Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.90810896delCA2578360189ADGRV1c.15636del (p.Asn5213MetfsTer21)
c.4590del (p.Asn1531MetfsTer21)
n.2903del
c.265+134687del (n.265+134687del)
c.2046del (p.Asn683MetfsTer21)
c.2619del (p.Asn874MetfsTer21)
n.15649del
c.15633del (p.Asn5212MetfsTer21)
c.15555del (p.Asn5186MetfsTer21)
c.12939del (p.Asn4314MetfsTer21)
c.15657del (p.Asn5220MetfsTer21)
c.15654del (p.Asn5219MetfsTer21)
c.15576del (p.Asn5193MetfsTer21)
c.15561del (p.Asn5188MetfsTer21)
c.15477del (p.Asn5160MetfsTer21)
c.8775del (p.Asn2926MetfsTer21)
c.8754del (p.Asn2919MetfsTer21)
n.15652del
5g.90810896C>ACA445467962ADGRV1c.15636C>A (p.Ala5212=)
c.4590C>A (p.Ala1530=)
n.2903C>A
c.265+134687C>A (n.265+134687C>A)
c.2046C>A (p.Ala682=)
c.2619C>A (p.Ala873=)
n.15649C>A
c.15633C>A (p.Ala5211=)
c.15555C>A (p.Ala5185=)
c.12939C>A (p.Ala4313=)
c.15657C>A (p.Ala5219=)
c.15654C>A (p.Ala5218=)
c.15576C>A (p.Ala5192=)
c.15561C>A (p.Ala5187=)
c.15477C>A (p.Ala5159=)
c.8775C>A (p.Ala2925=)
c.8754C>A (p.Ala2918=)
n.15652C>A
5g.90810896C=CA1562911580ADGRV1c.15636C= (p.Ala5212=)
c.4590C= (p.Ala1530=)
n.2903C=
c.265+134687C= (n.265+134687C=)
c.2046C= (p.Ala682=)
c.2619C= (p.Ala873=)
n.15649C=
c.15633C= (p.Ala5211=)
c.15555C= (p.Ala5185=)
c.12939C= (p.Ala4313=)
c.15657C= (p.Ala5219=)
c.15654C= (p.Ala5218=)
c.15576C= (p.Ala5192=)
c.15561C= (p.Ala5187=)
c.15477C= (p.Ala5159=)
c.8775C= (p.Ala2925=)
c.8754C= (p.Ala2918=)
n.15652C=
5g.90810896C>GCA122821915ADGRV1c.15636C>G (p.Ala5212=)
c.4590C>G (p.Ala1530=)
n.2903C>G
c.265+134687C>G (n.265+134687C>G)
c.2046C>G (p.Ala682=)
c.2619C>G (p.Ala873=)
n.15649C>G
c.15633C>G (p.Ala5211=)
c.15555C>G (p.Ala5185=)
c.12939C>G (p.Ala4313=)
c.15657C>G (p.Ala5219=)
c.15654C>G (p.Ala5218=)
c.15576C>G (p.Ala5192=)
c.15561C>G (p.Ala5187=)
c.15477C>G (p.Ala5159=)
c.8775C>G (p.Ala2925=)
c.8754C>G (p.Ala2918=)
n.15652C>G
 dbSNP gnomAD v3 gnomAD v4
5g.90810896C>TCA445467961ADGRV1c.15636C>T (p.Ala5212=)
c.4590C>T (p.Ala1530=)
n.2903C>T
c.265+134687C>T (n.265+134687C>T)
c.2046C>T (p.Ala682=)
c.2619C>T (p.Ala873=)
n.15649C>T
c.15633C>T (p.Ala5211=)
c.15555C>T (p.Ala5185=)
c.12939C>T (p.Ala4313=)
c.15657C>T (p.Ala5219=)
c.15654C>T (p.Ala5218=)
c.15576C>T (p.Ala5192=)
c.15561C>T (p.Ala5187=)
c.15477C>T (p.Ala5159=)
c.8775C>T (p.Ala2925=)
c.8754C>T (p.Ala2918=)
n.15652C>T
5g.90810897A>CCA360410334ADGRV1c.15637A>C (p.Asn5213His)
