Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.121137358_121137363del | CA2510875698 | TBCEL-TECTA,TECTA | c.2942-63_2942-58del (n.2942-63_2942-58del) c.249-63_249-58del c.3899-63_3899-58del (n.3899-63_3899-58del) | |
11 | g.121137360_121137363dup | CA2793886317 | TBCEL-TECTA,TECTA | c.2942-61_2942-58dup (n.2942-61_2942-58dup) c.249-61_249-58dup c.3899-61_3899-58dup (n.3899-61_3899-58dup) | |
11 | g.121137363C>G | CA2575008412 | TBCEL-TECTA,TECTA | c.2942-58C>G (n.2942-58C>G) c.249-58C>G c.3899-58C>G (n.3899-58C>G) | gnomAD v4 |
11 | g.121137363C>T | CA2533248928 | TBCEL-TECTA,TECTA | c.2942-58C>T (n.2942-58C>T) c.249-58C>T c.3899-58C>T (n.3899-58C>T) | gnomAD v4 |
11 | g.121137364T>G | CA2616511726 | TBCEL-TECTA,TECTA | c.2942-57T>G (n.2942-57T>G) c.249-57T>G c.3899-57T>G (n.3899-57T>G) | gnomAD v4 |
11 | g.121137366C>A | CA229825147 | TBCEL-TECTA,TECTA | c.2942-55C>A (n.2942-55C>A) c.249-55C>A c.3899-55C>A (n.3899-55C>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121137366C= | CA2004733580 | TBCEL-TECTA,TECTA | c.2942-55C= (n.2942-55C=) c.249-55C= c.3899-55C= (n.3899-55C=) | |
11 | g.121137366C>G | CA2553416533 | TBCEL-TECTA,TECTA | c.2942-55C>G (n.2942-55C>G) c.249-55C>G c.3899-55C>G (n.3899-55C>G) | |
11 | g.121137366C>T | CA2616511727 | TBCEL-TECTA,TECTA | c.2942-55C>T (n.2942-55C>T) c.249-55C>T c.3899-55C>T (n.3899-55C>T) | gnomAD v4 |
11 | g.121137367T>C | CA229825149 | TBCEL-TECTA,TECTA | c.2942-54T>C (n.2942-54T>C) c.249-54T>C c.3899-54T>C (n.3899-54T>C) | dbSNP |
11 | g.121137367T= | CA2004733581 | TBCEL-TECTA,TECTA | c.2942-54T= (n.2942-54T=) c.249-54T= c.3899-54T= (n.3899-54T=) | |
11 | g.121137368G>C | CA942917310 | TBCEL-TECTA,TECTA | c.2942-53G>C (n.2942-53G>C) c.249-53G>C c.3899-53G>C (n.3899-53G>C) | dbSNP gnomAD v4 |
11 | g.121137368G= | CA2004733582 | TBCEL-TECTA,TECTA | c.2942-53G= (n.2942-53G=) c.249-53G= c.3899-53G= (n.3899-53G=) | |
11 | g.121137372_121137373del | CA2616511728 | TBCEL-TECTA,TECTA | c.2942-49_2942-48del (n.2942-49_2942-48del) c.249-49_249-48del c.3899-49_3899-48del (n.3899-49_3899-48del) | gnomAD v4 |
11 | g.121137370C>A | CA2505590827 | TBCEL-TECTA,TECTA | c.2942-51C>A (n.2942-51C>A) c.249-51C>A c.3899-51C>A (n.3899-51C>A) | |
11 | g.121137372C= | CA2004733583 | TBCEL-TECTA,TECTA | c.2942-49C= (n.2942-49C=) c.249-49C= c.3899-49C= (n.3899-49C=) | |
11 | g.121137372C>T | CA6327111 | TBCEL-TECTA,TECTA | c.2942-49C>T (n.2942-49C>T) c.249-49C>T c.3899-49C>T (n.3899-49C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137375_121137383delinsACTTTTGTC | CA2004733584 | TBCEL-TECTA,TECTA | c.2942-46_2942-38delinsACTTTTGTC (n.2942-46_2942-38delinsACTTTTGTC) c.249-46_249-38delinsACTTTTGTC c.3899-46_3899-38delinsACTTTTGTC (n.3899-46_3899-38delinsACTTTTGTC) | |
11 | g.121137376C>A | CA6327113 | TBCEL-TECTA,TECTA | c.2942-45C>A (n.2942-45C>A) c.249-45C>A c.3899-45C>A (n.3899-45C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121137376C= | CA2004733586 | TBCEL-TECTA,TECTA | c.2942-45C= (n.2942-45C=) c.249-45C= c.3899-45C= (n.3899-45C=) | |
11 | g.121137376C>T | CA2616511729 | TBCEL-TECTA,TECTA | c.2942-45C>T (n.2942-45C>T) c.249-45C>T c.3899-45C>T (n.3899-45C>T) | gnomAD v4 |
11 | g.121137381_121137388del | CA6327112 | TBCEL-TECTA,TECTA | c.2942-40_2942-33del (n.2942-40_2942-33del) c.249-40_249-33del c.3899-40_3899-33del (n.3899-40_3899-33del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137377T>C | CA2616511730 | TBCEL-TECTA,TECTA | c.2942-44T>C (n.2942-44T>C) c.249-44T>C c.3899-44T>C (n.3899-44T>C) | gnomAD v4 |
11 | g.121137379T>C | CA6327114 | TBCEL-TECTA,TECTA | c.2942-42T>C (n.2942-42T>C) c.249-42T>C c.3899-42T>C (n.3899-42T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121137379T>G | CA2616511731 | TBCEL-TECTA,TECTA | c.2942-42T>G (n.2942-42T>G) c.249-42T>G c.3899-42T>G (n.3899-42T>G) | gnomAD v4 |
