SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122284630_122285173delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA | CA1397872785 | CASR | c.2445_2988delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser815=) c.2706_3249delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser902=) c.2676_3219delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser892=) c.2193_2736delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser731=) c.2088_2631delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser696=) | |
| 3 | g.122284636_122285178del | CA281596 | CASR | c.2451_2993del (p.Ser818_Val998del) c.2712_3254del (p.Ser905_Val1085del) c.2682_3224del (p.Ser895_Val1075del) c.2199_2741del (p.Ser734_Val914del) c.2094_2636del (p.Ser699_Val879del) | ClinVar dbSNP |
| 3 | g.122284842_122285665del | CA2740094578 | CASR | c.2657_*474del (n.[c.2657_*474del;Lys886ThrfsTer5]) c.2918_*474del (n.[c.2918_*474del;Lys973ThrfsTer5]) c.2888_*474del (n.[c.2888_*474del;Lys963ThrfsTer5]) c.2405_*474del (n.[c.2405_*474del;Lys802ThrfsTer5]) c.2300_*474del (n.[c.2300_*474del;Lys767ThrfsTer5]) | ClinVar |
| 3 | g.122285112C>A | CA354161633 | CASR | c.2927C>A (p.Ala976Glu) c.3188C>A (p.Ala1063Glu) c.3158C>A (p.Ala1053Glu) c.2675C>A (p.Ala892Glu) c.2570C>A (p.Ala857Glu) | |
| 3 | g.122285112C>G | CA354161635 | CASR | c.2927C>G (p.Ala976Gly) c.3188C>G (p.Ala1063Gly) c.3158C>G (p.Ala1053Gly) c.2675C>G (p.Ala892Gly) c.2570C>G (p.Ala857Gly) | |
| 3 | g.122285112C>T | CA354161631 | CASR | c.2927C>T (p.Ala976Val) c.3188C>T (p.Ala1063Val) c.3158C>T (p.Ala1053Val) c.2675C>T (p.Ala892Val) c.2570C>T (p.Ala857Val) | ClinVar |
| 3 | g.122285113A= | CA1397873279 | CASR | c.2928A= (p.Ala976=) c.3189A= (p.Ala1063=) c.3159A= (p.Ala1053=) c.2676A= (p.Ala892=) c.2571A= (p.Ala857=) | |
| 3 | g.122285113A>C | CA82749604 | CASR | c.2928A>C (p.Ala976=) c.3189A>C (p.Ala1063=) c.3159A>C (p.Ala1053=) c.2676A>C (p.Ala892=) c.2571A>C (p.Ala857=) | ClinVar dbSNP |
| 3 | g.122285113A>G | CA435425638 | CASR | c.2928A>G (p.Ala976=) c.3189A>G (p.Ala1063=) c.3159A>G (p.Ala1053=) c.2676A>G (p.Ala892=) c.2571A>G (p.Ala857=) | |
| 3 | g.122285113A>T | CA435425637 | CASR | c.2928A>T (p.Ala976=) c.3189A>T (p.Ala1063=) c.3159A>T (p.Ala1053=) c.2676A>T (p.Ala892=) c.2571A>T (p.Ala857=) | |
| 3 | g.122285114C>A | CA354161638 | CASR | c.2929C>A (p.Leu977Ile) c.3190C>A (p.Leu1064Ile) c.3160C>A (p.Leu1054Ile) c.2677C>A (p.Leu893Ile) c.2572C>A (p.Leu858Ile) | |
| 3 | g.122285114C>G | CA354161636 | CASR | c.2929C>G (p.Leu977Val) c.3190C>G (p.Leu1064Val) c.3160C>G (p.Leu1054Val) c.2677C>G (p.Leu893Val) c.2572C>G (p.Leu858Val) | |
| 3 | g.122285114C>T | CA354161640 | CASR | c.2929C>T (p.Leu977Phe) c.3190C>T (p.Leu1064Phe) c.3160C>T (p.Leu1054Phe) c.2677C>T (p.Leu893Phe) c.2572C>T (p.Leu858Phe) | |
| 3 | g.122285115T>A | CA354161642 | CASR | c.2930T>A (p.Leu977His) c.3191T>A (p.Leu1064His) c.3161T>A (p.Leu1054His) c.2678T>A (p.Leu893His) c.2573T>A (p.Leu858His) | |
| 3 | g.122285115T>C | CA354161646 | CASR | c.2930T>C (p.Leu977Pro) c.3191T>C (p.Leu1064Pro) c.3161T>C (p.Leu1054Pro) c.2678T>C (p.Leu893Pro) c.2573T>C (p.Leu858Pro) | |
| 3 | g.122285115T>G | CA354161644 | CASR | c.2930T>G (p.Leu977Arg) c.3191T>G (p.Leu1064Arg) c.3161T>G (p.Leu1054Arg) c.2678T>G (p.Leu893Arg) c.2573T>G (p.Leu858Arg) | |
| 3 | g.122285116T>A | CA435425639 | CASR | c.2931T>A (p.Leu977=) c.3192T>A (p.Leu1064=) c.3162T>A (p.Leu1054=) c.2679T>A (p.Leu893=) c.2574T>A (p.Leu858=) | |
| 3 | g.122285116T>C | CA435425640 | CASR | c.2931T>C (p.Leu977=) c.3192T>C (p.Leu1064=) c.3162T>C (p.Leu1054=) c.2679T>C (p.Leu893=) c.2574T>C (p.Leu858=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122285116T>G | CA435425641 | CASR | c.2931T>G (p.Leu977=) c.3192T>G (p.Leu1064=) c.3162T>G (p.Leu1054=) c.2679T>G (p.Leu893=) c.2574T>G (p.Leu858=) | |
| 3 | g.122285116T= | CA1397873281 | CASR | c.2931T= (p.Leu977=) c.3192T= (p.Leu1064=) c.3162T= (p.Leu1054=) c.2679T= (p.Leu893=) c.2574T= (p.Leu858=) | |
| 3 | g.122285117G>A | CA354161648 | CASR | c.2932G>A (p.Val978Ile) c.3193G>A (p.Val1065Ile) c.3163G>A (p.Val1055Ile) c.2680G>A (p.Val894Ile) c.2575G>A (p.Val859Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122285117G>C | CA354161650 | CASR | c.2932G>C (p.Val978Leu) c.3193G>C (p.Val1065Leu) c.3163G>C (p.Val1055Leu) c.2680G>C (p.Val894Leu) c.2575G>C (p.Val859Leu) | gnomAD v4 |
| 3 | g.122285117G= | CA1397873283 | CASR | c.2932G= (p.Val978=) c.3193G= (p.Val1065=) c.3163G= (p.Val1055=) c.2680G= (p.Val894=) c.2575G= (p.Val859=) | |
| 3 | g.122285117G>T | CA354161652 | CASR | c.2932G>T (p.Val978Leu) c.3193G>T (p.Val1065Leu) c.3163G>T (p.Val1055Leu) c.2680G>T (p.Val894Leu) c.2575G>T (p.Val859Leu) | |
| 3 | g.122285118T>A | CA354161654 | CASR | c.2933T>A (p.Val978Glu) c.3194T>A (p.Val1065Glu) c.3164T>A (p.Val1055Glu) c.2681T>A (p.Val894Glu) c.2576T>A (p.Val859Glu) | |
| 3 | g.122285118T>C | CA354161656 | CASR | c.2933T>C (p.Val978Ala) c.3194T>C (p.Val1065Ala) c.3164T>C (p.Val1055Ala) c.2681T>C (p.Val894Ala) c.2576T>C (p.Val859Ala) | dbSNP |
| 3 | g.122285118T>G | CA354161658 | CASR | c.2933T>G (p.Val978Gly) c.3194T>G (p.Val1065Gly) c.3164T>G (p.Val1055Gly) c.2681T>G (p.Val894Gly) c.2576T>G (p.Val859Gly) | |
| 3 | g.122285118T= | CA1397873285 | CASR | c.2933T= (p.Val978=) c.3194T= (p.Val1065=) c.3164T= (p.Val1055=) c.2681T= (p.Val894=) c.2576T= (p.Val859=) | |
| 3 | g.122285119A= | CA1397873286 | CASR | c.2934A= (p.Val978=) c.3195A= (p.Val1065=) c.3165A= (p.Val1055=) c.2682A= (p.Val894=) c.2577A= (p.Val859=) | |
| 3 | g.122285119A>C | CA435425642 | CASR | c.2934A>C (p.Val978=) c.3195A>C (p.Val1065=) c.3165A>C (p.Val1055=) c.2682A>C (p.Val894=) c.2577A>C (p.Val859=) | |
| 3 | g.122285119A>G | CA435425643 | CASR | c.2934A>G (p.Val978=) c.3195A>G (p.Val1065=) c.3165A>G (p.Val1055=) c.2682A>G (p.Val894=) c.2577A>G (p.Val859=) | ClinVar |
| 3 | g.122285119A>T | CA435425644 | CASR | c.2934A>T (p.Val978=) c.3195A>T (p.Val1065=) c.3165A>T (p.Val1055=) c.2682A>T (p.Val894=) c.2577A>T (p.Val859=) | dbSNP |
| 3 | g.122285120G>A | CA354161660 | CASR | c.2935G>A (p.Val979Met) c.3196G>A (p.Val1066Met) c.3166G>A (p.Val1056Met) c.2683G>A (p.Val895Met) c.2578G>A (p.Val860Met) | COSMIC |
| 3 | g.122285120G>C | CA354161662 | CASR | c.2935G>C (p.Val979Leu) c.3196G>C (p.Val1066Leu) c.3166G>C (p.Val1056Leu) c.2683G>C (p.Val895Leu) c.2578G>C (p.Val860Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122285120G= | CA1397873288 | CASR | c.2935G= (p.Val979=) c.3196G= (p.Val1066=) c.3166G= (p.Val1056=) c.2683G= (p.Val895=) c.2578G= (p.Val860=) | |