c.4591A>C (p.Asn1531His)
n.2904A>C
c.265+134688A>C (n.265+134688A>C)
c.2047A>C (p.Asn683His)
c.2620A>C (p.Asn874His)
n.15650A>C
c.15634A>C (p.Asn5212His)
c.15556A>C (p.Asn5186His)
c.12940A>C (p.Asn4314His)
c.15658A>C (p.Asn5220His)
c.15655A>C (p.Asn5219His)
c.15577A>C (p.Asn5193His)
c.15562A>C (p.Asn5188His)
c.15478A>C (p.Asn5160His)
c.8776A>C (p.Asn2926His)
c.8755A>C (p.Asn2919His)
n.15653A>C
5g.90810897A>GCA360410336ADGRV1c.15637A>G (p.Asn5213Asp)
c.4591A>G (p.Asn1531Asp)
n.2904A>G
c.265+134688A>G (n.265+134688A>G)
c.2047A>G (p.Asn683Asp)
c.2620A>G (p.Asn874Asp)
n.15650A>G
c.15634A>G (p.Asn5212Asp)
c.15556A>G (p.Asn5186Asp)
c.12940A>G (p.Asn4314Asp)
c.15658A>G (p.Asn5220Asp)
c.15655A>G (p.Asn5219Asp)
c.15577A>G (p.Asn5193Asp)
c.15562A>G (p.Asn5188Asp)
c.15478A>G (p.Asn5160Asp)
c.8776A>G (p.Asn2926Asp)
c.8755A>G (p.Asn2919Asp)
n.15653A>G
5g.90810897A>TCA360410338ADGRV1c.15637A>T (p.Asn5213Tyr)
c.4591A>T (p.Asn1531Tyr)
n.2904A>T
c.265+134688A>T (n.265+134688A>T)
c.2047A>T (p.Asn683Tyr)
c.2620A>T (p.Asn874Tyr)
n.15650A>T
c.15634A>T (p.Asn5212Tyr)
c.15556A>T (p.Asn5186Tyr)
c.12940A>T (p.Asn4314Tyr)
c.15658A>T (p.Asn5220Tyr)
c.15655A>T (p.Asn5219Tyr)
c.15577A>T (p.Asn5193Tyr)
c.15562A>T (p.Asn5188Tyr)
c.15478A>T (p.Asn5160Tyr)
c.8776A>T (p.Asn2926Tyr)
c.8755A>T (p.Asn2919Tyr)
n.15653A>T
5g.90810898A=CA1562911581ADGRV1c.15638A= (p.Asn5213=)
c.4592A= (p.Asn1531=)
n.2905A=
c.265+134689A= (n.265+134689A=)
c.2048A= (p.Asn683=)
c.2621A= (p.Asn874=)
n.15651A=
c.15635A= (p.Asn5212=)
c.15557A= (p.Asn5186=)
c.12941A= (p.Asn4314=)
c.15659A= (p.Asn5220=)
c.15656A= (p.Asn5219=)
c.15578A= (p.Asn5193=)
c.15563A= (p.Asn5188=)
c.15479A= (p.Asn5160=)
c.8777A= (p.Asn2926=)
c.8756A= (p.Asn2919=)
n.15654A=
5g.90810898A>CCA360410340ADGRV1c.15638A>C (p.Asn5213Thr)
c.4592A>C (p.Asn1531Thr)
n.2905A>C
c.265+134689A>C (n.265+134689A>C)
c.2048A>C (p.Asn683Thr)
c.2621A>C (p.Asn874Thr)
n.15651A>C
c.15635A>C (p.Asn5212Thr)
c.15557A>C (p.Asn5186Thr)
c.12941A>C (p.Asn4314Thr)
c.15659A>C (p.Asn5220Thr)
c.15656A>C (p.Asn5219Thr)
c.15578A>C (p.Asn5193Thr)
c.15563A>C (p.Asn5188Thr)
c.15479A>C (p.Asn5160Thr)
c.8777A>C (p.Asn2926Thr)
c.8756A>C (p.Asn2919Thr)
n.15654A>C
5g.90810898A>GCA360410342ADGRV1c.15638A>G (p.Asn5213Ser)
c.4592A>G (p.Asn1531Ser)
n.2905A>G
c.265+134689A>G (n.265+134689A>G)
c.2048A>G (p.Asn683Ser)
