu130=) c.*624C= (n.*624C=) c.828C= (p.Leu276=) c.597C= (p.Leu199=) c.840C= (p.Leu280=) | |
| 9 | g.99142558C>G | CA10630698 | TGFBR1 | c.621C>G (p.Leu207=) c.633C>G (p.Leu211=) c.402C>G (p.Leu134=) c.390C>G (p.Leu130=) c.*624C>G (n.*624C>G) c.828C>G (p.Leu276=) c.597C>G (p.Leu199=) c.840C>G (p.Leu280=) | ClinVar dbSNP |
| 9 | g.99142558C>T | CA466434416 | TGFBR1 | c.621C>T (p.Leu207=) c.633C>T (p.Leu211=) c.402C>T (p.Leu134=) c.390C>T (p.Leu130=) c.*624C>T (n.*624C>T) c.828C>T (p.Leu276=) c.597C>T (p.Leu199=) c.840C>T (p.Leu280=) | |
| 9 | g.99142559T>A | CA374230533 | TGFBR1 | c.622T>A (p.Trp208Arg) c.634T>A (p.Trp212Arg) c.403T>A (p.Trp135Arg) c.391T>A (p.Trp131Arg) c.*625T>A (n.*625T>A) c.829T>A (p.Trp277Arg) c.598T>A (p.Trp200Arg) c.841T>A (p.Trp281Arg) | ClinVar dbSNP |
| 9 | g.99142559T>C | CA374230534 | TGFBR1 | c.622T>C (p.Trp208Arg) c.634T>C (p.Trp212Arg) c.403T>C (p.Trp135Arg) c.391T>C (p.Trp131Arg) c.*625T>C (n.*625T>C) c.829T>C (p.Trp277Arg) c.598T>C (p.Trp200Arg) c.841T>C (p.Trp281Arg) | |
| 9 | g.99142559T>G | CA374230535 | TGFBR1 | c.622T>G (p.Trp208Gly) c.634T>G (p.Trp212Gly) c.403T>G (p.Trp135Gly) c.391T>G (p.Trp131Gly) c.*625T>G (n.*625T>G) c.829T>G (p.Trp277Gly) c.598T>G (p.Trp200Gly) c.841T>G (p.Trp281Gly) | |
| 9 | g.99142559T= | CA1867259991 | TGFBR1 | c.622T= (p.Trp208=) c.634T= (p.Trp212=) c.403T= (p.Trp135=) c.391T= (p.Trp131=) c.*625T= (n.*625T=) c.829T= (p.Trp277=) c.598T= (p.Trp200=) c.841T= (p.Trp281=) | |
| 9 | g.99142559_99142570delinsTGGTTGGTGTCA | CA1867259993 | TGFBR1 | c.622_633delinsTGGTTGGTGTCA (p.Trp208=) c.634_645delinsTGGTTGGTGTCA (p.Trp212=) c.403_414delinsTGGTTGGTGTCA (p.Trp135=) c.391_402delinsTGGTTGGTGTCA (p.Trp131=) c.*625_*636delinsTGGTTGGTGTCA (n.*625_*636delinsTGGTTGGTGTCA) c.829_840delinsTGGTTGGTGTCA (p.Trp277=) c.598_609delinsTGGTTGGTGTCA (p.Trp200=) c.841_852delinsTGGTTGGTGTCA (p.Trp281=) | |
| 9 | g.99142560G>A | CA374230536 | TGFBR1 | c.623G>A (p.Trp208Ter) c.635G>A (p.Trp212Ter) c.404G>A (p.Trp135Ter) c.392G>A (p.Trp131Ter) c.*626G>A (n.*626G>A) c.830G>A (p.Trp277Ter) c.599G>A (p.Trp200Ter) c.842G>A (p.Trp281Ter) | |
| 9 | g.99142560G>C | CA374230538 | TGFBR1 | c.623G>C (p.Trp208Ser) c.635G>C (p.Trp212Ser) c.404G>C (p.Trp135Ser) c.392G>C (p.Trp131Ser) c.*626G>C (n.*626G>C) c.830G>C (p.Trp277Ser) c.599G>C (p.Trp200Ser) c.842G>C (p.Trp281Ser) | |
| 9 | g.99142560G>T | CA374230537 | TGFBR1 | c.623G>T (p.Trp208Leu) c.635G>T (p.Trp212Leu) c.404G>T (p.Trp135Leu) c.392G>T (p.Trp131Leu) c.*626G>T (n.*626G>T) c.830G>T (p.Trp277Leu) c.599G>T (p.Trp200Leu) c.842G>T (p.Trp281Leu) | |
| 9 | g.99142561_99142571del | CA1139661071 | TGFBR1 | c.624_634del (p.Trp208Ter) c.636_646del (p.Trp212Ter) c.405_415del (p.Trp135Ter) c.393_403del (p.Trp131Ter) c.*627_*637del (n.*627_*637del) c.831_841del (p.Trp277Ter) c.600_610del (p.Trp200Ter) c.843_853del (p.Trp281Ter) | ClinVar dbSNP |
| 9 | g.99142561G>A | CA374230539 | TGFBR1 | c.624G>A (p.Trp208Ter) c.636G>A (p.Trp212Ter) c.405G>A (p.Trp135Ter) c.393G>A (p.Trp131Ter) c.*627G>A (n.*627G>A) c.831G>A (p.Trp277Ter) c.600G>A (p.Trp200Ter) c.843G>A (p.Trp281Ter) | gnomAD v4 |
| 9 | g.99142561G>C | CA374230540 | TGFBR1 | c.624G>C (p.Trp208Cys) c.636G>C (p.Trp212Cys) c.405G>C (p.Trp135Cys) c.393G>C (p.Trp131Cys) c.*627G>C (n.*627G>C) c.831G>C (p.Trp277Cys) c.600G>C (p.Trp200Cys) c.843G>C (p.Trp281Cys) | |
| 9 | g.99142561G= | CA1867259998 | TGFBR1 | c.624G= (p.Trp208=) c.636G= (p.Trp212=) c.405G= (p.Trp135=) c.393G= (p.Trp131=) c.*627G= (n.*627G=) c.831G= (p.Trp277=) c.600G= (p.Trp200=) c.843G= (p.Trp281=) | |
| 9 | g.99142561G>T | CA374230541 | TGFBR1 | c.624G>T (p.Trp208Cys) c.636G>T (p.Trp212Cys) c.405G>T (p.Trp135Cys) c.393G>T (p.Trp131Cys) c.*627G>T (n.*627G>T) c.831G>T (p.Trp277Cys) c.600G>T (p.Trp200Cys) c.843G>T (p.Trp281Cys) | |
| 9 | g.99142562T>A | CA374230542 | TGFBR1 | c.625T>A (p.Leu209Met) c.637T>A (p.Leu213Met) c.406T>A (p.Leu136Met) c.394T>A (p.Leu132Met) c.*628T>A (n.*628T>A) c.832T>A (p.Leu278Met) c.601T>A (p.Leu201Met) c.844T>A (p.Leu282Met) | |
| 9 | g.99142562T>C | CA466434419 | TGFBR1 | c.625T>C (p.Leu209=) c.637T>C (p.Leu213=) c.406T>C (p.Leu136=) c.394T>C (p.Leu132=) c.*628T>C (n.*628T>C) c.832T>C (p.Leu278=) c.601T>C (p.Leu201=) c.844T>C (p.Leu282=) | |
| 9 | g.99142562T>G | CA374230543 | TGFBR1 | c.625T>G (p.Leu209Val) c.637T>G (p.Leu213Val) c.406T>G (p.Leu136Val) c.394T>G (p.Leu132Val) c.*628T>G (n.*628T>G) c.832T>G (p.Leu278Val) c.601T>G (p.Leu201Val) c.844T>G (p.Leu282Val) | |
| 9 | g.99142563dup | CA1139661072 | TGFBR1 | c.626dup (p.Leu209PhefsTer7) c.638dup (p.Leu213PhefsTer7) c.407dup (p.Leu136PhefsTer7) c.395dup (p.Leu132PhefsTer7) c.*629dup (n.*629dup) c.833dup (p.Leu278PhefsTer7) c.602dup (p.Leu201PhefsTer7) c.845dup (p.Leu282PhefsTer7) | ClinVar dbSNP |
| 9 | g.99142563T>A | CA374230544 | TGFBR1 | c.626T>A (p.Leu209Ter) c.638T>A (p.Leu213Ter) c.407T>A (p.Leu136Ter) c.395T>A (p.Leu132Ter) c.*629T>A (n.*629T>A) c.833T>A (p.Leu278Ter) c.602T>A (p.Leu201Ter) c.845T>A (p.Leu282Ter) | |