| 3 | g.122285120G>T | CA354161664 | CASR | c.2935G>T (p.Val979Leu) c.3196G>T (p.Val1066Leu) c.3166G>T (p.Val1056Leu) c.2683G>T (p.Val895Leu) c.2578G>T (p.Val860Leu) | |
| 3 | g.122285121T>A | CA354161666 | CASR | c.2936T>A (p.Val979Glu) c.3197T>A (p.Val1066Glu) c.3167T>A (p.Val1056Glu) c.2684T>A (p.Val895Glu) c.2579T>A (p.Val860Glu) | |
| 3 | g.122285121T>C | CA82749616 | CASR | c.2936T>C (p.Val979Ala) c.3197T>C (p.Val1066Ala) c.3167T>C (p.Val1056Ala) c.2684T>C (p.Val895Ala) c.2579T>C (p.Val860Ala) | ClinVar dbSNP |
| 3 | g.122285121T>G | CA354161669 | CASR | c.2936T>G (p.Val979Gly) c.3197T>G (p.Val1066Gly) c.3167T>G (p.Val1056Gly) c.2684T>G (p.Val895Gly) c.2579T>G (p.Val860Gly) | |
| 3 | g.122285121T= | CA1397873289 | CASR | c.2936T= (p.Val979=) c.3197T= (p.Val1066=) c.3167T= (p.Val1056=) c.2684T= (p.Val895=) c.2579T= (p.Val860=) | |
| 3 | g.122285122G>A | CA435425646 | CASR | c.2937G>A (p.Val979=) c.3198G>A (p.Val1066=) c.3168G>A (p.Val1056=) c.2685G>A (p.Val895=) c.2580G>A (p.Val860=) | gnomAD v4 |
| 3 | g.122285122G>C | CA435425645 | CASR | c.2937G>C (p.Val979=) c.3198G>C (p.Val1066=) c.3168G>C (p.Val1056=) c.2685G>C (p.Val895=) c.2580G>C (p.Val860=) | |
| 3 | g.122285122G= | CA1397873291 | CASR | c.2937G= (p.Val979=) c.3198G= (p.Val1066=) c.3168G= (p.Val1056=) c.2685G= (p.Val895=) c.2580G= (p.Val860=) | |
| 3 | g.122285122G>T | CA10614607 | CASR | c.2937G>T (p.Val979=) c.3198G>T (p.Val1066=) c.3168G>T (p.Val1056=) c.2685G>T (p.Val895=) c.2580G>T (p.Val860=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122285123T>A | CA354161672 | CASR | c.2938T>A (p.Ser980Thr) c.3199T>A (p.Ser1067Thr) c.3169T>A (p.Ser1057Thr) c.2686T>A (p.Ser896Thr) c.2581T>A (p.Ser861Thr) | ClinVar dbSNP |
| 3 | g.122285123T>C | CA354161674 | CASR | c.2938T>C (p.Ser980Pro) c.3199T>C (p.Ser1067Pro) c.3169T>C (p.Ser1057Pro) c.2686T>C (p.Ser896Pro) c.2581T>C (p.Ser861Pro) | ClinVar |
| 3 | g.122285123T>G | CA354161676 | CASR | c.2938T>G (p.Ser980Ala) c.3199T>G (p.Ser1067Ala) c.3169T>G (p.Ser1057Ala) c.2686T>G (p.Ser896Ala) c.2581T>G (p.Ser861Ala) | ClinVar |
| 3 | g.122285123T= | CA1397873294 | CASR | c.2938T= (p.Ser980=) c.3199T= (p.Ser1067=) c.3169T= (p.Ser1057=) c.2686T= (p.Ser896=) c.2581T= (p.Ser861=) | |
| 3 | g.122285124C>A | CA354161678 | CASR | c.2939C>A (p.Ser980Tyr) c.3200C>A (p.Ser1067Tyr) c.3170C>A (p.Ser1057Tyr) c.2687C>A (p.Ser896Tyr) c.2582C>A (p.Ser861Tyr) | |
| 3 | g.122285124C>G | CA354161680 | CASR | c.2939C>G (p.Ser980Cys) c.3200C>G (p.Ser1067Cys) c.3170C>G (p.Ser1057Cys) c.2687C>G (p.Ser896Cys) c.2582C>G (p.Ser861Cys) | |
| 3 | g.122285124C>T | CA354161682 | CASR | c.2939C>T (p.Ser980Phe) c.3200C>T (p.Ser1067Phe) c.3170C>T (p.Ser1057Phe) c.2687C>T (p.Ser896Phe) c.2582C>T (p.Ser861Phe) | |
| 3 | g.122285125C>A | CA435425647 | CASR | c.2940C>A (p.Ser980=) c.3201C>A (p.Ser1067=) c.3171C>A (p.Ser1057=) c.2688C>A (p.Ser896=) c.2583C>A (p.Ser861=) | |
| 3 | g.122285125C>G | CA435425648 | CASR | c.2940C>G (p.Ser980=) c.3201C>G (p.Ser1067=) c.3171C>G (p.Ser1057=) c.2688C>G (p.Ser896=) c.2583C>G (p.Ser861=) | |
| 3 | g.122285125C>T | CA435425649 | CASR | c.2940C>T (p.Ser980=) c.3201C>T (p.Ser1067=) c.3171C>T (p.Ser1057=) c.2688C>T (p.Ser896=) c.2583C>T (p.Ser861=) | |
| 3 | g.122285126A= | CA1397873296 | CASR | c.2941A= (p.Ser981=) c.3202A= (p.Ser1068=) c.3172A= (p.Ser1058=) c.2689A= (p.Ser897=) c.2584A= (p.Ser862=) | |
| 3 | g.122285126A>C | CA354161684 | CASR | c.2941A>C (p.Ser981Arg) c.3202A>C (p.Ser1068Arg) c.3172A>C (p.Ser1058Arg) c.2689A>C (p.Ser897Arg) c.2584A>C (p.Ser862Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122285126A>G | CA354161686 | CASR | c.2941A>G (p.Ser981Gly) c.3202A>G (p.Ser1068Gly) c.3172A>G (p.Ser1058Gly) c.2689A>G (p.Ser897Gly) c.2584A>G (p.Ser862Gly) | ClinVar dbSNP |
| 3 | g.122285126A>T | CA354161688 | CASR | c.2941A>T (p.Ser981Cys) c.3202A>T (p.Ser1068Cys) c.3172A>T (p.Ser1058Cys) c.2689A>T (p.Ser897Cys) c.2584A>T (p.Ser862Cys) | |
| 3 | g.122285127G>A | CA354161690 | CASR | c.2942G>A (p.Ser981Asn) c.3203G>A (p.Ser1068Asn) c.3173G>A (p.Ser1058Asn) c.2690G>A (p.Ser897Asn) c.2585G>A (p.Ser862Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122285127G>C | CA354161691 | CASR | c.2942G>C (p.Ser981Thr) c.3203G>C (p.Ser1068Thr) c.3173G>C (p.Ser1058Thr) c.2690G>C (p.Ser897Thr) c.2585G>C (p.Ser862Thr) | |
| 3 | g.122285127G= | CA1397873297 | CASR | c.2942G= (p.Ser981=) c.3203G= (p.Ser1068=) c.3173G= (p.Ser1058=) c.2690G= (p.Ser897=) c.2585G= (p.Ser862=) | |
| 3 | g.122285127G>T | CA354161693 | CASR | c.2942G>T (p.Ser981Ile) c.3203G>T (p.Ser1068Ile) c.3173G>T (p.Ser1058Ile) c.2690G>T (p.Ser897Ile) c.2585G>T (p.Ser862Ile) | |
| 3 | g.122285128T>A | CA354161695 | CASR | c.2943T>A (p.Ser981Arg) c.3204T>A (p.Ser1068Arg) c.3174T>A (p.Ser1058Arg) c.2691T>A (p.Ser897Arg) c.2586T>A (p.Ser862Arg) | |
| 3 | g.122285128T>C | CA435425650 | CASR | c.2943T>C (p.Ser981=) c.3204T>C (p.Ser1068=) c.3174T>C (p.Ser1058=) c.2691T>C (p.Ser897=) c.2586T>C (p.Ser862=) | |
| 3 | g.122285128T>G | CA354161697 | CASR | c.2943T>G (p.Ser981Arg) c.3204T>G (p.Ser1068Arg) c.3174T>G (p.Ser1058Arg) c.2691T>G (p.Ser897Arg) c.2586T>G (p.Ser862Arg) | |
| 3 | g.122285129T>A | CA354161703 | CASR | c.2944T>A (p.Ser982Thr) c.3205T>A (p.Ser1069Thr) c.3175T>A (p.Ser1059Thr) c.2692T>A (p.Ser898Thr) c.2587T>A (p.Ser863Thr) | |
| 3 | g.122285129T>C | CA354161699 | CASR | c.2944T>C (p.Ser982Pro) c.3205T>C (p.Ser1069Pro) c.3175T>C (p.Ser1059Pro) c.2692T>C (p.Ser898Pro) c.2587T>C (p.Ser863Pro) | ClinVar |
| 3 | g.122285129T>G | CA354161701 | CASR | c.2944T>G (p.Ser982Ala) c.3205T>G (p.Ser1069Ala) c.3175T>G (p.Ser1059Ala) c.2692T>G (p.Ser898Ala) c.2587T>G (p.Ser863Ala) | |
| 3 | g.122285130C>A | CA354161704 | CASR | c.2945C>A (p.Ser982Ter) c.3206C>A (p.Ser1069Ter) c.3176C>A (p.Ser1059Ter) c.2693C>A (p.Ser898Ter) c.2588C>A (p.Ser863Ter) | |
| 3 | g.122285130C>G | CA354161705 | CASR | c.2945C>G (p.Ser982Ter) c.3206C>G (p.Ser1069Ter) c.3176C>G (p.Ser1059Ter) c.2693C>G (p.Ser898Ter) c.2588C>G (p.Ser863Ter) | |
| 3 | g.122285130C>T | CA354161707 | CASR | c.2945C>T (p.Ser982Leu) c.3206C>T (p.Ser1069Leu) c.3176C>T (p.Ser1059Leu) c.2693C>T (p.Ser898Leu) c.2588C>T (p.Ser863Leu) | |
| 3 | g.122285131A>C | CA435425651 | CASR | c.2946A>C (p.Ser982=) c.3207A>C (p.Ser1069=) c.3177A>C (p.Ser1059=) c.2694A>C (p.Ser898=) c.2589A>C (p.Ser863=) | |
