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 |
|---|---|---|---|---|---|
| 17 | g.39725132C>A | CA499890169 | ERBB2 | c.2577C>A (p.Val859=) c.2487C>A (p.Val829=) c.1749C>A (p.Val583=) c.2532C>A (p.Val844=) c.*2367C>A (n.*2367C>A) c.683C>A n.3711C>A n.2901C>A c.2715C>A (p.Val905=) c.2670C>A (p.Val890=) c.2625C>A (p.Val875=) c.2694C>A (p.Val898=) c.2679C>A (p.Val893=) c.2658C>A (p.Val886=) c.2652C>A (p.Val884=) c.2607C>A (p.Val869=) c.2598C>A (p.Val866=) c.2574C>A (p.Val858=) c.2568C>A (p.Val856=) c.2541C>A (p.Val847=) c.2535C>A (p.Val845=) c.2529C>A (p.Val843=) c.2478C>A (p.Val826=) c.2494-195C>A (n.2494-195C>A) c.2397C>A (p.Val799=) c.2391C>A (p.Val797=) c.2446-195C>A (n.2446-195C>A) c.2319C>A (p.Val773=) c.2208+1472C>A (n.2208+1472C>A) c.1539C>A (p.Val513=) n.2815C>A | dbSNP |
| 17 | g.39725132C= | CA2259228146 | ERBB2 | c.2577C= (p.Val859=) c.2487C= (p.Val829=) c.1749C= (p.Val583=) c.2532C= (p.Val844=) c.*2367C= (n.*2367C=) c.683C= n.3711C= n.2901C= c.2715C= (p.Val905=) c.2670C= (p.Val890=) c.2625C= (p.Val875=) c.2694C= (p.Val898=) c.2679C= (p.Val893=) c.2658C= (p.Val886=) c.2652C= (p.Val884=) c.2607C= (p.Val869=) c.2598C= (p.Val866=) c.2574C= (p.Val858=) c.2568C= (p.Val856=) c.2541C= (p.Val847=) c.2535C= (p.Val845=) c.2529C= (p.Val843=) c.2478C= (p.Val826=) c.2494-195C= (n.2494-195C=) c.2397C= (p.Val799=) c.2391C= (p.Val797=) c.2446-195C= (n.2446-195C=) c.2319C= (p.Val773=) c.2208+1472C= (n.2208+1472C=) c.1539C= (p.Val513=) n.2815C= | |
| 17 | g.39725132C>G | CA499890164 | ERBB2 | c.2577C>G (p.Val859=) c.2487C>G (p.Val829=) c.1749C>G (p.Val583=) c.2532C>G (p.Val844=) c.*2367C>G (n.*2367C>G) c.683C>G n.3711C>G n.2901C>G c.2715C>G (p.Val905=) c.2670C>G (p.Val890=) c.2625C>G (p.Val875=) c.2694C>G (p.Val898=) c.2679C>G (p.Val893=) c.2658C>G (p.Val886=) c.2652C>G (p.Val884=) c.2607C>G (p.Val869=) c.2598C>G (p.Val866=) c.2574C>G (p.Val858=) c.2568C>G (p.Val856=) c.2541C>G (p.Val847=) c.2535C>G (p.Val845=) c.2529C>G (p.Val843=) c.2478C>G (p.Val826=) c.2494-195C>G (n.2494-195C>G) c.2397C>G (p.Val799=) c.2391C>G (p.Val797=) c.2446-195C>G (n.2446-195C>G) c.2319C>G (p.Val773=) c.2208+1472C>G (n.2208+1472C>G) c.1539C>G (p.Val513=) n.2815C>G | dbSNP |
| 17 | g.39725132C>T | CA499890167 | ERBB2 | c.2577C>T (p.Val859=) c.2487C>T (p.Val829=) c.1749C>T (p.Val583=) c.2532C>T (p.Val844=) c.*2367C>T (n.*2367C>T) c.683C>T n.3711C>T n.2901C>T c.2715C>T (p.Val905=) c.2670C>T (p.Val890=) c.2625C>T (p.Val875=) c.2694C>T (p.Val898=) c.2679C>T (p.Val893=) c.2658C>T (p.Val886=) c.2652C>T (p.Val884=) c.2607C>T (p.Val869=) c.2598C>T (p.Val866=) c.2574C>T (p.Val858=) c.2568C>T (p.Val856=) c.2541C>T (p.Val847=) c.2535C>T (p.Val845=) c.2529C>T (p.Val843=) c.2478C>T (p.Val826=) c.2494-195C>T (n.2494-195C>T) c.2397C>T (p.Val799=) c.2391C>T (p.Val797=) c.2446-195C>T (n.2446-195C>T) c.2319C>T (p.Val773=) c.2208+1472C>T (n.2208+1472C>T) c.1539C>T (p.Val513=) n.2815C>T | dbSNP gnomAD v4 |
| 17 | g.39725133A>C | CA399304694 | ERBB2 | c.2578A>C (p.Lys860Gln) c.2488A>C (p.Lys830Gln) c.1750A>C (p.Lys584Gln) c.2533A>C (p.Lys845Gln) c.*2368A>C (n.*2368A>C) c.684A>C n.3712A>C n.2902A>C c.2716A>C (p.Lys906Gln) c.2671A>C (p.Lys891Gln) c.2626A>C (p.Lys876Gln) c.2695A>C (p.Lys899Gln) c.2680A>C (p.Lys894Gln) c.2659A>C (p.Lys887Gln) c.2653A>C (p.Lys885Gln) c.2608A>C (p.Lys870Gln) c.2599A>C (p.Lys867Gln) c.2575A>C (p.Lys859Gln) c.2569A>C (p.Lys857Gln) c.2542A>C (p.Lys848Gln) c.2536A>C (p.Lys846Gln) c.2530A>C (p.Lys844Gln) c.2479A>C (p.Lys827Gln) c.2494-194A>C (n.2494-194A>C) c.2398A>C (p.Lys800Gln) c.2392A>C (p.Lys798Gln) c.2446-194A>C (n.2446-194A>C) c.2320A>C (p.Lys774Gln) c.2208+1473A>C (n.2208+1473A>C) c.1540A>C (p.Lys514Gln) n.2816A>C | |
| 17 | g.39725133A>G | CA399304696 | ERBB2 | c.2578A>G (p.Lys860Glu) c.2488A>G (p.Lys830Glu) c.1750A>G (p.Lys584Glu) c.2533A>G (p.Lys845Glu) c.*2368A>G (n.*2368A>G) c.684A>G n.3712A>G n.2902A>G c.2716A>G (p.Lys906Glu) c.2671A>G (p.Lys891Glu) c.2626A>G (p.Lys876Glu) c.2695A>G (p.Lys899Glu) c.2680A>G (p.Lys894Glu) c.2659A>G (p.Lys887Glu) c.2653A>G (p.Lys885Glu) c.2608A>G (p.Lys870Glu) c.2599A>G (p.Lys867Glu) c.2575A>G (p.Lys859Glu) c.2569A>G (p.Lys857Glu) c.2542A>G (p.Lys848Glu) c.2536A>G (p.Lys846Glu) c.2530A>G (p.Lys844Glu) c.2479A>G (p.Lys827Glu) c.2494-194A>G (n.2494-194A>G) c.2398A>G (p.Lys800Glu) c.2392A>G (p.Lys798Glu) c.2446-194A>G (n.2446-194A>G) c.2320A>G (p.Lys774Glu) c.2208+1473A>G (n.2208+1473A>G) c.1540A>G (p.Lys514Glu) n.2816A>G | dbSNP |