11 | g.121137379T= | CA2004733587 | TBCEL-TECTA,TECTA | c.2942-42T= (n.2942-42T=) c.249-42T= c.3899-42T= (n.3899-42T=) | |
11 | g.121137380T>A | CA2616511732 | TBCEL-TECTA,TECTA | c.2942-41T>A (n.2942-41T>A) c.249-41T>A c.3899-41T>A (n.3899-41T>A) | gnomAD v4 |
11 | g.121137380T>C | CA2725114049 | TBCEL-TECTA,TECTA | c.2942-41T>C (n.2942-41T>C) c.249-41T>C c.3899-41T>C (n.3899-41T>C) | dbSNP |
11 | g.121137381G>T | CA2793886318 | TBCEL-TECTA,TECTA | c.2942-40G>T (n.2942-40G>T) c.249-40G>T c.3899-40G>T (n.3899-40G>T) | |
11 | g.121137382T>A | CA2004733589 | TBCEL-TECTA,TECTA | c.2942-39T>A (n.2942-39T>A) c.249-39T>A c.3899-39T>A (n.3899-39T>A) | dbSNP |
11 | g.121137382T= | CA2004733588 | TBCEL-TECTA,TECTA | c.2942-39T= (n.2942-39T=) c.249-39T= c.3899-39T= (n.3899-39T=) | |
11 | g.121137383C= | CA2004733591 | TBCEL-TECTA,TECTA | c.2942-38C= (n.2942-38C=) c.249-38C= c.3899-38C= (n.3899-38C=) | |
11 | g.121137383C>G | CA6327115 | TBCEL-TECTA,TECTA | c.2942-38C>G (n.2942-38C>G) c.249-38C>G c.3899-38C>G (n.3899-38C>G) | dbSNP ExAC gnomAD v2 |
11 | g.121137385T>G | CA2793886319 | TBCEL-TECTA,TECTA | c.2942-36T>G (n.2942-36T>G) c.249-36T>G c.3899-36T>G (n.3899-36T>G) | |
11 | g.121137389C>T | CA2616511733 | TBCEL-TECTA,TECTA | c.2942-32C>T (n.2942-32C>T) c.249-32C>T c.3899-32C>T (n.3899-32C>T) | gnomAD v4 |
11 | g.121137391C>A | CA2567410785 | TBCEL-TECTA,TECTA | c.2942-30C>A (n.2942-30C>A) c.249-30C>A c.3899-30C>A (n.3899-30C>A) | gnomAD v4 |
11 | g.121137391C= | CA2004733592 | TBCEL-TECTA,TECTA | c.2942-30C= (n.2942-30C=) c.249-30C= c.3899-30C= (n.3899-30C=) | |
11 | g.121137391C>T | CA229825203 | TBCEL-TECTA,TECTA | c.2942-30C>T (n.2942-30C>T) c.249-30C>T c.3899-30C>T (n.3899-30C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137392A= | CA2004733593 | TBCEL-TECTA,TECTA | c.2942-29A= (n.2942-29A=) c.249-29A= c.3899-29A= (n.3899-29A=) | |
11 | g.121137392A>G | CA602580267 | TBCEL-TECTA,TECTA | c.2942-29A>G (n.2942-29A>G) c.249-29A>G c.3899-29A>G (n.3899-29A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137394A= | CA2004733595 | TBCEL-TECTA,TECTA | c.2942-27A= (n.2942-27A=) c.249-27A= c.3899-27A= (n.3899-27A=) | |
11 | g.121137394A>C | CA2004733596 | TBCEL-TECTA,TECTA | c.2942-27A>C (n.2942-27A>C) c.249-27A>C c.3899-27A>C (n.3899-27A>C) | dbSNP |
11 | g.121137395C>A | CA2004733599 | TBCEL-TECTA,TECTA | c.2942-26C>A (n.2942-26C>A) c.249-26C>A c.3899-26C>A (n.3899-26C>A) | dbSNP |
11 | g.121137395C= | CA2004733597 | TBCEL-TECTA,TECTA | c.2942-26C= (n.2942-26C=) c.249-26C= c.3899-26C= (n.3899-26C=) | |
11 | g.121137395C>T | CA602580268 | TBCEL-TECTA,TECTA | c.2942-26C>T (n.2942-26C>T) c.249-26C>T c.3899-26C>T (n.3899-26C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121137396C= | CA2004733600 | TBCEL-TECTA,TECTA | c.2942-25C= (n.2942-25C=) c.249-25C= c.3899-25C= (n.3899-25C=) | |
11 | g.121137396C>T | CA229825206 | TBCEL-TECTA,TECTA | c.2942-25C>T (n.2942-25C>T) c.249-25C>T c.3899-25C>T (n.3899-25C>T) | dbSNP gnomAD v4 |
11 | g.121137397C>A | CA229825209 | TBCEL-TECTA,TECTA | c.2942-24C>A (n.2942-24C>A) c.249-24C>A c.3899-24C>A (n.3899-24C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137397C= | CA2004733602 | TBCEL-TECTA,TECTA | c.2942-24C= (n.2942-24C=) c.249-24C= c.3899-24C= (n.3899-24C=) | |
11 | g.121137397C>T | CA6327116 | TBCEL-TECTA,TECTA | c.2942-24C>T (n.2942-24C>T) c.249-24C>T c.3899-24C>T (n.3899-24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137398del | CA2616511734 | TBCEL-TECTA,TECTA | c.2942-23del (n.2942-23del) c.249-23del c.3899-23del (n.3899-23del) | gnomAD v4 |
11 | g.121137398G>A | CA6327117 | TBCEL-TECTA,TECTA | c.2942-23G>A (n.2942-23G>A) c.249-23G>A c.3899-23G>A (n.3899-23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137398G= | CA2004733604 | TBCEL-TECTA,TECTA | c.2942-23G= (n.2942-23G=) c.249-23G= c.3899-23G= (n.3899-23G=) | |