| 3 | g.122285131A>G | CA435425652 | CASR | c.2946A>G (p.Ser982=) c.3207A>G (p.Ser1069=) c.3177A>G (p.Ser1059=) c.2694A>G (p.Ser898=) c.2589A>G (p.Ser863=) | gnomAD v4 |
| 3 | g.122285131A>T | CA435425653 | CASR | c.2946A>T (p.Ser982=) c.3207A>T (p.Ser1069=) c.3177A>T (p.Ser1059=) c.2694A>T (p.Ser898=) c.2589A>T (p.Ser863=) | |
| 3 | g.122285132C>A | CA354161709 | CASR | c.2947C>A (p.Gln983Lys) c.3208C>A (p.Gln1070Lys) c.3178C>A (p.Gln1060Lys) c.2695C>A (p.Gln899Lys) c.2590C>A (p.Gln864Lys) | |
| 3 | g.122285132C>G | CA354161711 | CASR | c.2947C>G (p.Gln983Glu) c.3208C>G (p.Gln1070Glu) c.3178C>G (p.Gln1060Glu) c.2695C>G (p.Gln899Glu) c.2590C>G (p.Gln864Glu) | |
| 3 | g.122285132C>T | CA354161712 | CASR | c.2947C>T (p.Gln983Ter) c.3208C>T (p.Gln1070Ter) c.3178C>T (p.Gln1060Ter) c.2695C>T (p.Gln899Ter) c.2590C>T (p.Gln864Ter) | |
| 3 | g.122285133A>C | CA354161719 | CASR | c.2948A>C (p.Gln983Pro) c.3209A>C (p.Gln1070Pro) c.3179A>C (p.Gln1060Pro) c.2696A>C (p.Gln899Pro) c.2591A>C (p.Gln864Pro) | |
| 3 | g.122285133A>G | CA354161715 | CASR | c.2948A>G (p.Gln983Arg) c.3209A>G (p.Gln1070Arg) c.3179A>G (p.Gln1060Arg) c.2696A>G (p.Gln899Arg) c.2591A>G (p.Gln864Arg) | |
| 3 | g.122285133A>T | CA354161717 | CASR | c.2948A>T (p.Gln983Leu) c.3209A>T (p.Gln1070Leu) c.3179A>T (p.Gln1060Leu) c.2696A>T (p.Gln899Leu) c.2591A>T (p.Gln864Leu) | |
| 3 | g.122285133_122285142del | CA2667224941 | CASR | c.2948_2957del (p.Gln983ProfsTer13) c.3209_3218del (p.Gln1070ProfsTer13) c.3179_3188del (p.Gln1060ProfsTer13) c.2696_2705del (p.Gln899ProfsTer13) c.2591_2600del (p.Gln864ProfsTer13) | gnomAD v4 |
| 3 | g.122285134G>A | CA435425654 | CASR | c.2949G>A (p.Gln983=) c.3210G>A (p.Gln1070=) c.3180G>A (p.Gln1060=) c.2697G>A (p.Gln899=) c.2592G>A (p.Gln864=) | |
| 3 | g.122285134G>C | CA354161721 | CASR | c.2949G>C (p.Gln983His) c.3210G>C (p.Gln1070His) c.3180G>C (p.Gln1060His) c.2697G>C (p.Gln899His) c.2592G>C (p.Gln864His) | ClinVar dbSNP |
| 3 | g.122285134G>T | CA354161723 | CASR | c.2949G>T (p.Gln983His) c.3210G>T (p.Gln1070His) c.3180G>T (p.Gln1060His) c.2697G>T (p.Gln899His) c.2592G>T (p.Gln864His) | |
| 3 | g.122285135A>C | CA354161724 | CASR | c.2950A>C (p.Ser984Arg) c.3211A>C (p.Ser1071Arg) c.3181A>C (p.Ser1061Arg) c.2698A>C (p.Ser900Arg) c.2593A>C (p.Ser865Arg) | |
| 3 | g.122285135A>G | CA354161725 | CASR | c.2950A>G (p.Ser984Gly) c.3211A>G (p.Ser1071Gly) c.3181A>G (p.Ser1061Gly) c.2698A>G (p.Ser900Gly) c.2593A>G (p.Ser865Gly) | COSMIC |
| 3 | g.122285135A>T | CA354161726 | CASR | c.2950A>T (p.Ser984Cys) c.3211A>T (p.Ser1071Cys) c.3181A>T (p.Ser1061Cys) c.2698A>T (p.Ser900Cys) c.2593A>T (p.Ser865Cys) | |
| 3 | g.122285136G>A | CA354161727 | CASR | c.2951G>A (p.Ser984Asn) c.3212G>A (p.Ser1071Asn) c.3182G>A (p.Ser1061Asn) c.2699G>A (p.Ser900Asn) c.2594G>A (p.Ser865Asn) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122285136G>C | CA354161729 | CASR | c.2951G>C (p.Ser984Thr) c.3212G>C (p.Ser1071Thr) c.3182G>C (p.Ser1061Thr) c.2699G>C (p.Ser900Thr) c.2594G>C (p.Ser865Thr) | ClinVar gnomAD v4 |
| 3 | g.122285136G= | CA1397873298 | CASR | c.2951G= (p.Ser984=) c.3212G= (p.Ser1071=) c.3182G= (p.Ser1061=) c.2699G= (p.Ser900=) c.2594G= (p.Ser865=) | |
| 3 | g.122285136G>T | CA354161728 | CASR | c.2951G>T (p.Ser984Ile) c.3212G>T (p.Ser1071Ile) c.3182G>T (p.Ser1061Ile) c.2699G>T (p.Ser900Ile) c.2594G>T (p.Ser865Ile) | |
| 3 | g.122285137C>A | CA354161730 | CASR | c.2952C>A (p.Ser984Arg) c.3213C>A (p.Ser1071Arg) c.3183C>A (p.Ser1061Arg) c.2700C>A (p.Ser900Arg) c.2595C>A (p.Ser865Arg) | gnomAD v4 |
| 3 | g.122285137C>G | CA354161731 | CASR | c.2952C>G (p.Ser984Arg) c.3213C>G (p.Ser1071Arg) c.3183C>G (p.Ser1061Arg) c.2700C>G (p.Ser900Arg) c.2595C>G (p.Ser865Arg) | |
| 3 | g.122285137C>T | CA435425658 | CASR | c.2952C>T (p.Ser984=) c.3213C>T (p.Ser1071=) c.3183C>T (p.Ser1061=) c.2700C>T (p.Ser900=) c.2595C>T (p.Ser865=) | ClinVar gnomAD v4 |
| 3 | g.122285138T>A | CA354161732 | CASR | c.2953T>A (p.Phe985Ile) c.3214T>A (p.Phe1072Ile) c.3184T>A (p.Phe1062Ile) c.2701T>A (p.Phe901Ile) c.2596T>A (p.Phe866Ile) | |
| 3 | g.122285138T>C | CA354161733 | CASR | c.2953T>C (p.Phe985Leu) c.3214T>C (p.Phe1072Leu) c.3184T>C (p.Phe1062Leu) c.2701T>C (p.Phe901Leu) c.2596T>C (p.Phe866Leu) | |
| 3 | g.122285138T>G | CA354161734 | CASR | c.2953T>G (p.Phe985Val) c.3214T>G (p.Phe1072Val) c.3184T>G (p.Phe1062Val) c.2701T>G (p.Phe901Val) c.2596T>G (p.Phe866Val) | |
| 3 | g.122285139T>A | CA354161735 | CASR | c.2954T>A (p.Phe985Tyr) c.3215T>A (p.Phe1072Tyr) c.3185T>A (p.Phe1062Tyr) c.2702T>A (p.Phe901Tyr) c.2597T>A (p.Phe866Tyr) | |
| 3 | g.122285139T>C | CA354161736 | CASR | c.2954T>C (p.Phe985Ser) c.3215T>C (p.Phe1072Ser) c.3185T>C (p.Phe1062Ser) c.2702T>C (p.Phe901Ser) c.2597T>C (p.Phe866Ser) | |
| 3 | g.122285139T>G | CA354161737 | CASR | c.2954T>G (p.Phe985Cys) c.3215T>G (p.Phe1072Cys) c.3185T>G (p.Phe1062Cys) c.2702T>G (p.Phe901Cys) c.2597T>G (p.Phe866Cys) | |
| 3 | g.122285140T>A | CA354161738 | CASR | c.2955T>A (p.Phe985Leu) c.3216T>A (p.Phe1072Leu) c.3186T>A (p.Phe1062Leu) c.2703T>A (p.Phe901Leu) c.2598T>A (p.Phe866Leu) | |
| 3 | g.122285140T>C | CA2569943 | CASR | c.2955T>C (p.Phe985=) c.3216T>C (p.Phe1072=) c.3186T>C (p.Phe1062=) c.2703T>C (p.Phe901=) c.2598T>C (p.Phe866=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122285140T>G | CA354161739 | CASR | c.2955T>G (p.Phe985Leu) c.3216T>G (p.Phe1072Leu) c.3186T>G (p.Phe1062Leu) c.2703T>G (p.Phe901Leu) c.2598T>G (p.Phe866Leu) | |
| 3 | g.122285140T= | CA1397873300 | CASR | c.2955T= (p.Phe985=) c.3216T= (p.Phe1072=) c.3186T= (p.Phe1062=) c.2703T= (p.Phe901=) c.2598T= (p.Phe866=) | |
| 3 | g.122285141G>A | CA2569944 | CASR | c.2956G>A (p.Val986Ile) c.3217G>A (p.Val1073Ile) c.3187G>A (p.Val1063Ile) c.2704G>A (p.Val902Ile) c.2599G>A (p.Val867Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122285141G>C | CA354161741 | CASR | c.2956G>C (p.Val986Leu) c.3217G>C (p.Val1073Leu) c.3187G>C (p.Val1063Leu) c.2704G>C (p.Val902Leu) c.2599G>C (p.Val867Leu) | gnomAD v4 |
| 3 | g.122285141G= | CA1397873301 | CASR | c.2956G= (p.Val986=) c.3217G= (p.Val1073=) c.3187G= (p.Val1063=) c.2704G= (p.Val902=) c.2599G= (p.Val867=) | |
| 3 | g.122285141G>T | CA354161740 | CASR | c.2956G>T (p.Val986Phe) c.3217G>T (p.Val1073Phe) c.3187G>T (p.Val1063Phe) c.2704G>T (p.Val902Phe) c.2599G>T (p.Val867Phe) | |
| 3 | g.122285142T>A | CA354161742 | CASR | c.2957T>A (p.Val986Asp) c.3218T>A (p.Val1073Asp) c.3188T>A (p.Val1063Asp) c.2705T>A (p.Val902Asp) c.2600T>A (p.Val867Asp) | |
