Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26475933_26475953del | CA2658237122 | OTOF | c.2953_2973del (p.Ala985_Asn991del) c.712_732del (p.Ala238_Asn244del) c.883_903del (p.Ala295_Asn301del) c.2998_3018del (p.Ala1000_Asn1006del) | gnomAD v4 |
2 | g.26475937_26475940delinsTGAA | CA1239827695 | OTOF | c.2965_2968delinsTTCA (p.Phe989=) c.724_727delinsTTCA (p.Phe242=) c.895_898delinsTTCA (p.Phe299=) c.3010_3013delinsTTCA (p.Phe1004=) | |
2 | g.26475938G>A | CA425359892 | OTOF | c.2967C>T (p.Phe989=) c.726C>T (p.Phe242=) c.897C>T (p.Phe299=) c.3012C>T (p.Phe1004=) | |
2 | g.26475938G>C | CA346112562 | OTOF | c.2967C>G (p.Phe989Leu) c.726C>G (p.Phe242Leu) c.897C>G (p.Phe299Leu) c.3012C>G (p.Phe1004Leu) | |
2 | g.26475938G>T | CA346112563 | OTOF | c.2967C>A (p.Phe989Leu) c.726C>A (p.Phe242Leu) c.897C>A (p.Phe299Leu) c.3012C>A (p.Phe1004Leu) | |
2 | g.26475943_26475945del | CA425359896 | OTOF | c.2965_2967del (p.Phe989del) c.724_726del (p.Phe242del) c.895_897del (p.Phe299del) c.3010_3012del (p.Phe1004del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.26475939A>C | CA346112566 | OTOF | c.2966T>G (p.Phe989Cys) c.725T>G (p.Phe242Cys) c.896T>G (p.Phe299Cys) c.3011T>G (p.Phe1004Cys) | |
2 | g.26475939A>G | CA346112568 | OTOF | c.2966T>C (p.Phe989Ser) c.725T>C (p.Phe242Ser) c.896T>C (p.Phe299Ser) c.3011T>C (p.Phe1004Ser) | |
2 | g.26475939A>T | CA346112570 | OTOF | c.2966T>A (p.Phe989Tyr) c.725T>A (p.Phe242Tyr) c.896T>A (p.Phe299Tyr) c.3011T>A (p.Phe1004Tyr) | |
2 | g.26475940A>C | CA346112572 | OTOF | c.2965T>G (p.Phe989Val) c.724T>G (p.Phe242Val) c.895T>G (p.Phe299Val) c.3010T>G (p.Phe1004Val) | |
2 | g.26475940A>G | CA346112583 | OTOF | c.2965T>C (p.Phe989Leu) c.724T>C (p.Phe242Leu) c.895T>C (p.Phe299Leu) c.3010T>C (p.Phe1004Leu) | |
2 | g.26475940A>T | CA346112598 | OTOF | c.2965T>A (p.Phe989Ile) c.724T>A (p.Phe242Ile) c.895T>A (p.Phe299Ile) c.3010T>A (p.Phe1004Ile) | gnomAD v4 |
2 | g.26475941G>A | CA425359903 | OTOF | c.2964C>T (p.Phe988=) c.723C>T (p.Phe241=) c.894C>T (p.Phe298=) c.3009C>T (p.Phe1003=) | ClinVar dbSNP |
2 | g.26475941G>C | CA1563713 | OTOF | c.2964C>G (p.Phe988Leu) c.723C>G (p.Phe241Leu) c.894C>G (p.Phe298Leu) c.3009C>G (p.Phe1003Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26475941G= | CA1239827698 | OTOF | c.2964C= (p.Phe988=) c.723C= (p.Phe241=) c.894C= (p.Phe298=) c.3009C= (p.Phe1003=) | |
2 | g.26475941G>T | CA346112607 | OTOF | c.2964C>A (p.Phe988Leu) c.723C>A (p.Phe241Leu) c.894C>A (p.Phe298Leu) c.3009C>A (p.Phe1003Leu) | |
