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 |
|---|---|---|---|---|---|
| 6 | g.56555753C>A | CA364519802 | DST | c.7837G>T (p.Asp2613Tyr) c.8371G>T (p.Asp2791Tyr) c.7957G>T (p.Asp2653Tyr) n.699G>T c.14728G>T (p.Asp4910Tyr) c.6859G>T (p.Asp2287Tyr) c.14095G>T (p.Asp4699Tyr) n.437G>T c.14629G>T (p.Asp4877Tyr) c.14443G>T (p.Asp4815Tyr) c.14314G>T (p.Asp4772Tyr) c.14215G>T (p.Asp4739Tyr) c.14194G>T (p.Asp4732Tyr) c.14173G>T (p.Asp4725Tyr) c.13117G>T (p.Asp4373Tyr) c.14656G>T (p.Asp4886Tyr) c.8398G>T (p.Asp2800Tyr) c.14755G>T (p.Asp4919Tyr) c.14692G>T (p.Asp4898Tyr) c.14521G>T (p.Asp4841Tyr) c.14131G>T (p.Asp4711Tyr) c.9322G>T (p.Asp3108Tyr) c.8497G>T (p.Asp2833Tyr) c.8263G>T (p.Asp2755Tyr) c.8185G>T (p.Asp2729Tyr) c.14074G>T (p.Asp4692Tyr) | |
| 6 | g.56555753C>G | CA364519803 | DST | c.7837G>C (p.Asp2613His) c.8371G>C (p.Asp2791His) c.7957G>C (p.Asp2653His) n.699G>C c.14728G>C (p.Asp4910His) c.6859G>C (p.Asp2287His) c.14095G>C (p.Asp4699His) n.437G>C c.14629G>C (p.Asp4877His) c.14443G>C (p.Asp4815His) c.14314G>C (p.Asp4772His) c.14215G>C (p.Asp4739His) c.14194G>C (p.Asp4732His) c.14173G>C (p.Asp4725His) c.13117G>C (p.Asp4373His) c.14656G>C (p.Asp4886His) c.8398G>C (p.Asp2800His) c.14755G>C (p.Asp4919His) c.14692G>C (p.Asp4898His) c.14521G>C (p.Asp4841His) c.14131G>C (p.Asp4711His) c.9322G>C (p.Asp3108His) c.8497G>C (p.Asp2833His) c.8263G>C (p.Asp2755His) c.8185G>C (p.Asp2729His) c.14074G>C (p.Asp4692His) | |
| 6 | g.56555753C>T | CA364519804 | DST | c.7837G>A (p.Asp2613Asn) c.8371G>A (p.Asp2791Asn) c.7957G>A (p.Asp2653Asn) n.699G>A c.14728G>A (p.Asp4910Asn) c.6859G>A (p.Asp2287Asn) c.14095G>A (p.Asp4699Asn) n.437G>A c.14629G>A (p.Asp4877Asn) c.14443G>A (p.Asp4815Asn) c.14314G>A (p.Asp4772Asn) c.14215G>A (p.Asp4739Asn) c.14194G>A (p.Asp4732Asn) c.14173G>A (p.Asp4725Asn) c.13117G>A (p.Asp4373Asn) c.14656G>A (p.Asp4886Asn) c.8398G>A (p.Asp2800Asn) c.14755G>A (p.Asp4919Asn) c.14692G>A (p.Asp4898Asn) c.14521G>A (p.Asp4841Asn) c.14131G>A (p.Asp4711Asn) c.9322G>A (p.Asp3108Asn) c.8497G>A (p.Asp2833Asn) c.8263G>A (p.Asp2755Asn) c.8185G>A (p.Asp2729Asn) c.14074G>A (p.Asp4692Asn) | |
| 6 | g.56555754T>A | CA364519805 | DST | c.7836A>T (p.Glu2612Asp) c.8370A>T (p.Glu2790Asp) c.7956A>T (p.Glu2652Asp) n.698A>T c.14727A>T (p.Glu4909Asp) c.6858A>T (p.Glu2286Asp) c.14094A>T (p.Glu4698Asp) n.436A>T c.14628A>T (p.Glu4876Asp) c.14442A>T (p.Glu4814Asp) c.14313A>T (p.Glu4771Asp) c.14214A>T (p.Glu4738Asp) c.14193A>T (p.Glu4731Asp) c.14172A>T (p.Glu4724Asp) c.13116A>T (p.Glu4372Asp) c.14655A>T (p.Glu4885Asp) c.8397A>T (p.Glu2799Asp) c.14754A>T (p.Glu4918Asp) c.14691A>T (p.Glu4897Asp) c.14520A>T (p.Glu4840Asp) c.14130A>T (p.Glu4710Asp) c.9321A>T (p.Glu3107Asp) c.8496A>T (p.Glu2832Asp) c.8262A>T (p.Glu2754Asp) c.8184A>T (p.Glu2728Asp) c.14073A>T (p.Glu4691Asp) | |
| 6 | g.56555754T>C | CA450620054 | DST | c.7836A>G (p.Glu2612=) c.8370A>G (p.Glu2790=) c.7956A>G (p.Glu2652=) n.698A>G c.14727A>G (p.Glu4909=) c.6858A>G (p.Glu2286=) c.14094A>G (p.Glu4698=) n.436A>G c.14628A>G (p.Glu4876=) c.14442A>G (p.Glu4814=) c.14313A>G (p.Glu4771=) c.14214A>G (p.Glu4738=) c.14193A>G (p.Glu4731=) c.14172A>G (p.Glu4724=) c.13116A>G (p.Glu4372=) c.14655A>G (p.Glu4885=) c.8397A>G (p.Glu2799=) c.14754A>G (p.Glu4918=) c.14691A>G (p.Glu4897=) c.14520A>G (p.Glu4840=) c.14130A>G (p.Glu4710=) c.9321A>G (p.Glu3107=) c.8496A>G (p.Glu2832=) c.8262A>G (p.Glu2754=) c.8184A>G (p.Glu2728=) c.14073A>G (p.Glu4691=) | gnomAD v4 |
| 6 | g.56555754T>G | CA364519806 | DST | c.7836A>C (p.Glu2612Asp) c.8370A>C (p.Glu2790Asp) c.7956A>C (p.Glu2652Asp) n.698A>C c.14727A>C (p.Glu4909Asp) c.6858A>C (p.Glu2286Asp) c.14094A>C (p.Glu4698Asp) n.436A>C c.14628A>C (p.Glu4876Asp) c.14442A>C (p.Glu4814Asp) c.14313A>C (p.Glu4771Asp) c.14214A>C (p.Glu4738Asp) c.14193A>C (p.Glu4731Asp) c.14172A>C (p.Glu4724Asp) c.13116A>C (p.Glu4372Asp) c.14655A>C (p.Glu4885Asp) c.8397A>C (p.Glu2799Asp) c.14754A>C (p.Glu4918Asp) c.14691A>C (p.Glu4897Asp) c.14520A>C (p.Glu4840Asp) c.14130A>C (p.Glu4710Asp) c.9321A>C (p.Glu3107Asp) c.8496A>C (p.Glu2832Asp) c.8262A>C (p.Glu2754Asp) c.8184A>C (p.Glu2728Asp) c.14073A>C (p.Glu4691Asp) | |