| 17 | g.39725133A>T | CA399304700 | ERBB2 | c.2578A>T (p.Lys860Ter) c.2488A>T (p.Lys830Ter) c.1750A>T (p.Lys584Ter) c.2533A>T (p.Lys845Ter) c.*2368A>T (n.*2368A>T) c.684A>T n.3712A>T n.2902A>T c.2716A>T (p.Lys906Ter) c.2671A>T (p.Lys891Ter) c.2626A>T (p.Lys876Ter) c.2695A>T (p.Lys899Ter) c.2680A>T (p.Lys894Ter) c.2659A>T (p.Lys887Ter) c.2653A>T (p.Lys885Ter) c.2608A>T (p.Lys870Ter) c.2599A>T (p.Lys867Ter) c.2575A>T (p.Lys859Ter) c.2569A>T (p.Lys857Ter) c.2542A>T (p.Lys848Ter) c.2536A>T (p.Lys846Ter) c.2530A>T (p.Lys844Ter) c.2479A>T (p.Lys827Ter) c.2494-194A>T (n.2494-194A>T) c.2398A>T (p.Lys800Ter) c.2392A>T (p.Lys798Ter) c.2446-194A>T (n.2446-194A>T) c.2320A>T (p.Lys774Ter) c.2208+1473A>T (n.2208+1473A>T) c.1540A>T (p.Lys514Ter) n.2816A>T | dbSNP COSMIC |
| 17 | g.39725134A= | CA2259228147 | ERBB2 | c.2579A= (p.Lys860=) c.2489A= (p.Lys830=) c.1751A= (p.Lys584=) c.2534A= (p.Lys845=) c.*2369A= (n.*2369A=) c.685A= n.3713A= n.2903A= c.2717A= (p.Lys906=) c.2672A= (p.Lys891=) c.2627A= (p.Lys876=) c.2696A= (p.Lys899=) c.2681A= (p.Lys894=) c.2660A= (p.Lys887=) c.2654A= (p.Lys885=) c.2609A= (p.Lys870=) c.2600A= (p.Lys867=) c.2576A= (p.Lys859=) c.2570A= (p.Lys857=) c.2543A= (p.Lys848=) c.2537A= (p.Lys846=) c.2531A= (p.Lys844=) c.2480A= (p.Lys827=) c.2494-193A= (n.2494-193A=) c.2399A= (p.Lys800=) c.2393A= (p.Lys798=) c.2446-193A= (n.2446-193A=) c.2321A= (p.Lys774=) c.2208+1474A= (n.2208+1474A=) c.1541A= (p.Lys514=) n.2817A= | |
| 17 | g.39725134A>C | CA399304706 | ERBB2 | c.2579A>C (p.Lys860Thr) c.2489A>C (p.Lys830Thr) c.1751A>C (p.Lys584Thr) c.2534A>C (p.Lys845Thr) c.*2369A>C (n.*2369A>C) c.685A>C n.3713A>C n.2903A>C c.2717A>C (p.Lys906Thr) c.2672A>C (p.Lys891Thr) c.2627A>C (p.Lys876Thr) c.2696A>C (p.Lys899Thr) c.2681A>C (p.Lys894Thr) c.2660A>C (p.Lys887Thr) c.2654A>C (p.Lys885Thr) c.2609A>C (p.Lys870Thr) c.2600A>C (p.Lys867Thr) c.2576A>C (p.Lys859Thr) c.2570A>C (p.Lys857Thr) c.2543A>C (p.Lys848Thr) c.2537A>C (p.Lys846Thr) c.2531A>C (p.Lys844Thr) c.2480A>C (p.Lys827Thr) c.2494-193A>C (n.2494-193A>C) c.2399A>C (p.Lys800Thr) c.2393A>C (p.Lys798Thr) c.2446-193A>C (n.2446-193A>C) c.2321A>C (p.Lys774Thr) c.2208+1474A>C (n.2208+1474A>C) c.1541A>C (p.Lys514Thr) n.2817A>C | |
| 17 | g.39725134A>G | CA399304707 | ERBB2 | c.2579A>G (p.Lys860Arg) c.2489A>G (p.Lys830Arg) c.1751A>G (p.Lys584Arg) c.2534A>G (p.Lys845Arg) c.*2369A>G (n.*2369A>G) c.685A>G n.3713A>G n.2903A>G c.2717A>G (p.Lys906Arg) c.2672A>G (p.Lys891Arg) c.2627A>G (p.Lys876Arg) c.2696A>G (p.Lys899Arg) c.2681A>G (p.Lys894Arg) c.2660A>G (p.Lys887Arg) c.2654A>G (p.Lys885Arg) c.2609A>G (p.Lys870Arg) c.2600A>G (p.Lys867Arg) c.2576A>G (p.Lys859Arg) c.2570A>G (p.Lys857Arg) c.2543A>G (p.Lys848Arg) c.2537A>G (p.Lys846Arg) c.2531A>G (p.Lys844Arg) c.2480A>G (p.Lys827Arg) c.2494-193A>G (n.2494-193A>G) c.2399A>G (p.Lys800Arg) c.2393A>G (p.Lys798Arg) c.2446-193A>G (n.2446-193A>G) c.2321A>G (p.Lys774Arg) c.2208+1474A>G (n.2208+1474A>G) c.1541A>G (p.Lys514Arg) n.2817A>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39725134A>T | CA399304710 | ERBB2 | c.2579A>T (p.Lys860Ile) c.2489A>T (p.Lys830Ile) c.1751A>T (p.Lys584Ile) c.2534A>T (p.Lys845Ile) c.*2369A>T (n.*2369A>T) c.685A>T n.3713A>T n.2903A>T c.2717A>T (p.Lys906Ile) c.2672A>T (p.Lys891Ile) c.2627A>T (p.Lys876Ile) c.2696A>T (p.Lys899Ile) c.2681A>T (p.Lys894Ile) c.2660A>T (p.Lys887Ile) c.2654A>T (p.Lys885Ile) c.2609A>T (p.Lys870Ile) c.2600A>T (p.Lys867Ile) c.2576A>T (p.Lys859Ile) c.2570A>T (p.Lys857Ile) c.2543A>T (p.Lys848Ile) c.2537A>T (p.Lys846Ile) c.2531A>T (p.Lys844Ile) c.2480A>T (p.Lys827Ile) c.2494-193A>T (n.2494-193A>T) c.2399A>T (p.Lys800Ile) c.2393A>T (p.Lys798Ile) c.2446-193A>T (n.2446-193A>T) c.2321A>T (p.Lys774Ile) c.2208+1474A>T (n.2208+1474A>T) c.1541A>T (p.Lys514Ile) n.2817A>T | dbSNP |
| 17 | g.39725135A>C | CA399304714 | ERBB2 | c.2580A>C (p.Lys860Asn) c.2490A>C (p.Lys830Asn) c.1752A>C (p.Lys584Asn) c.2535A>C (p.Lys845Asn) c.*2370A>C (n.*2370A>C) c.686A>C n.3714A>C n.2904A>C c.2718A>C (p.Lys906Asn) c.2673A>C (p.Lys891Asn) c.2628A>C (p.Lys876Asn) c.2697A>C (p.Lys899Asn) c.2682A>C (p.Lys894Asn) c.2661A>C (p.Lys887Asn) c.2655A>C (p.Lys885Asn) c.2610A>C (p.Lys870Asn) c.2601A>C (p.Lys867Asn) c.2577A>C (p.Lys859Asn) c.2571A>C (p.Lys857Asn) c.2544A>C (p.Lys848Asn) c.2538A>C (p.Lys846Asn) c.2532A>C (p.Lys844Asn) c.2481A>C (p.Lys827Asn) c.2494-192A>C (n.2494-192A>C) c.2400A>C (p.Lys800Asn) c.2394A>C (p.Lys798Asn) c.2446-192A>C (n.2446-192A>C) c.2322A>C (p.Lys774Asn) c.2208+1475A>C (n.2208+1475A>C) c.1542A>C (p.Lys514Asn) n.2818A>C | dbSNP |
| 17 | g.39725135A>G | CA499890171 | ERBB2 | c.2580A>G (p.Lys860=) c.2490A>G (p.Lys830=) c.1752A>G (p.Lys584=) c.2535A>G (p.Lys845=) c.*2370A>G (n.*2370A>G) c.686A>G n.3714A>G n.2904A>G c.2718A>G (p.Lys906=) c.2673A>G (p.Lys891=) c.2628A>G (p.Lys876=) c.2697A>G (p.Lys899=) c.2682A>G (p.Lys894=) c.2661A>G (p.Lys887=) c.2655A>G (p.Lys885=) c.2610A>G (p.Lys870=) c.2601A>G (p.Lys867=) c.2577A>G (p.Lys859=) c.2571A>G (p.Lys857=) c.2544A>G (p.Lys848=) c.2538A>G (p.Lys846=) c.2532A>G (p.Lys844=) c.2481A>G (p.Lys827=) c.2494-192A>G (n.2494-192A>G) c.2400A>G (p.Lys800=) c.2394A>G (p.Lys798=) c.2446-192A>G (n.2446-192A>G) c.2322A>G (p.Lys774=) c.2208+1475A>G (n.2208+1475A>G) c.1542A>G (p.Lys514=) n.2818A>G | dbSNP |