| 3 | g.122285142T>C | CA354161744 | CASR | c.2957T>C (p.Val986Ala) c.3218T>C (p.Val1073Ala) c.3188T>C (p.Val1063Ala) c.2705T>C (p.Val902Ala) c.2600T>C (p.Val867Ala) | COSMIC |
| 3 | g.122285142T>G | CA354161743 | CASR | c.2957T>G (p.Val986Gly) c.3218T>G (p.Val1073Gly) c.3188T>G (p.Val1063Gly) c.2705T>G (p.Val902Gly) c.2600T>G (p.Val867Gly) | |
| 3 | g.122285143C>A | CA435425664 | CASR | c.2958C>A (p.Val986=) c.3219C>A (p.Val1073=) c.3189C>A (p.Val1063=) c.2706C>A (p.Val902=) c.2601C>A (p.Val867=) | |
| 3 | g.122285143C>G | CA435425663 | CASR | c.2958C>G (p.Val986=) c.3219C>G (p.Val1073=) c.3189C>G (p.Val1063=) c.2706C>G (p.Val902=) c.2601C>G (p.Val867=) | |
| 3 | g.122285143C>T | CA435425662 | CASR | c.2958C>T (p.Val986=) c.3219C>T (p.Val1073=) c.3189C>T (p.Val1063=) c.2706C>T (p.Val902=) c.2601C>T (p.Val867=) | |
| 3 | g.122285144A>C | CA354161745 | CASR | c.2959A>C (p.Ile987Leu) c.3220A>C (p.Ile1074Leu) c.3190A>C (p.Ile1064Leu) c.2707A>C (p.Ile903Leu) c.2602A>C (p.Ile868Leu) | |
| 3 | g.122285144A>G | CA354161746 | CASR | c.2959A>G (p.Ile987Val) c.3220A>G (p.Ile1074Val) c.3190A>G (p.Ile1064Val) c.2707A>G (p.Ile903Val) c.2602A>G (p.Ile868Val) | ClinVar dbSNP |
| 3 | g.122285144A>T | CA354161747 | CASR | c.2959A>T (p.Ile987Phe) c.3220A>T (p.Ile1074Phe) c.3190A>T (p.Ile1064Phe) c.2707A>T (p.Ile903Phe) c.2602A>T (p.Ile868Phe) | gnomAD v4 |
| 3 | g.122285145T>A | CA354161748 | CASR | c.2960T>A (p.Ile987Asn) c.3221T>A (p.Ile1074Asn) c.3191T>A (p.Ile1064Asn) c.2708T>A (p.Ile903Asn) c.2603T>A (p.Ile868Asn) | |
| 3 | g.122285145T>C | CA354161749 | CASR | c.2960T>C (p.Ile987Thr) c.3221T>C (p.Ile1074Thr) c.3191T>C (p.Ile1064Thr) c.2708T>C (p.Ile903Thr) c.2603T>C (p.Ile868Thr) | |
| 3 | g.122285145T>G | CA354161750 | CASR | c.2960T>G (p.Ile987Ser) c.3221T>G (p.Ile1074Ser) c.3191T>G (p.Ile1064Ser) c.2708T>G (p.Ile903Ser) c.2603T>G (p.Ile868Ser) | |
| 3 | g.122285146C>A | CA435425666 | CASR | c.2961C>A (p.Ile987=) c.3222C>A (p.Ile1074=) c.3192C>A (p.Ile1064=) c.2709C>A (p.Ile903=) c.2604C>A (p.Ile868=) | |
| 3 | g.122285146C>G | CA354161751 | CASR | c.2961C>G (p.Ile987Met) c.3222C>G (p.Ile1074Met) c.3192C>G (p.Ile1064Met) c.2709C>G (p.Ile903Met) c.2604C>G (p.Ile868Met) | |
| 3 | g.122285146C>T | CA435425667 | CASR | c.2961C>T (p.Ile987=) c.3222C>T (p.Ile1074=) c.3192C>T (p.Ile1064=) c.2709C>T (p.Ile903=) c.2604C>T (p.Ile868=) | |
| 3 | g.122285147del | CA2586972879 | CASR | c.2962del (p.Ser988ValfsTer11) c.3223del (p.Ser1075ValfsTer11) c.3193del (p.Ser1065ValfsTer11) c.2710del (p.Ser904ValfsTer11) c.2605del (p.Ser869ValfsTer11) | |
| 3 | g.122285147A= | CA1397873303 | CASR | c.2962A= (p.Ser988=) c.3223A= (p.Ser1075=) c.3193A= (p.Ser1065=) c.2710A= (p.Ser904=) c.2605A= (p.Ser869=) | |
| 3 | g.122285147A>C | CA354161752 | CASR | c.2962A>C (p.Ser988Arg) c.3223A>C (p.Ser1075Arg) c.3193A>C (p.Ser1065Arg) c.2710A>C (p.Ser904Arg) c.2605A>C (p.Ser869Arg) | |
| 3 | g.122285147A>G | CA2569945 | CASR | c.2962A>G (p.Ser988Gly) c.3223A>G (p.Ser1075Gly) c.3193A>G (p.Ser1065Gly) c.2710A>G (p.Ser904Gly) c.2605A>G (p.Ser869Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285147A>T | CA354161753 | CASR | c.2962A>T (p.Ser988Cys) c.3223A>T (p.Ser1075Cys) c.3193A>T (p.Ser1065Cys) c.2710A>T (p.Ser904Cys) c.2605A>T (p.Ser869Cys) | |
| 3 | g.122285148G>A | CA82749637 | CASR | c.2963G>A (p.Ser988Asn) c.3224G>A (p.Ser1075Asn) c.3194G>A (p.Ser1065Asn) c.2711G>A (p.Ser904Asn) c.2606G>A (p.Ser869Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122285148G>C | CA354161755 | CASR | c.2963G>C (p.Ser988Thr) c.3224G>C (p.Ser1075Thr) c.3194G>C (p.Ser1065Thr) c.2711G>C (p.Ser904Thr) c.2606G>C (p.Ser869Thr) | |
| 3 | g.122285148G= | CA1397873306 | CASR | c.2963G= (p.Ser988=) c.3224G= (p.Ser1075=) c.3194G= (p.Ser1065=) c.2711G= (p.Ser904=) c.2606G= (p.Ser869=) | |
| 3 | g.122285148G>T | CA354161754 | CASR | c.2963G>T (p.Ser988Ile) c.3224G>T (p.Ser1075Ile) c.3194G>T (p.Ser1065Ile) c.2711G>T (p.Ser904Ile) c.2606G>T (p.Ser869Ile) | |
| 3 | g.122285149T>A | CA354161756 | CASR | c.2964T>A (p.Ser988Arg) c.3225T>A (p.Ser1075Arg) c.3195T>A (p.Ser1065Arg) c.2712T>A (p.Ser904Arg) c.2607T>A (p.Ser869Arg) | |
| 3 | g.122285149T>C | CA435425669 | CASR | c.2964T>C (p.Ser988=) c.3225T>C (p.Ser1075=) c.3195T>C (p.Ser1065=) c.2712T>C (p.Ser904=) c.2607T>C (p.Ser869=) | gnomAD v4 |
| 3 | g.122285149T>G | CA354161757 | CASR | c.2964T>G (p.Ser988Arg) c.3225T>G (p.Ser1075Arg) c.3195T>G (p.Ser1065Arg) c.2712T>G (p.Ser904Arg) c.2607T>G (p.Ser869Arg) | |
| 3 | g.122285150G>A | CA354161758 | CASR | c.2965G>A (p.Gly989Ser) c.3226G>A (p.Gly1076Ser) c.3196G>A (p.Gly1066Ser) c.2713G>A (p.Gly905Ser) c.2608G>A (p.Gly870Ser) | ClinVar |
| 3 | g.122285150G>C | CA354161759 | CASR | c.2965G>C (p.Gly989Arg) c.3226G>C (p.Gly1076Arg) c.3196G>C (p.Gly1066Arg) c.2713G>C (p.Gly905Arg) c.2608G>C (p.Gly870Arg) | COSMIC |
| 3 | g.122285150G>T | CA354161760 | CASR | c.2965G>T (p.Gly989Cys) c.3226G>T (p.Gly1076Cys) c.3196G>T (p.Gly1066Cys) c.2713G>T (p.Gly905Cys) c.2608G>T (p.Gly870Cys) | |
| 3 | g.122285151G>A | CA2569946 | CASR | c.2966G>A (p.Gly989Asp) c.3227G>A (p.Gly1076Asp) c.3197G>A (p.Gly1066Asp) c.2714G>A (p.Gly905Asp) c.2609G>A (p.Gly870Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122285151G>C | CA354161761 | CASR | c.2966G>C (p.Gly989Ala) c.3227G>C (p.Gly1076Ala) c.3197G>C (p.Gly1066Ala) c.2714G>C (p.Gly905Ala) c.2609G>C (p.Gly870Ala) | ClinVar |
| 3 | g.122285151G= | CA1397873308 | CASR | c.2966G= (p.Gly989=) c.3227G= (p.Gly1076=) c.3197G= (p.Gly1066=) c.2714G= (p.Gly905=) c.2609G= (p.Gly870=) | |
| 3 | g.122285151G>T | CA354161762 | CASR | c.2966G>T (p.Gly989Val) c.3227G>T (p.Gly1076Val) c.3197G>T (p.Gly1066Val) c.2714G>T (p.Gly905Val) c.2609G>T (p.Gly870Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122285152T>A | CA435425670 | CASR | c.2967T>A (p.Gly989=) c.3228T>A (p.Gly1076=) c.3198T>A (p.Gly1066=) c.2715T>A (p.Gly905=) c.2610T>A (p.Gly870=) | |
| 3 | g.122285152T>C | CA435425672 | CASR | c.2967T>C (p.Gly989=) c.3228T>C (p.Gly1076=) c.3198T>C (p.Gly1066=) c.2715T>C (p.Gly905=) c.2610T>C (p.Gly870=) | |
| 3 | g.122285152T>G | CA435425671 | CASR | c.2967T>G (p.Gly989=) c.3228T>G (p.Gly1076=) c.3198T>G (p.Gly1066=) c.2715T>G (p.Gly905=) c.2610T>G (p.Gly870=) | |
| 3 | g.122285153G>A | CA354161763 | CASR | c.2968G>A (p.Gly990Arg) c.3229G>A (p.Gly1077Arg) c.3199G>A (p.Gly1067Arg) c.2716G>A (p.Gly906Arg) c.2611G>A (p.Gly871Arg) | ClinVar |