11 | g.121137398G>T | CA672601848 | TBCEL-TECTA,TECTA | c.2942-23G>T (n.2942-23G>T) c.249-23G>T c.3899-23G>T (n.3899-23G>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121137402_121137405delinsTCTC | CA2004733606 | TBCEL-TECTA,TECTA | c.2942-19_2942-16delinsTCTC (n.2942-19_2942-16delinsTCTC) c.249-19_249-16delinsTCTC c.3899-19_3899-16delinsTCTC (n.3899-19_3899-16delinsTCTC) | |
11 | g.121137403C= | CA2004733607 | TBCEL-TECTA,TECTA | c.2942-18C= (n.2942-18C=) c.249-18C= c.3899-18C= (n.3899-18C=) | |
11 | g.121137403C>G | CA6327119 | TBCEL-TECTA,TECTA | c.2942-18C>G (n.2942-18C>G) c.249-18C>G c.3899-18C>G (n.3899-18C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121137403C>T | CA6327120 | TBCEL-TECTA,TECTA | c.2942-18C>T (n.2942-18C>T) c.249-18C>T c.3899-18C>T (n.3899-18C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137405_121137407del | CA6327118 | TBCEL-TECTA,TECTA | c.2942-16_2942-14del (n.2942-16_2942-14del) c.249-16_249-14del c.3899-16_3899-14del (n.3899-16_3899-14del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121137404T>C | CA6327121 | TBCEL-TECTA,TECTA | c.2942-17T>C (n.2942-17T>C) c.249-17T>C c.3899-17T>C (n.3899-17T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137404T= | CA2004733609 | TBCEL-TECTA,TECTA | c.2942-17T= (n.2942-17T=) c.249-17T= c.3899-17T= (n.3899-17T=) | |
11 | g.121137405C= | CA2004733610 | TBCEL-TECTA,TECTA | c.2942-16C= (n.2942-16C=) c.249-16C= c.3899-16C= (n.3899-16C=) | |
11 | g.121137405C>T | CA6327122 | TBCEL-TECTA,TECTA | c.2942-16C>T (n.2942-16C>T) c.249-16C>T c.3899-16C>T (n.3899-16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137406C= | CA2004733611 | TBCEL-TECTA,TECTA | c.2942-15C= (n.2942-15C=) c.249-15C= c.3899-15C= (n.3899-15C=) | |
11 | g.121137406C>T | CA672601858 | TBCEL-TECTA,TECTA | c.2942-15C>T (n.2942-15C>T) c.249-15C>T c.3899-15C>T (n.3899-15C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121137407T>A | CA2616511735 | TBCEL-TECTA,TECTA | c.2942-14T>A (n.2942-14T>A) c.249-14T>A c.3899-14T>A (n.3899-14T>A) | gnomAD v4 |
11 | g.121137408T>C | CA2616511736 | TBCEL-TECTA,TECTA | c.2942-13T>C (n.2942-13T>C) c.249-13T>C c.3899-13T>C (n.3899-13T>C) | gnomAD v4 |
11 | g.121137409G>T | CA2616511737 | TBCEL-TECTA,TECTA | c.2942-12G>T (n.2942-12G>T) c.249-12G>T c.3899-12G>T (n.3899-12G>T) | gnomAD v4 |
11 | g.121137410A= | CA2004733613 | TBCEL-TECTA,TECTA | c.2942-11A= (n.2942-11A=) c.249-11A= c.3899-11A= (n.3899-11A=) | |
11 | g.121137410A>G | CA942917327 | TBCEL-TECTA,TECTA | c.2942-11A>G (n.2942-11A>G) c.249-11A>G c.3899-11A>G (n.3899-11A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121137410A>T | CA602580269 | TBCEL-TECTA,TECTA | c.2942-11A>T (n.2942-11A>T) c.249-11A>T c.3899-11A>T (n.3899-11A>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121137411C= | CA2004733614 | TBCEL-TECTA,TECTA | c.2942-10C= (n.2942-10C=) c.249-10C= c.3899-10C= (n.3899-10C=) | |
11 | g.121137411C>T | CA6327123 | TBCEL-TECTA,TECTA | c.2942-10C>T (n.2942-10C>T) c.249-10C>T c.3899-10C>T (n.3899-10C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137412C>A | CA2575008415 | TBCEL-TECTA,TECTA | c.2942-9C>A (n.2942-9C>A) c.249-9C>A c.3899-9C>A (n.3899-9C>A) | gnomAD v4 |
11 | g.121137412C= | CA2004733616 | TBCEL-TECTA,TECTA | c.2942-9C= (n.2942-9C=) c.249-9C= c.3899-9C= (n.3899-9C=) | |
11 | g.121137412C>T | CA672601867 | TBCEL-TECTA,TECTA | c.2942-9C>T (n.2942-9C>T) c.249-9C>T c.3899-9C>T (n.3899-9C>T) | dbSNP |
11 | g.121137414C>A | CA6327125 | TBCEL-TECTA,TECTA | c.2942-7C>A (n.2942-7C>A) c.249-7C>A c.3899-7C>A (n.3899-7C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121137414C= | CA2004733617 | TBCEL-TECTA,TECTA | c.2942-7C= (n.2942-7C=) c.249-7C= c.3899-7C= (n.3899-7C=) | |
11 | g.121137414C>T | CA6327124 | TBCEL-TECTA,TECTA | c.2942-7C>T (n.2942-7C>T) c.249-7C>T c.3899-7C>T (n.3899-7C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121137415C= | CA2004733619 | TBCEL-TECTA,TECTA | c.2942-6C= (n.2942-6C=) c.249-6C= c.3899-6C= (n.3899-6C=) | |