| 17 | g.39725135A>T | CA399304718 | ERBB2 | c.2580A>T (p.Lys860Asn) c.2490A>T (p.Lys830Asn) c.1752A>T (p.Lys584Asn) c.2535A>T (p.Lys845Asn) c.*2370A>T (n.*2370A>T) c.686A>T n.3714A>T n.2904A>T c.2718A>T (p.Lys906Asn) c.2673A>T (p.Lys891Asn) c.2628A>T (p.Lys876Asn) c.2697A>T (p.Lys899Asn) c.2682A>T (p.Lys894Asn) c.2661A>T (p.Lys887Asn) c.2655A>T (p.Lys885Asn) c.2610A>T (p.Lys870Asn) c.2601A>T (p.Lys867Asn) c.2577A>T (p.Lys859Asn) c.2571A>T (p.Lys857Asn) c.2544A>T (p.Lys848Asn) c.2538A>T (p.Lys846Asn) c.2532A>T (p.Lys844Asn) c.2481A>T (p.Lys827Asn) c.2494-192A>T (n.2494-192A>T) c.2400A>T (p.Lys800Asn) c.2394A>T (p.Lys798Asn) c.2446-192A>T (n.2446-192A>T) c.2322A>T (p.Lys774Asn) c.2208+1475A>T (n.2208+1475A>T) c.1542A>T (p.Lys514Asn) n.2818A>T | dbSNP gnomAD v4 |
| 17 | g.39725136A>C | CA399304719 | ERBB2 | c.2581A>C (p.Ile861Leu) c.2491A>C (p.Ile831Leu) c.1753A>C (p.Ile585Leu) c.2536A>C (p.Ile846Leu) c.*2371A>C (n.*2371A>C) c.687A>C n.3715A>C n.2905A>C c.2719A>C (p.Ile907Leu) c.2674A>C (p.Ile892Leu) c.2629A>C (p.Ile877Leu) c.2698A>C (p.Ile900Leu) c.2683A>C (p.Ile895Leu) c.2662A>C (p.Ile888Leu) c.2656A>C (p.Ile886Leu) c.2611A>C (p.Ile871Leu) c.2602A>C (p.Ile868Leu) c.2578A>C (p.Ile860Leu) c.2572A>C (p.Ile858Leu) c.2545A>C (p.Ile849Leu) c.2539A>C (p.Ile847Leu) c.2533A>C (p.Ile845Leu) c.2482A>C (p.Ile828Leu) c.2494-191A>C (n.2494-191A>C) c.2401A>C (p.Ile801Leu) c.2395A>C (p.Ile799Leu) c.2446-191A>C (n.2446-191A>C) c.2323A>C (p.Ile775Leu) c.2208+1476A>C (n.2208+1476A>C) c.1543A>C (p.Ile515Leu) n.2819A>C | |
| 17 | g.39725136A>G | CA399304720 | ERBB2 | c.2581A>G (p.Ile861Val) c.2491A>G (p.Ile831Val) c.1753A>G (p.Ile585Val) c.2536A>G (p.Ile846Val) c.*2371A>G (n.*2371A>G) c.687A>G n.3715A>G n.2905A>G c.2719A>G (p.Ile907Val) c.2674A>G (p.Ile892Val) c.2629A>G (p.Ile877Val) c.2698A>G (p.Ile900Val) c.2683A>G (p.Ile895Val) c.2662A>G (p.Ile888Val) c.2656A>G (p.Ile886Val) c.2611A>G (p.Ile871Val) c.2602A>G (p.Ile868Val) c.2578A>G (p.Ile860Val) c.2572A>G (p.Ile858Val) c.2545A>G (p.Ile849Val) c.2539A>G (p.Ile847Val) c.2533A>G (p.Ile845Val) c.2482A>G (p.Ile828Val) c.2494-191A>G (n.2494-191A>G) c.2401A>G (p.Ile801Val) c.2395A>G (p.Ile799Val) c.2446-191A>G (n.2446-191A>G) c.2323A>G (p.Ile775Val) c.2208+1476A>G (n.2208+1476A>G) c.1543A>G (p.Ile515Val) n.2819A>G | |
| 17 | g.39725136A>T | CA399304721 | ERBB2 | c.2581A>T (p.Ile861Phe) c.2491A>T (p.Ile831Phe) c.1753A>T (p.Ile585Phe) c.2536A>T (p.Ile846Phe) c.*2371A>T (n.*2371A>T) c.687A>T n.3715A>T n.2905A>T c.2719A>T (p.Ile907Phe) c.2674A>T (p.Ile892Phe) c.2629A>T (p.Ile877Phe) c.2698A>T (p.Ile900Phe) c.2683A>T (p.Ile895Phe) c.2662A>T (p.Ile888Phe) c.2656A>T (p.Ile886Phe) c.2611A>T (p.Ile871Phe) c.2602A>T (p.Ile868Phe) c.2578A>T (p.Ile860Phe) c.2572A>T (p.Ile858Phe) c.2545A>T (p.Ile849Phe) c.2539A>T (p.Ile847Phe) c.2533A>T (p.Ile845Phe) c.2482A>T (p.Ile828Phe) c.2494-191A>T (n.2494-191A>T) c.2401A>T (p.Ile801Phe) c.2395A>T (p.Ile799Phe) c.2446-191A>T (n.2446-191A>T) c.2323A>T (p.Ile775Phe) c.2208+1476A>T (n.2208+1476A>T) c.1543A>T (p.Ile515Phe) n.2819A>T | |
| 17 | g.39725137T>A | CA399304728 | ERBB2 | c.2582T>A (p.Ile861Asn) c.2492T>A (p.Ile831Asn) c.1754T>A (p.Ile585Asn) c.2537T>A (p.Ile846Asn) c.*2372T>A (n.*2372T>A) c.688T>A n.3716T>A n.2906T>A c.2720T>A (p.Ile907Asn) c.2675T>A (p.Ile892Asn) c.2630T>A (p.Ile877Asn) c.2699T>A (p.Ile900Asn) c.2684T>A (p.Ile895Asn) c.2663T>A (p.Ile888Asn) c.2657T>A (p.Ile886Asn) c.2612T>A (p.Ile871Asn) c.2603T>A (p.Ile868Asn) c.2579T>A (p.Ile860Asn) c.2573T>A (p.Ile858Asn) c.2546T>A (p.Ile849Asn) c.2540T>A (p.Ile847Asn) c.2534T>A (p.Ile845Asn) c.2483T>A (p.Ile828Asn) c.2494-190T>A (n.2494-190T>A) c.2402T>A (p.Ile801Asn) c.2396T>A (p.Ile799Asn) c.2446-190T>A (n.2446-190T>A) c.2324T>A (p.Ile775Asn) c.2208+1477T>A (n.2208+1477T>A) c.1544T>A (p.Ile515Asn) n.2820T>A | dbSNP |
| 17 | g.39725137T>C | CA399304724 | ERBB2 | c.2582T>C (p.Ile861Thr) c.2492T>C (p.Ile831Thr) c.1754T>C (p.Ile585Thr) c.2537T>C (p.Ile846Thr) c.*2372T>C (n.*2372T>C) c.688T>C n.3716T>C n.2906T>C c.2720T>C (p.Ile907Thr) c.2675T>C (p.Ile892Thr) c.2630T>C (p.Ile877Thr) c.2699T>C (p.Ile900Thr) c.2684T>C (p.Ile895Thr) c.2663T>C (p.Ile888Thr) c.2657T>C (p.Ile886Thr) c.2612T>C (p.Ile871Thr) c.2603T>C (p.Ile868Thr) c.2579T>C (p.Ile860Thr) c.2573T>C (p.Ile858Thr) c.2546T>C (p.Ile849Thr) c.2540T>C (p.Ile847Thr) c.2534T>C (p.Ile845Thr) c.2483T>C (p.Ile828Thr) c.2494-190T>C (n.2494-190T>C) c.2402T>C (p.Ile801Thr) c.2396T>C (p.Ile799Thr) c.2446-190T>C (n.2446-190T>C) c.2324T>C (p.Ile775Thr) c.2208+1477T>C (n.2208+1477T>C) c.1544T>C (p.Ile515Thr) n.2820T>C | dbSNP |