c.2621A>G (p.Asn874Ser)
n.15651A>G
c.15635A>G (p.Asn5212Ser)
c.15557A>G (p.Asn5186Ser)
c.12941A>G (p.Asn4314Ser)
c.15659A>G (p.Asn5220Ser)
c.15656A>G (p.Asn5219Ser)
c.15578A>G (p.Asn5193Ser)
c.15563A>G (p.Asn5188Ser)
c.15479A>G (p.Asn5160Ser)
c.8777A>G (p.Asn2926Ser)
c.8756A>G (p.Asn2919Ser)
n.15654A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90810898A>TCA360410344ADGRV1c.15638A>T (p.Asn5213Ile)
c.4592A>T (p.Asn1531Ile)
n.2905A>T
c.265+134689A>T (n.265+134689A>T)
c.2048A>T (p.Asn683Ile)
c.2621A>T (p.Asn874Ile)
n.15651A>T
c.15635A>T (p.Asn5212Ile)
c.15557A>T (p.Asn5186Ile)
c.12941A>T (p.Asn4314Ile)
c.15659A>T (p.Asn5220Ile)
c.15656A>T (p.Asn5219Ile)
c.15578A>T (p.Asn5193Ile)
c.15563A>T (p.Asn5188Ile)
c.15479A>T (p.Asn5160Ile)
c.8777A>T (p.Asn2926Ile)
c.8756A>T (p.Asn2919Ile)
n.15654A>T
5g.90810899T>ACA360410346ADGRV1c.15639T>A (p.Asn5213Lys)
c.4593T>A (p.Asn1531Lys)
n.2906T>A
c.265+134690T>A (n.265+134690T>A)
c.2049T>A (p.Asn683Lys)
c.2622T>A (p.Asn874Lys)
n.15652T>A
c.15636T>A (p.Asn5212Lys)
c.15558T>A (p.Asn5186Lys)
c.12942T>A (p.Asn4314Lys)
c.15660T>A (p.Asn5220Lys)
c.15657T>A (p.Asn5219Lys)
c.15579T>A (p.Asn5193Lys)
c.15564T>A (p.Asn5188Lys)
c.15480T>A (p.Asn5160Lys)
c.8778T>A (p.Asn2926Lys)
c.8757T>A (p.Asn2919Lys)
n.15655T>A
5g.90810899T>CCA445467966ADGRV1c.15639T>C (p.Asn5213=)
c.4593T>C (p.Asn1531=)
n.2906T>C
c.265+134690T>C (n.265+134690T>C)
c.2049T>C (p.Asn683=)
c.2622T>C (p.Asn874=)
n.15652T>C
c.15636T>C (p.Asn5212=)
c.15558T>C (p.Asn5186=)
c.12942T>C (p.Asn4314=)
c.15660T>C (p.Asn5220=)
c.15657T>C (p.Asn5219=)
c.15579T>C (p.Asn5193=)
c.15564T>C (p.Asn5188=)
c.15480T>C (p.Asn5160=)
c.8778T>C (p.Asn2926=)
c.8757T>C (p.Asn2919=)
n.15655T>C
5g.90810899T>GCA360410347ADGRV1c.15639T>G (p.Asn5213Lys)
c.4593T>G (p.Asn1531Lys)
n.2906T>G
c.265+134690T>G (n.265+134690T>G)
c.2049T>G (p.Asn683Lys)
c.2622T>G (p.Asn874Lys)
n.15652T>G
c.15636T>G (p.Asn5212Lys)
c.15558T>G (p.Asn5186Lys)
c.12942T>G (p.Asn4314Lys)
c.15660T>G (p.Asn5220Lys)
c.15657T>G (p.Asn5219Lys)
c.15579T>G (p.Asn5193Lys)
c.15564T>G (p.Asn5188Lys)
c.15480T>G (p.Asn5160Lys)
c.8778T>G (p.Asn2926Lys)
c.8757T>G (p.Asn2919Lys)
n.15655T>G
5g.90810900G>ACA3341956ADGRV1c.15640G>A (p.Val5214Ile)
c.4594G>A (p.Val1532Ile)
n.2907G>A
c.265+134691G>A (n.265+134691G>A)
c.2050G>A (p.Val684Ile)
c.2623G>A (p.Val875Ile)
n.15653G>A
c.15637G>A (p.Val5213Ile)