11 | g.121137415C>G | CA2004733620 | TBCEL-TECTA,TECTA | c.2942-6C>G (n.2942-6C>G) c.249-6C>G c.3899-6C>G (n.3899-6C>G) | ClinVar dbSNP |
11 | g.121137415C>T | CA6327126 | TBCEL-TECTA,TECTA | c.2942-6C>T (n.2942-6C>T) c.249-6C>T c.3899-6C>T (n.3899-6C>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
11 | g.121137416T>A | CA942917328 | TBCEL-TECTA,TECTA | c.2942-5T>A (n.2942-5T>A) c.249-5T>A c.3899-5T>A (n.3899-5T>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121137416T>C | CA602580270 | TBCEL-TECTA,TECTA | c.2942-5T>C (n.2942-5T>C) c.249-5T>C c.3899-5T>C (n.3899-5T>C) | dbSNP gnomAD v2 |
11 | g.121137416T= | CA2004733622 | TBCEL-TECTA,TECTA | c.2942-5T= (n.2942-5T=) c.249-5T= c.3899-5T= (n.3899-5T=) | |
11 | g.121137419_121137423del | CA2616511738 | TBCEL-TECTA,TECTA | c.2942-2_2944del c.249-2_251del c.3899-2_3901del | gnomAD v4 |
11 | g.121137419A>C | CA383018129 | TBCEL-TECTA,TECTA | c.2942-2A>C (n.2942-2A>C) c.249-2A>C c.3899-2A>C (n.3899-2A>C) | |
11 | g.121137419A>G | CA383018130 | TBCEL-TECTA,TECTA | c.2942-2A>G (n.2942-2A>G) c.249-2A>G c.3899-2A>G (n.3899-2A>G) | |
11 | g.121137419A>T | CA383018132 | TBCEL-TECTA,TECTA | c.2942-2A>T (n.2942-2A>T) c.249-2A>T c.3899-2A>T (n.3899-2A>T) | |
11 | g.121137420G>A | CA383018135 | TBCEL-TECTA,TECTA | c.2942-1G>A (n.2942-1G>A) c.249-1G>A c.3899-1G>A (n.3899-1G>A) | gnomAD v4 |
11 | g.121137420G>C | CA383018137 | TBCEL-TECTA,TECTA | c.2942-1G>C (n.2942-1G>C) c.249-1G>C c.3899-1G>C (n.3899-1G>C) | |
11 | g.121137420G>T | CA383018134 | TBCEL-TECTA,TECTA | c.2942-1G>T (n.2942-1G>T) c.249-1G>T c.3899-1G>T (n.3899-1G>T) | |
11 | g.121137421C>A | CA383018140 | TBCEL-TECTA,TECTA | c.2942C>A (p.Pro981Gln) c.249C>A c.3899C>A (p.Pro1300Gln) | |
11 | g.121137421C>G | CA383018141 | TBCEL-TECTA,TECTA | c.2942C>G (p.Pro981Arg) c.249C>G c.3899C>G (p.Pro1300Arg) | |
11 | g.121137421C>T | CA383018143 | TBCEL-TECTA,TECTA | c.2942C>T (p.Pro981Leu) c.249C>T c.3899C>T (p.Pro1300Leu) | |
11 | g.121137422A= | CA2004733624 | TBCEL-TECTA,TECTA | c.2943A= (p.Pro981=) c.250A= c.3900A= (p.Pro1300=) | |
11 | g.121137422A>C | CA477382287 | TBCEL-TECTA,TECTA | c.2943A>C (p.Pro981=) c.250A>C c.3900A>C (p.Pro1300=) | |
11 | g.121137422A>G | CA6327127 | TBCEL-TECTA,TECTA | c.2943A>G (p.Pro981=) c.250A>G c.3900A>G (p.Pro1300=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137422A>T | CA229825276 | TBCEL-TECTA,TECTA | c.2943A>T (p.Pro981=) c.250A>T c.3900A>T (p.Pro1300=) | dbSNP gnomAD v4 |
11 | g.121137423C>A | CA383018149 | TBCEL-TECTA,TECTA | c.2944C>A (p.Leu982Met) c.251C>A c.3901C>A (p.Leu1301Met) | |
11 | g.121137423C>G | CA383018147 | TBCEL-TECTA,TECTA | c.2944C>G (p.Leu982Val) c.251C>G c.3901C>G (p.Leu1301Val) | |
11 | g.121137423C>T | CA477382290 | TBCEL-TECTA,TECTA | c.2944C>T (p.Leu982=) c.251C>T c.3901C>T (p.Leu1301=) | dbSNP gnomAD v4 |
11 | g.121137424T>A | CA383018151 | TBCEL-TECTA,TECTA | c.2945T>A (p.Leu982Gln) c.252T>A c.3902T>A (p.Leu1301Gln) | |
11 | g.121137424T>C | CA136038 | TBCEL-TECTA,TECTA | c.2945T>C (p.Leu982Pro) c.252T>C c.3902T>C (p.Leu1301Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137424T>G | CA383018154 | TBCEL-TECTA,TECTA | c.2945T>G (p.Leu982Arg) c.252T>G c.3902T>G (p.Leu1301Arg) | |
11 | g.121137424T= | CA2004733628 | TBCEL-TECTA,TECTA | c.2945T= (p.Leu982=) c.252T= c.3902T= (p.Leu1301=) | |
11 | g.121137425G>A | CA229825305 | TBCEL-TECTA,TECTA | c.2946G>A (p.Leu982=) c.253G>A c.3903G>A (p.Leu1301=) | dbSNP |
11 | g.121137425G>C | CA477382293 | TBCEL-TECTA,TECTA | c.2946G>C (p.Leu982=) c.253G>C c.3903G>C (p.Leu1301=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121137425G= | CA2004733632 | TBCEL-TECTA,TECTA | c.2946G= (p.Leu982=) c.253G= c.3903G= (p.Leu1301=) | |