| 9 | g.99142563T>C | CA374230545 | TGFBR1 | c.626T>C (p.Leu209Ser) c.638T>C (p.Leu213Ser) c.407T>C (p.Leu136Ser) c.395T>C (p.Leu132Ser) c.*629T>C (n.*629T>C) c.833T>C (p.Leu278Ser) c.602T>C (p.Leu201Ser) c.845T>C (p.Leu282Ser) | |
| 9 | g.99142563T>G | CA374230546 | TGFBR1 | c.626T>G (p.Leu209Trp) c.638T>G (p.Leu213Trp) c.407T>G (p.Leu136Trp) c.395T>G (p.Leu132Trp) c.*629T>G (n.*629T>G) c.833T>G (p.Leu278Trp) c.602T>G (p.Leu201Trp) c.845T>G (p.Leu282Trp) | |
| 9 | g.99142564G>A | CA466434420 | TGFBR1 | c.627G>A (p.Leu209=) c.639G>A (p.Leu213=) c.408G>A (p.Leu136=) c.396G>A (p.Leu132=) c.*630G>A (n.*630G>A) c.834G>A (p.Leu278=) c.603G>A (p.Leu201=) c.846G>A (p.Leu282=) | gnomAD v4 |
| 9 | g.99142564G>C | CA374230547 | TGFBR1 | c.627G>C (p.Leu209Phe) c.639G>C (p.Leu213Phe) c.408G>C (p.Leu136Phe) c.396G>C (p.Leu132Phe) c.*630G>C (n.*630G>C) c.834G>C (p.Leu278Phe) c.603G>C (p.Leu201Phe) c.846G>C (p.Leu282Phe) | |
| 9 | g.99142564G>T | CA374230548 | TGFBR1 | c.627G>T (p.Leu209Phe) c.639G>T (p.Leu213Phe) c.408G>T (p.Leu136Phe) c.396G>T (p.Leu132Phe) c.*630G>T (n.*630G>T) c.834G>T (p.Leu278Phe) c.603G>T (p.Leu201Phe) c.846G>T (p.Leu282Phe) | |
| 9 | g.99142565G>A | CA374230549 | TGFBR1 | c.628G>A (p.Val210Met) c.640G>A (p.Val214Met) c.409G>A (p.Val137Met) c.397G>A (p.Val133Met) c.*631G>A (n.*631G>A) c.835G>A (p.Val279Met) c.604G>A (p.Val202Met) c.847G>A (p.Val283Met) | dbSNP |
| 9 | g.99142565G>C | CA10587683 | TGFBR1 | c.628G>C (p.Val210Leu) c.640G>C (p.Val214Leu) c.409G>C (p.Val137Leu) c.397G>C (p.Val133Leu) c.*631G>C (n.*631G>C) c.835G>C (p.Val279Leu) c.604G>C (p.Val202Leu) c.847G>C (p.Val283Leu) | ClinVar dbSNP gnomAD v4 |
| 9 | g.99142565G= | CA1867260010 | TGFBR1 | c.628G= (p.Val210=) c.640G= (p.Val214=) c.409G= (p.Val137=) c.397G= (p.Val133=) c.*631G= (n.*631G=) c.835G= (p.Val279=) c.604G= (p.Val202=) c.847G= (p.Val283=) | |
| 9 | g.99142565G>T | CA374230550 | TGFBR1 | c.628G>T (p.Val210Leu) c.640G>T (p.Val214Leu) c.409G>T (p.Val137Leu) c.397G>T (p.Val133Leu) c.*631G>T (n.*631G>T) c.835G>T (p.Val279Leu) c.604G>T (p.Val202Leu) c.847G>T (p.Val283Leu) | |
| 9 | g.99142566T>A | CA374230553 | TGFBR1 | c.629T>A (p.Val210Glu) c.641T>A (p.Val214Glu) c.410T>A (p.Val137Glu) c.398T>A (p.Val133Glu) c.*632T>A (n.*632T>A) c.836T>A (p.Val279Glu) c.605T>A (p.Val202Glu) c.848T>A (p.Val283Glu) | |
| 9 | g.99142566T>C | CA374230551 | TGFBR1 | c.629T>C (p.Val210Ala) c.641T>C (p.Val214Ala) c.410T>C (p.Val137Ala) c.398T>C (p.Val133Ala) c.*632T>C (n.*632T>C) c.836T>C (p.Val279Ala) c.605T>C (p.Val202Ala) c.848T>C (p.Val283Ala) | ClinVar |
| 9 | g.99142566T>G | CA374230552 | TGFBR1 | c.629T>G (p.Val210Gly) c.641T>G (p.Val214Gly) c.410T>G (p.Val137Gly) c.398T>G (p.Val133Gly) c.*632T>G (n.*632T>G) c.836T>G (p.Val279Gly) c.605T>G (p.Val202Gly) c.848T>G (p.Val283Gly) | |
| 9 | g.99142567G>A | CA466434422 | TGFBR1 | c.630G>A (p.Val210=) c.642G>A (p.Val214=) c.411G>A (p.Val137=) c.399G>A (p.Val133=) c.*633G>A (n.*633G>A) c.837G>A (p.Val279=) c.606G>A (p.Val202=) c.849G>A (p.Val283=) | dbSNP |
| 9 | g.99142567G>C | CA466434423 | TGFBR1 | c.630G>C (p.Val210=) c.642G>C (p.Val214=) c.411G>C (p.Val137=) c.399G>C (p.Val133=) c.*633G>C (n.*633G>C) c.837G>C (p.Val279=) c.606G>C (p.Val202=) c.849G>C (p.Val283=) | |
| 9 | g.99142567G>T | CA466434424 | TGFBR1 | c.630G>T (p.Val210=) c.642G>T (p.Val214=) c.411G>T (p.Val137=) c.399G>T (p.Val133=) c.*633G>T (n.*633G>T) c.837G>T (p.Val279=) c.606G>T (p.Val202=) c.849G>T (p.Val283=) | gnomAD v4 |
| 9 | g.99142568T>A | CA374230554 | TGFBR1 | c.631T>A (p.Ser211Thr) c.643T>A (p.Ser215Thr) c.412T>A (p.Ser138Thr) c.400T>A (p.Ser134Thr) c.*634T>A (n.*634T>A) c.838T>A (p.Ser280Thr) c.607T>A (p.Ser203Thr) c.850T>A (p.Ser284Thr) | |
| 9 | g.99142568T>C | CA374230555 | TGFBR1 | c.631T>C (p.Ser211Pro) c.643T>C (p.Ser215Pro) c.412T>C (p.Ser138Pro) c.400T>C (p.Ser134Pro) c.*634T>C (n.*634T>C) c.838T>C (p.Ser280Pro) c.607T>C (p.Ser203Pro) c.850T>C (p.Ser284Pro) | |
| 9 | g.99142568T>G | CA374230556 | TGFBR1 | c.631T>G (p.Ser211Ala) c.643T>G (p.Ser215Ala) c.412T>G (p.Ser138Ala) c.400T>G (p.Ser134Ala) c.*634T>G (n.*634T>G) c.838T>G (p.Ser280Ala) c.607T>G (p.Ser203Ala) c.850T>G (p.Ser284Ala) | |
| 9 | g.99142569C>A | CA374230557 | TGFBR1 | c.632C>A (p.Ser211Ter) c.644C>A (p.Ser215Ter) c.413C>A (p.Ser138Ter) c.401C>A (p.Ser134Ter) c.*635C>A (n.*635C>A) c.839C>A (p.Ser280Ter) c.608C>A (p.Ser203Ter) c.851C>A (p.Ser284Ter) | |
| 9 | g.99142569C>G | CA374230558 | TGFBR1 | c.632C>G (p.Ser211Ter) c.644C>G (p.Ser215Ter) c.413C>G (p.Ser138Ter) c.401C>G (p.Ser134Ter) c.*635C>G (n.*635C>G) c.839C>G (p.Ser280Ter) c.608C>G (p.Ser203Ter) c.851C>G (p.Ser284Ter) | ClinVar |
| 9 | g.99142569C>T | CA374230559 | TGFBR1 | c.632C>T (p.Ser211Leu) c.644C>T (p.Ser215Leu) c.413C>T (p.Ser138Leu) c.401C>T (p.Ser134Leu) c.*635C>T (n.*635C>T) c.839C>T (p.Ser280Leu) c.608C>T (p.Ser203Leu) c.851C>T (p.Ser284Leu) | gnomAD v4 |