| 6 | g.56555755T>A | CA364519807 | DST | c.7835A>T (p.Glu2612Val) c.8369A>T (p.Glu2790Val) c.7955A>T (p.Glu2652Val) n.697A>T c.14726A>T (p.Glu4909Val) c.6857A>T (p.Glu2286Val) c.14093A>T (p.Glu4698Val) n.435A>T c.14627A>T (p.Glu4876Val) c.14441A>T (p.Glu4814Val) c.14312A>T (p.Glu4771Val) c.14213A>T (p.Glu4738Val) c.14192A>T (p.Glu4731Val) c.14171A>T (p.Glu4724Val) c.13115A>T (p.Glu4372Val) c.14654A>T (p.Glu4885Val) c.8396A>T (p.Glu2799Val) c.14753A>T (p.Glu4918Val) c.14690A>T (p.Glu4897Val) c.14519A>T (p.Glu4840Val) c.14129A>T (p.Glu4710Val) c.9320A>T (p.Glu3107Val) c.8495A>T (p.Glu2832Val) c.8261A>T (p.Glu2754Val) c.8183A>T (p.Glu2728Val) c.14072A>T (p.Glu4691Val) | |
| 6 | g.56555755T>C | CA139207571 | DST | c.7835A>G (p.Glu2612Gly) c.8369A>G (p.Glu2790Gly) c.7955A>G (p.Glu2652Gly) n.697A>G c.14726A>G (p.Glu4909Gly) c.6857A>G (p.Glu2286Gly) c.14093A>G (p.Glu4698Gly) n.435A>G c.14627A>G (p.Glu4876Gly) c.14441A>G (p.Glu4814Gly) c.14312A>G (p.Glu4771Gly) c.14213A>G (p.Glu4738Gly) c.14192A>G (p.Glu4731Gly) c.14171A>G (p.Glu4724Gly) c.13115A>G (p.Glu4372Gly) c.14654A>G (p.Glu4885Gly) c.8396A>G (p.Glu2799Gly) c.14753A>G (p.Glu4918Gly) c.14690A>G (p.Glu4897Gly) c.14519A>G (p.Glu4840Gly) c.14129A>G (p.Glu4710Gly) c.9320A>G (p.Glu3107Gly) c.8495A>G (p.Glu2832Gly) c.8261A>G (p.Glu2754Gly) c.8183A>G (p.Glu2728Gly) c.14072A>G (p.Glu4691Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.56555755T>G | CA364519808 | DST | c.7835A>C (p.Glu2612Ala) c.8369A>C (p.Glu2790Ala) c.7955A>C (p.Glu2652Ala) n.697A>C c.14726A>C (p.Glu4909Ala) c.6857A>C (p.Glu2286Ala) c.14093A>C (p.Glu4698Ala) n.435A>C c.14627A>C (p.Glu4876Ala) c.14441A>C (p.Glu4814Ala) c.14312A>C (p.Glu4771Ala) c.14213A>C (p.Glu4738Ala) c.14192A>C (p.Glu4731Ala) c.14171A>C (p.Glu4724Ala) c.13115A>C (p.Glu4372Ala) c.14654A>C (p.Glu4885Ala) c.8396A>C (p.Glu2799Ala) c.14753A>C (p.Glu4918Ala) c.14690A>C (p.Glu4897Ala) c.14519A>C (p.Glu4840Ala) c.14129A>C (p.Glu4710Ala) c.9320A>C (p.Glu3107Ala) c.8495A>C (p.Glu2832Ala) c.8261A>C (p.Glu2754Ala) c.8183A>C (p.Glu2728Ala) c.14072A>C (p.Glu4691Ala) | |
| 6 | g.56555755T= | CA1630147880 | DST | c.7835A= (p.Glu2612=) c.8369A= (p.Glu2790=) c.7955A= (p.Glu2652=) n.697A= c.14726A= (p.Glu4909=) c.6857A= (p.Glu2286=) c.14093A= (p.Glu4698=) n.435A= c.14627A= (p.Glu4876=) c.14441A= (p.Glu4814=) c.14312A= (p.Glu4771=) c.14213A= (p.Glu4738=) c.14192A= (p.Glu4731=) c.14171A= (p.Glu4724=) c.13115A= (p.Glu4372=) c.14654A= (p.Glu4885=) c.8396A= (p.Glu2799=) c.14753A= (p.Glu4918=) c.14690A= (p.Glu4897=) c.14519A= (p.Glu4840=) c.14129A= (p.Glu4710=) c.9320A= (p.Glu3107=) c.8495A= (p.Glu2832=) c.8261A= (p.Glu2754=) c.8183A= (p.Glu2728=) c.14072A= (p.Glu4691=) | |
| 6 | g.56555756C>A | CA364519809 | DST | c.7834G>T (p.Glu2612Ter) c.8368G>T (p.Glu2790Ter) c.7954G>T (p.Glu2652Ter) n.696G>T c.14725G>T (p.Glu4909Ter) c.6856G>T (p.Glu2286Ter) c.14092G>T (p.Glu4698Ter) n.434G>T c.14626G>T (p.Glu4876Ter) c.14440G>T (p.Glu4814Ter) c.14311G>T (p.Glu4771Ter) c.14212G>T (p.Glu4738Ter) c.14191G>T (p.Glu4731Ter) c.14170G>T (p.Glu4724Ter) c.13114G>T (p.Glu4372Ter) c.14653G>T (p.Glu4885Ter) c.8395G>T (p.Glu2799Ter) c.14752G>T (p.Glu4918Ter) c.14689G>T (p.Glu4897Ter) c.14518G>T (p.Glu4840Ter) c.14128G>T (p.Glu4710Ter) c.9319G>T (p.Glu3107Ter) c.8494G>T (p.Glu2832Ter) c.8260G>T (p.Glu2754Ter) c.8182G>T (p.Glu2728Ter) c.14071G>T (p.Glu4691Ter) | gnomAD v4 |
| 6 | g.56555756C= | CA1630147881 | DST | c.7834G= (p.Glu2612=) c.8368G= (p.Glu2790=) c.7954G= (p.Glu2652=) n.696G= c.14725G= (p.Glu4909=) c.6856G= (p.Glu2286=) c.14092G= (p.Glu4698=) n.434G= c.14626G= (p.Glu4876=) c.14440G= (p.Glu4814=) c.14311G= (p.Glu4771=) c.14212G= (p.Glu4738=) c.14191G= (p.Glu4731=) c.14170G= (p.Glu4724=) c.13114G= (p.Glu4372=) c.14653G= (p.Glu4885=) c.8395G= (p.Glu2799=) c.14752G= (p.Glu4918=) c.14689G= (p.Glu4897=) c.14518G= (p.Glu4840=) c.14128G= (p.Glu4710=) c.9319G= (p.Glu3107=) c.8494G= (p.Glu2832=) c.8260G= (p.Glu2754=) c.8182G= (p.Glu2728=) c.14071G= (p.Glu4691=) | |
| 6 | g.56555756C>G | CA364519810 | DST | c.7834G>C (p.Glu2612Gln) c.8368G>C (p.Glu2790Gln) c.7954G>C (p.Glu2652Gln) n.696G>C c.14725G>C (p.Glu4909Gln) c.6856G>C (p.Glu2286Gln) c.14092G>C (p.Glu4698Gln) n.434G>C c.14626G>C (p.Glu4876Gln) c.14440G>C (p.Glu4814Gln) c.14311G>C (p.Glu4771Gln) c.14212G>C (p.Glu4738Gln) c.14191G>C (p.Glu4731Gln) c.14170G>C (p.Glu4724Gln) c.13114G>C (p.Glu4372Gln) c.14653G>C (p.Glu4885Gln) c.8395G>C (p.Glu2799Gln) c.14752G>C (p.Glu4918Gln) c.14689G>C (p.Glu4897Gln) c.14518G>C (p.Glu4840Gln) c.14128G>C (p.Glu4710Gln) c.9319G>C (p.Glu3107Gln) c.8494G>C (p.Glu2832Gln) c.8260G>C (p.Glu2754Gln) c.8182G>C (p.Glu2728Gln) c.14071G>C (p.Glu4691Gln) | |