| 3 | g.122285153G>C | CA354161764 | CASR | c.2968G>C (p.Gly990Arg) c.3229G>C (p.Gly1077Arg) c.3199G>C (p.Gly1067Arg) c.2716G>C (p.Gly906Arg) c.2611G>C (p.Gly871Arg) | |
| 3 | g.122285153G>T | CA354161765 | CASR | c.2968G>T (p.Gly990Ter) c.3229G>T (p.Gly1077Ter) c.3199G>T (p.Gly1067Ter) c.2716G>T (p.Gly906Ter) c.2611G>T (p.Gly871Ter) | |
| 3 | g.122285154G>A | CA354161767 | CASR | c.2969G>A (p.Gly990Glu) c.3230G>A (p.Gly1077Glu) c.3200G>A (p.Gly1067Glu) c.2717G>A (p.Gly906Glu) c.2612G>A (p.Gly871Glu) | ClinVar dbSNP |
| 3 | g.122285154G>C | CA354161768 | CASR | c.2969G>C (p.Gly990Ala) c.3230G>C (p.Gly1077Ala) c.3200G>C (p.Gly1067Ala) c.2717G>C (p.Gly906Ala) c.2612G>C (p.Gly871Ala) | |
| 3 | g.122285154G>T | CA354161766 | CASR | c.2969G>T (p.Gly990Val) c.3230G>T (p.Gly1077Val) c.3200G>T (p.Gly1067Val) c.2717G>T (p.Gly906Val) c.2612G>T (p.Gly871Val) | |
| 3 | g.122285155A= | CA1397873310 | CASR | c.2970A= (p.Gly990=) c.3231A= (p.Gly1077=) c.3201A= (p.Gly1067=) c.2718A= (p.Gly906=) c.2613A= (p.Gly871=) | |
| 3 | g.122285155A>C | CA435425673 | CASR | c.2970A>C (p.Gly990=) c.3231A>C (p.Gly1077=) c.3201A>C (p.Gly1067=) c.2718A>C (p.Gly906=) c.2613A>C (p.Gly871=) | |
| 3 | g.122285155A>G | CA82749640 | CASR | c.2970A>G (p.Gly990=) c.3231A>G (p.Gly1077=) c.3201A>G (p.Gly1067=) c.2718A>G (p.Gly906=) c.2613A>G (p.Gly871=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122285155A>T | CA435425675 | CASR | c.2970A>T (p.Gly990=) c.3231A>T (p.Gly1077=) c.3201A>T (p.Gly1067=) c.2718A>T (p.Gly906=) c.2613A>T (p.Gly871=) | |
| 3 | g.122285156G>A | CA354161769 | CASR | c.2971G>A (p.Gly991Ser) c.3232G>A (p.Gly1078Ser) c.3202G>A (p.Gly1068Ser) c.2719G>A (p.Gly907Ser) c.2614G>A (p.Gly872Ser) | |
| 3 | g.122285156G>C | CA354161770 | CASR | c.2971G>C (p.Gly991Arg) c.3232G>C (p.Gly1078Arg) c.3202G>C (p.Gly1068Arg) c.2719G>C (p.Gly907Arg) c.2614G>C (p.Gly872Arg) | |
| 3 | g.122285156G>T | CA354161771 | CASR | c.2971G>T (p.Gly991Cys) c.3232G>T (p.Gly1078Cys) c.3202G>T (p.Gly1068Cys) c.2719G>T (p.Gly907Cys) c.2614G>T (p.Gly872Cys) | |
| 3 | g.122285157G>A | CA354161772 | CASR | c.2972G>A (p.Gly991Asp) c.3233G>A (p.Gly1078Asp) c.3203G>A (p.Gly1068Asp) c.2720G>A (p.Gly907Asp) c.2615G>A (p.Gly872Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122285157G>C | CA354161773 | CASR | c.2972G>C (p.Gly991Ala) c.3233G>C (p.Gly1078Ala) c.3203G>C (p.Gly1068Ala) c.2720G>C (p.Gly907Ala) c.2615G>C (p.Gly872Ala) | ClinVar |
| 3 | g.122285157G= | CA1397873312 | CASR | c.2972G= (p.Gly991=) c.3233G= (p.Gly1078=) c.3203G= (p.Gly1068=) c.2720G= (p.Gly907=) c.2615G= (p.Gly872=) | |
| 3 | g.122285157G>T | CA354161774 | CASR | c.2972G>T (p.Gly991Val) c.3233G>T (p.Gly1078Val) c.3203G>T (p.Gly1068Val) c.2720G>T (p.Gly907Val) c.2615G>T (p.Gly872Val) | |
| 3 | g.122285158C>A | CA435425677 | CASR | c.2973C>A (p.Gly991=) c.3234C>A (p.Gly1078=) c.3204C>A (p.Gly1068=) c.2721C>A (p.Gly907=) c.2616C>A (p.Gly872=) | |
| 3 | g.122285158C= | CA1397873314 | CASR | c.2973C= (p.Gly991=) c.3234C= (p.Gly1078=) c.3204C= (p.Gly1068=) c.2721C= (p.Gly907=) c.2616C= (p.Gly872=) | |
| 3 | g.122285158C>G | CA82749641 | CASR | c.2973C>G (p.Gly991=) c.3234C>G (p.Gly1078=) c.3204C>G (p.Gly1068=) c.2721C>G (p.Gly907=) c.2616C>G (p.Gly872=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122285158C>T | CA435425679 | CASR | c.2973C>T (p.Gly991=) c.3234C>T (p.Gly1078=) c.3204C>T (p.Gly1068=) c.2721C>T (p.Gly907=) c.2616C>T (p.Gly872=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122285159A>C | CA354161775 | CASR | c.2974A>C (p.Ser992Arg) c.3235A>C (p.Ser1079Arg) c.3205A>C (p.Ser1069Arg) c.2722A>C (p.Ser908Arg) c.2617A>C (p.Ser873Arg) | |
| 3 | g.122285159A>G | CA354161776 | CASR | c.2974A>G (p.Ser992Gly) c.3235A>G (p.Ser1079Gly) c.3205A>G (p.Ser1069Gly) c.2722A>G (p.Ser908Gly) c.2617A>G (p.Ser873Gly) | |
| 3 | g.122285159A>T | CA354161777 | CASR | c.2974A>T (p.Ser992Cys) c.3235A>T (p.Ser1079Cys) c.3205A>T (p.Ser1069Cys) c.2722A>T (p.Ser908Cys) c.2617A>T (p.Ser873Cys) | |
| 3 | g.122285160G>A | CA354161779 | CASR | c.2975G>A (p.Ser992Asn) c.3236G>A (p.Ser1079Asn) c.3206G>A (p.Ser1069Asn) c.2723G>A (p.Ser908Asn) c.2618G>A (p.Ser873Asn) | ClinVar COSMIC |
| 3 | g.122285160G>C | CA354161780 | CASR | c.2975G>C (p.Ser992Thr) c.3236G>C (p.Ser1079Thr) c.3206G>C (p.Ser1069Thr) c.2723G>C (p.Ser908Thr) c.2618G>C (p.Ser873Thr) | |
| 3 | g.122285160G>T | CA354161778 | CASR | c.2975G>T (p.Ser992Ile) c.3236G>T (p.Ser1079Ile) c.3206G>T (p.Ser1069Ile) c.2723G>T (p.Ser908Ile) c.2618G>T (p.Ser873Ile) | |
| 3 | g.122285161del | CA2573136470 | CASR | c.2976del (p.Ser992ArgfsTer7) c.3237del (p.Ser1079ArgfsTer7) c.3207del (p.Ser1069ArgfsTer7) c.2724del (p.Ser908ArgfsTer7) c.2619del (p.Ser873ArgfsTer7) | ClinVar dbSNP |
| 3 | g.122285161C>A | CA354161781 | CASR | c.2976C>A (p.Ser992Arg) c.3237C>A (p.Ser1079Arg) c.3207C>A (p.Ser1069Arg) c.2724C>A (p.Ser908Arg) c.2619C>A (p.Ser873Arg) | |
| 3 | g.122285161C>G | CA354161782 | CASR | c.2976C>G (p.Ser992Arg) c.3237C>G (p.Ser1079Arg) c.3207C>G (p.Ser1069Arg) c.2724C>G (p.Ser908Arg) c.2619C>G (p.Ser873Arg) | |
| 3 | g.122285161C>T | CA435425681 | CASR | c.2976C>T (p.Ser992=) c.3237C>T (p.Ser1079=) c.3207C>T (p.Ser1069=) c.2724C>T (p.Ser908=) c.2619C>T (p.Ser873=) | ClinVar |
| 3 | g.122285162A= | CA1397873316 | CASR | c.2977A= (p.Thr993=) c.3238A= (p.Thr1080=) c.3208A= (p.Thr1070=) c.2725A= (p.Thr909=) c.2620A= (p.Thr874=) | |
| 3 | g.122285162A>C | CA354161783 | CASR | c.2977A>C (p.Thr993Pro) c.3238A>C (p.Thr1080Pro) c.3208A>C (p.Thr1070Pro) c.2725A>C (p.Thr909Pro) c.2620A>C (p.Thr874Pro) | |
| 3 | g.122285162A>G | CA354161784 | CASR | c.2977A>G (p.Thr993Ala) c.3238A>G (p.Thr1080Ala) c.3208A>G (p.Thr1070Ala) c.2725A>G (p.Thr909Ala) c.2620A>G (p.Thr874Ala) | gnomAD v4 |
| 3 | g.122285162A>T | CA82749645 | CASR | c.2977A>T (p.Thr993Ser) c.3238A>T (p.Thr1080Ser) c.3208A>T (p.Thr1070Ser) c.2725A>T (p.Thr909Ser) c.2620A>T (p.Thr874Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122285163C>A | CA354161787 | CASR | c.2978C>A (p.Thr993Asn) c.3239C>A (p.Thr1080Asn) c.3209C>A (p.Thr1070Asn) c.2726C>A (p.Thr909Asn) c.2621C>A (p.Thr874Asn) | |
| 3 | g.122285163C>G | CA354161785 | CASR | c.2978C>G (p.Thr993Ser) c.3239C>G (p.Thr1080Ser) c.3209C>G (p.Thr1070Ser) c.2726C>G (p.Thr909Ser) c.2621C>G (p.Thr874Ser) | |
| 3 | g.122285163C>T | CA354161786 | CASR | c.2978C>T (p.Thr993Ile) c.3239C>T (p.Thr1080Ile) c.3209C>T (p.Thr1070Ile) c.2726C>T (p.Thr909Ile) c.2621C>T (p.Thr874Ile) | |