| 9 | g.99142570A= | CA1867260012 | TGFBR1 | c.633A= (p.Ser211=) c.645A= (p.Ser215=) c.414A= (p.Ser138=) c.402A= (p.Ser134=) c.*636A= (n.*636A=) c.840A= (p.Ser280=) c.609A= (p.Ser203=) c.852A= (p.Ser284=) | |
| 9 | g.99142570A>C | CA466434427 | TGFBR1 | c.633A>C (p.Ser211=) c.645A>C (p.Ser215=) c.414A>C (p.Ser138=) c.402A>C (p.Ser134=) c.*636A>C (n.*636A>C) c.840A>C (p.Ser280=) c.609A>C (p.Ser203=) c.852A>C (p.Ser284=) | |
| 9 | g.99142570A>G | CA466434428 | TGFBR1 | c.633A>G (p.Ser211=) c.645A>G (p.Ser215=) c.414A>G (p.Ser138=) c.402A>G (p.Ser134=) c.*636A>G (n.*636A>G) c.840A>G (p.Ser280=) c.609A>G (p.Ser203=) c.852A>G (p.Ser284=) | dbSNP |
| 9 | g.99142570A>T | CA466434429 | TGFBR1 | c.633A>T (p.Ser211=) c.645A>T (p.Ser215=) c.414A>T (p.Ser138=) c.402A>T (p.Ser134=) c.*636A>T (n.*636A>T) c.840A>T (p.Ser280=) c.609A>T (p.Ser203=) c.852A>T (p.Ser284=) | |
| 9 | g.99142571G>A | CA374230560 | TGFBR1 | c.634G>A (p.Asp212Asn) c.646G>A (p.Asp216Asn) c.415G>A (p.Asp139Asn) c.403G>A (p.Asp135Asn) c.*637G>A (n.*637G>A) c.841G>A (p.Asp281Asn) c.610G>A (p.Asp204Asn) c.853G>A (p.Asp285Asn) | dbSNP |
| 9 | g.99142571G>C | CA374230561 | TGFBR1 | c.634G>C (p.Asp212His) c.646G>C (p.Asp216His) c.415G>C (p.Asp139His) c.403G>C (p.Asp135His) c.*637G>C (n.*637G>C) c.841G>C (p.Asp281His) c.610G>C (p.Asp204His) c.853G>C (p.Asp285His) | |
| 9 | g.99142571G>T | CA374230562 | TGFBR1 | c.634G>T (p.Asp212Tyr) c.646G>T (p.Asp216Tyr) c.415G>T (p.Asp139Tyr) c.403G>T (p.Asp135Tyr) c.*637G>T (n.*637G>T) c.841G>T (p.Asp281Tyr) c.610G>T (p.Asp204Tyr) c.853G>T (p.Asp285Tyr) | |
| 9 | g.99142573_99142581del | CA2739264890 | TGFBR1 | c.636_644del (p.Asp212_His214del) c.648_656del (p.Asp216_His218del) c.417_425del (p.Asp139_His141del) c.405_413del (p.Asp135_His137del) c.*639_*647del (n.*639_*647del) c.843_851del (p.Asp281_His283del) c.612_620del (p.Asp204_His206del) c.855_863del (p.Asp285_His287del) | ClinVar |
| 9 | g.99142572A= | CA1867260018 | TGFBR1 | c.635A= (p.Asp212=) c.647A= (p.Asp216=) c.416A= (p.Asp139=) c.404A= (p.Asp135=) c.*638A= (n.*638A=) c.842A= (p.Asp281=) c.611A= (p.Asp204=) c.854A= (p.Asp285=) | |
| 9 | g.99142572A>C | CA374230563 | TGFBR1 | c.635A>C (p.Asp212Ala) c.647A>C (p.Asp216Ala) c.416A>C (p.Asp139Ala) c.404A>C (p.Asp135Ala) c.*638A>C (n.*638A>C) c.842A>C (p.Asp281Ala) c.611A>C (p.Asp204Ala) c.854A>C (p.Asp285Ala) | ClinVar dbSNP |
| 9 | g.99142572A>G | CA374230564 | TGFBR1 | c.635A>G (p.Asp212Gly) c.647A>G (p.Asp216Gly) c.416A>G (p.Asp139Gly) c.404A>G (p.Asp135Gly) c.*638A>G (n.*638A>G) c.842A>G (p.Asp281Gly) c.611A>G (p.Asp204Gly) c.854A>G (p.Asp285Gly) | |
| 9 | g.99142572A>T | CA374230565 | TGFBR1 | c.635A>T (p.Asp212Val) c.647A>T (p.Asp216Val) c.416A>T (p.Asp139Val) c.404A>T (p.Asp135Val) c.*638A>T (n.*638A>T) c.842A>T (p.Asp281Val) c.611A>T (p.Asp204Val) c.854A>T (p.Asp285Val) | |
| 9 | g.99142573T>A | CA374230566 | TGFBR1 | c.636T>A (p.Asp212Glu) c.648T>A (p.Asp216Glu) c.417T>A (p.Asp139Glu) c.405T>A (p.Asp135Glu) c.*639T>A (n.*639T>A) c.843T>A (p.Asp281Glu) c.612T>A (p.Asp204Glu) c.855T>A (p.Asp285Glu) | |
| 9 | g.99142573T>C | CA466434430 | TGFBR1 | c.636T>C (p.Asp212=) c.648T>C (p.Asp216=) c.417T>C (p.Asp139=) c.405T>C (p.Asp135=) c.*639T>C (n.*639T>C) c.843T>C (p.Asp281=) c.612T>C (p.Asp204=) c.855T>C (p.Asp285=) | |
| 9 | g.99142573T>G | CA374230567 | TGFBR1 | c.636T>G (p.Asp212Glu) c.648T>G (p.Asp216Glu) c.417T>G (p.Asp139Glu) c.405T>G (p.Asp135Glu) c.*639T>G (n.*639T>G) c.843T>G (p.Asp281Glu) c.612T>G (p.Asp204Glu) c.855T>G (p.Asp285Glu) | |
| 9 | g.99142574T>A | CA374230568 | TGFBR1 | c.637T>A (p.Tyr213Asn) c.649T>A (p.Tyr217Asn) c.418T>A (p.Tyr140Asn) c.406T>A (p.Tyr136Asn) c.*640T>A (n.*640T>A) c.844T>A (p.Tyr282Asn) c.613T>A (p.Tyr205Asn) c.856T>A (p.Tyr286Asn) | |
| 9 | g.99142574T>C | CA043241 | TGFBR1 | c.637T>C (p.Tyr213His) c.649T>C (p.Tyr217His) c.418T>C (p.Tyr140His) c.406T>C (p.Tyr136His) c.*640T>C (n.*640T>C) c.844T>C (p.Tyr282His) c.613T>C (p.Tyr205His) c.856T>C (p.Tyr286His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99142574T>G | CA374230569 | TGFBR1 | c.637T>G (p.Tyr213Asp) c.649T>G (p.Tyr217Asp) c.418T>G (p.Tyr140Asp) c.406T>G (p.Tyr136Asp) c.*640T>G (n.*640T>G) c.844T>G (p.Tyr282Asp) c.613T>G (p.Tyr205Asp) c.856T>G (p.Tyr286Asp) | ClinVar dbSNP COSMIC |
| 9 | g.99142574T= | CA1867260025 | TGFBR1 | c.637T= (p.Tyr213=) c.649T= (p.Tyr217=) c.418T= (p.Tyr140=) c.406T= (p.Tyr136=) c.*640T= (n.*640T=) c.844T= (p.Tyr282=) c.613T= (p.Tyr205=) c.856T= (p.Tyr286=) | |
| 9 | g.99142574_99142577delinsTATC | CA1867260028 | TGFBR1 | c.637_640delinsTATC (p.Tyr213=) c.649_652delinsTATC (p.Tyr217=) c.418_421delinsTATC (p.Tyr140=) c.406_409delinsTATC (p.Tyr136=) c.*640_*643delinsTATC (n.*640_*643delinsTATC) c.844_847delinsTATC (p.Tyr282=) c.613_616delinsTATC (p.Tyr205=) c.856_859delinsTATC (p.Tyr286=) | |