| 6 | g.56555756C>T | CA3867938 | DST | c.7834G>A (p.Glu2612Lys) c.8368G>A (p.Glu2790Lys) c.7954G>A (p.Glu2652Lys) n.696G>A c.14725G>A (p.Glu4909Lys) c.6856G>A (p.Glu2286Lys) c.14092G>A (p.Glu4698Lys) n.434G>A c.14626G>A (p.Glu4876Lys) c.14440G>A (p.Glu4814Lys) c.14311G>A (p.Glu4771Lys) c.14212G>A (p.Glu4738Lys) c.14191G>A (p.Glu4731Lys) c.14170G>A (p.Glu4724Lys) c.13114G>A (p.Glu4372Lys) c.14653G>A (p.Glu4885Lys) c.8395G>A (p.Glu2799Lys) c.14752G>A (p.Glu4918Lys) c.14689G>A (p.Glu4897Lys) c.14518G>A (p.Glu4840Lys) c.14128G>A (p.Glu4710Lys) c.9319G>A (p.Glu3107Lys) c.8494G>A (p.Glu2832Lys) c.8260G>A (p.Glu2754Lys) c.8182G>A (p.Glu2728Lys) c.14071G>A (p.Glu4691Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.56555757T>A | CA450620057 | DST | c.7833A>T (p.Gly2611=) c.8367A>T (p.Gly2789=) c.7953A>T (p.Gly2651=) n.695A>T c.14724A>T (p.Gly4908=) c.6855A>T (p.Gly2285=) c.14091A>T (p.Gly4697=) n.433A>T c.14625A>T (p.Gly4875=) c.14439A>T (p.Gly4813=) c.14310A>T (p.Gly4770=) c.14211A>T (p.Gly4737=) c.14190A>T (p.Gly4730=) c.14169A>T (p.Gly4723=) c.13113A>T (p.Gly4371=) c.14652A>T (p.Gly4884=) c.8394A>T (p.Gly2798=) c.14751A>T (p.Gly4917=) c.14688A>T (p.Gly4896=) c.14517A>T (p.Gly4839=) c.14127A>T (p.Gly4709=) c.9318A>T (p.Gly3106=) c.8493A>T (p.Gly2831=) c.8259A>T (p.Gly2753=) c.8181A>T (p.Gly2727=) c.14070A>T (p.Gly4690=) | |
| 6 | g.56555757T>C | CA450620059 | DST | c.7833A>G (p.Gly2611=) c.8367A>G (p.Gly2789=) c.7953A>G (p.Gly2651=) n.695A>G c.14724A>G (p.Gly4908=) c.6855A>G (p.Gly2285=) c.14091A>G (p.Gly4697=) n.433A>G c.14625A>G (p.Gly4875=) c.14439A>G (p.Gly4813=) c.14310A>G (p.Gly4770=) c.14211A>G (p.Gly4737=) c.14190A>G (p.Gly4730=) c.14169A>G (p.Gly4723=) c.13113A>G (p.Gly4371=) c.14652A>G (p.Gly4884=) c.8394A>G (p.Gly2798=) c.14751A>G (p.Gly4917=) c.14688A>G (p.Gly4896=) c.14517A>G (p.Gly4839=) c.14127A>G (p.Gly4709=) c.9318A>G (p.Gly3106=) c.8493A>G (p.Gly2831=) c.8259A>G (p.Gly2753=) c.8181A>G (p.Gly2727=) c.14070A>G (p.Gly4690=) | |
| 6 | g.56555757T>G | CA450620061 | DST | c.7833A>C (p.Gly2611=) c.8367A>C (p.Gly2789=) c.7953A>C (p.Gly2651=) n.695A>C c.14724A>C (p.Gly4908=) c.6855A>C (p.Gly2285=) c.14091A>C (p.Gly4697=) n.433A>C c.14625A>C (p.Gly4875=) c.14439A>C (p.Gly4813=) c.14310A>C (p.Gly4770=) c.14211A>C (p.Gly4737=) c.14190A>C (p.Gly4730=) c.14169A>C (p.Gly4723=) c.13113A>C (p.Gly4371=) c.14652A>C (p.Gly4884=) c.8394A>C (p.Gly2798=) c.14751A>C (p.Gly4917=) c.14688A>C (p.Gly4896=) c.14517A>C (p.Gly4839=) c.14127A>C (p.Gly4709=) c.9318A>C (p.Gly3106=) c.8493A>C (p.Gly2831=) c.8259A>C (p.Gly2753=) c.8181A>C (p.Gly2727=) c.14070A>C (p.Gly4690=) | |
| 6 | g.56555758C>A | CA364519813 | DST | c.7832G>T (p.Gly2611Val) c.8366G>T (p.Gly2789Val) c.7952G>T (p.Gly2651Val) n.694G>T c.14723G>T (p.Gly4908Val) c.6854G>T (p.Gly2285Val) c.14090G>T (p.Gly4697Val) n.432G>T c.14624G>T (p.Gly4875Val) c.14438G>T (p.Gly4813Val) c.14309G>T (p.Gly4770Val) c.14210G>T (p.Gly4737Val) c.14189G>T (p.Gly4730Val) c.14168G>T (p.Gly4723Val) c.13112G>T (p.Gly4371Val) c.14651G>T (p.Gly4884Val) c.8393G>T (p.Gly2798Val) c.14750G>T (p.Gly4917Val) c.14687G>T (p.Gly4896Val) c.14516G>T (p.Gly4839Val) c.14126G>T (p.Gly4709Val) c.9317G>T (p.Gly3106Val) c.8492G>T (p.Gly2831Val) c.8258G>T (p.Gly2753Val) c.8180G>T (p.Gly2727Val) c.14069G>T (p.Gly4690Val) | gnomAD v4 |
| 6 | g.56555758C>G | CA364519811 | DST | c.7832G>C (p.Gly2611Ala) c.8366G>C (p.Gly2789Ala) c.7952G>C (p.Gly2651Ala) n.694G>C c.14723G>C (p.Gly4908Ala) c.6854G>C (p.Gly2285Ala) c.14090G>C (p.Gly4697Ala) n.432G>C c.14624G>C (p.Gly4875Ala) c.14438G>C (p.Gly4813Ala) c.14309G>C (p.Gly4770Ala) c.14210G>C (p.Gly4737Ala) c.14189G>C (p.Gly4730Ala) c.14168G>C (p.Gly4723Ala) c.13112G>C (p.Gly4371Ala) c.14651G>C (p.Gly4884Ala) c.8393G>C (p.Gly2798Ala) c.14750G>C (p.Gly4917Ala) c.14687G>C (p.Gly4896Ala) c.14516G>C (p.Gly4839Ala) c.14126G>C (p.Gly4709Ala) c.9317G>C (p.Gly3106Ala) c.8492G>C (p.Gly2831Ala) c.8258G>C (p.Gly2753Ala) c.8180G>C (p.Gly2727Ala) c.14069G>C (p.Gly4690Ala) | |