| 17 | g.39725137T>G | CA399304722 | ERBB2 | c.2582T>G (p.Ile861Ser) c.2492T>G (p.Ile831Ser) c.1754T>G (p.Ile585Ser) c.2537T>G (p.Ile846Ser) c.*2372T>G (n.*2372T>G) c.688T>G n.3716T>G n.2906T>G c.2720T>G (p.Ile907Ser) c.2675T>G (p.Ile892Ser) c.2630T>G (p.Ile877Ser) c.2699T>G (p.Ile900Ser) c.2684T>G (p.Ile895Ser) c.2663T>G (p.Ile888Ser) c.2657T>G (p.Ile886Ser) c.2612T>G (p.Ile871Ser) c.2603T>G (p.Ile868Ser) c.2579T>G (p.Ile860Ser) c.2573T>G (p.Ile858Ser) c.2546T>G (p.Ile849Ser) c.2540T>G (p.Ile847Ser) c.2534T>G (p.Ile845Ser) c.2483T>G (p.Ile828Ser) c.2494-190T>G (n.2494-190T>G) c.2402T>G (p.Ile801Ser) c.2396T>G (p.Ile799Ser) c.2446-190T>G (n.2446-190T>G) c.2324T>G (p.Ile775Ser) c.2208+1477T>G (n.2208+1477T>G) c.1544T>G (p.Ile515Ser) n.2820T>G | |
| 17 | g.39725138T>A | CA499890172 | ERBB2 | c.2583T>A (p.Ile861=) c.2493T>A (p.Ile831=) c.1755T>A (p.Ile585=) c.2538T>A (p.Ile846=) c.*2373T>A (n.*2373T>A) c.689T>A n.3717T>A n.2907T>A c.2721T>A (p.Ile907=) c.2676T>A (p.Ile892=) c.2631T>A (p.Ile877=) c.2700T>A (p.Ile900=) c.2685T>A (p.Ile895=) c.2664T>A (p.Ile888=) c.2658T>A (p.Ile886=) c.2613T>A (p.Ile871=) c.2604T>A (p.Ile868=) c.2580T>A (p.Ile860=) c.2574T>A (p.Ile858=) c.2547T>A (p.Ile849=) c.2541T>A (p.Ile847=) c.2535T>A (p.Ile845=) c.2484T>A (p.Ile828=) c.2494-189T>A (n.2494-189T>A) c.2403T>A (p.Ile801=) c.2397T>A (p.Ile799=) c.2446-189T>A (n.2446-189T>A) c.2325T>A (p.Ile775=) c.2208+1478T>A (n.2208+1478T>A) c.1545T>A (p.Ile515=) n.2821T>A | dbSNP |
| 17 | g.39725138T>C | CA499890173 | ERBB2 | c.2583T>C (p.Ile861=) c.2493T>C (p.Ile831=) c.1755T>C (p.Ile585=) c.2538T>C (p.Ile846=) c.*2373T>C (n.*2373T>C) c.689T>C n.3717T>C n.2907T>C c.2721T>C (p.Ile907=) c.2676T>C (p.Ile892=) c.2631T>C (p.Ile877=) c.2700T>C (p.Ile900=) c.2685T>C (p.Ile895=) c.2664T>C (p.Ile888=) c.2658T>C (p.Ile886=) c.2613T>C (p.Ile871=) c.2604T>C (p.Ile868=) c.2580T>C (p.Ile860=) c.2574T>C (p.Ile858=) c.2547T>C (p.Ile849=) c.2541T>C (p.Ile847=) c.2535T>C (p.Ile845=) c.2484T>C (p.Ile828=) c.2494-189T>C (n.2494-189T>C) c.2403T>C (p.Ile801=) c.2397T>C (p.Ile799=) c.2446-189T>C (n.2446-189T>C) c.2325T>C (p.Ile775=) c.2208+1478T>C (n.2208+1478T>C) c.1545T>C (p.Ile515=) n.2821T>C | dbSNP |
| 17 | g.39725138T>G | CA399304731 | ERBB2 | c.2583T>G (p.Ile861Met) c.2493T>G (p.Ile831Met) c.1755T>G (p.Ile585Met) c.2538T>G (p.Ile846Met) c.*2373T>G (n.*2373T>G) c.689T>G n.3717T>G n.2907T>G c.2721T>G (p.Ile907Met) c.2676T>G (p.Ile892Met) c.2631T>G (p.Ile877Met) c.2700T>G (p.Ile900Met) c.2685T>G (p.Ile895Met) c.2664T>G (p.Ile888Met) c.2658T>G (p.Ile886Met) c.2613T>G (p.Ile871Met) c.2604T>G (p.Ile868Met) c.2580T>G (p.Ile860Met) c.2574T>G (p.Ile858Met) c.2547T>G (p.Ile849Met) c.2541T>G (p.Ile847Met) c.2535T>G (p.Ile845Met) c.2484T>G (p.Ile828Met) c.2494-189T>G (n.2494-189T>G) c.2403T>G (p.Ile801Met) c.2397T>G (p.Ile799Met) c.2446-189T>G (n.2446-189T>G) c.2325T>G (p.Ile775Met) c.2208+1478T>G (n.2208+1478T>G) c.1545T>G (p.Ile515Met) n.2821T>G | |
| 17 | g.39725139A>C | CA399304734 | ERBB2 | c.2584A>C (p.Thr862Pro) c.2494A>C (p.Thr832Pro) c.1756A>C (p.Thr586Pro) c.2539A>C (p.Thr847Pro) c.*2374A>C (n.*2374A>C) c.690A>C n.3718A>C n.2908A>C c.2722A>C (p.Thr908Pro) c.2677A>C (p.Thr893Pro) c.2632A>C (p.Thr878Pro) c.2701A>C (p.Thr901Pro) c.2686A>C (p.Thr896Pro) c.2665A>C (p.Thr889Pro) c.2659A>C (p.Thr887Pro) c.2614A>C (p.Thr872Pro) c.2605A>C (p.Thr869Pro) c.2581A>C (p.Thr861Pro) c.2575A>C (p.Thr859Pro) c.2548A>C (p.Thr850Pro) c.2542A>C (p.Thr848Pro) c.2536A>C (p.Thr846Pro) c.2485A>C (p.Thr829Pro) c.2494-188A>C (n.2494-188A>C) c.2404A>C (p.Thr802Pro) c.2398A>C (p.Thr800Pro) c.2446-188A>C (n.2446-188A>C) c.2326A>C (p.Thr776Pro) c.2208+1479A>C (n.2208+1479A>C) c.1546A>C (p.Thr516Pro) n.2822A>C | dbSNP |
| 17 | g.39725139A>G | CA399304738 | ERBB2 | c.2584A>G (p.Thr862Ala) c.2494A>G (p.Thr832Ala) c.1756A>G (p.Thr586Ala) c.2539A>G (p.Thr847Ala) c.*2374A>G (n.*2374A>G) c.690A>G n.3718A>G n.2908A>G c.2722A>G (p.Thr908Ala) c.2677A>G (p.Thr893Ala) c.2632A>G (p.Thr878Ala) c.2701A>G (p.Thr901Ala) c.2686A>G (p.Thr896Ala) c.2665A>G (p.Thr889Ala) c.2659A>G (p.Thr887Ala) c.2614A>G (p.Thr872Ala) c.2605A>G (p.Thr869Ala) c.2581A>G (p.Thr861Ala) c.2575A>G (p.Thr859Ala) c.2548A>G (p.Thr850Ala) c.2542A>G (p.Thr848Ala) c.2536A>G (p.Thr846Ala) c.2485A>G (p.Thr829Ala) c.2494-188A>G (n.2494-188A>G) c.2404A>G (p.Thr802Ala) c.2398A>G (p.Thr800Ala) c.2446-188A>G (n.2446-188A>G) c.2326A>G (p.Thr776Ala) c.2208+1479A>G (n.2208+1479A>G) c.1546A>G (p.Thr516Ala) n.2822A>G | dbSNP COSMIC COSMIC |