| 9 | g.99142575A>C | CA374230570 | TGFBR1 | c.638A>C (p.Tyr213Ser) c.650A>C (p.Tyr217Ser) c.419A>C (p.Tyr140Ser) c.407A>C (p.Tyr136Ser) c.*641A>C (n.*641A>C) c.845A>C (p.Tyr282Ser) c.614A>C (p.Tyr205Ser) c.857A>C (p.Tyr286Ser) | |
| 9 | g.99142575A>G | CA374230572 | TGFBR1 | c.638A>G (p.Tyr213Cys) c.650A>G (p.Tyr217Cys) c.419A>G (p.Tyr140Cys) c.407A>G (p.Tyr136Cys) c.*641A>G (n.*641A>G) c.845A>G (p.Tyr282Cys) c.614A>G (p.Tyr205Cys) c.857A>G (p.Tyr286Cys) | |
| 9 | g.99142575A>T | CA374230571 | TGFBR1 | c.638A>T (p.Tyr213Phe) c.650A>T (p.Tyr217Phe) c.419A>T (p.Tyr140Phe) c.407A>T (p.Tyr136Phe) c.*641A>T (n.*641A>T) c.845A>T (p.Tyr282Phe) c.614A>T (p.Tyr205Phe) c.857A>T (p.Tyr286Phe) | |
| 9 | g.99142577_99142579del | CA915947111 | TGFBR1 | c.640_642del (p.His214del) c.652_654del (p.His218del) c.421_423del (p.His141del) c.409_411del (p.His137del) c.*643_*645del (n.*643_*645del) c.847_849del (p.His283del) c.616_618del (p.His206del) c.859_861del (p.His287del) | ClinVar dbSNP |
| 9 | g.99142576T>A | CA374230573 | TGFBR1 | c.639T>A (p.Tyr213Ter) c.651T>A (p.Tyr217Ter) c.420T>A (p.Tyr140Ter) c.408T>A (p.Tyr136Ter) c.*642T>A (n.*642T>A) c.846T>A (p.Tyr282Ter) c.615T>A (p.Tyr205Ter) c.858T>A (p.Tyr286Ter) | |
| 9 | g.99142576T>C | CA466434431 | TGFBR1 | c.639T>C (p.Tyr213=) c.651T>C (p.Tyr217=) c.420T>C (p.Tyr140=) c.408T>C (p.Tyr136=) c.*642T>C (n.*642T>C) c.846T>C (p.Tyr282=) c.615T>C (p.Tyr205=) c.858T>C (p.Tyr286=) | |
| 9 | g.99142576T>G | CA374230574 | TGFBR1 | c.639T>G (p.Tyr213Ter) c.651T>G (p.Tyr217Ter) c.420T>G (p.Tyr140Ter) c.408T>G (p.Tyr136Ter) c.*642T>G (n.*642T>G) c.846T>G (p.Tyr282Ter) c.615T>G (p.Tyr205Ter) c.858T>G (p.Tyr286Ter) | |
| 9 | g.99142577C>A | CA374230575 | TGFBR1 | c.640C>A (p.His214Asn) c.652C>A (p.His218Asn) c.421C>A (p.His141Asn) c.409C>A (p.His137Asn) c.*643C>A (n.*643C>A) c.847C>A (p.His283Asn) c.616C>A (p.His206Asn) c.859C>A (p.His287Asn) | dbSNP |
| 9 | g.99142577C>G | CA374230576 | TGFBR1 | c.640C>G (p.His214Asp) c.652C>G (p.His218Asp) c.421C>G (p.His141Asp) c.409C>G (p.His137Asp) c.*643C>G (n.*643C>G) c.847C>G (p.His283Asp) c.616C>G (p.His206Asp) c.859C>G (p.His287Asp) | |
| 9 | g.99142577C>T | CA374230577 | TGFBR1 | c.640C>T (p.His214Tyr) c.652C>T (p.His218Tyr) c.421C>T (p.His141Tyr) c.409C>T (p.His137Tyr) c.*643C>T (n.*643C>T) c.847C>T (p.His283Tyr) c.616C>T (p.His206Tyr) c.859C>T (p.His287Tyr) | ClinVar |
| 9 | g.99142578A= | CA1867260030 | TGFBR1 | c.641A= (p.His214=) c.653A= (p.His218=) c.422A= (p.His141=) c.410A= (p.His137=) c.*644A= (n.*644A=) c.848A= (p.His283=) c.617A= (p.His206=) c.860A= (p.His287=) | |
| 9 | g.99142578A>C | CA16618919 | TGFBR1 | c.641A>C (p.His214Pro) c.653A>C (p.His218Pro) c.422A>C (p.His141Pro) c.410A>C (p.His137Pro) c.*644A>C (n.*644A>C) c.848A>C (p.His283Pro) c.617A>C (p.His206Pro) c.860A>C (p.His287Pro) | ClinVar dbSNP |
| 9 | g.99142578A>G | CA374230578 | TGFBR1 | c.641A>G (p.His214Arg) c.653A>G (p.His218Arg) c.422A>G (p.His141Arg) c.410A>G (p.His137Arg) c.*644A>G (n.*644A>G) c.848A>G (p.His283Arg) c.617A>G (p.His206Arg) c.860A>G (p.His287Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
| 9 | g.99142578A>T | CA374230579 | TGFBR1 | c.641A>T (p.His214Leu) c.653A>T (p.His218Leu) c.422A>T (p.His141Leu) c.410A>T (p.His137Leu) c.*644A>T (n.*644A>T) c.848A>T (p.His283Leu) c.617A>T (p.His206Leu) c.860A>T (p.His287Leu) | |
| 9 | g.99142579T>A | CA374230580 | TGFBR1 | c.642T>A (p.His214Gln) c.654T>A (p.His218Gln) c.423T>A (p.His141Gln) c.411T>A (p.His137Gln) c.*645T>A (n.*645T>A) c.849T>A (p.His283Gln) c.618T>A (p.His206Gln) c.861T>A (p.His287Gln) | |
| 9 | g.99142579T>C | CA196891535 | TGFBR1 | c.642T>C (p.His214=) c.654T>C (p.His218=) c.423T>C (p.His141=) c.411T>C (p.His137=) c.*645T>C (n.*645T>C) c.849T>C (p.His283=) c.618T>C (p.His206=) c.861T>C (p.His287=) | dbSNP gnomAD v4 |
| 9 | g.99142579T>G | CA374230581 | TGFBR1 | c.642T>G (p.His214Gln) c.654T>G (p.His218Gln) c.423T>G (p.His141Gln) c.411T>G (p.His137Gln) c.*645T>G (n.*645T>G) c.849T>G (p.His283Gln) c.618T>G (p.His206Gln) c.861T>G (p.His287Gln) | |
| 9 | g.99142579T= | CA1867260033 | TGFBR1 | c.642T= (p.His214=) c.654T= (p.His218=) c.423T= (p.His141=) c.411T= (p.His137=) c.*645T= (n.*645T=) c.849T= (p.His283=) c.618T= (p.His206=) c.861T= (p.His287=) | |
| 9 | g.99142580G>A | CA374230582 | TGFBR1 | c.643G>A (p.Glu215Lys) c.655G>A (p.Glu219Lys) c.424G>A (p.Glu142Lys) c.412G>A (p.Glu138Lys) c.*646G>A (n.*646G>A) c.850G>A (p.Glu284Lys) c.619G>A (p.Glu207Lys) c.862G>A (p.Glu288Lys) | dbSNP |
| 9 | g.99142580G>C | CA374230583 | TGFBR1 | c.643G>C (p.Glu215Gln) c.655G>C (p.Glu219Gln) c.424G>C (p.Glu142Gln) c.412G>C (p.Glu138Gln) c.*646G>C (n.*646G>C) c.850G>C (p.Glu284Gln) c.619G>C (p.Glu207Gln) c.862G>C (p.Glu288Gln) | |
| 9 | g.99142580G= | CA1867260036 | TGFBR1 | c.643G= (p.Glu215=) c.655G= (p.Glu219=) c.424G= (p.Glu142=) c.412G= (p.Glu138=) c.*646G= (n.*646G=) c.850G= (p.Glu284=) c.619G= (p.Glu207=) c.862G= (p.Glu288=) | |