| 6 | g.56555758C>T | CA364519812 | DST | c.7832G>A (p.Gly2611Glu) c.8366G>A (p.Gly2789Glu) c.7952G>A (p.Gly2651Glu) n.694G>A c.14723G>A (p.Gly4908Glu) c.6854G>A (p.Gly2285Glu) c.14090G>A (p.Gly4697Glu) n.432G>A c.14624G>A (p.Gly4875Glu) c.14438G>A (p.Gly4813Glu) c.14309G>A (p.Gly4770Glu) c.14210G>A (p.Gly4737Glu) c.14189G>A (p.Gly4730Glu) c.14168G>A (p.Gly4723Glu) c.13112G>A (p.Gly4371Glu) c.14651G>A (p.Gly4884Glu) c.8393G>A (p.Gly2798Glu) c.14750G>A (p.Gly4917Glu) c.14687G>A (p.Gly4896Glu) c.14516G>A (p.Gly4839Glu) c.14126G>A (p.Gly4709Glu) c.9317G>A (p.Gly3106Glu) c.8492G>A (p.Gly2831Glu) c.8258G>A (p.Gly2753Glu) c.8180G>A (p.Gly2727Glu) c.14069G>A (p.Gly4690Glu) | |
| 6 | g.56555759C>A | CA364519814 | DST | c.7831G>T (p.Gly2611Ter) c.8365G>T (p.Gly2789Ter) c.7951G>T (p.Gly2651Ter) n.693G>T c.14722G>T (p.Gly4908Ter) c.6853G>T (p.Gly2285Ter) c.14089G>T (p.Gly4697Ter) n.431G>T c.14623G>T (p.Gly4875Ter) c.14437G>T (p.Gly4813Ter) c.14308G>T (p.Gly4770Ter) c.14209G>T (p.Gly4737Ter) c.14188G>T (p.Gly4730Ter) c.14167G>T (p.Gly4723Ter) c.13111G>T (p.Gly4371Ter) c.14650G>T (p.Gly4884Ter) c.8392G>T (p.Gly2798Ter) c.14749G>T (p.Gly4917Ter) c.14686G>T (p.Gly4896Ter) c.14515G>T (p.Gly4839Ter) c.14125G>T (p.Gly4709Ter) c.9316G>T (p.Gly3106Ter) c.8491G>T (p.Gly2831Ter) c.8257G>T (p.Gly2753Ter) c.8179G>T (p.Gly2727Ter) c.14068G>T (p.Gly4690Ter) | |
| 6 | g.56555759C>G | CA364519815 | DST | c.7831G>C (p.Gly2611Arg) c.8365G>C (p.Gly2789Arg) c.7951G>C (p.Gly2651Arg) n.693G>C c.14722G>C (p.Gly4908Arg) c.6853G>C (p.Gly2285Arg) c.14089G>C (p.Gly4697Arg) n.431G>C c.14623G>C (p.Gly4875Arg) c.14437G>C (p.Gly4813Arg) c.14308G>C (p.Gly4770Arg) c.14209G>C (p.Gly4737Arg) c.14188G>C (p.Gly4730Arg) c.14167G>C (p.Gly4723Arg) c.13111G>C (p.Gly4371Arg) c.14650G>C (p.Gly4884Arg) c.8392G>C (p.Gly2798Arg) c.14749G>C (p.Gly4917Arg) c.14686G>C (p.Gly4896Arg) c.14515G>C (p.Gly4839Arg) c.14125G>C (p.Gly4709Arg) c.9316G>C (p.Gly3106Arg) c.8491G>C (p.Gly2831Arg) c.8257G>C (p.Gly2753Arg) c.8179G>C (p.Gly2727Arg) c.14068G>C (p.Gly4690Arg) | |
| 6 | g.56555759C>T | CA364519816 | DST | c.7831G>A (p.Gly2611Arg) c.8365G>A (p.Gly2789Arg) c.7951G>A (p.Gly2651Arg) n.693G>A c.14722G>A (p.Gly4908Arg) c.6853G>A (p.Gly2285Arg) c.14089G>A (p.Gly4697Arg) n.431G>A c.14623G>A (p.Gly4875Arg) c.14437G>A (p.Gly4813Arg) c.14308G>A (p.Gly4770Arg) c.14209G>A (p.Gly4737Arg) c.14188G>A (p.Gly4730Arg) c.14167G>A (p.Gly4723Arg) c.13111G>A (p.Gly4371Arg) c.14650G>A (p.Gly4884Arg) c.8392G>A (p.Gly2798Arg) c.14749G>A (p.Gly4917Arg) c.14686G>A (p.Gly4896Arg) c.14515G>A (p.Gly4839Arg) c.14125G>A (p.Gly4709Arg) c.9316G>A (p.Gly3106Arg) c.8491G>A (p.Gly2831Arg) c.8257G>A (p.Gly2753Arg) c.8179G>A (p.Gly2727Arg) c.14068G>A (p.Gly4690Arg) | |
| 6 | g.56555760A>C | CA450620064 | DST | c.7830T>G (p.Pro2610=) c.8364T>G (p.Pro2788=) c.7950T>G (p.Pro2650=) n.692T>G c.14721T>G (p.Pro4907=) c.6852T>G (p.Pro2284=) c.14088T>G (p.Pro4696=) n.430T>G c.14622T>G (p.Pro4874=) c.14436T>G (p.Pro4812=) c.14307T>G (p.Pro4769=) c.14208T>G (p.Pro4736=) c.14187T>G (p.Pro4729=) c.14166T>G (p.Pro4722=) c.13110T>G (p.Pro4370=) c.14649T>G (p.Pro4883=) c.8391T>G (p.Pro2797=) c.14748T>G (p.Pro4916=) c.14685T>G (p.Pro4895=) c.14514T>G (p.Pro4838=) c.14124T>G (p.Pro4708=) c.9315T>G (p.Pro3105=) c.8490T>G (p.Pro2830=) c.8256T>G (p.Pro2752=) c.8178T>G (p.Pro2726=) c.14067T>G (p.Pro4689=) | |
| 6 | g.56555760A>G | CA450620066 | DST | c.7830T>C (p.Pro2610=) c.8364T>C (p.Pro2788=) c.7950T>C (p.Pro2650=) n.692T>C c.14721T>C (p.Pro4907=) c.6852T>C (p.Pro2284=) c.14088T>C (p.Pro4696=) n.430T>C c.14622T>C (p.Pro4874=) c.14436T>C (p.Pro4812=) c.14307T>C (p.Pro4769=) c.14208T>C (p.Pro4736=) c.14187T>C (p.Pro4729=) c.14166T>C (p.Pro4722=) c.13110T>C (p.Pro4370=) c.14649T>C (p.Pro4883=) c.8391T>C (p.Pro2797=) c.14748T>C (p.Pro4916=) c.14685T>C (p.Pro4895=) c.14514T>C (p.Pro4838=) c.14124T>C (p.Pro4708=) c.9315T>C (p.Pro3105=) c.8490T>C (p.Pro2830=) c.8256T>C (p.Pro2752=) c.8178T>C (p.Pro2726=) c.14067T>C (p.Pro4689=) | |