2 | g.26475942A= | CA1239827699 | OTOF | c.2963T= (p.Phe988=) c.722T= (p.Phe241=) c.893T= (p.Phe298=) c.3008T= (p.Phe1003=) | |
2 | g.26475942A>C | CA1563714 | OTOF | c.2963T>G (p.Phe988Cys) c.722T>G (p.Phe241Cys) c.893T>G (p.Phe298Cys) c.3008T>G (p.Phe1003Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26475942A>G | CA346112609 | OTOF | c.2963T>C (p.Phe988Ser) c.722T>C (p.Phe241Ser) c.893T>C (p.Phe298Ser) c.3008T>C (p.Phe1003Ser) | |
2 | g.26475942A>T | CA346112612 | OTOF | c.2963T>A (p.Phe988Tyr) c.722T>A (p.Phe241Tyr) c.893T>A (p.Phe298Tyr) c.3008T>A (p.Phe1003Tyr) | |
2 | g.26475943A= | CA1239827701 | OTOF | c.2962T= (p.Phe988=) c.721T= (p.Phe241=) c.892T= (p.Phe298=) c.3007T= (p.Phe1003=) | |
2 | g.26475943A>C | CA44397821 | OTOF | c.2962T>G (p.Phe988Val) c.721T>G (p.Phe241Val) c.892T>G (p.Phe298Val) c.3007T>G (p.Phe1003Val) | dbSNP gnomAD v4 |
2 | g.26475943A>G | CA346112618 | OTOF | c.2962T>C (p.Phe988Leu) c.721T>C (p.Phe241Leu) c.892T>C (p.Phe298Leu) c.3007T>C (p.Phe1003Leu) | |
2 | g.26475943A>T | CA346112622 | OTOF | c.2962T>A (p.Phe988Ile) c.721T>A (p.Phe241Ile) c.892T>A (p.Phe298Ile) c.3007T>A (p.Phe1003Ile) | |
2 | g.26475944G>A | CA425359910 | OTOF | c.2961C>T (p.Val987=) c.720C>T (p.Val240=) c.891C>T (p.Val297=) c.3006C>T (p.Val1002=) | |
2 | g.26475944G>C | CA425359911 | OTOF | c.2961C>G (p.Val987=) c.720C>G (p.Val240=) c.891C>G (p.Val297=) c.3006C>G (p.Val1002=) | |
2 | g.26475944G>T | CA425359912 | OTOF | c.2961C>A (p.Val987=) c.720C>A (p.Val240=) c.891C>A (p.Val297=) c.3006C>A (p.Val1002=) | |
2 | g.26475945A>C | CA346112627 | OTOF | c.2960T>G (p.Val987Gly) c.719T>G (p.Val240Gly) c.890T>G (p.Val297Gly) c.3005T>G (p.Val1002Gly) | |
2 | g.26475945A>G | CA346112631 | OTOF | c.2960T>C (p.Val987Ala) c.719T>C (p.Val240Ala) c.890T>C (p.Val297Ala) c.3005T>C (p.Val1002Ala) | |
2 | g.26475945A>T | CA346112634 | OTOF | c.2960T>A (p.Val987Asp) c.719T>A (p.Val240Asp) c.890T>A (p.Val297Asp) c.3005T>A (p.Val1002Asp) | |
2 | g.26475946C>A | CA346112636 | OTOF | c.2959G>T (p.Val987Phe) c.718G>T (p.Val240Phe) c.889G>T (p.Val297Phe) c.3004G>T (p.Val1002Phe) | |
2 | g.26475946C= | CA1239827704 | OTOF | c.2959G= (p.Val987=) c.718G= (p.Val240=) c.889G= (p.Val297=) c.3004G= (p.Val1002=) | |
2 | g.26475946C>G | CA346112640 | OTOF | c.2959G>C (p.Val987Leu) c.718G>C (p.Val240Leu) c.889G>C (p.Val297Leu) c.3004G>C (p.Val1002Leu) | |