| 9 | g.99142580G>T | CA374230584 | TGFBR1 | c.643G>T (p.Glu215Ter) c.655G>T (p.Glu219Ter) c.424G>T (p.Glu142Ter) c.412G>T (p.Glu138Ter) c.*646G>T (n.*646G>T) c.850G>T (p.Glu284Ter) c.619G>T (p.Glu207Ter) c.862G>T (p.Glu288Ter) | COSMIC |
| 9 | g.99142581A>C | CA374230587 | TGFBR1 | c.644A>C (p.Glu215Ala) c.656A>C (p.Glu219Ala) c.425A>C (p.Glu142Ala) c.413A>C (p.Glu138Ala) c.*647A>C (n.*647A>C) c.851A>C (p.Glu284Ala) c.620A>C (p.Glu207Ala) c.863A>C (p.Glu288Ala) | |
| 9 | g.99142581A>G | CA374230585 | TGFBR1 | c.644A>G (p.Glu215Gly) c.656A>G (p.Glu219Gly) c.425A>G (p.Glu142Gly) c.413A>G (p.Glu138Gly) c.*647A>G (n.*647A>G) c.851A>G (p.Glu284Gly) c.620A>G (p.Glu207Gly) c.863A>G (p.Glu288Gly) | |
| 9 | g.99142581A>T | CA374230586 | TGFBR1 | c.644A>T (p.Glu215Val) c.656A>T (p.Glu219Val) c.425A>T (p.Glu142Val) c.413A>T (p.Glu138Val) c.*647A>T (n.*647A>T) c.851A>T (p.Glu284Val) c.620A>T (p.Glu207Val) c.863A>T (p.Glu288Val) | |
| 9 | g.99142582G>A | CA466434433 | TGFBR1 | c.645G>A (p.Glu215=) c.657G>A (p.Glu219=) c.426G>A (p.Glu142=) c.414G>A (p.Glu138=) c.*648G>A (n.*648G>A) c.852G>A (p.Glu284=) c.621G>A (p.Glu207=) c.864G>A (p.Glu288=) | ClinVar gnomAD v4 |
| 9 | g.99142582G>C | CA374230588 | TGFBR1 | c.645G>C (p.Glu215Asp) c.657G>C (p.Glu219Asp) c.426G>C (p.Glu142Asp) c.414G>C (p.Glu138Asp) c.*648G>C (n.*648G>C) c.852G>C (p.Glu284Asp) c.621G>C (p.Glu207Asp) c.864G>C (p.Glu288Asp) | |
| 9 | g.99142582G>T | CA374230589 | TGFBR1 | c.645G>T (p.Glu215Asp) c.657G>T (p.Glu219Asp) c.426G>T (p.Glu142Asp) c.414G>T (p.Glu138Asp) c.*648G>T (n.*648G>T) c.852G>T (p.Glu284Asp) c.621G>T (p.Glu207Asp) c.864G>T (p.Glu288Asp) | |
| 9 | g.99142583C>A | CA374230590 | TGFBR1 | c.646C>A (p.His216Asn) c.658C>A (p.His220Asn) c.427C>A (p.His143Asn) c.415C>A (p.His139Asn) c.*649C>A (n.*649C>A) c.853C>A (p.His285Asn) c.622C>A (p.His208Asn) c.865C>A (p.His289Asn) | |
| 9 | g.99142583C= | CA1867260040 | TGFBR1 | c.646C= (p.His216=) c.658C= (p.His220=) c.427C= (p.His143=) c.415C= (p.His139=) c.*649C= (n.*649C=) c.853C= (p.His285=) c.622C= (p.His208=) c.865C= (p.His289=) | |
| 9 | g.99142583C>G | CA374230591 | TGFBR1 | c.646C>G (p.His216Asp) c.658C>G (p.His220Asp) c.427C>G (p.His143Asp) c.415C>G (p.His139Asp) c.*649C>G (n.*649C>G) c.853C>G (p.His285Asp) c.622C>G (p.His208Asp) c.865C>G (p.His289Asp) | |
| 9 | g.99142583C>T | CA374230592 | TGFBR1 | c.646C>T (p.His216Tyr) c.658C>T (p.His220Tyr) c.427C>T (p.His143Tyr) c.415C>T (p.His139Tyr) c.*649C>T (n.*649C>T) c.853C>T (p.His285Tyr) c.622C>T (p.His208Tyr) c.865C>T (p.His289Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.99142584A= | CA1867260045 | TGFBR1 | c.647A= (p.His216=) c.659A= (p.His220=) c.428A= (p.His143=) c.416A= (p.His139=) c.*650A= (n.*650A=) c.854A= (p.His285=) c.623A= (p.His208=) c.866A= (p.His289=) | |
| 9 | g.99142584A>C | CA374230593 | TGFBR1 | c.647A>C (p.His216Pro) c.659A>C (p.His220Pro) c.428A>C (p.His143Pro) c.416A>C (p.His139Pro) c.*650A>C (n.*650A>C) c.854A>C (p.His285Pro) c.623A>C (p.His208Pro) c.866A>C (p.His289Pro) | |
| 9 | g.99142584A>G | CA374230594 | TGFBR1 | c.647A>G (p.His216Arg) c.659A>G (p.His220Arg) c.428A>G (p.His143Arg) c.416A>G (p.His139Arg) c.*650A>G (n.*650A>G) c.854A>G (p.His285Arg) c.623A>G (p.His208Arg) c.866A>G (p.His289Arg) | ClinVar dbSNP gnomAD v4 |
| 9 | g.99142584A>T | CA374230595 | TGFBR1 | c.647A>T (p.His216Leu) c.659A>T (p.His220Leu) c.428A>T (p.His143Leu) c.416A>T (p.His139Leu) c.*650A>T (n.*650A>T) c.854A>T (p.His285Leu) c.623A>T (p.His208Leu) c.866A>T (p.His289Leu) | ClinVar dbSNP |
| 9 | g.99142585T>A | CA374230596 | TGFBR1 | c.648T>A (p.His216Gln) c.660T>A (p.His220Gln) c.429T>A (p.His143Gln) c.417T>A (p.His139Gln) c.*651T>A (n.*651T>A) c.855T>A (p.His285Gln) c.624T>A (p.His208Gln) c.867T>A (p.His289Gln) | |
| 9 | g.99142585T>C | CA466434437 | TGFBR1 | c.648T>C (p.His216=) c.660T>C (p.His220=) c.429T>C (p.His143=) c.417T>C (p.His139=) c.*651T>C (n.*651T>C) c.855T>C (p.His285=) c.624T>C (p.His208=) c.867T>C (p.His289=) | dbSNP |
| 9 | g.99142585T>G | CA374230597 | TGFBR1 | c.648T>G (p.His216Gln) c.660T>G (p.His220Gln) c.429T>G (p.His143Gln) c.417T>G (p.His139Gln) c.*651T>G (n.*651T>G) c.855T>G (p.His285Gln) c.624T>G (p.His208Gln) c.867T>G (p.His289Gln) | |
| 9 | g.99142585T= | CA1867260050 | TGFBR1 | c.648T= (p.His216=) c.660T= (p.His220=) c.429T= (p.His143=) c.417T= (p.His139=) c.*651T= (n.*651T=) c.855T= (p.His285=) c.624T= (p.His208=) c.867T= (p.His289=) | |
| 9 | g.99142586G>A | CA374230599 | TGFBR1 | c.649G>A (p.Gly217Arg) c.661G>A (p.Gly221Arg) c.430G>A (p.Gly144Arg) c.418G>A (p.Gly140Arg) c.*652G>A (n.*652G>A) c.856G>A (p.Gly286Arg) c.625G>A (p.Gly209Arg) c.868G>A (p.Gly290Arg) | COSMIC |
| 9 | g.99142586G>C | CA374230600 | TGFBR1 | c.649G>C (p.Gly217Arg) c.661G>C (p.Gly221Arg) c.430G>C (p.Gly144Arg) c.418G>C (p.Gly140Arg) c.*652G>C (n.*652G>C) c.856G>C (p.Gly286Arg) c.625G>C (p.Gly209Arg) c.868G>C (p.Gly290Arg) | |