| 6 | g.56555760A>T | CA450620067 | DST | c.7830T>A (p.Pro2610=) c.8364T>A (p.Pro2788=) c.7950T>A (p.Pro2650=) n.692T>A c.14721T>A (p.Pro4907=) c.6852T>A (p.Pro2284=) c.14088T>A (p.Pro4696=) n.430T>A c.14622T>A (p.Pro4874=) c.14436T>A (p.Pro4812=) c.14307T>A (p.Pro4769=) c.14208T>A (p.Pro4736=) c.14187T>A (p.Pro4729=) c.14166T>A (p.Pro4722=) c.13110T>A (p.Pro4370=) c.14649T>A (p.Pro4883=) c.8391T>A (p.Pro2797=) c.14748T>A (p.Pro4916=) c.14685T>A (p.Pro4895=) c.14514T>A (p.Pro4838=) c.14124T>A (p.Pro4708=) c.9315T>A (p.Pro3105=) c.8490T>A (p.Pro2830=) c.8256T>A (p.Pro2752=) c.8178T>A (p.Pro2726=) c.14067T>A (p.Pro4689=) | |
| 6 | g.56555761G>A | CA364519817 | DST | c.7829C>T (p.Pro2610Leu) c.8363C>T (p.Pro2788Leu) c.7949C>T (p.Pro2650Leu) n.691C>T c.14720C>T (p.Pro4907Leu) c.6851C>T (p.Pro2284Leu) c.14087C>T (p.Pro4696Leu) n.429C>T c.14621C>T (p.Pro4874Leu) c.14435C>T (p.Pro4812Leu) c.14306C>T (p.Pro4769Leu) c.14207C>T (p.Pro4736Leu) c.14186C>T (p.Pro4729Leu) c.14165C>T (p.Pro4722Leu) c.13109C>T (p.Pro4370Leu) c.14648C>T (p.Pro4883Leu) c.8390C>T (p.Pro2797Leu) c.14747C>T (p.Pro4916Leu) c.14684C>T (p.Pro4895Leu) c.14513C>T (p.Pro4838Leu) c.14123C>T (p.Pro4708Leu) c.9314C>T (p.Pro3105Leu) c.8489C>T (p.Pro2830Leu) c.8255C>T (p.Pro2752Leu) c.8177C>T (p.Pro2726Leu) c.14066C>T (p.Pro4689Leu) | |
| 6 | g.56555761G>C | CA364519818 | DST | c.7829C>G (p.Pro2610Arg) c.8363C>G (p.Pro2788Arg) c.7949C>G (p.Pro2650Arg) n.691C>G c.14720C>G (p.Pro4907Arg) c.6851C>G (p.Pro2284Arg) c.14087C>G (p.Pro4696Arg) n.429C>G c.14621C>G (p.Pro4874Arg) c.14435C>G (p.Pro4812Arg) c.14306C>G (p.Pro4769Arg) c.14207C>G (p.Pro4736Arg) c.14186C>G (p.Pro4729Arg) c.14165C>G (p.Pro4722Arg) c.13109C>G (p.Pro4370Arg) c.14648C>G (p.Pro4883Arg) c.8390C>G (p.Pro2797Arg) c.14747C>G (p.Pro4916Arg) c.14684C>G (p.Pro4895Arg) c.14513C>G (p.Pro4838Arg) c.14123C>G (p.Pro4708Arg) c.9314C>G (p.Pro3105Arg) c.8489C>G (p.Pro2830Arg) c.8255C>G (p.Pro2752Arg) c.8177C>G (p.Pro2726Arg) c.14066C>G (p.Pro4689Arg) | |
| 6 | g.56555761G>T | CA364519819 | DST | c.7829C>A (p.Pro2610His) c.8363C>A (p.Pro2788His) c.7949C>A (p.Pro2650His) n.691C>A c.14720C>A (p.Pro4907His) c.6851C>A (p.Pro2284His) c.14087C>A (p.Pro4696His) n.429C>A c.14621C>A (p.Pro4874His) c.14435C>A (p.Pro4812His) c.14306C>A (p.Pro4769His) c.14207C>A (p.Pro4736His) c.14186C>A (p.Pro4729His) c.14165C>A (p.Pro4722His) c.13109C>A (p.Pro4370His) c.14648C>A (p.Pro4883His) c.8390C>A (p.Pro2797His) c.14747C>A (p.Pro4916His) c.14684C>A (p.Pro4895His) c.14513C>A (p.Pro4838His) c.14123C>A (p.Pro4708His) c.9314C>A (p.Pro3105His) c.8489C>A (p.Pro2830His) c.8255C>A (p.Pro2752His) c.8177C>A (p.Pro2726His) c.14066C>A (p.Pro4689His) | |
| 6 | g.56555762G>A | CA139207580 | DST | c.7828C>T (p.Pro2610Ser) c.8362C>T (p.Pro2788Ser) c.7948C>T (p.Pro2650Ser) n.690C>T c.14719C>T (p.Pro4907Ser) c.6850C>T (p.Pro2284Ser) c.14086C>T (p.Pro4696Ser) n.428C>T c.14620C>T (p.Pro4874Ser) c.14434C>T (p.Pro4812Ser) c.14305C>T (p.Pro4769Ser) c.14206C>T (p.Pro4736Ser) c.14185C>T (p.Pro4729Ser) c.14164C>T (p.Pro4722Ser) c.13108C>T (p.Pro4370Ser) c.14647C>T (p.Pro4883Ser) c.8389C>T (p.Pro2797Ser) c.14746C>T (p.Pro4916Ser) c.14683C>T (p.Pro4895Ser) c.14512C>T (p.Pro4838Ser) c.14122C>T (p.Pro4708Ser) c.9313C>T (p.Pro3105Ser) c.8488C>T (p.Pro2830Ser) c.8254C>T (p.Pro2752Ser) c.8176C>T (p.Pro2726Ser) c.14065C>T (p.Pro4689Ser) | dbSNP gnomAD v4 |
| 6 | g.56555762G>C | CA364519820 | DST | c.7828C>G (p.Pro2610Ala) c.8362C>G (p.Pro2788Ala) c.7948C>G (p.Pro2650Ala) n.690C>G c.14719C>G (p.Pro4907Ala) c.6850C>G (p.Pro2284Ala) c.14086C>G (p.Pro4696Ala) n.428C>G c.14620C>G (p.Pro4874Ala) c.14434C>G (p.Pro4812Ala) c.14305C>G (p.Pro4769Ala) c.14206C>G (p.Pro4736Ala) c.14185C>G (p.Pro4729Ala) c.14164C>G (p.Pro4722Ala) c.13108C>G (p.Pro4370Ala) c.14647C>G (p.Pro4883Ala) c.8389C>G (p.Pro2797Ala) c.14746C>G (p.Pro4916Ala) c.14683C>G (p.Pro4895Ala) c.14512C>G (p.Pro4838Ala) c.14122C>G (p.Pro4708Ala) c.9313C>G (p.Pro3105Ala) c.8488C>G (p.Pro2830Ala) c.8254C>G (p.Pro2752Ala) c.8176C>G (p.Pro2726Ala) c.14065C>G (p.Pro4689Ala) | |
| 6 | g.56555762G= | CA1630147882 | DST | c.7828C= (p.Pro2610=) c.8362C= (p.Pro2788=) c.7948C= (p.Pro2650=) n.690C= c.14719C= (p.Pro4907=) c.6850C= (p.Pro2284=) c.14086C= (p.Pro4696=) n.428C= c.14620C= (p.Pro4874=) c.14434C= (p.Pro4812=) c.14305C= (p.Pro4769=) c.14206C= (p.Pro4736=) c.14185C= (p.Pro4729=) c.14164C= (p.Pro4722=) c.13108C= (p.Pro4370=) c.14647C= (p.Pro4883=) c.8389C= (p.Pro2797=) c.14746C= (p.Pro4916=) c.14683C= (p.Pro4895=) c.14512C= (p.Pro4838=) c.14122C= (p.Pro4708=) c.9313C= (p.Pro3105=) c.8488C= (p.Pro2830=) c.8254C= (p.Pro2752=) c.8176C= (p.Pro2726=) c.14065C= (p.Pro4689=) | |