11 | g.121137425G>T | CA477382294 | TBCEL-TECTA,TECTA | c.2946G>T (p.Leu982=) c.253G>T c.3903G>T (p.Leu1301=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121137426G>A | CA383018156 | TBCEL-TECTA,TECTA | c.2947G>A (p.Glu983Lys) c.254G>A c.3904G>A (p.Glu1302Lys) | |
11 | g.121137426G>C | CA383018158 | TBCEL-TECTA,TECTA | c.2947G>C (p.Glu983Gln) c.254G>C c.3904G>C (p.Glu1302Gln) | dbSNP |
11 | g.121137426G= | CA2004733634 | TBCEL-TECTA,TECTA | c.2947G= (p.Glu983=) c.254G= c.3904G= (p.Glu1302=) | |
11 | g.121137426G>T | CA383018160 | TBCEL-TECTA,TECTA | c.2947G>T (p.Glu983Ter) c.254G>T c.3904G>T (p.Glu1302Ter) | |
11 | g.121137427A>C | CA383018163 | TBCEL-TECTA,TECTA | c.2948A>C (p.Glu983Ala) c.255A>C c.3905A>C (p.Glu1302Ala) | |
11 | g.121137427A>G | CA383018167 | TBCEL-TECTA,TECTA | c.2948A>G (p.Glu983Gly) c.255A>G c.3905A>G (p.Glu1302Gly) | |
11 | g.121137427A>T | CA383018165 | TBCEL-TECTA,TECTA | c.2948A>T (p.Glu983Val) c.255A>T c.3905A>T (p.Glu1302Val) | |
11 | g.121137428G>A | CA477382302 | TBCEL-TECTA,TECTA | c.2949G>A (p.Glu983=) c.256G>A c.3906G>A (p.Glu1302=) | |
11 | g.121137428G>C | CA229825323 | TBCEL-TECTA,TECTA | c.2949G>C (p.Glu983Asp) c.256G>C c.3906G>C (p.Glu1302Asp) | dbSNP |
11 | g.121137428G= | CA2004733636 | TBCEL-TECTA,TECTA | c.2949G= (p.Glu983=) c.256G= c.3906G= (p.Glu1302=) | |
11 | g.121137428G>T | CA383018170 | TBCEL-TECTA,TECTA | c.2949G>T (p.Glu983Asp) c.256G>T c.3906G>T (p.Glu1302Asp) | |
11 | g.121137429T>A | CA383018172 | TBCEL-TECTA,TECTA | c.2950T>A (p.Cys984Ser) c.257T>A c.3907T>A (p.Cys1303Ser) | |
11 | g.121137429T>C | CA383018174 | TBCEL-TECTA,TECTA | c.2950T>C (p.Cys984Arg) c.257T>C c.3907T>C (p.Cys1303Arg) | |
11 | g.121137429T>G | CA383018176 | TBCEL-TECTA,TECTA | c.2950T>G (p.Cys984Gly) c.257T>G c.3907T>G (p.Cys1303Gly) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121137429T= | CA2004733638 | TBCEL-TECTA,TECTA | c.2950T= (p.Cys984=) c.257T= c.3907T= (p.Cys1303=) | |
11 | g.121137430G>A | CA383018178 | TBCEL-TECTA,TECTA | c.2951G>A (p.Cys984Tyr) c.258G>A c.3908G>A (p.Cys1303Tyr) | |
11 | g.121137430G>C | CA383018180 | TBCEL-TECTA,TECTA | c.2951G>C (p.Cys984Ser) c.258G>C c.3908G>C (p.Cys1303Ser) | |
11 | g.121137430G>T | CA383018182 | TBCEL-TECTA,TECTA | c.2951G>T (p.Cys984Phe) c.258G>T c.3908G>T (p.Cys1303Phe) | |
11 | g.121137431C>A | CA383018186 | TBCEL-TECTA,TECTA | c.2952C>A (p.Cys984Ter) c.259C>A c.3909C>A (p.Cys1303Ter) | |
11 | g.121137431C>G | CA383018183 | TBCEL-TECTA,TECTA | c.2952C>G (p.Cys984Trp) c.259C>G c.3909C>G (p.Cys1303Trp) | |
11 | g.121137431C>T | CA477382314 | TBCEL-TECTA,TECTA | c.2952C>T (p.Cys984=) c.259C>T c.3909C>T (p.Cys1303=) | |
11 | g.121137432C>A | CA383018188 | TBCEL-TECTA,TECTA | c.2953C>A (p.Pro985Thr) c.260C>A c.3910C>A (p.Pro1304Thr) | COSMIC |
11 | g.121137432C>G | CA383018190 | TBCEL-TECTA,TECTA | c.2953C>G (p.Pro985Ala) c.260C>G c.3910C>G (p.Pro1304Ala) | |
11 | g.121137432C>T | CA383018192 | TBCEL-TECTA,TECTA | c.2953C>T (p.Pro985Ser) c.260C>T c.3910C>T (p.Pro1304Ser) | |
11 | g.121137433C>A | CA383018193 | TBCEL-TECTA,TECTA | c.2954C>A (p.Pro985Gln) c.261C>A c.3911C>A (p.Pro1304Gln) | |
11 | g.121137433C>G | CA383018195 | TBCEL-TECTA,TECTA | c.2954C>G (p.Pro985Arg) c.261C>G c.3911C>G (p.Pro1304Arg) | |
11 | g.121137433C>T | CA383018197 | TBCEL-TECTA,TECTA | c.2954C>T (p.Pro985Leu) c.261C>T c.3911C>T (p.Pro1304Leu) | |
11 | g.121137434A>C | CA477382318 | TBCEL-TECTA,TECTA | c.2955A>C (p.Pro985=) c.262A>C c.3912A>C (p.Pro1304=) | gnomAD v4 |
11 | g.121137434A>G | CA477382319 | TBCEL-TECTA,TECTA | c.2955A>G (p.Pro985=) c.262A>G c.3912A>G (p.Pro1304=) | |
11 | g.121137434A>T | CA477382320 | TBCEL-TECTA,TECTA | c.2955A>T (p.Pro985=) c.262A>T c.3912A>T (p.Pro1304=) | |
11 | g.121137435G>A | CA383018199 | TBCEL-TECTA,TECTA | c.2956G>A (p.Glu986Lys) c.263G>A c.3913G>A (p.Glu1305Lys) | |