| 9 | g.99142586G>T | CA374230598 | TGFBR1 | c.649G>T (p.Gly217Ter) c.661G>T (p.Gly221Ter) c.430G>T (p.Gly144Ter) c.418G>T (p.Gly140Ter) c.*652G>T (n.*652G>T) c.856G>T (p.Gly286Ter) c.625G>T (p.Gly209Ter) c.868G>T (p.Gly290Ter) | |
| 9 | g.99142587G>A | CA374230601 | TGFBR1 | c.650G>A (p.Gly217Glu) c.662G>A (p.Gly221Glu) c.431G>A (p.Gly144Glu) c.419G>A (p.Gly140Glu) c.*653G>A (n.*653G>A) c.857G>A (p.Gly286Glu) c.626G>A (p.Gly209Glu) c.869G>A (p.Gly290Glu) | |
| 9 | g.99142587G>C | CA374230602 | TGFBR1 | c.650G>C (p.Gly217Ala) c.662G>C (p.Gly221Ala) c.431G>C (p.Gly144Ala) c.419G>C (p.Gly140Ala) c.*653G>C (n.*653G>C) c.857G>C (p.Gly286Ala) c.626G>C (p.Gly209Ala) c.869G>C (p.Gly290Ala) | |
| 9 | g.99142587G>T | CA374230603 | TGFBR1 | c.650G>T (p.Gly217Val) c.662G>T (p.Gly221Val) c.431G>T (p.Gly144Val) c.419G>T (p.Gly140Val) c.*653G>T (n.*653G>T) c.857G>T (p.Gly286Val) c.626G>T (p.Gly209Val) c.869G>T (p.Gly290Val) | |
| 9 | g.99142588A>C | CA466434440 | TGFBR1 | c.651A>C (p.Gly217=) c.663A>C (p.Gly221=) c.432A>C (p.Gly144=) c.420A>C (p.Gly140=) c.*654A>C (n.*654A>C) c.858A>C (p.Gly286=) c.627A>C (p.Gly209=) c.870A>C (p.Gly290=) | |
| 9 | g.99142588A>G | CA466434441 | TGFBR1 | c.651A>G (p.Gly217=) c.663A>G (p.Gly221=) c.432A>G (p.Gly144=) c.420A>G (p.Gly140=) c.*654A>G (n.*654A>G) c.858A>G (p.Gly286=) c.627A>G (p.Gly209=) c.870A>G (p.Gly290=) | |
| 9 | g.99142588A>T | CA466434442 | TGFBR1 | c.651A>T (p.Gly217=) c.663A>T (p.Gly221=) c.432A>T (p.Gly144=) c.420A>T (p.Gly140=) c.*654A>T (n.*654A>T) c.858A>T (p.Gly286=) c.627A>T (p.Gly209=) c.870A>T (p.Gly290=) | COSMIC |
| 9 | g.99142589T>A | CA374230604 | TGFBR1 | c.652T>A (p.Ser218Thr) c.664T>A (p.Ser222Thr) c.433T>A (p.Ser145Thr) c.421T>A (p.Ser141Thr) c.*655T>A (n.*655T>A) c.859T>A (p.Ser287Thr) c.628T>A (p.Ser210Thr) c.871T>A (p.Ser291Thr) | |
| 9 | g.99142589T>C | CA374230605 | TGFBR1 | c.652T>C (p.Ser218Pro) c.664T>C (p.Ser222Pro) c.433T>C (p.Ser145Pro) c.421T>C (p.Ser141Pro) c.*655T>C (n.*655T>C) c.859T>C (p.Ser287Pro) c.628T>C (p.Ser210Pro) c.871T>C (p.Ser291Pro) | |
| 9 | g.99142589T>G | CA374230606 | TGFBR1 | c.652T>G (p.Ser218Ala) c.664T>G (p.Ser222Ala) c.433T>G (p.Ser145Ala) c.421T>G (p.Ser141Ala) c.*655T>G (n.*655T>G) c.859T>G (p.Ser287Ala) c.628T>G (p.Ser210Ala) c.871T>G (p.Ser291Ala) | |
| 9 | g.99142590C>A | CA374230607 | TGFBR1 | c.653C>A (p.Ser218Tyr) c.665C>A (p.Ser222Tyr) c.434C>A (p.Ser145Tyr) c.422C>A (p.Ser141Tyr) c.*656C>A (n.*656C>A) c.860C>A (p.Ser287Tyr) c.629C>A (p.Ser210Tyr) c.872C>A (p.Ser291Tyr) | ClinVar dbSNP |
| 9 | g.99142590C= | CA1867260057 | TGFBR1 | c.653C= (p.Ser218=) c.665C= (p.Ser222=) c.434C= (p.Ser145=) c.422C= (p.Ser141=) c.*656C= (n.*656C=) c.860C= (p.Ser287=) c.629C= (p.Ser210=) c.872C= (p.Ser291=) | |
| 9 | g.99142590C>G | CA374230608 | TGFBR1 | c.653C>G (p.Ser218Cys) c.665C>G (p.Ser222Cys) c.434C>G (p.Ser145Cys) c.422C>G (p.Ser141Cys) c.*656C>G (n.*656C>G) c.860C>G (p.Ser287Cys) c.629C>G (p.Ser210Cys) c.872C>G (p.Ser291Cys) | |
| 9 | g.99142590C>T | CA319926 | TGFBR1 | c.653C>T (p.Ser218Phe) c.665C>T (p.Ser222Phe) c.434C>T (p.Ser145Phe) c.422C>T (p.Ser141Phe) c.*656C>T (n.*656C>T) c.860C>T (p.Ser287Phe) c.629C>T (p.Ser210Phe) c.872C>T (p.Ser291Phe) | ClinVar dbSNP COSMIC |
| 9 | g.99142591C>A | CA466434444 | TGFBR1 | c.654C>A (p.Ser218=) c.666C>A (p.Ser222=) c.435C>A (p.Ser145=) c.423C>A (p.Ser141=) c.*657C>A (n.*657C>A) c.861C>A (p.Ser287=) c.630C>A (p.Ser210=) c.873C>A (p.Ser291=) | |
| 9 | g.99142591C= | CA1867260060 | TGFBR1 | c.654C= (p.Ser218=) c.666C= (p.Ser222=) c.435C= (p.Ser145=) c.423C= (p.Ser141=) c.*657C= (n.*657C=) c.861C= (p.Ser287=) c.630C= (p.Ser210=) c.873C= (p.Ser291=) | |
| 9 | g.99142591C>G | CA466434445 | TGFBR1 | c.654C>G (p.Ser218=) c.666C>G (p.Ser222=) c.435C>G (p.Ser145=) c.423C>G (p.Ser141=) c.*657C>G (n.*657C>G) c.861C>G (p.Ser287=) c.630C>G (p.Ser210=) c.873C>G (p.Ser291=) | |
| 9 | g.99142591C>T | CA196891540 | TGFBR1 | c.654C>T (p.Ser218=) c.666C>T (p.Ser222=) c.435C>T (p.Ser145=) c.423C>T (p.Ser141=) c.*657C>T (n.*657C>T) c.861C>T (p.Ser287=) c.630C>T (p.Ser210=) c.873C>T (p.Ser291=) | dbSNP |
| 9 | g.99142592C>A | CA374230609 | TGFBR1 | c.655C>A (p.Leu219Ile) c.667C>A (p.Leu223Ile) c.436C>A (p.Leu146Ile) c.424C>A (p.Leu142Ile) c.*658C>A (n.*658C>A) c.862C>A (p.Leu288Ile) c.631C>A (p.Leu211Ile) c.874C>A (p.Leu292Ile) | |
| 9 | g.99142592C= | CA1867260063 | TGFBR1 | c.655C= (p.Leu219=) c.667C= (p.Leu223=) c.436C= (p.Leu146=) c.424C= (p.Leu142=) c.*658C= (n.*658C=) c.862C= (p.Leu288=) c.631C= (p.Leu211=) c.874C= (p.Leu292=) | |
| 9 | g.99142592C>G | CA374230610 | TGFBR1 | c.655C>G (p.Leu219Val) c.667C>G (p.Leu223Val) c.436C>G (p.Leu146Val) c.424C>G (p.Leu142Val) c.*658C>G (n.*658C>G) c.862C>G (p.Leu288Val) c.631C>G (p.Leu211Val) c.874C>G (p.Leu292Val) | ClinVar |
| 9 | g.99142592C>T | CA196891545 | TGFBR1 | c.655C>T (p.Leu219Phe) c.667C>T (p.Leu223Phe) c.436C>T (p.Leu146Phe) c.424C>T (p.Leu142Phe) c.*658C>T (n.*658C>T) c.862C>T (p.Leu288Phe) c.631C>T (p.Leu211Phe) c.874C>T (p.Leu292Phe) | dbSNP |