| 3 | g.122285164T>A | CA435425685 | CASR | c.2979T>A (p.Thr993=) c.3240T>A (p.Thr1080=) c.3210T>A (p.Thr1070=) c.2727T>A (p.Thr909=) c.2622T>A (p.Thr874=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285164T>C | CA435425686 | CASR | c.2979T>C (p.Thr993=) c.3240T>C (p.Thr1080=) c.3210T>C (p.Thr1070=) c.2727T>C (p.Thr909=) c.2622T>C (p.Thr874=) | |
| 3 | g.122285164T>G | CA435425687 | CASR | c.2979T>G (p.Thr993=) c.3240T>G (p.Thr1080=) c.3210T>G (p.Thr1070=) c.2727T>G (p.Thr909=) c.2622T>G (p.Thr874=) | |
| 3 | g.122285164T= | CA1397873318 | CASR | c.2979T= (p.Thr993=) c.3240T= (p.Thr1080=) c.3210T= (p.Thr1070=) c.2727T= (p.Thr909=) c.2622T= (p.Thr874=) | |
| 3 | g.122285165G>A | CA354161788 | CASR | c.2980G>A (p.Val994Ile) c.3241G>A (p.Val1081Ile) c.3211G>A (p.Val1071Ile) c.2728G>A (p.Val910Ile) c.2623G>A (p.Val875Ile) | ClinVar dbSNP |
| 3 | g.122285165G>C | CA354161789 | CASR | c.2980G>C (p.Val994Leu) c.3241G>C (p.Val1081Leu) c.3211G>C (p.Val1071Leu) c.2728G>C (p.Val910Leu) c.2623G>C (p.Val875Leu) | |
| 3 | g.122285165G= | CA1397873320 | CASR | c.2980G= (p.Val994=) c.3241G= (p.Val1081=) c.3211G= (p.Val1071=) c.2728G= (p.Val910=) c.2623G= (p.Val875=) | |
| 3 | g.122285165G>T | CA354161790 | CASR | c.2980G>T (p.Val994Phe) c.3241G>T (p.Val1081Phe) c.3211G>T (p.Val1071Phe) c.2728G>T (p.Val910Phe) c.2623G>T (p.Val875Phe) | |
| 3 | g.122285166T>A | CA354161791 | CASR | c.2981T>A (p.Val994Asp) c.3242T>A (p.Val1081Asp) c.3212T>A (p.Val1071Asp) c.2729T>A (p.Val910Asp) c.2624T>A (p.Val875Asp) | COSMIC |
| 3 | g.122285166T>C | CA354161792 | CASR | c.2981T>C (p.Val994Ala) c.3242T>C (p.Val1081Ala) c.3212T>C (p.Val1071Ala) c.2729T>C (p.Val910Ala) c.2624T>C (p.Val875Ala) | |
| 3 | g.122285166T>G | CA354161793 | CASR | c.2981T>G (p.Val994Gly) c.3242T>G (p.Val1081Gly) c.3212T>G (p.Val1071Gly) c.2729T>G (p.Val910Gly) c.2624T>G (p.Val875Gly) | |
| 3 | g.122285167T>A | CA435425691 | CASR | c.2982T>A (p.Val994=) c.3243T>A (p.Val1081=) c.3213T>A (p.Val1071=) c.2730T>A (p.Val910=) c.2625T>A (p.Val875=) | |
| 3 | g.122285167T>C | CA435425689 | CASR | c.2982T>C (p.Val994=) c.3243T>C (p.Val1081=) c.3213T>C (p.Val1071=) c.2730T>C (p.Val910=) c.2625T>C (p.Val875=) | |
| 3 | g.122285167T>G | CA435425690 | CASR | c.2982T>G (p.Val994=) c.3243T>G (p.Val1081=) c.3213T>G (p.Val1071=) c.2730T>G (p.Val910=) c.2625T>G (p.Val875=) | |
| 3 | g.122285168A>C | CA354161795 | CASR | c.2983A>C (p.Thr995Pro) c.3244A>C (p.Thr1082Pro) c.3214A>C (p.Thr1072Pro) c.2731A>C (p.Thr911Pro) c.2626A>C (p.Thr876Pro) | |
| 3 | g.122285168A>G | CA354161796 | CASR | c.2983A>G (p.Thr995Ala) c.3244A>G (p.Thr1082Ala) c.3214A>G (p.Thr1072Ala) c.2731A>G (p.Thr911Ala) c.2626A>G (p.Thr876Ala) | |
| 3 | g.122285168A>T | CA354161794 | CASR | c.2983A>T (p.Thr995Ser) c.3244A>T (p.Thr1082Ser) c.3214A>T (p.Thr1072Ser) c.2731A>T (p.Thr911Ser) c.2626A>T (p.Thr876Ser) | |
| 3 | g.122285169C>A | CA354161799 | CASR | c.2984C>A (p.Thr995Lys) c.3245C>A (p.Thr1082Lys) c.3215C>A (p.Thr1072Lys) c.2732C>A (p.Thr911Lys) c.2627C>A (p.Thr876Lys) | |
| 3 | g.122285169C>G | CA354161797 | CASR | c.2984C>G (p.Thr995Arg) c.3245C>G (p.Thr1082Arg) c.3215C>G (p.Thr1072Arg) c.2732C>G (p.Thr911Arg) c.2627C>G (p.Thr876Arg) | |
| 3 | g.122285169C>T | CA354161798 | CASR | c.2984C>T (p.Thr995Ile) c.3245C>T (p.Thr1082Ile) c.3215C>T (p.Thr1072Ile) c.2732C>T (p.Thr911Ile) c.2627C>T (p.Thr876Ile) | ClinVar dbSNP |
| 3 | g.122285170A= | CA1397873322 | CASR | c.2985A= (p.Thr995=) c.3246A= (p.Thr1082=) c.3216A= (p.Thr1072=) c.2733A= (p.Thr911=) c.2628A= (p.Thr876=) | |
| 3 | g.122285170A>C | CA435425693 | CASR | c.2985A>C (p.Thr995=) c.3246A>C (p.Thr1082=) c.3216A>C (p.Thr1072=) c.2733A>C (p.Thr911=) c.2628A>C (p.Thr876=) | ClinVar dbSNP |
| 3 | g.122285170A>G | CA435425694 | CASR | c.2985A>G (p.Thr995=) c.3246A>G (p.Thr1082=) c.3216A>G (p.Thr1072=) c.2733A>G (p.Thr911=) c.2628A>G (p.Thr876=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122285170A>T | CA435425695 | CASR | c.2985A>T (p.Thr995=) c.3246A>T (p.Thr1082=) c.3216A>T (p.Thr1072=) c.2733A>T (p.Thr911=) c.2628A>T (p.Thr876=) | |
| 3 | g.122285171G>A | CA354161800 | CASR | c.2986G>A (p.Glu996Lys) c.3247G>A (p.Glu1083Lys) c.3217G>A (p.Glu1073Lys) c.2734G>A (p.Glu912Lys) c.2629G>A (p.Glu877Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122285171G>C | CA354161801 | CASR | c.2986G>C (p.Glu996Gln) c.3247G>C (p.Glu1083Gln) c.3217G>C (p.Glu1073Gln) c.2734G>C (p.Glu912Gln) c.2629G>C (p.Glu877Gln) | |
| 3 | g.122285171G= | CA1397873324 | CASR | c.2986G= (p.Glu996=) c.3247G= (p.Glu1083=) c.3217G= (p.Glu1073=) c.2734G= (p.Glu912=) c.2629G= (p.Glu877=) | |
| 3 | g.122285171G>T | CA354161802 | CASR | c.2986G>T (p.Glu996Ter) c.3247G>T (p.Glu1083Ter) c.3217G>T (p.Glu1073Ter) c.2734G>T (p.Glu912Ter) c.2629G>T (p.Glu877Ter) | |
| 3 | g.122285171_122285172delinsGA | CA1397873325 | CASR | c.2986_2987delinsGA (p.Glu996=) c.3247_3248delinsGA (p.Glu1083=) c.3217_3218delinsGA (p.Glu1073=) c.2734_2735delinsGA (p.Glu912=) c.2629_2630delinsGA (p.Glu877=) | |
| 3 | g.122285172A>C | CA354161803 | CASR | c.2987A>C (p.Glu996Ala) c.3248A>C (p.Glu1083Ala) c.3218A>C (p.Glu1073Ala) c.2735A>C (p.Glu912Ala) c.2630A>C (p.Glu877Ala) | |
| 3 | g.122285172A>G | CA354161804 | CASR | c.2987A>G (p.Glu996Gly) c.3248A>G (p.Glu1083Gly) c.3218A>G (p.Glu1073Gly) c.2735A>G (p.Glu912Gly) c.2630A>G (p.Glu877Gly) | |
| 3 | g.122285172A>T | CA354161805 | CASR | c.2987A>T (p.Glu996Val) c.3248A>T (p.Glu1083Val) c.3218A>T (p.Glu1073Val) c.2735A>T (p.Glu912Val) c.2630A>T (p.Glu877Val) | |
| 3 | g.122285175del | CA1052945337 | CASR | c.2990del (p.Asn997ThrfsTer2) c.3251del (p.Asn1084ThrfsTer2) c.3221del (p.Asn1074ThrfsTer2) c.2738del (p.Asn913ThrfsTer2) c.2633del (p.Asn878ThrfsTer2) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122285173A>C | CA354161806 | CASR | c.2988A>C (p.Glu996Asp) c.3249A>C (p.Glu1083Asp) c.3219A>C (p.Glu1073Asp) c.2736A>C (p.Glu912Asp) c.2631A>C (p.Glu877Asp) | |
| 3 | g.122285173A>G | CA435425697 | CASR | c.2988A>G (p.Glu996=) c.3249A>G (p.Glu1083=) c.3219A>G (p.Glu1073=) c.2736A>G (p.Glu912=) c.2631A>G (p.Glu877=) | |
| 3 | g.122285173A>T | CA354161807 | CASR | c.2988A>T (p.Glu996Asp) c.3249A>T (p.Glu1083Asp) c.3219A>T (p.Glu1073Asp) c.2736A>T (p.Glu912Asp) c.2631A>T (p.Glu877Asp) | |
| 3 | g.122285174A= | CA1397873328 | CASR | c.2989A= (p.Asn997=) c.3250A= (p.Asn1084=) c.3220A= (p.Asn1074=) c.2737A= (p.Asn913=) c.2632A= (p.Asn878=) | |