11 | g.121137435G>C | CA383018201 | TBCEL-TECTA,TECTA | c.2956G>C (p.Glu986Gln) c.263G>C c.3913G>C (p.Glu1305Gln) | |
11 | g.121137435G>T | CA383018200 | TBCEL-TECTA,TECTA | c.2956G>T (p.Glu986Ter) c.263G>T c.3913G>T (p.Glu1305Ter) | |
11 | g.121137436A>C | CA383018204 | TBCEL-TECTA,TECTA | c.2957A>C (p.Glu986Ala) c.264A>C c.3914A>C (p.Glu1305Ala) | |
11 | g.121137436A>G | CA383018206 | TBCEL-TECTA,TECTA | c.2957A>G (p.Glu986Gly) c.264A>G c.3914A>G (p.Glu1305Gly) | |
11 | g.121137436A>T | CA383018207 | TBCEL-TECTA,TECTA | c.2957A>T (p.Glu986Val) c.264A>T c.3914A>T (p.Glu1305Val) | |
11 | g.121137437G>A | CA477382322 | TBCEL-TECTA,TECTA | c.2958G>A (p.Glu986=) c.265G>A c.3915G>A (p.Glu1305=) | COSMIC |
11 | g.121137437G>C | CA383018210 | TBCEL-TECTA,TECTA | c.2958G>C (p.Glu986Asp) c.265G>C c.3915G>C (p.Glu1305Asp) | |
11 | g.121137437G>T | CA383018212 | TBCEL-TECTA,TECTA | c.2958G>T (p.Glu986Asp) c.265G>T c.3915G>T (p.Glu1305Asp) | |
11 | g.121137438A>C | CA383018215 | TBCEL-TECTA,TECTA | c.2959A>C (p.Asn987His) c.266A>C c.3916A>C (p.Asn1306His) | |
11 | g.121137438A>G | CA383018216 | TBCEL-TECTA,TECTA | c.2959A>G (p.Asn987Asp) c.266A>G c.3916A>G (p.Asn1306Asp) | |
11 | g.121137438A>T | CA383018218 | TBCEL-TECTA,TECTA | c.2959A>T (p.Asn987Tyr) c.266A>T c.3916A>T (p.Asn1306Tyr) | |
11 | g.121137439A= | CA2004733641 | TBCEL-TECTA,TECTA | c.2960A= (p.Asn987=) c.267A= c.3917A= (p.Asn1306=) | |
11 | g.121137439A>C | CA6327128 | TBCEL-TECTA,TECTA | c.2960A>C (p.Asn987Thr) c.267A>C c.3917A>C (p.Asn1306Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121137439A>G | CA383018221 | TBCEL-TECTA,TECTA | c.2960A>G (p.Asn987Ser) c.267A>G c.3917A>G (p.Asn1306Ser) | |
11 | g.121137439A>T | CA6327129 | TBCEL-TECTA,TECTA | c.2960A>T (p.Asn987Ile) c.267A>T c.3917A>T (p.Asn1306Ile) | dbSNP ExAC gnomAD v2 |
11 | g.121137440C>A | CA383018225 | TBCEL-TECTA,TECTA | c.2961C>A (p.Asn987Lys) c.268C>A c.3918C>A (p.Asn1306Lys) | |
11 | g.121137440C>G | CA383018227 | TBCEL-TECTA,TECTA | c.2961C>G (p.Asn987Lys) c.268C>G c.3918C>G (p.Asn1306Lys) | gnomAD v4 |
11 | g.121137440C>T | CA477382327 | TBCEL-TECTA,TECTA | c.2961C>T (p.Asn987=) c.268C>T c.3918C>T (p.Asn1306=) | |
11 | g.121137441A>C | CA383018229 | TBCEL-TECTA,TECTA | c.2962A>C (p.Ser988Arg) c.269A>C c.3919A>C (p.Ser1307Arg) | |
11 | g.121137441A>G | CA383018231 | TBCEL-TECTA,TECTA | c.2962A>G (p.Ser988Gly) c.269A>G c.3919A>G (p.Ser1307Gly) | |
11 | g.121137441A>T | CA383018233 | TBCEL-TECTA,TECTA | c.2962A>T (p.Ser988Cys) c.269A>T c.3919A>T (p.Ser1307Cys) | |
11 | g.121137442G>A | CA383018235 | TBCEL-TECTA,TECTA | c.2963G>A (p.Ser988Asn) c.270G>A c.3920G>A (p.Ser1307Asn) | |
11 | g.121137442G>C | CA383018237 | TBCEL-TECTA,TECTA | c.2963G>C (p.Ser988Thr) c.270G>C c.3920G>C (p.Ser1307Thr) | |
11 | g.121137442G>T | CA383018238 | TBCEL-TECTA,TECTA | c.2963G>T (p.Ser988Ile) c.270G>T c.3920G>T (p.Ser1307Ile) | |
11 | g.121137443C>A | CA383018239 | TBCEL-TECTA,TECTA | c.2964C>A (p.Ser988Arg) c.271C>A c.3921C>A (p.Ser1307Arg) | |
11 | g.121137443C= | CA2004733643 | TBCEL-TECTA,TECTA | c.2964C= (p.Ser988=) c.271C= c.3921C= (p.Ser1307=) | |
11 | g.121137443C>G | CA383018241 | TBCEL-TECTA,TECTA | c.2964C>G (p.Ser988Arg) c.271C>G c.3921C>G (p.Ser1307Arg) | |
11 | g.121137443C>T | CA477382333 | TBCEL-TECTA,TECTA | c.2964C>T (p.Ser988=) c.271C>T c.3921C>T (p.Ser1307=) | dbSNP |
11 | g.121137444C>A | CA383018242 | TBCEL-TECTA,TECTA | c.2965C>A (p.His989Asn) c.272C>A c.3922C>A (p.His1308Asn) | |
11 | g.121137444C>G | CA383018244 | TBCEL-TECTA,TECTA | c.2965C>G (p.His989Asp) c.272C>G c.3922C>G (p.His1308Asp) | |
11 | g.121137444C>T | CA383018246 | TBCEL-TECTA,TECTA | c.2965C>T (p.His989Tyr) c.272C>T c.3922C>T (p.His1308Tyr) | |
11 | g.121137445A>C | CA383018248 | TBCEL-TECTA,TECTA | c.2966A>C (p.His989Pro) c.273A>C c.3923A>C (p.His1308Pro) | |
11 | g.121137445A>G | CA383018250 | TBCEL-TECTA,TECTA | c.2966A>G (p.His989Arg) c.273A>G c.3923A>G (p.His1308Arg) | |