c.15559G>A (p.Val5187Ile)
c.12943G>A (p.Val4315Ile)
c.15661G>A (p.Val5221Ile)
c.15658G>A (p.Val5220Ile)
c.15580G>A (p.Val5194Ile)
c.15565G>A (p.Val5189Ile)
c.15481G>A (p.Val5161Ile)
c.8779G>A (p.Val2927Ile)
c.8758G>A (p.Val2920Ile)
n.15656G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90810900G>CCA360410350ADGRV1c.15640G>C (p.Val5214Leu)
c.4594G>C (p.Val1532Leu)
n.2907G>C
c.265+134691G>C (n.265+134691G>C)
c.2050G>C (p.Val684Leu)
c.2623G>C (p.Val875Leu)
n.15653G>C
c.15637G>C (p.Val5213Leu)
c.15559G>C (p.Val5187Leu)
c.12943G>C (p.Val4315Leu)
c.15661G>C (p.Val5221Leu)
c.15658G>C (p.Val5220Leu)
c.15580G>C (p.Val5194Leu)
c.15565G>C (p.Val5189Leu)
c.15481G>C (p.Val5161Leu)
c.8779G>C (p.Val2927Leu)
c.8758G>C (p.Val2920Leu)
n.15656G>C
 dbSNP gnomAD v2 gnomAD v4
5g.90810900G=CA1562911582ADGRV1c.15640G= (p.Val5214=)
c.4594G= (p.Val1532=)
n.2907G=
c.265+134691G= (n.265+134691G=)
c.2050G= (p.Val684=)
c.2623G= (p.Val875=)
n.15653G=
c.15637G= (p.Val5213=)
c.15559G= (p.Val5187=)
c.12943G= (p.Val4315=)
c.15661G= (p.Val5221=)
c.15658G= (p.Val5220=)
c.15580G= (p.Val5194=)
c.15565G= (p.Val5189=)
c.15481G= (p.Val5161=)
c.8779G= (p.Val2927=)
c.8758G= (p.Val2920=)
n.15656G=
5g.90810900G>TCA360410352ADGRV1c.15640G>T (p.Val5214Phe)
c.4594G>T (p.Val1532Phe)
n.2907G>T
c.265+134691G>T (n.265+134691G>T)
c.2050G>T (p.Val684Phe)
c.2623G>T (p.Val875Phe)
n.15653G>T
c.15637G>T (p.Val5213Phe)
c.15559G>T (p.Val5187Phe)
c.12943G>T (p.Val4315Phe)
c.15661G>T (p.Val5221Phe)
c.15658G>T (p.Val5220Phe)
c.15580G>T (p.Val5194Phe)
c.15565G>T (p.Val5189Phe)
c.15481G>T (p.Val5161Phe)
c.8779G>T (p.Val2927Phe)
c.8758G>T (p.Val2920Phe)
n.15656G>T
5g.90810901T>ACA360410358ADGRV1c.15641T>A (p.Val5214Asp)
c.4595T>A (p.Val1532Asp)
n.2908T>A
c.265+134692T>A (n.265+134692T>A)
c.2051T>A (p.Val684Asp)
c.2624T>A (p.Val875Asp)
n.15654T>A
c.15638T>A (p.Val5213Asp)
c.15560T>A (p.Val5187Asp)
c.12944T>A (p.Val4315Asp)
c.15662T>A (p.Val5221Asp)
c.15659T>A (p.Val5220Asp)
c.15581T>A (p.Val5194Asp)
c.15566T>A (p.Val5189Asp)
c.15482T>A (p.Val5161Asp)
c.8780T>A (p.Val2927Asp)
c.8759T>A (p.Val2920Asp)
n.15657T>A
5g.90810901T>CCA360410356ADGRV1c.15641T>C (p.Val5214Ala)
c.4595T>C (p.Val1532Ala)
n.2908T>C
c.265+134692T>C (n.265+134692T>C)
c.2051T>C (p.Val684Ala)
c.2624T>C (p.Val875Ala)
n.15654T>C
c.15638T>C (p.Val5213Ala)
c.15560T>C (p.Val5187Ala)
c.12944T>C (p.Val4315Ala)
c.15662T>C (p.Val5221Ala)