| 9 | g.99142593T>A | CA374230611 | TGFBR1 | c.656T>A (p.Leu219His) c.668T>A (p.Leu223His) c.437T>A (p.Leu146His) c.425T>A (p.Leu142His) c.*659T>A (n.*659T>A) c.863T>A (p.Leu288His) c.632T>A (p.Leu211His) c.875T>A (p.Leu292His) | gnomAD v4 |
| 9 | g.99142593T>C | CA374230613 | TGFBR1 | c.656T>C (p.Leu219Pro) c.668T>C (p.Leu223Pro) c.437T>C (p.Leu146Pro) c.425T>C (p.Leu142Pro) c.*659T>C (n.*659T>C) c.863T>C (p.Leu288Pro) c.632T>C (p.Leu211Pro) c.875T>C (p.Leu292Pro) | dbSNP |
| 9 | g.99142593T>G | CA374230612 | TGFBR1 | c.656T>G (p.Leu219Arg) c.668T>G (p.Leu223Arg) c.437T>G (p.Leu146Arg) c.425T>G (p.Leu142Arg) c.*659T>G (n.*659T>G) c.863T>G (p.Leu288Arg) c.632T>G (p.Leu211Arg) c.875T>G (p.Leu292Arg) | |
| 9 | g.99142597del | CA2720303662 | TGFBR1 | c.660del (p.Phe220LeufsTer4) c.672del (p.Phe224LeufsTer4) c.441del (p.Phe147LeufsTer4) c.429del (p.Phe143LeufsTer4) c.*663del (n.*663del) c.867del (p.Phe289LeufsTer4) c.636del (p.Phe212LeufsTer4) c.879del (p.Phe293LeufsTer4) | dbSNP |
| 9 | g.99142594T>A | CA466434446 | TGFBR1 | c.657T>A (p.Leu219=) c.669T>A (p.Leu223=) c.438T>A (p.Leu146=) c.426T>A (p.Leu142=) c.*660T>A (n.*660T>A) c.864T>A (p.Leu288=) c.633T>A (p.Leu211=) c.876T>A (p.Leu292=) | |
| 9 | g.99142594T>C | CA466434447 | TGFBR1 | c.657T>C (p.Leu219=) c.669T>C (p.Leu223=) c.438T>C (p.Leu146=) c.426T>C (p.Leu142=) c.*660T>C (n.*660T>C) c.864T>C (p.Leu288=) c.633T>C (p.Leu211=) c.876T>C (p.Leu292=) | |
| 9 | g.99142594T>G | CA466434449 | TGFBR1 | c.657T>G (p.Leu219=) c.669T>G (p.Leu223=) c.438T>G (p.Leu146=) c.426T>G (p.Leu142=) c.*660T>G (n.*660T>G) c.864T>G (p.Leu288=) c.633T>G (p.Leu211=) c.876T>G (p.Leu292=) | |
| 9 | g.99142595T>A | CA374230614 | TGFBR1 | c.658T>A (p.Phe220Ile) c.670T>A (p.Phe224Ile) c.439T>A (p.Phe147Ile) c.427T>A (p.Phe143Ile) c.*661T>A (n.*661T>A) c.865T>A (p.Phe289Ile) c.634T>A (p.Phe212Ile) c.877T>A (p.Phe293Ile) | |
| 9 | g.99142595T>C | CA374230615 | TGFBR1 | c.658T>C (p.Phe220Leu) c.670T>C (p.Phe224Leu) c.439T>C (p.Phe147Leu) c.427T>C (p.Phe143Leu) c.*661T>C (n.*661T>C) c.865T>C (p.Phe289Leu) c.634T>C (p.Phe212Leu) c.877T>C (p.Phe293Leu) | |
| 9 | g.99142595T>G | CA374230616 | TGFBR1 | c.658T>G (p.Phe220Val) c.670T>G (p.Phe224Val) c.439T>G (p.Phe147Val) c.427T>G (p.Phe143Val) c.*661T>G (n.*661T>G) c.865T>G (p.Phe289Val) c.634T>G (p.Phe212Val) c.877T>G (p.Phe293Val) | |
| 9 | g.99142596T>A | CA374230617 | TGFBR1 | c.659T>A (p.Phe220Tyr) c.671T>A (p.Phe224Tyr) c.440T>A (p.Phe147Tyr) c.428T>A (p.Phe143Tyr) c.*662T>A (n.*662T>A) c.866T>A (p.Phe289Tyr) c.635T>A (p.Phe212Tyr) c.878T>A (p.Phe293Tyr) | |
| 9 | g.99142596T>C | CA374230618 | TGFBR1 | c.659T>C (p.Phe220Ser) c.671T>C (p.Phe224Ser) c.440T>C (p.Phe147Ser) c.428T>C (p.Phe143Ser) c.*662T>C (n.*662T>C) c.866T>C (p.Phe289Ser) c.635T>C (p.Phe212Ser) c.878T>C (p.Phe293Ser) | |
| 9 | g.99142596T>G | CA374230619 | TGFBR1 | c.659T>G (p.Phe220Cys) c.671T>G (p.Phe224Cys) c.440T>G (p.Phe147Cys) c.428T>G (p.Phe143Cys) c.*662T>G (n.*662T>G) c.866T>G (p.Phe289Cys) c.635T>G (p.Phe212Cys) c.878T>G (p.Phe293Cys) | |
| 9 | g.99142597T>A | CA374230620 | TGFBR1 | c.660T>A (p.Phe220Leu) c.672T>A (p.Phe224Leu) c.441T>A (p.Phe147Leu) c.429T>A (p.Phe143Leu) c.*663T>A (n.*663T>A) c.867T>A (p.Phe289Leu) c.636T>A (p.Phe212Leu) c.879T>A (p.Phe293Leu) | |
| 9 | g.99142597T>C | CA466434451 | TGFBR1 | c.660T>C (p.Phe220=) c.672T>C (p.Phe224=) c.441T>C (p.Phe147=) c.429T>C (p.Phe143=) c.*663T>C (n.*663T>C) c.867T>C (p.Phe289=) c.636T>C (p.Phe212=) c.879T>C (p.Phe293=) | ClinVar gnomAD v4 |
| 9 | g.99142597T>G | CA374230621 | TGFBR1 | c.660T>G (p.Phe220Leu) c.672T>G (p.Phe224Leu) c.441T>G (p.Phe147Leu) c.429T>G (p.Phe143Leu) c.*663T>G (n.*663T>G) c.867T>G (p.Phe289Leu) c.636T>G (p.Phe212Leu) c.879T>G (p.Phe293Leu) | |
| 9 | g.99142598G>A | CA374230622 | TGFBR1 | c.661G>A (p.Asp221Asn) c.673G>A (p.Asp225Asn) c.442G>A (p.Asp148Asn) c.430G>A (p.Asp144Asn) c.*664G>A (n.*664G>A) c.868G>A (p.Asp290Asn) c.637G>A (p.Asp213Asn) c.880G>A (p.Asp294Asn) | |
| 9 | g.99142598G>C | CA374230623 | TGFBR1 | c.661G>C (p.Asp221His) c.673G>C (p.Asp225His) c.442G>C (p.Asp148His) c.430G>C (p.Asp144His) c.*664G>C (n.*664G>C) c.868G>C (p.Asp290His) c.637G>C (p.Asp213His) c.880G>C (p.Asp294His) | |
| 9 | g.99142598G>T | CA374230624 | TGFBR1 | c.661G>T (p.Asp221Tyr) c.673G>T (p.Asp225Tyr) c.442G>T (p.Asp148Tyr) c.430G>T (p.Asp144Tyr) c.*664G>T (n.*664G>T) c.868G>T (p.Asp290Tyr) c.637G>T (p.Asp213Tyr) c.880G>T (p.Asp294Tyr) | ClinVar |
| 9 | g.99142599A>C | CA374230627 | TGFBR1 | c.662A>C (p.Asp221Ala) c.674A>C (p.Asp225Ala) c.443A>C (p.Asp148Ala) c.431A>C (p.Asp144Ala) c.*665A>C (n.*665A>C) c.869A>C (p.Asp290Ala) c.638A>C (p.Asp213Ala) c.881A>C (p.Asp294Ala) | |
| 9 | g.99142599A>G | CA374230626 | TGFBR1 | c.662A>G (p.Asp221Gly) c.674A>G (p.Asp225Gly) c.443A>G (p.Asp148Gly) c.431A>G (p.Asp144Gly) c.*665A>G (n.*665A>G) c.869A>G (p.Asp290Gly) c.638A>G (p.Asp213Gly) c.881A>G (p.Asp294Gly) | dbSNP |