| 17 | g.39725139A>T | CA399304741 | ERBB2 | c.2584A>T (p.Thr862Ser) c.2494A>T (p.Thr832Ser) c.1756A>T (p.Thr586Ser) c.2539A>T (p.Thr847Ser) c.*2374A>T (n.*2374A>T) c.690A>T n.3718A>T n.2908A>T c.2722A>T (p.Thr908Ser) c.2677A>T (p.Thr893Ser) c.2632A>T (p.Thr878Ser) c.2701A>T (p.Thr901Ser) c.2686A>T (p.Thr896Ser) c.2665A>T (p.Thr889Ser) c.2659A>T (p.Thr887Ser) c.2614A>T (p.Thr872Ser) c.2605A>T (p.Thr869Ser) c.2581A>T (p.Thr861Ser) c.2575A>T (p.Thr859Ser) c.2548A>T (p.Thr850Ser) c.2542A>T (p.Thr848Ser) c.2536A>T (p.Thr846Ser) c.2485A>T (p.Thr829Ser) c.2494-188A>T (n.2494-188A>T) c.2404A>T (p.Thr802Ser) c.2398A>T (p.Thr800Ser) c.2446-188A>T (n.2446-188A>T) c.2326A>T (p.Thr776Ser) c.2208+1479A>T (n.2208+1479A>T) c.1546A>T (p.Thr516Ser) n.2822A>T | dbSNP |
| 17 | g.39725140C>A | CA399304745 | ERBB2 | c.2585C>A (p.Thr862Lys) c.2495C>A (p.Thr832Lys) c.1757C>A (p.Thr586Lys) c.2540C>A (p.Thr847Lys) c.*2375C>A (n.*2375C>A) c.691C>A n.3719C>A n.2909C>A c.2723C>A (p.Thr908Lys) c.2678C>A (p.Thr893Lys) c.2633C>A (p.Thr878Lys) c.2702C>A (p.Thr901Lys) c.2687C>A (p.Thr896Lys) c.2666C>A (p.Thr889Lys) c.2660C>A (p.Thr887Lys) c.2615C>A (p.Thr872Lys) c.2606C>A (p.Thr869Lys) c.2582C>A (p.Thr861Lys) c.2576C>A (p.Thr859Lys) c.2549C>A (p.Thr850Lys) c.2543C>A (p.Thr848Lys) c.2537C>A (p.Thr846Lys) c.2486C>A (p.Thr829Lys) c.2494-187C>A (n.2494-187C>A) c.2405C>A (p.Thr802Lys) c.2399C>A (p.Thr800Lys) c.2446-187C>A (n.2446-187C>A) c.2327C>A (p.Thr776Lys) c.2208+1480C>A (n.2208+1480C>A) c.1547C>A (p.Thr516Lys) n.2823C>A | dbSNP |
| 17 | g.39725140C>G | CA399304747 | ERBB2 | c.2585C>G (p.Thr862Arg) c.2495C>G (p.Thr832Arg) c.1757C>G (p.Thr586Arg) c.2540C>G (p.Thr847Arg) c.*2375C>G (n.*2375C>G) c.691C>G n.3719C>G n.2909C>G c.2723C>G (p.Thr908Arg) c.2678C>G (p.Thr893Arg) c.2633C>G (p.Thr878Arg) c.2702C>G (p.Thr901Arg) c.2687C>G (p.Thr896Arg) c.2666C>G (p.Thr889Arg) c.2660C>G (p.Thr887Arg) c.2615C>G (p.Thr872Arg) c.2606C>G (p.Thr869Arg) c.2582C>G (p.Thr861Arg) c.2576C>G (p.Thr859Arg) c.2549C>G (p.Thr850Arg) c.2543C>G (p.Thr848Arg) c.2537C>G (p.Thr846Arg) c.2486C>G (p.Thr829Arg) c.2494-187C>G (n.2494-187C>G) c.2405C>G (p.Thr802Arg) c.2399C>G (p.Thr800Arg) c.2446-187C>G (n.2446-187C>G) c.2327C>G (p.Thr776Arg) c.2208+1480C>G (n.2208+1480C>G) c.1547C>G (p.Thr516Arg) n.2823C>G | dbSNP |
| 17 | g.39725140C>T | CA399304752 | ERBB2 | c.2585C>T (p.Thr862Ile) c.2495C>T (p.Thr832Ile) c.1757C>T (p.Thr586Ile) c.2540C>T (p.Thr847Ile) c.*2375C>T (n.*2375C>T) c.691C>T n.3719C>T n.2909C>T c.2723C>T (p.Thr908Ile) c.2678C>T (p.Thr893Ile) c.2633C>T (p.Thr878Ile) c.2702C>T (p.Thr901Ile) c.2687C>T (p.Thr896Ile) c.2666C>T (p.Thr889Ile) c.2660C>T (p.Thr887Ile) c.2615C>T (p.Thr872Ile) c.2606C>T (p.Thr869Ile) c.2582C>T (p.Thr861Ile) c.2576C>T (p.Thr859Ile) c.2549C>T (p.Thr850Ile) c.2543C>T (p.Thr848Ile) c.2537C>T (p.Thr846Ile) c.2486C>T (p.Thr829Ile) c.2494-187C>T (n.2494-187C>T) c.2405C>T (p.Thr802Ile) c.2399C>T (p.Thr800Ile) c.2446-187C>T (n.2446-187C>T) c.2327C>T (p.Thr776Ile) c.2208+1480C>T (n.2208+1480C>T) c.1547C>T (p.Thr516Ile) n.2823C>T | dbSNP gnomAD v4 |
| 17 | g.39725141A= | CA2259228148 | ERBB2 | c.2586A= (p.Thr862=) c.2496A= (p.Thr832=) c.1758A= (p.Thr586=) c.2541A= (p.Thr847=) c.*2376A= (n.*2376A=) c.692A= n.3720A= n.2910A= c.2724A= (p.Thr908=) c.2679A= (p.Thr893=) c.2634A= (p.Thr878=) c.2703A= (p.Thr901=) c.2688A= (p.Thr896=) c.2667A= (p.Thr889=) c.2661A= (p.Thr887=) c.2616A= (p.Thr872=) c.2607A= (p.Thr869=) c.2583A= (p.Thr861=) c.2577A= (p.Thr859=) c.2550A= (p.Thr850=) c.2544A= (p.Thr848=) c.2538A= (p.Thr846=) c.2487A= (p.Thr829=) c.2494-186A= (n.2494-186A=) c.2406A= (p.Thr802=) c.2400A= (p.Thr800=) c.2446-186A= (n.2446-186A=) c.2328A= (p.Thr776=) c.2208+1481A= (n.2208+1481A=) c.1548A= (p.Thr516=) n.2824A= | |
| 17 | g.39725141A>C | CA499890175 | ERBB2 | c.2586A>C (p.Thr862=) c.2496A>C (p.Thr832=) c.1758A>C (p.Thr586=) c.2541A>C (p.Thr847=) c.*2376A>C (n.*2376A>C) c.692A>C n.3720A>C n.2910A>C c.2724A>C (p.Thr908=) c.2679A>C (p.Thr893=) c.2634A>C (p.Thr878=) c.2703A>C (p.Thr901=) c.2688A>C (p.Thr896=) c.2667A>C (p.Thr889=) c.2661A>C (p.Thr887=) c.2616A>C (p.Thr872=) c.2607A>C (p.Thr869=) c.2583A>C (p.Thr861=) c.2577A>C (p.Thr859=) c.2550A>C (p.Thr850=) c.2544A>C (p.Thr848=) c.2538A>C (p.Thr846=) c.2487A>C (p.Thr829=) c.2494-186A>C (n.2494-186A>C) c.2406A>C (p.Thr802=) c.2400A>C (p.Thr800=) c.2446-186A>C (n.2446-186A>C) c.2328A>C (p.Thr776=) c.2208+1481A>C (n.2208+1481A>C) c.1548A>C (p.Thr516=) n.2824A>C | dbSNP |