| 6 | g.56555762G>T | CA3867939 | DST | c.7828C>A (p.Pro2610Thr) c.8362C>A (p.Pro2788Thr) c.7948C>A (p.Pro2650Thr) n.690C>A c.14719C>A (p.Pro4907Thr) c.6850C>A (p.Pro2284Thr) c.14086C>A (p.Pro4696Thr) n.428C>A c.14620C>A (p.Pro4874Thr) c.14434C>A (p.Pro4812Thr) c.14305C>A (p.Pro4769Thr) c.14206C>A (p.Pro4736Thr) c.14185C>A (p.Pro4729Thr) c.14164C>A (p.Pro4722Thr) c.13108C>A (p.Pro4370Thr) c.14647C>A (p.Pro4883Thr) c.8389C>A (p.Pro2797Thr) c.14746C>A (p.Pro4916Thr) c.14683C>A (p.Pro4895Thr) c.14512C>A (p.Pro4838Thr) c.14122C>A (p.Pro4708Thr) c.9313C>A (p.Pro3105Thr) c.8488C>A (p.Pro2830Thr) c.8254C>A (p.Pro2752Thr) c.8176C>A (p.Pro2726Thr) c.14065C>A (p.Pro4689Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.56555763C>A | CA364519821 | DST | c.7827G>T (p.Arg2609Ser) c.8361G>T (p.Arg2787Ser) c.7947G>T (p.Arg2649Ser) n.689G>T c.14718G>T (p.Arg4906Ser) c.6849G>T (p.Arg2283Ser) c.14085G>T (p.Arg4695Ser) n.427G>T c.14619G>T (p.Arg4873Ser) c.14433G>T (p.Arg4811Ser) c.14304G>T (p.Arg4768Ser) c.14205G>T (p.Arg4735Ser) c.14184G>T (p.Arg4728Ser) c.14163G>T (p.Arg4721Ser) c.13107G>T (p.Arg4369Ser) c.14646G>T (p.Arg4882Ser) c.8388G>T (p.Arg2796Ser) c.14745G>T (p.Arg4915Ser) c.14682G>T (p.Arg4894Ser) c.14511G>T (p.Arg4837Ser) c.14121G>T (p.Arg4707Ser) c.9312G>T (p.Arg3104Ser) c.8487G>T (p.Arg2829Ser) c.8253G>T (p.Arg2751Ser) c.8175G>T (p.Arg2725Ser) c.14064G>T (p.Arg4688Ser) | gnomAD v4 |
| 6 | g.56555763C>G | CA364519822 | DST | c.7827G>C (p.Arg2609Ser) c.8361G>C (p.Arg2787Ser) c.7947G>C (p.Arg2649Ser) n.689G>C c.14718G>C (p.Arg4906Ser) c.6849G>C (p.Arg2283Ser) c.14085G>C (p.Arg4695Ser) n.427G>C c.14619G>C (p.Arg4873Ser) c.14433G>C (p.Arg4811Ser) c.14304G>C (p.Arg4768Ser) c.14205G>C (p.Arg4735Ser) c.14184G>C (p.Arg4728Ser) c.14163G>C (p.Arg4721Ser) c.13107G>C (p.Arg4369Ser) c.14646G>C (p.Arg4882Ser) c.8388G>C (p.Arg2796Ser) c.14745G>C (p.Arg4915Ser) c.14682G>C (p.Arg4894Ser) c.14511G>C (p.Arg4837Ser) c.14121G>C (p.Arg4707Ser) c.9312G>C (p.Arg3104Ser) c.8487G>C (p.Arg2829Ser) c.8253G>C (p.Arg2751Ser) c.8175G>C (p.Arg2725Ser) c.14064G>C (p.Arg4688Ser) | |
| 6 | g.56555763C>T | CA450620070 | DST | c.7827G>A (p.Arg2609=) c.8361G>A (p.Arg2787=) c.7947G>A (p.Arg2649=) n.689G>A c.14718G>A (p.Arg4906=) c.6849G>A (p.Arg2283=) c.14085G>A (p.Arg4695=) n.427G>A c.14619G>A (p.Arg4873=) c.14433G>A (p.Arg4811=) c.14304G>A (p.Arg4768=) c.14205G>A (p.Arg4735=) c.14184G>A (p.Arg4728=) c.14163G>A (p.Arg4721=) c.13107G>A (p.Arg4369=) c.14646G>A (p.Arg4882=) c.8388G>A (p.Arg2796=) c.14745G>A (p.Arg4915=) c.14682G>A (p.Arg4894=) c.14511G>A (p.Arg4837=) c.14121G>A (p.Arg4707=) c.9312G>A (p.Arg3104=) c.8487G>A (p.Arg2829=) c.8253G>A (p.Arg2751=) c.8175G>A (p.Arg2725=) c.14064G>A (p.Arg4688=) | ClinVar dbSNP |
| 6 | g.56555764dup | CA2771166284 | DST | c.7827dup (p.Pro2610AlafsTer24) c.8361dup (p.Pro2788AlafsTer24) c.7947dup (p.Pro2650AlafsTer24) n.689dup c.14718dup (p.Pro4907AlafsTer24) c.6849dup (p.Pro2284AlafsTer24) c.14085dup (p.Pro4696AlafsTer24) n.427dup c.14619dup (p.Pro4874AlafsTer24) c.14433dup (p.Pro4812AlafsTer24) c.14304dup (p.Pro4769AlafsTer24) c.14205dup (p.Pro4736AlafsTer24) c.14184dup (p.Pro4729AlafsTer24) c.14163dup (p.Pro4722AlafsTer24) c.13107dup (p.Pro4370AlafsTer24) c.14646dup (p.Pro4883AlafsTer24) c.8388dup (p.Pro2797AlafsTer24) c.14745dup (p.Pro4916AlafsTer24) c.14682dup (p.Pro4895AlafsTer24) c.14511dup (p.Pro4838AlafsTer24) c.14121dup (p.Pro4708AlafsTer24) c.9312dup (p.Pro3105AlafsTer24) c.8487dup (p.Pro2830AlafsTer24) c.8253dup (p.Pro2752AlafsTer24) c.8175dup (p.Pro2726AlafsTer24) c.14064dup (p.Pro4689AlafsTer24) | |
| 6 | g.56555764C>A | CA364519825 | DST | c.7826G>T (p.Arg2609Met) c.8360G>T (p.Arg2787Met) c.7946G>T (p.Arg2649Met) n.688G>T c.14717G>T (p.Arg4906Met) c.6848G>T (p.Arg2283Met) c.14084G>T (p.Arg4695Met) n.426G>T c.14618G>T (p.Arg4873Met) c.14432G>T (p.Arg4811Met) c.14303G>T (p.Arg4768Met) c.14204G>T (p.Arg4735Met) c.14183G>T (p.Arg4728Met) c.14162G>T (p.Arg4721Met) c.13106G>T (p.Arg4369Met) c.14645G>T (p.Arg4882Met) c.8387G>T (p.Arg2796Met) c.14744G>T (p.Arg4915Met) c.14681G>T (p.Arg4894Met) c.14510G>T (p.Arg4837Met) c.14120G>T (p.Arg4707Met) c.9311G>T (p.Arg3104Met) c.8486G>T (p.Arg2829Met) c.8252G>T (p.Arg2751Met) c.8174G>T (p.Arg2725Met) c.14063G>T (p.Arg4688Met) | |