11 | g.121137445A>T | CA383018252 | TBCEL-TECTA,TECTA | c.2966A>T (p.His989Leu) c.273A>T c.3923A>T (p.His1308Leu) | |
11 | g.121137446C>A | CA6327130 | TBCEL-TECTA,TECTA | c.2967C>A (p.His989Gln) c.274C>A c.3924C>A (p.His1308Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137446C= | CA2004733646 | TBCEL-TECTA,TECTA | c.2967C= (p.His989=) c.274C= c.3924C= (p.His1308=) | |
11 | g.121137446C>G | CA383018255 | TBCEL-TECTA,TECTA | c.2967C>G (p.His989Gln) c.274C>G c.3924C>G (p.His1308Gln) | |
11 | g.121137446C>T | CA477382341 | TBCEL-TECTA,TECTA | c.2967C>T (p.His989=) c.274C>T c.3924C>T (p.His1308=) | |
11 | g.121137447T>A | CA383018258 | TBCEL-TECTA,TECTA | c.2968T>A (p.Phe990Ile) c.275T>A c.3925T>A (p.Phe1309Ile) | |
11 | g.121137447T>C | CA383018260 | TBCEL-TECTA,TECTA | c.2968T>C (p.Phe990Leu) c.275T>C c.3925T>C (p.Phe1309Leu) | ClinVar |
11 | g.121137447T>G | CA383018262 | TBCEL-TECTA,TECTA | c.2968T>G (p.Phe990Val) c.275T>G c.3925T>G (p.Phe1309Val) | |
11 | g.121137448T>A | CA383018264 | TBCEL-TECTA,TECTA | c.2969T>A (p.Phe990Tyr) c.276T>A c.3926T>A (p.Phe1309Tyr) | |
11 | g.121137448T>C | CA383018266 | TBCEL-TECTA,TECTA | c.2969T>C (p.Phe990Ser) c.276T>C c.3926T>C (p.Phe1309Ser) | |
11 | g.121137448T>G | CA383018268 | TBCEL-TECTA,TECTA | c.2969T>G (p.Phe990Cys) c.276T>G c.3926T>G (p.Phe1309Cys) | dbSNP gnomAD v4 |
11 | g.121137448T= | CA2004733648 | TBCEL-TECTA,TECTA | c.2969T= (p.Phe990=) c.276T= c.3926T= (p.Phe1309=) | |
11 | g.121137449T>A | CA383018270 | TBCEL-TECTA,TECTA | c.2970T>A (p.Phe990Leu) c.277T>A c.3927T>A (p.Phe1309Leu) | gnomAD v4 |
11 | g.121137449T>C | CA477382342 | TBCEL-TECTA,TECTA | c.2970T>C (p.Phe990=) c.277T>C c.3927T>C (p.Phe1309=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121137449T>G | CA383018272 | TBCEL-TECTA,TECTA | c.2970T>G (p.Phe990Leu) c.277T>G c.3927T>G (p.Phe1309Leu) | |
11 | g.121137449T= | CA2004733650 | TBCEL-TECTA,TECTA | c.2970T= (p.Phe990=) c.277T= c.3927T= (p.Phe1309=) | |
11 | g.121137450G>A | CA383018274 | TBCEL-TECTA,TECTA | c.2971G>A (p.Glu991Lys) c.278G>A c.3928G>A (p.Glu1310Lys) | gnomAD v4 |
11 | g.121137450G>C | CA383018276 | TBCEL-TECTA,TECTA | c.2971G>C (p.Glu991Gln) c.278G>C c.3928G>C (p.Glu1310Gln) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.121137450G= | CA2004733652 | TBCEL-TECTA,TECTA | c.2971G= (p.Glu991=) c.278G= c.3928G= (p.Glu1310=) | |
11 | g.121137450G>T | CA383018277 | TBCEL-TECTA,TECTA | c.2971G>T (p.Glu991Ter) c.278G>T c.3928G>T (p.Glu1310Ter) | dbSNP |
11 | g.121137451A>C | CA383018280 | TBCEL-TECTA,TECTA | c.2972A>C (p.Glu991Ala) c.279A>C c.3929A>C (p.Glu1310Ala) | |
11 | g.121137451A>G | CA383018283 | TBCEL-TECTA,TECTA | c.2972A>G (p.Glu991Gly) c.279A>G c.3929A>G (p.Glu1310Gly) | |
11 | g.121137451A>T | CA383018281 | TBCEL-TECTA,TECTA | c.2972A>T (p.Glu991Val) c.279A>T c.3929A>T (p.Glu1310Val) | dbSNP COSMIC |
11 | g.121137452G>A | CA477382349 | TBCEL-TECTA,TECTA | c.2973G>A (p.Glu991=) c.280G>A c.3930G>A (p.Glu1310=) | |
11 | g.121137452G>C | CA383018286 | TBCEL-TECTA,TECTA | c.2973G>C (p.Glu991Asp) c.280G>C c.3930G>C (p.Glu1310Asp) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121137452G= | CA2004733654 | TBCEL-TECTA,TECTA | c.2973G= (p.Glu991=) c.280G= c.3930G= (p.Glu1310=) | |
11 | g.121137452G>T | CA383018287 | TBCEL-TECTA,TECTA | c.2973G>T (p.Glu991Asp) c.280G>T c.3930G>T (p.Glu1310Asp) | dbSNP gnomAD v4 |
11 | g.121137453G>A | CA383018288 | TBCEL-TECTA,TECTA | c.2974G>A (p.Glu992Lys) c.281G>A c.3931G>A (p.Glu1311Lys) | |
11 | g.121137453G>C | CA383018290 | TBCEL-TECTA,TECTA | c.2974G>C (p.Glu992Gln) c.281G>C c.3931G>C (p.Glu1311Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137453G= | CA2004733655 | TBCEL-TECTA,TECTA | c.2974G= (p.Glu992=) c.281G= c.3931G= (p.Glu1311=) | |
11 | g.121137453G>T | CA383018289 | TBCEL-TECTA,TECTA | c.2974G>T (p.Glu992Ter) c.281G>T c.3931G>T (p.Glu1311Ter) | |