| 17 | g.39725141A>G | CA499890177 | ERBB2 | c.2586A>G (p.Thr862=) c.2496A>G (p.Thr832=) c.1758A>G (p.Thr586=) c.2541A>G (p.Thr847=) c.*2376A>G (n.*2376A>G) c.692A>G n.3720A>G n.2910A>G c.2724A>G (p.Thr908=) c.2679A>G (p.Thr893=) c.2634A>G (p.Thr878=) c.2703A>G (p.Thr901=) c.2688A>G (p.Thr896=) c.2667A>G (p.Thr889=) c.2661A>G (p.Thr887=) c.2616A>G (p.Thr872=) c.2607A>G (p.Thr869=) c.2583A>G (p.Thr861=) c.2577A>G (p.Thr859=) c.2550A>G (p.Thr850=) c.2544A>G (p.Thr848=) c.2538A>G (p.Thr846=) c.2487A>G (p.Thr829=) c.2494-186A>G (n.2494-186A>G) c.2406A>G (p.Thr802=) c.2400A>G (p.Thr800=) c.2446-186A>G (n.2446-186A>G) c.2328A>G (p.Thr776=) c.2208+1481A>G (n.2208+1481A>G) c.1548A>G (p.Thr516=) n.2824A>G | dbSNP |
| 17 | g.39725141A>T | CA8534331 | ERBB2 | c.2586A>T (p.Thr862=) c.2496A>T (p.Thr832=) c.1758A>T (p.Thr586=) c.2541A>T (p.Thr847=) c.*2376A>T (n.*2376A>T) c.692A>T n.3720A>T n.2910A>T c.2724A>T (p.Thr908=) c.2679A>T (p.Thr893=) c.2634A>T (p.Thr878=) c.2703A>T (p.Thr901=) c.2688A>T (p.Thr896=) c.2667A>T (p.Thr889=) c.2661A>T (p.Thr887=) c.2616A>T (p.Thr872=) c.2607A>T (p.Thr869=) c.2583A>T (p.Thr861=) c.2577A>T (p.Thr859=) c.2550A>T (p.Thr850=) c.2544A>T (p.Thr848=) c.2538A>T (p.Thr846=) c.2487A>T (p.Thr829=) c.2494-186A>T (n.2494-186A>T) c.2406A>T (p.Thr802=) c.2400A>T (p.Thr800=) c.2446-186A>T (n.2446-186A>T) c.2328A>T (p.Thr776=) c.2208+1481A>T (n.2208+1481A>T) c.1548A>T (p.Thr516=) n.2824A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39725142G>A | CA399304759 | ERBB2 | c.2587G>A (p.Asp863Asn) c.2497G>A (p.Asp833Asn) c.1759G>A (p.Asp587Asn) c.2542G>A (p.Asp848Asn) c.*2377G>A (n.*2377G>A) c.693G>A n.3721G>A n.2911G>A c.2725G>A (p.Asp909Asn) c.2680G>A (p.Asp894Asn) c.2635G>A (p.Asp879Asn) c.2704G>A (p.Asp902Asn) c.2689G>A (p.Asp897Asn) c.2668G>A (p.Asp890Asn) c.2662G>A (p.Asp888Asn) c.2617G>A (p.Asp873Asn) c.2608G>A (p.Asp870Asn) c.2584G>A (p.Asp862Asn) c.2578G>A (p.Asp860Asn) c.2551G>A (p.Asp851Asn) c.2545G>A (p.Asp849Asn) c.2539G>A (p.Asp847Asn) c.2488G>A (p.Asp830Asn) c.2494-185G>A (n.2494-185G>A) c.2407G>A (p.Asp803Asn) c.2401G>A (p.Asp801Asn) c.2446-185G>A (n.2446-185G>A) c.2329G>A (p.Asp777Asn) c.2208+1482G>A (n.2208+1482G>A) c.1549G>A (p.Asp517Asn) n.2825G>A | dbSNP |
| 17 | g.39725142G>C | CA399304763 | ERBB2 | c.2587G>C (p.Asp863His) c.2497G>C (p.Asp833His) c.1759G>C (p.Asp587His) c.2542G>C (p.Asp848His) c.*2377G>C (n.*2377G>C) c.693G>C n.3721G>C n.2911G>C c.2725G>C (p.Asp909His) c.2680G>C (p.Asp894His) c.2635G>C (p.Asp879His) c.2704G>C (p.Asp902His) c.2689G>C (p.Asp897His) c.2668G>C (p.Asp890His) c.2662G>C (p.Asp888His) c.2617G>C (p.Asp873His) c.2608G>C (p.Asp870His) c.2584G>C (p.Asp862His) c.2578G>C (p.Asp860His) c.2551G>C (p.Asp851His) c.2545G>C (p.Asp849His) c.2539G>C (p.Asp847His) c.2488G>C (p.Asp830His) c.2494-185G>C (n.2494-185G>C) c.2407G>C (p.Asp803His) c.2401G>C (p.Asp801His) c.2446-185G>C (n.2446-185G>C) c.2329G>C (p.Asp777His) c.2208+1482G>C (n.2208+1482G>C) c.1549G>C (p.Asp517His) n.2825G>C | dbSNP |
| 17 | g.39725142G>T | CA399304767 | ERBB2 | c.2587G>T (p.Asp863Tyr) c.2497G>T (p.Asp833Tyr) c.1759G>T (p.Asp587Tyr) c.2542G>T (p.Asp848Tyr) c.*2377G>T (n.*2377G>T) c.693G>T n.3721G>T n.2911G>T c.2725G>T (p.Asp909Tyr) c.2680G>T (p.Asp894Tyr) c.2635G>T (p.Asp879Tyr) c.2704G>T (p.Asp902Tyr) c.2689G>T (p.Asp897Tyr) c.2668G>T (p.Asp890Tyr) c.2662G>T (p.Asp888Tyr) c.2617G>T (p.Asp873Tyr) c.2608G>T (p.Asp870Tyr) c.2584G>T (p.Asp862Tyr) c.2578G>T (p.Asp860Tyr) c.2551G>T (p.Asp851Tyr) c.2545G>T (p.Asp849Tyr) c.2539G>T (p.Asp847Tyr) c.2488G>T (p.Asp830Tyr) c.2494-185G>T (n.2494-185G>T) c.2407G>T (p.Asp803Tyr) c.2401G>T (p.Asp801Tyr) c.2446-185G>T (n.2446-185G>T) c.2329G>T (p.Asp777Tyr) c.2208+1482G>T (n.2208+1482G>T) c.1549G>T (p.Asp517Tyr) n.2825G>T | dbSNP |
| 17 | g.39725143A>C | CA399304779 | ERBB2 | c.2588A>C (p.Asp863Ala) c.2498A>C (p.Asp833Ala) c.1760A>C (p.Asp587Ala) c.2543A>C (p.Asp848Ala) c.*2378A>C (n.*2378A>C) c.694A>C n.3722A>C n.2912A>C c.2726A>C (p.Asp909Ala) c.2681A>C (p.Asp894Ala) c.2636A>C (p.Asp879Ala) c.2705A>C (p.Asp902Ala) c.2690A>C (p.Asp897Ala) c.2669A>C (p.Asp890Ala) c.2663A>C (p.Asp888Ala) c.2618A>C (p.Asp873Ala) c.2609A>C (p.Asp870Ala) c.2585A>C (p.Asp862Ala) c.2579A>C (p.Asp860Ala) c.2552A>C (p.Asp851Ala) c.2546A>C (p.Asp849Ala) c.2540A>C (p.Asp847Ala) c.2489A>C (p.Asp830Ala) c.2494-184A>C (n.2494-184A>C) c.2408A>C (p.Asp803Ala) c.2402A>C (p.Asp801Ala) c.2446-184A>C (n.2446-184A>C) c.2330A>C (p.Asp777Ala) c.2208+1483A>C (n.2208+1483A>C) c.1550A>C (p.Asp517Ala) n.2826A>C | dbSNP |
| 17 | g.39725143A>G | CA399304775 | ERBB2 | c.2588A>G (p.Asp863Gly) c.2498A>G (p.Asp833Gly) c.1760A>G (p.Asp587Gly) c.2543A>G (p.Asp848Gly) c.*2378A>G (n.*2378A>G) c.694A>G n.3722A>G n.2912A>G c.2726A>G (p.Asp909Gly) c.2681A>G (p.Asp894Gly) c.2636A>G (p.Asp879Gly) c.2705A>G (p.Asp902Gly) c.2690A>G (p.Asp897Gly) c.2669A>G (p.Asp890Gly) c.2663A>G (p.Asp888Gly) c.2618A>G (p.Asp873Gly) c.2609A>G (p.Asp870Gly) c.2585A>G (p.Asp862Gly) c.2579A>G (p.Asp860Gly) c.2552A>G (p.Asp851Gly) c.2546A>G (p.Asp849Gly) c.2540A>G (p.Asp847Gly) c.2489A>G (p.Asp830Gly) c.2494-184A>G (n.2494-184A>G) c.2408A>G (p.Asp803Gly) c.2402A>G (p.Asp801Gly) c.2446-184A>G (n.2446-184A>G) c.2330A>G (p.Asp777Gly) c.2208+1483A>G (n.2208+1483A>G) c.1550A>G (p.Asp517Gly) n.2826A>G | |