c.15659T>C (p.Val5220Ala)
c.15581T>C (p.Val5194Ala)
c.15566T>C (p.Val5189Ala)
c.15482T>C (p.Val5161Ala)
c.8780T>C (p.Val2927Ala)
c.8759T>C (p.Val2920Ala)
n.15657T>C
5g.90810901T>GCA360410354ADGRV1c.15641T>G (p.Val5214Gly)
c.4595T>G (p.Val1532Gly)
n.2908T>G
c.265+134692T>G (n.265+134692T>G)
c.2051T>G (p.Val684Gly)
c.2624T>G (p.Val875Gly)
n.15654T>G
c.15638T>G (p.Val5213Gly)
c.15560T>G (p.Val5187Gly)
c.12944T>G (p.Val4315Gly)
c.15662T>G (p.Val5221Gly)
c.15659T>G (p.Val5220Gly)
c.15581T>G (p.Val5194Gly)
c.15566T>G (p.Val5189Gly)
c.15482T>G (p.Val5161Gly)
c.8780T>G (p.Val2927Gly)
c.8759T>G (p.Val2920Gly)
n.15657T>G
5g.90810902T>ACA445467970ADGRV1c.15642T>A (p.Val5214=)
c.4596T>A (p.Val1532=)
n.2909T>A
c.265+134693T>A (n.265+134693T>A)
c.2052T>A (p.Val684=)
c.2625T>A (p.Val875=)
n.15655T>A
c.15639T>A (p.Val5213=)
c.15561T>A (p.Val5187=)
c.12945T>A (p.Val4315=)
c.15663T>A (p.Val5221=)
c.15660T>A (p.Val5220=)
c.15582T>A (p.Val5194=)
c.15567T>A (p.Val5189=)
c.15483T>A (p.Val5161=)
c.8781T>A (p.Val2927=)
c.8760T>A (p.Val2920=)
n.15658T>A
5g.90810902T>CCA445467972ADGRV1c.15642T>C (p.Val5214=)
c.4596T>C (p.Val1532=)
n.2909T>C
c.265+134693T>C (n.265+134693T>C)
c.2052T>C (p.Val684=)
c.2625T>C (p.Val875=)
n.15655T>C
c.15639T>C (p.Val5213=)
c.15561T>C (p.Val5187=)
c.12945T>C (p.Val4315=)
c.15663T>C (p.Val5221=)
c.15660T>C (p.Val5220=)
c.15582T>C (p.Val5194=)
c.15567T>C (p.Val5189=)
c.15483T>C (p.Val5161=)
c.8781T>C (p.Val2927=)
c.8760T>C (p.Val2920=)
n.15658T>C
5g.90810902T>GCA445467973ADGRV1c.15642T>G (p.Val5214=)
c.4596T>G (p.Val1532=)
n.2909T>G
c.265+134693T>G (n.265+134693T>G)
c.2052T>G (p.Val684=)
c.2625T>G (p.Val875=)
n.15655T>G
c.15639T>G (p.Val5213=)
c.15561T>G (p.Val5187=)
c.12945T>G (p.Val4315=)
c.15663T>G (p.Val5221=)
c.15660T>G (p.Val5220=)
c.15582T>G (p.Val5194=)
c.15567T>G (p.Val5189=)
c.15483T>G (p.Val5161=)
c.8781T>G (p.Val2927=)
c.8760T>G (p.Val2920=)
n.15658T>G
5g.90810903T>ACA360410360ADGRV1c.15643T>A (p.Ser5215Thr)
c.4597T>A (p.Ser1533Thr)
n.2910T>A
c.265+134694T>A (n.265+134694T>A)
c.2053T>A (p.Ser685Thr)
c.2626T>A (p.Ser876Thr)
n.15656T>A
c.15640T>A (p.Ser5214Thr)
c.15562T>A (p.Ser5188Thr)
c.12946T>A (p.Ser4316Thr)
c.15664T>A (p.Ser5222Thr)
c.15661T>A (p.Ser5221Thr)
c.15583T>A (p.Ser5195Thr)
c.15568T>A (p.Ser5190Thr)
c.15484T>A (p.Ser5162Thr)
c.8782T>A (p.Ser2928Thr)
c.8761T>A (p.Ser2921Thr)