| 9 | g.99142599A>T | CA374230625 | TGFBR1 | c.662A>T (p.Asp221Val) c.674A>T (p.Asp225Val) c.443A>T (p.Asp148Val) c.431A>T (p.Asp144Val) c.*665A>T (n.*665A>T) c.869A>T (p.Asp290Val) c.638A>T (p.Asp213Val) c.881A>T (p.Asp294Val) | |
| 9 | g.99142599_99142603delinsATTAC | CA1867260066 | TGFBR1 | c.662_666delinsATTAC (p.Asp221=) c.674_678delinsATTAC (p.Asp225=) c.443_447delinsATTAC (p.Asp148=) c.431_435delinsATTAC (p.Asp144=) c.*665_*669delinsATTAC (n.*665_*669delinsATTAC) c.869_873delinsATTAC (p.Asp290=) c.638_642delinsATTAC (p.Asp213=) c.881_885delinsATTAC (p.Asp294=) | |
| 9 | g.99142600T>A | CA374230628 | TGFBR1 | c.663T>A (p.Asp221Glu) c.675T>A (p.Asp225Glu) c.444T>A (p.Asp148Glu) c.432T>A (p.Asp144Glu) c.*666T>A (n.*666T>A) c.870T>A (p.Asp290Glu) c.639T>A (p.Asp213Glu) c.882T>A (p.Asp294Glu) | |
| 9 | g.99142600T>C | CA466434453 | TGFBR1 | c.663T>C (p.Asp221=) c.675T>C (p.Asp225=) c.444T>C (p.Asp148=) c.432T>C (p.Asp144=) c.*666T>C (n.*666T>C) c.870T>C (p.Asp290=) c.639T>C (p.Asp213=) c.882T>C (p.Asp294=) | gnomAD v4 |
| 9 | g.99142600T>G | CA374230629 | TGFBR1 | c.663T>G (p.Asp221Glu) c.675T>G (p.Asp225Glu) c.444T>G (p.Asp148Glu) c.432T>G (p.Asp144Glu) c.*666T>G (n.*666T>G) c.870T>G (p.Asp290Glu) c.639T>G (p.Asp213Glu) c.882T>G (p.Asp294Glu) | |
| 9 | g.99142603_99142606del | CA658797256 | TGFBR1 | c.666_669del (p.Tyr222Ter) c.678_681del (p.Tyr226Ter) c.447_450del (p.Tyr149Ter) c.435_438del (p.Tyr145Ter) c.*669_*672del (n.*669_*672del) c.873_876del (p.Tyr291Ter) c.642_645del (p.Tyr214Ter) c.885_888del (p.Tyr295Ter) | ClinVar dbSNP |
| 9 | g.99142601T>A | CA374230630 | TGFBR1 | c.664T>A (p.Tyr222Asn) c.676T>A (p.Tyr226Asn) c.445T>A (p.Tyr149Asn) c.433T>A (p.Tyr145Asn) c.*667T>A (n.*667T>A) c.871T>A (p.Tyr291Asn) c.640T>A (p.Tyr214Asn) c.883T>A (p.Tyr295Asn) | gnomAD v4 |
| 9 | g.99142601T>C | CA043255 | TGFBR1 | c.664T>C (p.Tyr222His) c.676T>C (p.Tyr226His) c.445T>C (p.Tyr149His) c.433T>C (p.Tyr145His) c.*667T>C (n.*667T>C) c.871T>C (p.Tyr291His) c.640T>C (p.Tyr214His) c.883T>C (p.Tyr295His) | dbSNP ExAC gnomAD v2 |
| 9 | g.99142601T>G | CA374230631 | TGFBR1 | c.664T>G (p.Tyr222Asp) c.676T>G (p.Tyr226Asp) c.445T>G (p.Tyr149Asp) c.433T>G (p.Tyr145Asp) c.*667T>G (n.*667T>G) c.871T>G (p.Tyr291Asp) c.640T>G (p.Tyr214Asp) c.883T>G (p.Tyr295Asp) | dbSNP |
| 9 | g.99142601T= | CA1867260071 | TGFBR1 | c.664T= (p.Tyr222=) c.676T= (p.Tyr226=) c.445T= (p.Tyr149=) c.433T= (p.Tyr145=) c.*667T= (n.*667T=) c.871T= (p.Tyr291=) c.640T= (p.Tyr214=) c.883T= (p.Tyr295=) | |
| 9 | g.99142602A= | CA1867260074 | TGFBR1 | c.665A= (p.Tyr222=) c.677A= (p.Tyr226=) c.446A= (p.Tyr149=) c.434A= (p.Tyr145=) c.*668A= (n.*668A=) c.872A= (p.Tyr291=) c.641A= (p.Tyr214=) c.884A= (p.Tyr295=) | |
| 9 | g.99142602A>C | CA374230632 | TGFBR1 | c.665A>C (p.Tyr222Ser) c.677A>C (p.Tyr226Ser) c.446A>C (p.Tyr149Ser) c.434A>C (p.Tyr145Ser) c.*668A>C (n.*668A>C) c.872A>C (p.Tyr291Ser) c.641A>C (p.Tyr214Ser) c.884A>C (p.Tyr295Ser) | |
| 9 | g.99142602A>G | CA196891562 | TGFBR1 | c.665A>G (p.Tyr222Cys) c.677A>G (p.Tyr226Cys) c.446A>G (p.Tyr149Cys) c.434A>G (p.Tyr145Cys) c.*668A>G (n.*668A>G) c.872A>G (p.Tyr291Cys) c.641A>G (p.Tyr214Cys) c.884A>G (p.Tyr295Cys) | dbSNP gnomAD v4 |
| 9 | g.99142602A>T | CA374230633 | TGFBR1 | c.665A>T (p.Tyr222Phe) c.677A>T (p.Tyr226Phe) c.446A>T (p.Tyr149Phe) c.434A>T (p.Tyr145Phe) c.*668A>T (n.*668A>T) c.872A>T (p.Tyr291Phe) c.641A>T (p.Tyr214Phe) c.884A>T (p.Tyr295Phe) | |
| 9 | g.99142603C>A | CA374230634 | TGFBR1 | c.666C>A (p.Tyr222Ter) c.678C>A (p.Tyr226Ter) c.447C>A (p.Tyr149Ter) c.435C>A (p.Tyr145Ter) c.*669C>A (n.*669C>A) c.873C>A (p.Tyr291Ter) c.642C>A (p.Tyr214Ter) c.885C>A (p.Tyr295Ter) | COSMIC |
| 9 | g.99142603C>G | CA374230635 | TGFBR1 | c.666C>G (p.Tyr222Ter) c.678C>G (p.Tyr226Ter) c.447C>G (p.Tyr149Ter) c.435C>G (p.Tyr145Ter) c.*669C>G (n.*669C>G) c.873C>G (p.Tyr291Ter) c.642C>G (p.Tyr214Ter) c.885C>G (p.Tyr295Ter) | ClinVar dbSNP |
| 9 | g.99142603C>T | CA466434458 | TGFBR1 | c.666C>T (p.Tyr222=) c.678C>T (p.Tyr226=) c.447C>T (p.Tyr149=) c.435C>T (p.Tyr145=) c.*669C>T (n.*669C>T) c.873C>T (p.Tyr291=) c.642C>T (p.Tyr214=) c.885C>T (p.Tyr295=) | gnomAD v4 |
| 9 | g.99142604T>A | CA374230636 | TGFBR1 | c.667T>A (p.Leu223Ile) c.679T>A (p.Leu227Ile) c.448T>A (p.Leu150Ile) c.436T>A (p.Leu146Ile) c.*670T>A (n.*670T>A) c.874T>A (p.Leu292Ile) c.643T>A (p.Leu215Ile) c.886T>A (p.Leu296Ile) | |
| 9 | g.99142604T>C | CA466434461 | TGFBR1 | c.667T>C (p.Leu223=) c.679T>C (p.Leu227=) c.448T>C (p.Leu150=) c.436T>C (p.Leu146=) c.*670T>C (n.*670T>C) c.874T>C (p.Leu292=) c.643T>C (p.Leu215=) c.886T>C (p.Leu296=) | |
| 9 | g.99142604T>G | CA374230637 | TGFBR1 | c.667T>G (p.Leu223Val) c.679T>G (p.Leu227Val) c.448T>G (p.Leu150Val) c.436T>G (p.Leu146Val) c.*670T>G (n.*670T>G) c.874T>G (p.Leu292Val) c.643T>G (p.Leu215Val) c.886T>G (p.Leu296Val) |