| 17 | g.39725143A>T | CA399304772 | ERBB2 | c.2588A>T (p.Asp863Val) c.2498A>T (p.Asp833Val) c.1760A>T (p.Asp587Val) c.2543A>T (p.Asp848Val) c.*2378A>T (n.*2378A>T) c.694A>T n.3722A>T n.2912A>T c.2726A>T (p.Asp909Val) c.2681A>T (p.Asp894Val) c.2636A>T (p.Asp879Val) c.2705A>T (p.Asp902Val) c.2690A>T (p.Asp897Val) c.2669A>T (p.Asp890Val) c.2663A>T (p.Asp888Val) c.2618A>T (p.Asp873Val) c.2609A>T (p.Asp870Val) c.2585A>T (p.Asp862Val) c.2579A>T (p.Asp860Val) c.2552A>T (p.Asp851Val) c.2546A>T (p.Asp849Val) c.2540A>T (p.Asp847Val) c.2489A>T (p.Asp830Val) c.2494-184A>T (n.2494-184A>T) c.2408A>T (p.Asp803Val) c.2402A>T (p.Asp801Val) c.2446-184A>T (n.2446-184A>T) c.2330A>T (p.Asp777Val) c.2208+1483A>T (n.2208+1483A>T) c.1550A>T (p.Asp517Val) n.2826A>T | dbSNP |
| 17 | g.39725144C>A | CA399304784 | ERBB2 | c.2589C>A (p.Asp863Glu) c.2499C>A (p.Asp833Glu) c.1761C>A (p.Asp587Glu) c.2544C>A (p.Asp848Glu) c.*2379C>A (n.*2379C>A) c.695C>A n.3723C>A n.2913C>A c.2727C>A (p.Asp909Glu) c.2682C>A (p.Asp894Glu) c.2637C>A (p.Asp879Glu) c.2706C>A (p.Asp902Glu) c.2691C>A (p.Asp897Glu) c.2670C>A (p.Asp890Glu) c.2664C>A (p.Asp888Glu) c.2619C>A (p.Asp873Glu) c.2610C>A (p.Asp870Glu) c.2586C>A (p.Asp862Glu) c.2580C>A (p.Asp860Glu) c.2553C>A (p.Asp851Glu) c.2547C>A (p.Asp849Glu) c.2541C>A (p.Asp847Glu) c.2490C>A (p.Asp830Glu) c.2494-183C>A (n.2494-183C>A) c.2409C>A (p.Asp803Glu) c.2403C>A (p.Asp801Glu) c.2446-183C>A (n.2446-183C>A) c.2331C>A (p.Asp777Glu) c.2208+1484C>A (n.2208+1484C>A) c.1551C>A (p.Asp517Glu) n.2827C>A | dbSNP |
| 17 | g.39725144C= | CA2259228149 | ERBB2 | c.2589C= (p.Asp863=) c.2499C= (p.Asp833=) c.1761C= (p.Asp587=) c.2544C= (p.Asp848=) c.*2379C= (n.*2379C=) c.695C= n.3723C= n.2913C= c.2727C= (p.Asp909=) c.2682C= (p.Asp894=) c.2637C= (p.Asp879=) c.2706C= (p.Asp902=) c.2691C= (p.Asp897=) c.2670C= (p.Asp890=) c.2664C= (p.Asp888=) c.2619C= (p.Asp873=) c.2610C= (p.Asp870=) c.2586C= (p.Asp862=) c.2580C= (p.Asp860=) c.2553C= (p.Asp851=) c.2547C= (p.Asp849=) c.2541C= (p.Asp847=) c.2490C= (p.Asp830=) c.2494-183C= (n.2494-183C=) c.2409C= (p.Asp803=) c.2403C= (p.Asp801=) c.2446-183C= (n.2446-183C=) c.2331C= (p.Asp777=) c.2208+1484C= (n.2208+1484C=) c.1551C= (p.Asp517=) n.2827C= | |
| 17 | g.39725144C>G | CA399304790 | ERBB2 | c.2589C>G (p.Asp863Glu) c.2499C>G (p.Asp833Glu) c.1761C>G (p.Asp587Glu) c.2544C>G (p.Asp848Glu) c.*2379C>G (n.*2379C>G) c.695C>G n.3723C>G n.2913C>G c.2727C>G (p.Asp909Glu) c.2682C>G (p.Asp894Glu) c.2637C>G (p.Asp879Glu) c.2706C>G (p.Asp902Glu) c.2691C>G (p.Asp897Glu) c.2670C>G (p.Asp890Glu) c.2664C>G (p.Asp888Glu) c.2619C>G (p.Asp873Glu) c.2610C>G (p.Asp870Glu) c.2586C>G (p.Asp862Glu) c.2580C>G (p.Asp860Glu) c.2553C>G (p.Asp851Glu) c.2547C>G (p.Asp849Glu) c.2541C>G (p.Asp847Glu) c.2490C>G (p.Asp830Glu) c.2494-183C>G (n.2494-183C>G) c.2409C>G (p.Asp803Glu) c.2403C>G (p.Asp801Glu) c.2446-183C>G (n.2446-183C>G) c.2331C>G (p.Asp777Glu) c.2208+1484C>G (n.2208+1484C>G) c.1551C>G (p.Asp517Glu) n.2827C>G | dbSNP |
| 17 | g.39725144C>T | CA8534332 | ERBB2 | c.2589C>T (p.Asp863=) c.2499C>T (p.Asp833=) c.1761C>T (p.Asp587=) c.2544C>T (p.Asp848=) c.*2379C>T (n.*2379C>T) c.695C>T n.3723C>T n.2913C>T c.2727C>T (p.Asp909=) c.2682C>T (p.Asp894=) c.2637C>T (p.Asp879=) c.2706C>T (p.Asp902=) c.2691C>T (p.Asp897=) c.2670C>T (p.Asp890=) c.2664C>T (p.Asp888=) c.2619C>T (p.Asp873=) c.2610C>T (p.Asp870=) c.2586C>T (p.Asp862=) c.2580C>T (p.Asp860=) c.2553C>T (p.Asp851=) c.2547C>T (p.Asp849=) c.2541C>T (p.Asp847=) c.2490C>T (p.Asp830=) c.2494-183C>T (n.2494-183C>T) c.2409C>T (p.Asp803=) c.2403C>T (p.Asp801=) c.2446-183C>T (n.2446-183C>T) c.2331C>T (p.Asp777=) c.2208+1484C>T (n.2208+1484C>T) c.1551C>T (p.Asp517=) n.2827C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39725145T>A | CA399304794 | ERBB2 | c.2590T>A (p.Phe864Ile) c.2500T>A (p.Phe834Ile) c.1762T>A (p.Phe588Ile) c.2545T>A (p.Phe849Ile) c.*2380T>A (n.*2380T>A) c.696T>A n.3724T>A n.2914T>A c.2728T>A (p.Phe910Ile) c.2683T>A (p.Phe895Ile) c.2638T>A (p.Phe880Ile) c.2707T>A (p.Phe903Ile) c.2692T>A (p.Phe898Ile) c.2671T>A (p.Phe891Ile) c.2665T>A (p.Phe889Ile) c.2620T>A (p.Phe874Ile) c.2611T>A (p.Phe871Ile) c.2587T>A (p.Phe863Ile) c.2581T>A (p.Phe861Ile) c.2554T>A (p.Phe852Ile) c.2548T>A (p.Phe850Ile) c.2542T>A (p.Phe848Ile) c.2491T>A (p.Phe831Ile) c.2494-182T>A (n.2494-182T>A) c.2410T>A (p.Phe804Ile) c.2404T>A (p.Phe802Ile) c.2446-182T>A (n.2446-182T>A) c.2332T>A (p.Phe778Ile) c.2208+1485T>A (n.2208+1485T>A) c.1552T>A (p.Phe518Ile) n.2828T>A | dbSNP |