11 | g.121137454A= | CA2004733657 | TBCEL-TECTA,TECTA | c.2975A= (p.Glu992=) c.282A= c.3932A= (p.Glu1311=) | |
11 | g.121137454A>C | CA383018292 | TBCEL-TECTA,TECTA | c.2975A>C (p.Glu992Ala) c.282A>C c.3932A>C (p.Glu1311Ala) | |
11 | g.121137454A>G | CA6327131 | TBCEL-TECTA,TECTA | c.2975A>G (p.Glu992Gly) c.282A>G c.3932A>G (p.Glu1311Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121137454A>T | CA383018294 | TBCEL-TECTA,TECTA | c.2975A>T (p.Glu992Val) c.282A>T c.3932A>T (p.Glu1311Val) | |
11 | g.121137455G>A | CA477382351 | TBCEL-TECTA,TECTA | c.2976G>A (p.Glu992=) c.283G>A c.3933G>A (p.Glu1311=) | dbSNP |
11 | g.121137455G>C | CA383018297 | TBCEL-TECTA,TECTA | c.2976G>C (p.Glu992Asp) c.283G>C c.3933G>C (p.Glu1311Asp) | |
11 | g.121137455G= | CA2004733658 | TBCEL-TECTA,TECTA | c.2976G= (p.Glu992=) c.283G= c.3933G= (p.Glu1311=) | |
11 | g.121137455G>T | CA383018299 | TBCEL-TECTA,TECTA | c.2976G>T (p.Glu992Asp) c.283G>T c.3933G>T (p.Glu1311Asp) | |
11 | g.121137456T>A | CA383018301 | TBCEL-TECTA,TECTA | c.2977T>A (p.Cys993Ser) c.284T>A c.3934T>A (p.Cys1312Ser) | |
11 | g.121137456T>C | CA383018303 | TBCEL-TECTA,TECTA | c.2977T>C (p.Cys993Arg) c.284T>C c.3934T>C (p.Cys1312Arg) | COSMIC |
11 | g.121137456T>G | CA383018305 | TBCEL-TECTA,TECTA | c.2977T>G (p.Cys993Gly) c.284T>G c.3934T>G (p.Cys1312Gly) | |
11 | g.121137457G>A | CA383018311 | TBCEL-TECTA,TECTA | c.2978G>A (p.Cys993Tyr) c.285G>A c.3935G>A (p.Cys1312Tyr) | COSMIC |
11 | g.121137457G>C | CA383018308 | TBCEL-TECTA,TECTA | c.2978G>C (p.Cys993Ser) c.285G>C c.3935G>C (p.Cys1312Ser) | |
11 | g.121137457G>T | CA383018306 | TBCEL-TECTA,TECTA | c.2978G>T (p.Cys993Phe) c.285G>T c.3935G>T (p.Cys1312Phe) | |
11 | g.121137458C>A | CA383018313 | TBCEL-TECTA,TECTA | c.2979C>A (p.Cys993Ter) c.286C>A c.3936C>A (p.Cys1312Ter) | |
11 | g.121137458C= | CA2004733660 | TBCEL-TECTA,TECTA | c.2979C= (p.Cys993=) c.286C= c.3936C= (p.Cys1312=) | |
11 | g.121137458C>G | CA383018315 | TBCEL-TECTA,TECTA | c.2979C>G (p.Cys993Trp) c.286C>G c.3936C>G (p.Cys1312Trp) | |
11 | g.121137458C>T | CA6327132 | TBCEL-TECTA,TECTA | c.2979C>T (p.Cys993=) c.286C>T c.3936C>T (p.Cys1312=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121137459A= | CA2004733662 | TBCEL-TECTA,TECTA | c.2980A= (p.Ile994=) c.287A= c.3937A= (p.Ile1313=) | |
11 | g.121137459A>C | CA383018319 | TBCEL-TECTA,TECTA | c.2980A>C (p.Ile994Leu) c.287A>C c.3937A>C (p.Ile1313Leu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121137459A>G | CA383018320 | TBCEL-TECTA,TECTA | c.2980A>G (p.Ile994Val) c.287A>G c.3937A>G (p.Ile1313Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121137459A>T | CA383018322 | TBCEL-TECTA,TECTA | c.2980A>T (p.Ile994Phe) c.287A>T c.3937A>T (p.Ile1313Phe) | |
11 | g.121137460T>A | CA383018325 | TBCEL-TECTA,TECTA | c.2981T>A (p.Ile994Asn) c.288T>A c.3938T>A (p.Ile1313Asn) | |
11 | g.121137460T>C | CA383018328 | TBCEL-TECTA,TECTA | c.2981T>C (p.Ile994Thr) c.288T>C c.3938T>C (p.Ile1313Thr) | |
11 | g.121137460T>G | CA383018327 | TBCEL-TECTA,TECTA | c.2981T>G (p.Ile994Ser) c.288T>G c.3938T>G (p.Ile1313Ser) | |
11 | g.121137461C>A | CA477382354 | TBCEL-TECTA,TECTA | c.2982C>A (p.Ile994=) c.289C>A c.3939C>A (p.Ile1313=) | |
11 | g.121137461C>G | CA383018331 | TBCEL-TECTA,TECTA | c.2982C>G (p.Ile994Met) c.289C>G c.3939C>G (p.Ile1313Met) | |
11 | g.121137461C>T | CA477382355 | TBCEL-TECTA,TECTA | c.2982C>T (p.Ile994=) c.289C>T c.3939C>T (p.Ile1313=) | COSMIC |
11 | g.121137462A>C | CA383018333 | TBCEL-TECTA,TECTA | c.2983A>C (p.Thr995Pro) c.290A>C c.3940A>C (p.Thr1314Pro) | gnomAD v4 |
11 | g.121137462A>G | CA383018335 | TBCEL-TECTA,TECTA | c.2983A>G (p.Thr995Ala) c.290A>G c.3940A>G (p.Thr1314Ala) | |
11 | g.121137462A>T | CA383018336 | TBCEL-TECTA,TECTA | c.2983A>T (p.Thr995Ser) c.290A>T c.3940A>T (p.Thr1314Ser) |