n.15659T>A
5g.90810903T>CCA360410363ADGRV1c.15643T>C (p.Ser5215Pro)
c.4597T>C (p.Ser1533Pro)
n.2910T>C
c.265+134694T>C (n.265+134694T>C)
c.2053T>C (p.Ser685Pro)
c.2626T>C (p.Ser876Pro)
n.15656T>C
c.15640T>C (p.Ser5214Pro)
c.15562T>C (p.Ser5188Pro)
c.12946T>C (p.Ser4316Pro)
c.15664T>C (p.Ser5222Pro)
c.15661T>C (p.Ser5221Pro)
c.15583T>C (p.Ser5195Pro)
c.15568T>C (p.Ser5190Pro)
c.15484T>C (p.Ser5162Pro)
c.8782T>C (p.Ser2928Pro)
c.8761T>C (p.Ser2921Pro)
n.15659T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90810903T>GCA360410362ADGRV1c.15643T>G (p.Ser5215Ala)
c.4597T>G (p.Ser1533Ala)
n.2910T>G
c.265+134694T>G (n.265+134694T>G)
c.2053T>G (p.Ser685Ala)
c.2626T>G (p.Ser876Ala)
n.15656T>G
c.15640T>G (p.Ser5214Ala)
c.15562T>G (p.Ser5188Ala)
c.12946T>G (p.Ser4316Ala)
c.15664T>G (p.Ser5222Ala)
c.15661T>G (p.Ser5221Ala)
c.15583T>G (p.Ser5195Ala)
c.15568T>G (p.Ser5190Ala)
c.15484T>G (p.Ser5162Ala)
c.8782T>G (p.Ser2928Ala)
c.8761T>G (p.Ser2921Ala)
n.15659T>G
 ClinVar gnomAD v4
5g.90810903T=CA1562908317ADGRV1c.15643T= (p.Ser5215=)
c.4597T= (p.Ser1533=)
n.2910T=
c.265+134694T= (n.265+134694T=)
c.2053T= (p.Ser685=)
c.2626T= (p.Ser876=)
n.15656T=
c.15640T= (p.Ser5214=)
c.15562T= (p.Ser5188=)
c.12946T= (p.Ser4316=)
c.15664T= (p.Ser5222=)
c.15661T= (p.Ser5221=)
c.15583T= (p.Ser5195=)
c.15568T= (p.Ser5190=)
c.15484T= (p.Ser5162=)
c.8782T= (p.Ser2928=)
c.8761T= (p.Ser2921=)
n.15659T=
5g.90810904C>ACA360410366ADGRV1c.15644C>A (p.Ser5215Tyr)
c.4598C>A (p.Ser1533Tyr)
n.2911C>A
c.265+134695C>A (n.265+134695C>A)
c.2054C>A (p.Ser685Tyr)
c.2627C>A (p.Ser876Tyr)
n.15657C>A
c.15641C>A (p.Ser5214Tyr)
c.15563C>A (p.Ser5188Tyr)
c.12947C>A (p.Ser4316Tyr)
c.15665C>A (p.Ser5222Tyr)
c.15662C>A (p.Ser5221Tyr)
c.15584C>A (p.Ser5195Tyr)
c.15569C>A (p.Ser5190Tyr)
c.15485C>A (p.Ser5162Tyr)
c.8783C>A (p.Ser2928Tyr)
c.8762C>A (p.Ser2921Tyr)
n.15660C>A
5g.90810904C>GCA360410368ADGRV1c.15644C>G (p.Ser5215Cys)
c.4598C>G (p.Ser1533Cys)
n.2911C>G
c.265+134695C>G (n.265+134695C>G)
c.2054C>G (p.Ser685Cys)
c.2627C>G (p.Ser876Cys)
n.15657C>G
c.15641C>G (p.Ser5214Cys)
c.15563C>G (p.Ser5188Cys)
c.12947C>G (p.Ser4316Cys)
c.15665C>G (p.Ser5222Cys)
c.15662C>G (p.Ser5221Cys)
c.15584C>G (p.Ser5195Cys)
c.15569C>G (p.Ser5190Cys)
c.15485C>G (p.Ser5162Cys)
c.8783C>G (p.Ser2928Cys)
c.8762C>G (p.Ser2921Cys)
n.15660C>G
5g.90810904C>TCA360410370ADGRV1c.15644C>T (p.Ser5215Phe)