| 17 | g.39725145T>C | CA399304798 | ERBB2 | c.2590T>C (p.Phe864Leu) c.2500T>C (p.Phe834Leu) c.1762T>C (p.Phe588Leu) c.2545T>C (p.Phe849Leu) c.*2380T>C (n.*2380T>C) c.696T>C n.3724T>C n.2914T>C c.2728T>C (p.Phe910Leu) c.2683T>C (p.Phe895Leu) c.2638T>C (p.Phe880Leu) c.2707T>C (p.Phe903Leu) c.2692T>C (p.Phe898Leu) c.2671T>C (p.Phe891Leu) c.2665T>C (p.Phe889Leu) c.2620T>C (p.Phe874Leu) c.2611T>C (p.Phe871Leu) c.2587T>C (p.Phe863Leu) c.2581T>C (p.Phe861Leu) c.2554T>C (p.Phe852Leu) c.2548T>C (p.Phe850Leu) c.2542T>C (p.Phe848Leu) c.2491T>C (p.Phe831Leu) c.2494-182T>C (n.2494-182T>C) c.2410T>C (p.Phe804Leu) c.2404T>C (p.Phe802Leu) c.2446-182T>C (n.2446-182T>C) c.2332T>C (p.Phe778Leu) c.2208+1485T>C (n.2208+1485T>C) c.1552T>C (p.Phe518Leu) n.2828T>C | dbSNP |
| 17 | g.39725145T>G | CA399304802 | ERBB2 | c.2590T>G (p.Phe864Val) c.2500T>G (p.Phe834Val) c.1762T>G (p.Phe588Val) c.2545T>G (p.Phe849Val) c.*2380T>G (n.*2380T>G) c.696T>G n.3724T>G n.2914T>G c.2728T>G (p.Phe910Val) c.2683T>G (p.Phe895Val) c.2638T>G (p.Phe880Val) c.2707T>G (p.Phe903Val) c.2692T>G (p.Phe898Val) c.2671T>G (p.Phe891Val) c.2665T>G (p.Phe889Val) c.2620T>G (p.Phe874Val) c.2611T>G (p.Phe871Val) c.2587T>G (p.Phe863Val) c.2581T>G (p.Phe861Val) c.2554T>G (p.Phe852Val) c.2548T>G (p.Phe850Val) c.2542T>G (p.Phe848Val) c.2491T>G (p.Phe831Val) c.2494-182T>G (n.2494-182T>G) c.2410T>G (p.Phe804Val) c.2404T>G (p.Phe802Val) c.2446-182T>G (n.2446-182T>G) c.2332T>G (p.Phe778Val) c.2208+1485T>G (n.2208+1485T>G) c.1552T>G (p.Phe518Val) n.2828T>G | |
| 17 | g.39725146del | CA2637622182 | ERBB2 | c.2591del (p.Phe864SerfsTer?) c.2501del (p.Phe834SerfsTer?) c.1763del (p.Phe588SerfsTer?) c.2546del (p.Phe849SerfsTer?) c.*2381del (n.*2381del) c.697del n.3725del n.2915del c.2729del (p.Phe910SerfsTer?) c.2684del (p.Phe895SerfsTer?) c.2639del (p.Phe880SerfsTer?) c.2708del (p.Phe903SerfsTer?) c.2693del (p.Phe898SerfsTer?) c.2672del (p.Phe891SerfsTer?) c.2666del (p.Phe889SerfsTer?) c.2621del (p.Phe874SerfsTer?) c.2612del (p.Phe871SerfsTer?) c.2588del (p.Phe863SerfsTer?) c.2582del (p.Phe861SerfsTer?) c.2555del (p.Phe852SerfsTer?) c.2549del (p.Phe850SerfsTer?) c.2543del (p.Phe848SerfsTer?) c.2492del (p.Phe831SerfsTer?) c.2494-181del (n.2494-181del) c.2411del (p.Phe804SerfsTer?) c.2405del (p.Phe802SerfsTer?) c.2446-181del (n.2446-181del) c.2333del (p.Phe778SerfsTer?) c.2208+1486del (n.2208+1486del) c.1553del (p.Phe518SerfsTer?) n.2829del | gnomAD v4 |
| 17 | g.39725146T>A | CA399304814 | ERBB2 | c.2591T>A (p.Phe864Tyr) c.2501T>A (p.Phe834Tyr) c.1763T>A (p.Phe588Tyr) c.2546T>A (p.Phe849Tyr) c.*2381T>A (n.*2381T>A) c.697T>A n.3725T>A n.2915T>A c.2729T>A (p.Phe910Tyr) c.2684T>A (p.Phe895Tyr) c.2639T>A (p.Phe880Tyr) c.2708T>A (p.Phe903Tyr) c.2693T>A (p.Phe898Tyr) c.2672T>A (p.Phe891Tyr) c.2666T>A (p.Phe889Tyr) c.2621T>A (p.Phe874Tyr) c.2612T>A (p.Phe871Tyr) c.2588T>A (p.Phe863Tyr) c.2582T>A (p.Phe861Tyr) c.2555T>A (p.Phe852Tyr) c.2549T>A (p.Phe850Tyr) c.2543T>A (p.Phe848Tyr) c.2492T>A (p.Phe831Tyr) c.2494-181T>A (n.2494-181T>A) c.2411T>A (p.Phe804Tyr) c.2405T>A (p.Phe802Tyr) c.2446-181T>A (n.2446-181T>A) c.2333T>A (p.Phe778Tyr) c.2208+1486T>A (n.2208+1486T>A) c.1553T>A (p.Phe518Tyr) n.2829T>A | dbSNP |
| 17 | g.39725146T>C | CA399304817 | ERBB2 | c.2591T>C (p.Phe864Ser) c.2501T>C (p.Phe834Ser) c.1763T>C (p.Phe588Ser) c.2546T>C (p.Phe849Ser) c.*2381T>C (n.*2381T>C) c.697T>C n.3725T>C n.2915T>C c.2729T>C (p.Phe910Ser) c.2684T>C (p.Phe895Ser) c.2639T>C (p.Phe880Ser) c.2708T>C (p.Phe903Ser) c.2693T>C (p.Phe898Ser) c.2672T>C (p.Phe891Ser) c.2666T>C (p.Phe889Ser) c.2621T>C (p.Phe874Ser) c.2612T>C (p.Phe871Ser) c.2588T>C (p.Phe863Ser) c.2582T>C (p.Phe861Ser) c.2555T>C (p.Phe852Ser) c.2549T>C (p.Phe850Ser) c.2543T>C (p.Phe848Ser) c.2492T>C (p.Phe831Ser) c.2494-181T>C (n.2494-181T>C) c.2411T>C (p.Phe804Ser) c.2405T>C (p.Phe802Ser) c.2446-181T>C (n.2446-181T>C) c.2333T>C (p.Phe778Ser) c.2208+1486T>C (n.2208+1486T>C) c.1553T>C (p.Phe518Ser) n.2829T>C | dbSNP |
| 17 | g.39725146T>G | CA399304821 | ERBB2 | c.2591T>G (p.Phe864Cys) c.2501T>G (p.Phe834Cys) c.1763T>G (p.Phe588Cys) c.2546T>G (p.Phe849Cys) c.*2381T>G (n.*2381T>G) c.697T>G n.3725T>G n.2915T>G c.2729T>G (p.Phe910Cys) c.2684T>G (p.Phe895Cys) c.2639T>G (p.Phe880Cys) c.2708T>G (p.Phe903Cys) c.2693T>G (p.Phe898Cys) c.2672T>G (p.Phe891Cys) c.2666T>G (p.Phe889Cys) c.2621T>G (p.Phe874Cys) c.2612T>G (p.Phe871Cys) c.2588T>G (p.Phe863Cys) c.2582T>G (p.Phe861Cys) c.2555T>G (p.Phe852Cys) c.2549T>G (p.Phe850Cys) c.2543T>G (p.Phe848Cys) c.2492T>G (p.Phe831Cys) c.2494-181T>G (n.2494-181T>G) c.2411T>G (p.Phe804Cys) c.2405T>G (p.Phe802Cys) c.2446-181T>G (n.2446-181T>G) c.2333T>G (p.Phe778Cys) c.2208+1486T>G (n.2208+1486T>G) c.1553T>G (p.Phe518Cys) n.2829T>G |