| 6 | g.56555764C>G | CA364519823 | DST | c.7826G>C (p.Arg2609Thr) c.8360G>C (p.Arg2787Thr) c.7946G>C (p.Arg2649Thr) n.688G>C c.14717G>C (p.Arg4906Thr) c.6848G>C (p.Arg2283Thr) c.14084G>C (p.Arg4695Thr) n.426G>C c.14618G>C (p.Arg4873Thr) c.14432G>C (p.Arg4811Thr) c.14303G>C (p.Arg4768Thr) c.14204G>C (p.Arg4735Thr) c.14183G>C (p.Arg4728Thr) c.14162G>C (p.Arg4721Thr) c.13106G>C (p.Arg4369Thr) c.14645G>C (p.Arg4882Thr) c.8387G>C (p.Arg2796Thr) c.14744G>C (p.Arg4915Thr) c.14681G>C (p.Arg4894Thr) c.14510G>C (p.Arg4837Thr) c.14120G>C (p.Arg4707Thr) c.9311G>C (p.Arg3104Thr) c.8486G>C (p.Arg2829Thr) c.8252G>C (p.Arg2751Thr) c.8174G>C (p.Arg2725Thr) c.14063G>C (p.Arg4688Thr) | |
| 6 | g.56555764C>T | CA364519824 | DST | c.7826G>A (p.Arg2609Lys) c.8360G>A (p.Arg2787Lys) c.7946G>A (p.Arg2649Lys) n.688G>A c.14717G>A (p.Arg4906Lys) c.6848G>A (p.Arg2283Lys) c.14084G>A (p.Arg4695Lys) n.426G>A c.14618G>A (p.Arg4873Lys) c.14432G>A (p.Arg4811Lys) c.14303G>A (p.Arg4768Lys) c.14204G>A (p.Arg4735Lys) c.14183G>A (p.Arg4728Lys) c.14162G>A (p.Arg4721Lys) c.13106G>A (p.Arg4369Lys) c.14645G>A (p.Arg4882Lys) c.8387G>A (p.Arg2796Lys) c.14744G>A (p.Arg4915Lys) c.14681G>A (p.Arg4894Lys) c.14510G>A (p.Arg4837Lys) c.14120G>A (p.Arg4707Lys) c.9311G>A (p.Arg3104Lys) c.8486G>A (p.Arg2829Lys) c.8252G>A (p.Arg2751Lys) c.8174G>A (p.Arg2725Lys) c.14063G>A (p.Arg4688Lys) | |
| 6 | g.56555764_56555780del | CA2679190293 | DST | c.7810_7826del (p.Gln2604AlafsTer24) c.8344_8360del (p.Gln2782AlafsTer24) c.7930_7946del (p.Gln2644AlafsTer24) n.672_688del c.14701_14717del (p.Gln4901AlafsTer24) c.6832_6848del (p.Gln2278AlafsTer24) c.14068_14084del (p.Gln4690AlafsTer24) n.410_426del c.14602_14618del (p.Gln4868AlafsTer24) c.14416_14432del (p.Gln4806AlafsTer24) c.14287_14303del (p.Gln4763AlafsTer24) c.14188_14204del (p.Gln4730AlafsTer24) c.14167_14183del (p.Gln4723AlafsTer24) c.14146_14162del (p.Gln4716AlafsTer24) c.13090_13106del (p.Gln4364AlafsTer24) c.14629_14645del (p.Gln4877AlafsTer24) c.8371_8387del (p.Gln2791AlafsTer24) c.14728_14744del (p.Gln4910AlafsTer24) c.14665_14681del (p.Gln4889AlafsTer24) c.14494_14510del (p.Gln4832AlafsTer24) c.14104_14120del (p.Gln4702AlafsTer24) c.9295_9311del (p.Gln3099AlafsTer24) c.8470_8486del (p.Gln2824AlafsTer24) c.8236_8252del (p.Gln2746AlafsTer24) c.8158_8174del (p.Gln2720AlafsTer24) c.14047_14063del (p.Gln4683AlafsTer24) | gnomAD v4 |
| 6 | g.56555765T>A | CA364519826 | DST | c.7825A>T (p.Arg2609Trp) c.8359A>T (p.Arg2787Trp) c.7945A>T (p.Arg2649Trp) n.687A>T c.14716A>T (p.Arg4906Trp) c.6847A>T (p.Arg2283Trp) c.14083A>T (p.Arg4695Trp) n.425A>T c.14617A>T (p.Arg4873Trp) c.14431A>T (p.Arg4811Trp) c.14302A>T (p.Arg4768Trp) c.14203A>T (p.Arg4735Trp) c.14182A>T (p.Arg4728Trp) c.14161A>T (p.Arg4721Trp) c.13105A>T (p.Arg4369Trp) c.14644A>T (p.Arg4882Trp) c.8386A>T (p.Arg2796Trp) c.14743A>T (p.Arg4915Trp) c.14680A>T (p.Arg4894Trp) c.14509A>T (p.Arg4837Trp) c.14119A>T (p.Arg4707Trp) c.9310A>T (p.Arg3104Trp) c.8485A>T (p.Arg2829Trp) c.8251A>T (p.Arg2751Trp) c.8173A>T (p.Arg2725Trp) c.14062A>T (p.Arg4688Trp) | |
| 6 | g.56555765T>C | CA3867940 | DST | c.7825A>G (p.Arg2609Gly) c.8359A>G (p.Arg2787Gly) c.7945A>G (p.Arg2649Gly) n.687A>G c.14716A>G (p.Arg4906Gly) c.6847A>G (p.Arg2283Gly) c.14083A>G (p.Arg4695Gly) n.425A>G c.14617A>G (p.Arg4873Gly) c.14431A>G (p.Arg4811Gly) c.14302A>G (p.Arg4768Gly) c.14203A>G (p.Arg4735Gly) c.14182A>G (p.Arg4728Gly) c.14161A>G (p.Arg4721Gly) c.13105A>G (p.Arg4369Gly) c.14644A>G (p.Arg4882Gly) c.8386A>G (p.Arg2796Gly) c.14743A>G (p.Arg4915Gly) c.14680A>G (p.Arg4894Gly) c.14509A>G (p.Arg4837Gly) c.14119A>G (p.Arg4707Gly) c.9310A>G (p.Arg3104Gly) c.8485A>G (p.Arg2829Gly) c.8251A>G (p.Arg2751Gly) c.8173A>G (p.Arg2725Gly) c.14062A>G (p.Arg4688Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.56555765T>G | CA450620073 | DST | c.7825A>C (p.Arg2609=) c.8359A>C (p.Arg2787=) c.7945A>C (p.Arg2649=) n.687A>C c.14716A>C (p.Arg4906=) c.6847A>C (p.Arg2283=) c.14083A>C (p.Arg4695=) n.425A>C c.14617A>C (p.Arg4873=) c.14431A>C (p.Arg4811=) c.14302A>C (p.Arg4768=) c.14203A>C (p.Arg4735=) c.14182A>C (p.Arg4728=) c.14161A>C (p.Arg4721=) c.13105A>C (p.Arg4369=) c.14644A>C (p.Arg4882=) c.8386A>C (p.Arg2796=) c.14743A>C (p.Arg4915=) c.14680A>C (p.Arg4894=) c.14509A>C (p.Arg4837=) c.14119A>C (p.Arg4707=) c.9310A>C (p.Arg3104=) c.8485A>C (p.Arg2829=) c.8251A>C (p.Arg2751=) c.8173A>C (p.Arg2725=) c.14062A>C (p.Arg4688=) | |