| 3 | g.122285174A>C | CA354161808 | CASR | c.2989A>C (p.Asn997His) c.3250A>C (p.Asn1084His) c.3220A>C (p.Asn1074His) c.2737A>C (p.Asn913His) c.2632A>C (p.Asn878His) | |
| 3 | g.122285174A>G | CA2569947 | CASR | c.2989A>G (p.Asn997Asp) c.3250A>G (p.Asn1084Asp) c.3220A>G (p.Asn1074Asp) c.2737A>G (p.Asn913Asp) c.2632A>G (p.Asn878Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285174A>T | CA354161809 | CASR | c.2989A>T (p.Asn997Tyr) c.3250A>T (p.Asn1084Tyr) c.3220A>T (p.Asn1074Tyr) c.2737A>T (p.Asn913Tyr) c.2632A>T (p.Asn878Tyr) | |
| 3 | g.122285175A>C | CA354161812 | CASR | c.2990A>C (p.Asn997Thr) c.3251A>C (p.Asn1084Thr) c.3221A>C (p.Asn1074Thr) c.2738A>C (p.Asn913Thr) c.2633A>C (p.Asn878Thr) | |
| 3 | g.122285175A>G | CA354161811 | CASR | c.2990A>G (p.Asn997Ser) c.3251A>G (p.Asn1084Ser) c.3221A>G (p.Asn1074Ser) c.2738A>G (p.Asn913Ser) c.2633A>G (p.Asn878Ser) | |
| 3 | g.122285175A>T | CA354161810 | CASR | c.2990A>T (p.Asn997Ile) c.3251A>T (p.Asn1084Ile) c.3221A>T (p.Asn1074Ile) c.2738A>T (p.Asn913Ile) c.2633A>T (p.Asn878Ile) | |
| 3 | g.122285176C>A | CA354161813 | CASR | c.2991C>A (p.Asn997Lys) c.3252C>A (p.Asn1084Lys) c.3222C>A (p.Asn1074Lys) c.2739C>A (p.Asn913Lys) c.2634C>A (p.Asn878Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122285176C= | CA1397873330 | CASR | c.2991C= (p.Asn997=) c.3252C= (p.Asn1084=) c.3222C= (p.Asn1074=) c.2739C= (p.Asn913=) c.2634C= (p.Asn878=) | |
| 3 | g.122285176C>G | CA354161814 | CASR | c.2991C>G (p.Asn997Lys) c.3252C>G (p.Asn1084Lys) c.3222C>G (p.Asn1074Lys) c.2739C>G (p.Asn913Lys) c.2634C>G (p.Asn878Lys) | |
| 3 | g.122285176C>T | CA435425702 | CASR | c.2991C>T (p.Asn997=) c.3252C>T (p.Asn1084=) c.3222C>T (p.Asn1074=) c.2739C>T (p.Asn913=) c.2634C>T (p.Asn878=) | ClinVar COSMIC |
| 3 | g.122285177G>A | CA354161815 | CASR | c.2992G>A (p.Val998Ile) c.3253G>A (p.Val1085Ile) c.3223G>A (p.Val1075Ile) c.2740G>A (p.Val914Ile) c.2635G>A (p.Val879Ile) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122285177G>C | CA2569948 | CASR | c.2992G>C (p.Val998Leu) c.3253G>C (p.Val1085Leu) c.3223G>C (p.Val1075Leu) c.2740G>C (p.Val914Leu) c.2635G>C (p.Val879Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122285177G= | CA1397873334 | CASR | c.2992G= (p.Val998=) c.3253G= (p.Val1085=) c.3223G= (p.Val1075=) c.2740G= (p.Val914=) c.2635G= (p.Val879=) | |
| 3 | g.122285177G>T | CA354161816 | CASR | c.2992G>T (p.Val998Leu) c.3253G>T (p.Val1085Leu) c.3223G>T (p.Val1075Leu) c.2740G>T (p.Val914Leu) c.2635G>T (p.Val879Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122285178T>A | CA354161817 | CASR | c.2993T>A (p.Val998Glu) c.3254T>A (p.Val1085Glu) c.3224T>A (p.Val1075Glu) c.2741T>A (p.Val914Glu) c.2636T>A (p.Val879Glu) | |
| 3 | g.122285178T>C | CA354161818 | CASR | c.2993T>C (p.Val998Ala) c.3254T>C (p.Val1085Ala) c.3224T>C (p.Val1075Ala) c.2741T>C (p.Val914Ala) c.2636T>C (p.Val879Ala) | ClinVar dbSNP |
| 3 | g.122285178T>G | CA354161819 | CASR | c.2993T>G (p.Val998Gly) c.3254T>G (p.Val1085Gly) c.3224T>G (p.Val1075Gly) c.2741T>G (p.Val914Gly) c.2636T>G (p.Val879Gly) | |
| 3 | g.122285179A>C | CA435425704 | CASR | c.2994A>C (p.Val998=) c.3255A>C (p.Val1085=) c.3225A>C (p.Val1075=) c.2742A>C (p.Val914=) c.2637A>C (p.Val879=) | |
| 3 | g.122285179A>G | CA435425705 | CASR | c.2994A>G (p.Val998=) c.3255A>G (p.Val1085=) c.3225A>G (p.Val1075=) c.2742A>G (p.Val914=) c.2637A>G (p.Val879=) | gnomAD v4 |
| 3 | g.122285179A>T | CA435425706 | CASR | c.2994A>T (p.Val998=) c.3255A>T (p.Val1085=) c.3225A>T (p.Val1075=) c.2742A>T (p.Val914=) c.2637A>T (p.Val879=) | |
| 3 | g.122285180del | CA2603853880 | CASR | c.2995del (p.Val999Ter) c.3256del (p.Val1086Ter) c.3226del (p.Val1076Ter) c.2743del (p.Val915Ter) c.2638del (p.Val880Ter) | gnomAD v3 gnomAD v4 |
| 3 | g.122285180G>A | CA354161820 | CASR | c.2995G>A (p.Val999Met) c.3256G>A (p.Val1086Met) c.3226G>A (p.Val1076Met) c.2743G>A (p.Val915Met) c.2638G>A (p.Val880Met) | |
| 3 | g.122285180G>C | CA354161821 | CASR | c.2995G>C (p.Val999Leu) c.3256G>C (p.Val1086Leu) c.3226G>C (p.Val1076Leu) c.2743G>C (p.Val915Leu) c.2638G>C (p.Val880Leu) | |
| 3 | g.122285180G>T | CA354161822 | CASR | c.2995G>T (p.Val999Leu) c.3256G>T (p.Val1086Leu) c.3226G>T (p.Val1076Leu) c.2743G>T (p.Val915Leu) c.2638G>T (p.Val880Leu) | dbSNP |
| 3 | g.122285181T>A | CA354161823 | CASR | c.2996T>A (p.Val999Glu) c.3257T>A (p.Val1086Glu) c.3227T>A (p.Val1076Glu) c.2744T>A (p.Val915Glu) c.2639T>A (p.Val880Glu) | |
| 3 | g.122285181T>C | CA354161824 | CASR | c.2996T>C (p.Val999Ala) c.3257T>C (p.Val1086Ala) c.3227T>C (p.Val1076Ala) c.2744T>C (p.Val915Ala) c.2639T>C (p.Val880Ala) | |
| 3 | g.122285181T>G | CA354161825 | CASR | c.2996T>G (p.Val999Gly) c.3257T>G (p.Val1086Gly) c.3227T>G (p.Val1076Gly) c.2744T>G (p.Val915Gly) c.2639T>G (p.Val880Gly) | |
| 3 | g.122285182G>A | CA435425709 | CASR | c.2997G>A (p.Val999=) c.3258G>A (p.Val1086=) c.3228G>A (p.Val1076=) c.2745G>A (p.Val915=) c.2640G>A (p.Val880=) | COSMIC |
| 3 | g.122285182G>C | CA435425710 | CASR | c.2997G>C (p.Val999=) c.3258G>C (p.Val1086=) c.3228G>C (p.Val1076=) c.2745G>C (p.Val915=) c.2640G>C (p.Val880=) | |
| 3 | g.122285182G>T | CA435425708 | CASR | c.2997G>T (p.Val999=) c.3258G>T (p.Val1086=) c.3228G>T (p.Val1076=) c.2745G>T (p.Val915=) c.2640G>T (p.Val880=) | |
| 3 | g.122285183A>C | CA354161827 | CASR | c.2998A>C (p.Asn1000His) c.3259A>C (p.Asn1087His) c.3229A>C (p.Asn1077His) c.2746A>C (p.Asn916His) c.2641A>C (p.Asn881His) | |
| 3 | g.122285183A>G | CA354161828 | CASR | c.2998A>G (p.Asn1000Asp) c.3259A>G (p.Asn1087Asp) c.3229A>G (p.Asn1077Asp) c.2746A>G (p.Asn916Asp) c.2641A>G (p.Asn881Asp) | COSMIC |
| 3 | g.122285183A>T | CA354161826 | CASR | c.2998A>T (p.Asn1000Tyr) c.3259A>T (p.Asn1087Tyr) c.3229A>T (p.Asn1077Tyr) c.2746A>T (p.Asn916Tyr) c.2641A>T (p.Asn881Tyr) | |
| 3 | g.122285184A>C | CA354161829 | CASR | c.2999A>C (p.Asn1000Thr) c.3260A>C (p.Asn1087Thr) c.3230A>C (p.Asn1077Thr) c.2747A>C (p.Asn916Thr) c.2642A>C (p.Asn881Thr) | |
| 3 | g.122285184A>G | CA354161830 | CASR | c.2999A>G (p.Asn1000Ser) c.3260A>G (p.Asn1087Ser) c.3230A>G (p.Asn1077Ser) c.2747A>G (p.Asn916Ser) c.2642A>G (p.Asn881Ser) | |
| 3 | g.122285184A>T | CA354161831 | CASR | c.2999A>T (p.Asn1000Ile) c.3260A>T (p.Asn1087Ile) c.3230A>T (p.Asn1077Ile) c.2747A>T (p.Asn916Ile) c.2642A>T (p.Asn881Ile) | |
| 3 | g.122285185T>A | CA354161832 | CASR | c.3000T>A (p.Asn1000Lys) c.3261T>A (p.Asn1087Lys) c.3231T>A (p.Asn1077Lys) c.2748T>A (p.Asn916Lys) c.2643T>A (p.Asn881Lys) | |