2 | g.26475946C>T | CA1563715 | OTOF | c.2959G>A (p.Val987Ile) c.718G>A (p.Val240Ile) c.889G>A (p.Val297Ile) c.3004G>A (p.Val1002Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.26475947G>A | CA44397825 | OTOF | c.2958C>T (p.Arg986=) c.717C>T (p.Arg239=) c.888C>T (p.Arg296=) c.3003C>T (p.Arg1001=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.26475947G>C | CA425359917 | OTOF | c.2958C>G (p.Arg986=) c.717C>G (p.Arg239=) c.888C>G (p.Arg296=) c.3003C>G (p.Arg1001=) | |
2 | g.26475947G= | CA1239827706 | OTOF | c.2958C= (p.Arg986=) c.717C= (p.Arg239=) c.888C= (p.Arg296=) c.3003C= (p.Arg1001=) | |
2 | g.26475947G>T | CA44397827 | OTOF | c.2958C>A (p.Arg986=) c.717C>A (p.Arg239=) c.888C>A (p.Arg296=) c.3003C>A (p.Arg1001=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26475948C>A | CA346112644 | OTOF | c.2957G>T (p.Arg986Leu) c.716G>T (p.Arg239Leu) c.887G>T (p.Arg296Leu) c.3002G>T (p.Arg1001Leu) | dbSNP |
2 | g.26475948C= | CA1239827708 | OTOF | c.2957G= (p.Arg986=) c.716G= (p.Arg239=) c.887G= (p.Arg296=) c.3002G= (p.Arg1001=) | |
2 | g.26475948C>G | CA346112643 | OTOF | c.2957G>C (p.Arg986Pro) c.716G>C (p.Arg239Pro) c.887G>C (p.Arg296Pro) c.3002G>C (p.Arg1001Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26475948C>T | CA1563716 | OTOF | c.2957G>A (p.Arg986His) c.716G>A (p.Arg239His) c.887G>A (p.Arg296His) c.3002G>A (p.Arg1001His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26475949G>A | CA1563717 | OTOF | c.2956C>T (p.Arg986Cys) c.715C>T (p.Arg239Cys) c.886C>T (p.Arg296Cys) c.3001C>T (p.Arg1001Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26475949G>C | CA346112650 | OTOF | c.2956C>G (p.Arg986Gly) c.715C>G (p.Arg239Gly) c.886C>G (p.Arg296Gly) c.3001C>G (p.Arg1001Gly) | dbSNP gnomAD v4 |
2 | g.26475949G= | CA1239827711 | OTOF | c.2956C= (p.Arg986=) c.715C= (p.Arg239=) c.886C= (p.Arg296=) c.3001C= (p.Arg1001=) | |
2 | g.26475949G>T | CA346112654 | OTOF | c.2956C>A (p.Arg986Ser) c.715C>A (p.Arg239Ser) c.886C>A (p.Arg296Ser) c.3001C>A (p.Arg1001Ser) | |
2 | g.26475951del | CA2697547882 | OTOF | c.2956del (p.Arg986AlafsTer14) c.715del (p.Arg239AlafsTer14) c.886del (p.Arg296AlafsTer14) c.3001del (p.Arg1001AlafsTer14) | ClinVar |
2 | g.26475950G>A | CA1563718 | OTOF | c.2955C>T (p.Ala985=) c.714C>T (p.Ala238=) c.885C>T (p.Ala295=) c.3000C>T (p.Ala1000=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26475950G>C | CA425359921 | OTOF | c.2955C>G (p.Ala985=) c.714C>G (p.Ala238=) c.885C>G (p.Ala295=) c.3000C>G (p.Ala1000=) | |
2 | g.26475950G= | CA1239827713 | OTOF | c.2955C= (p.Ala985=) c.714C= (p.Ala238=) c.885C= (p.Ala295=) c.3000C= (p.Ala1000=) |