| 6 | g.56555765T= | CA1630147883 | DST | c.7825A= (p.Arg2609=) c.8359A= (p.Arg2787=) c.7945A= (p.Arg2649=) n.687A= c.14716A= (p.Arg4906=) c.6847A= (p.Arg2283=) c.14083A= (p.Arg4695=) n.425A= c.14617A= (p.Arg4873=) c.14431A= (p.Arg4811=) c.14302A= (p.Arg4768=) c.14203A= (p.Arg4735=) c.14182A= (p.Arg4728=) c.14161A= (p.Arg4721=) c.13105A= (p.Arg4369=) c.14644A= (p.Arg4882=) c.8386A= (p.Arg2796=) c.14743A= (p.Arg4915=) c.14680A= (p.Arg4894=) c.14509A= (p.Arg4837=) c.14119A= (p.Arg4707=) c.9310A= (p.Arg3104=) c.8485A= (p.Arg2829=) c.8251A= (p.Arg2751=) c.8173A= (p.Arg2725=) c.14062A= (p.Arg4688=) | |
| 6 | g.56555766G>A | CA450620074 | DST | c.7824C>T (p.Ser2608=) c.8358C>T (p.Ser2786=) c.7944C>T (p.Ser2648=) n.686C>T c.14715C>T (p.Ser4905=) c.6846C>T (p.Ser2282=) c.14082C>T (p.Ser4694=) n.424C>T c.14616C>T (p.Ser4872=) c.14430C>T (p.Ser4810=) c.14301C>T (p.Ser4767=) c.14202C>T (p.Ser4734=) c.14181C>T (p.Ser4727=) c.14160C>T (p.Ser4720=) c.13104C>T (p.Ser4368=) c.14643C>T (p.Ser4881=) c.8385C>T (p.Ser2795=) c.14742C>T (p.Ser4914=) c.14679C>T (p.Ser4893=) c.14508C>T (p.Ser4836=) c.14118C>T (p.Ser4706=) c.9309C>T (p.Ser3103=) c.8484C>T (p.Ser2828=) c.8250C>T (p.Ser2750=) c.8172C>T (p.Ser2724=) c.14061C>T (p.Ser4687=) | gnomAD v4 |
| 6 | g.56555766G>C | CA364519827 | DST | c.7824C>G (p.Ser2608Arg) c.8358C>G (p.Ser2786Arg) c.7944C>G (p.Ser2648Arg) n.686C>G c.14715C>G (p.Ser4905Arg) c.6846C>G (p.Ser2282Arg) c.14082C>G (p.Ser4694Arg) n.424C>G c.14616C>G (p.Ser4872Arg) c.14430C>G (p.Ser4810Arg) c.14301C>G (p.Ser4767Arg) c.14202C>G (p.Ser4734Arg) c.14181C>G (p.Ser4727Arg) c.14160C>G (p.Ser4720Arg) c.13104C>G (p.Ser4368Arg) c.14643C>G (p.Ser4881Arg) c.8385C>G (p.Ser2795Arg) c.14742C>G (p.Ser4914Arg) c.14679C>G (p.Ser4893Arg) c.14508C>G (p.Ser4836Arg) c.14118C>G (p.Ser4706Arg) c.9309C>G (p.Ser3103Arg) c.8484C>G (p.Ser2828Arg) c.8250C>G (p.Ser2750Arg) c.8172C>G (p.Ser2724Arg) c.14061C>G (p.Ser4687Arg) | |
| 6 | g.56555766G>T | CA364519828 | DST | c.7824C>A (p.Ser2608Arg) c.8358C>A (p.Ser2786Arg) c.7944C>A (p.Ser2648Arg) n.686C>A c.14715C>A (p.Ser4905Arg) c.6846C>A (p.Ser2282Arg) c.14082C>A (p.Ser4694Arg) n.424C>A c.14616C>A (p.Ser4872Arg) c.14430C>A (p.Ser4810Arg) c.14301C>A (p.Ser4767Arg) c.14202C>A (p.Ser4734Arg) c.14181C>A (p.Ser4727Arg) c.14160C>A (p.Ser4720Arg) c.13104C>A (p.Ser4368Arg) c.14643C>A (p.Ser4881Arg) c.8385C>A (p.Ser2795Arg) c.14742C>A (p.Ser4914Arg) c.14679C>A (p.Ser4893Arg) c.14508C>A (p.Ser4836Arg) c.14118C>A (p.Ser4706Arg) c.9309C>A (p.Ser3103Arg) c.8484C>A (p.Ser2828Arg) c.8250C>A (p.Ser2750Arg) c.8172C>A (p.Ser2724Arg) c.14061C>A (p.Ser4687Arg) | |
| 6 | g.56555767C>A | CA364519829 | DST | c.7823G>T (p.Ser2608Ile) c.8357G>T (p.Ser2786Ile) c.7943G>T (p.Ser2648Ile) n.685G>T c.14714G>T (p.Ser4905Ile) c.6845G>T (p.Ser2282Ile) c.14081G>T (p.Ser4694Ile) n.423G>T c.14615G>T (p.Ser4872Ile) c.14429G>T (p.Ser4810Ile) c.14300G>T (p.Ser4767Ile) c.14201G>T (p.Ser4734Ile) c.14180G>T (p.Ser4727Ile) c.14159G>T (p.Ser4720Ile) c.13103G>T (p.Ser4368Ile) c.14642G>T (p.Ser4881Ile) c.8384G>T (p.Ser2795Ile) c.14741G>T (p.Ser4914Ile) c.14678G>T (p.Ser4893Ile) c.14507G>T (p.Ser4836Ile) c.14117G>T (p.Ser4706Ile) c.9308G>T (p.Ser3103Ile) c.8483G>T (p.Ser2828Ile) c.8249G>T (p.Ser2750Ile) c.8171G>T (p.Ser2724Ile) c.14060G>T (p.Ser4687Ile) | gnomAD v4 |
| 6 | g.56555767C= | CA1630147884 | DST | c.7823G= (p.Ser2608=) c.8357G= (p.Ser2786=) c.7943G= (p.Ser2648=) n.685G= c.14714G= (p.Ser4905=) c.6845G= (p.Ser2282=) c.14081G= (p.Ser4694=) n.423G= c.14615G= (p.Ser4872=) c.14429G= (p.Ser4810=) c.14300G= (p.Ser4767=) c.14201G= (p.Ser4734=) c.14180G= (p.Ser4727=) c.14159G= (p.Ser4720=) c.13103G= (p.Ser4368=) c.14642G= (p.Ser4881=) c.8384G= (p.Ser2795=) c.14741G= (p.Ser4914=) c.14678G= (p.Ser4893=) c.14507G= (p.Ser4836=) c.14117G= (p.Ser4706=) c.9308G= (p.Ser3103=) c.8483G= (p.Ser2828=) c.8249G= (p.Ser2750=) c.8171G= (p.Ser2724=) c.14060G= (p.Ser4687=) |