| 3 | g.122285185T>C | CA435425712 | CASR | c.3000T>C (p.Asn1000=) c.3261T>C (p.Asn1087=) c.3231T>C (p.Asn1077=) c.2748T>C (p.Asn916=) c.2643T>C (p.Asn881=) | |
| 3 | g.122285185T>G | CA354161833 | CASR | c.3000T>G (p.Asn1000Lys) c.3261T>G (p.Asn1087Lys) c.3231T>G (p.Asn1077Lys) c.2748T>G (p.Asn916Lys) c.2643T>G (p.Asn881Lys) | |
| 3 | g.122285186T>A | CA354161834 | CASR | c.3001T>A (p.Ser1001Thr) c.3262T>A (p.Ser1088Thr) c.3232T>A (p.Ser1078Thr) c.2749T>A (p.Ser917Thr) c.2644T>A (p.Ser882Thr) | |
| 3 | g.122285186T>C | CA354161835 | CASR | c.3001T>C (p.Ser1001Pro) c.3262T>C (p.Ser1088Pro) c.3232T>C (p.Ser1078Pro) c.2749T>C (p.Ser917Pro) c.2644T>C (p.Ser882Pro) | |
| 3 | g.122285186T>G | CA354161836 | CASR | c.3001T>G (p.Ser1001Ala) c.3262T>G (p.Ser1088Ala) c.3232T>G (p.Ser1078Ala) c.2749T>G (p.Ser917Ala) c.2644T>G (p.Ser882Ala) | |
| 3 | g.122285187C>A | CA354161837 | CASR | c.3002C>A (p.Ser1001Ter) c.3263C>A (p.Ser1088Ter) c.3233C>A (p.Ser1078Ter) c.2750C>A (p.Ser917Ter) c.2645C>A (p.Ser882Ter) | |
| 3 | g.122285187C>G | CA354161838 | CASR | c.3002C>G (p.Ser1001Ter) c.3263C>G (p.Ser1088Ter) c.3233C>G (p.Ser1078Ter) c.2750C>G (p.Ser917Ter) c.2645C>G (p.Ser882Ter) | |
| 3 | g.122285187C>T | CA354161839 | CASR | c.3002C>T (p.Ser1001Leu) c.3263C>T (p.Ser1088Leu) c.3233C>T (p.Ser1078Leu) c.2750C>T (p.Ser917Leu) c.2645C>T (p.Ser882Leu) | |
| 3 | g.122285188A= | CA1397873336 | CASR | c.3003A= (p.Ser1001=) c.3264A= (p.Ser1088=) c.3234A= (p.Ser1078=) c.2751A= (p.Ser917=) c.2646A= (p.Ser882=) | |
| 3 | g.122285188A>C | CA435425790 | CASR | c.3003A>C (p.Ser1001=) c.3264A>C (p.Ser1088=) c.3234A>C (p.Ser1078=) c.2751A>C (p.Ser917=) c.2646A>C (p.Ser882=) | |
| 3 | g.122285188A>G | CA2569949 | CASR | c.3003A>G (p.Ser1001=) c.3264A>G (p.Ser1088=) c.3234A>G (p.Ser1078=) c.2751A>G (p.Ser917=) c.2646A>G (p.Ser882=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285188A>T | CA2569950 | CASR | c.3003A>T (p.Ser1001=) c.3264A>T (p.Ser1088=) c.3234A>T (p.Ser1078=) c.2751A>T (p.Ser917=) c.2646A>T (p.Ser882=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285189T>A | CA354161842 | CASR | c.3004T>A (p.Ter1002Lys) c.3265T>A (p.Ter1089Lys) c.3235T>A (p.Ter1079Lys) c.2752T>A (p.Ter918Lys) c.2647T>A (p.Ter883Lys) | |
| 3 | g.122285189T>C | CA354161840 | CASR | c.3004T>C (p.Ter1002Gln) c.3265T>C (p.Ter1089Gln) c.3235T>C (p.Ter1079Gln) c.2752T>C (p.Ter918Gln) c.2647T>C (p.Ter883Gln) | gnomAD v4 |
| 3 | g.122285189T>G | CA354161841 | CASR | c.3004T>G (p.Ter1002Glu) c.3265T>G (p.Ter1089Glu) c.3235T>G (p.Ter1079Glu) c.2752T>G (p.Ter918Glu) c.2647T>G (p.Ter883Glu) | |
| 3 | g.122285190A= | CA1397873339 | CASR | c.3005A= (p.Ter1002=) c.3266A= (p.Ter1089=) c.3236A= (p.Ter1079=) c.2753A= (p.Ter918=) c.2648A= (p.Ter883=) | |
| 3 | g.122285190A>C | CA354161843 | CASR | c.3005A>C (p.Ter1002Ser) c.3266A>C (p.Ter1089Ser) c.3236A>C (p.Ter1079Ser) c.2753A>C (p.Ter918Ser) c.2648A>C (p.Ter883Ser) | |
| 3 | g.122285190A>G | CA16611139 | CASR | c.3005A>G (p.Ter1002=) c.3266A>G (p.Ter1089=) c.3236A>G (p.Ter1079=) c.2753A>G (p.Ter918=) c.2648A>G (p.Ter883=) | ClinVar dbSNP |
| 3 | g.122285190A>T | CA354161844 | CASR | c.3005A>T (p.Ter1002Leu) c.3266A>T (p.Ter1089Leu) c.3236A>T (p.Ter1079Leu) c.2753A>T (p.Ter918Leu) c.2648A>T (p.Ter883Leu) | |
| 3 | g.122285191A>C | CA354161845 | CASR | c.3006A>C (p.Ter1002Tyr) c.3267A>C (p.Ter1089Tyr) c.3237A>C (p.Ter1079Tyr) c.2754A>C (p.Ter918Tyr) c.2649A>C (p.Ter883Tyr) | |
| 3 | g.122285191A>G | CA435425792 | CASR | c.3006A>G (p.Ter1002=) c.3267A>G (p.Ter1089=) c.3237A>G (p.Ter1079=) c.2754A>G (p.Ter918=) c.2649A>G (p.Ter883=) | |
| 3 | g.122285191A>T | CA354161846 | CASR | c.3006A>T (p.Ter1002Tyr) c.3267A>T (p.Ter1089Tyr) c.3237A>T (p.Ter1079Tyr) c.2754A>T (p.Ter918Tyr) c.2649A>T (p.Ter883Tyr) | |
| 3 | g.122285193A>G | CA2667224942 | CASR | c.*2A>G (n.*2A>G) | gnomAD v4 |
| 3 | g.122285195G>A | CA545962769 | CASR | c.*4G>A (n.*4G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122285195G= | CA1397873341 | CASR | c.*4G= (n.*4G=) | |
| 3 | g.122285197A= | CA1397873343 | CASR | c.*6A= (n.*6A=) | |
| 3 | g.122285197A>C | CA1397873344 | CASR | c.*6A>C (n.*6A>C) | dbSNP |
| 3 | g.122285197_122285200delinsAAGG | CA1397873342 | CASR | c.*6_*9delinsAAGG (n.*6_*9delinsAAGG) | |
| 3 | g.122285198A= | CA1397873345 | CASR | c.*7A= (n.*7A=) | |
| 3 | g.122285198A>C | CA2569952 | CASR | c.*7A>C (n.*7A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122285198A>T | CA2667224943 | CASR | c.*7A>T (n.*7A>T) | gnomAD v4 |
| 3 | g.122285200_122285202del | CA2569951 | CASR | c.*9_*11del (n.*9_*11del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285200G>C | CA2569953 | CASR | c.*9G>C (n.*9G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285200G= | CA1397873347 | CASR | c.*9G= (n.*9G=) | |
| 3 | g.122285200G>T | CA82749681 | CASR | c.*9G>T (n.*9G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122285201A= | CA1397873349 | CASR | c.*10A= (n.*10A=) | |
| 3 | g.122285201A>C | CA82749687 | CASR | c.*10A>C (n.*10A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285202G>A | CA545962770 | CASR | c.*11G>A (n.*11G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285202G= | CA1397873350 | CASR | c.*11G= (n.*11G=) | |
| 3 | g.122285205G>A | CA1052938200 | CASR | c.*14G>A (n.*14G>A) | gnomAD v3 gnomAD v4 |
| 3 | g.122285205G>C | CA2667224944 | CASR | c.*14G>C (n.*14G>C) | gnomAD v4 |
| 3 | g.122285206A= | CA1397873352 | CASR | c.*15A= (n.*15A=) | |
| 3 | g.122285206A>G | CA545962771 | CASR | c.*15A>G (n.*15A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285206A>T | CA2667224945 | CASR | c.*15A>T (n.*15A>T) | gnomAD v4 |
| 3 | g.122285208T>C | CA82749690 | CASR | c.*17T>C (n.*17T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122285208T>G | CA1397873353 | CASR | c.*17T>G (n.*17T>G) | dbSNP |
| 3 | g.122285208T= | CA1397873354 | CASR | c.*17T= (n.*17T=) | |
| 3 | g.122285210G>A | CA2569954 | CASR | c.*19G>A (n.*19G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285210G>C | CA2667224946 | CASR | c.*19G>C (n.*19G>C) | gnomAD v4 |
| 3 | g.122285210G= | CA1397873355 | CASR | c.*19G= (n.*19G=) | |
| 3 | g.122285211G>A | CA2569955 | CASR | c.*20G>A (n.*20G>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 3 | g.122285211G>C | CA1397873358 | CASR | c.*20G>C (n.*20G>C) | dbSNP |
| 3 | g.122285211G= | CA1397873357 | CASR | c.*20G= (n.*20G=) | |
| 3 | g.122285212C>A | CA2667224947 | CASR | c.*21C>A (n.*21C>A) | gnomAD v4 |