c.4598C>T (p.Ser1533Phe)
n.2911C>T
c.265+134695C>T (n.265+134695C>T)
c.2054C>T (p.Ser685Phe)
c.2627C>T (p.Ser876Phe)
n.15657C>T
c.15641C>T (p.Ser5214Phe)
c.15563C>T (p.Ser5188Phe)
c.12947C>T (p.Ser4316Phe)
c.15665C>T (p.Ser5222Phe)
c.15662C>T (p.Ser5221Phe)
c.15584C>T (p.Ser5195Phe)
c.15569C>T (p.Ser5190Phe)
c.15485C>T (p.Ser5162Phe)
c.8783C>T (p.Ser2928Phe)
c.8762C>T (p.Ser2921Phe)
n.15660C>T
 COSMIC
5g.90810905C>ACA445467979ADGRV1c.15645C>A (p.Ser5215=)
c.4599C>A (p.Ser1533=)
n.2912C>A
c.265+134696C>A (n.265+134696C>A)
c.2055C>A (p.Ser685=)
c.2628C>A (p.Ser876=)
n.15658C>A
c.15642C>A (p.Ser5214=)
c.15564C>A (p.Ser5188=)
c.12948C>A (p.Ser4316=)
c.15666C>A (p.Ser5222=)
c.15663C>A (p.Ser5221=)
c.15585C>A (p.Ser5195=)
c.15570C>A (p.Ser5190=)
c.15486C>A (p.Ser5162=)
c.8784C>A (p.Ser2928=)
c.8763C>A (p.Ser2921=)
n.15661C>A
5g.90810905C=CA1562908324ADGRV1c.15645C= (p.Ser5215=)
c.4599C= (p.Ser1533=)
n.2912C=
c.265+134696C= (n.265+134696C=)
c.2055C= (p.Ser685=)
c.2628C= (p.Ser876=)
n.15658C=
c.15642C= (p.Ser5214=)
c.15564C= (p.Ser5188=)
c.12948C= (p.Ser4316=)
c.15666C= (p.Ser5222=)
c.15663C= (p.Ser5221=)
c.15585C= (p.Ser5195=)
c.15570C= (p.Ser5190=)
c.15486C= (p.Ser5162=)
c.8784C= (p.Ser2928=)
c.8763C= (p.Ser2921=)
n.15661C=
5g.90810905C>GCA445467980ADGRV1c.15645C>G (p.Ser5215=)
c.4599C>G (p.Ser1533=)
n.2912C>G
c.265+134696C>G (n.265+134696C>G)
c.2055C>G (p.Ser685=)
c.2628C>G (p.Ser876=)
n.15658C>G
c.15642C>G (p.Ser5214=)
c.15564C>G (p.Ser5188=)
c.12948C>G (p.Ser4316=)
c.15666C>G (p.Ser5222=)
c.15663C>G (p.Ser5221=)
c.15585C>G (p.Ser5195=)
c.15570C>G (p.Ser5190=)
c.15486C>G (p.Ser5162=)
c.8784C>G (p.Ser2928=)
c.8763C>G (p.Ser2921=)
n.15661C>G
5g.90810905C>TCA3341957ADGRV1c.15645C>T (p.Ser5215=)
c.4599C>T (p.Ser1533=)
n.2912C>T
c.265+134696C>T (n.265+134696C>T)
c.2055C>T (p.Ser685=)
c.2628C>T (p.Ser876=)
n.15658C>T
c.15642C>T (p.Ser5214=)
c.15564C>T (p.Ser5188=)
c.12948C>T (p.Ser4316=)
c.15666C>T (p.Ser5222=)
c.15663C>T (p.Ser5221=)
c.15585C>T (p.Ser5195=)
c.15570C>T (p.Ser5190=)
c.15486C>T (p.Ser5162=)
c.8784C>T (p.Ser2928=)
c.8763C>T (p.Ser2921=)
n.15661C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90810906A>CCA360410373ADGRV1c.15646A>C (p.Ile5216Leu)
c.4600A>C (p.Ile1534Leu)
n.2913A>C
c.265+134697A>C (n.265+134697A>C)
c.2056A>C (p.Ile686Leu)
c.2629A>C (p.Ile877Leu)
n.15659A>C
c.15643A>C (p.Ile5215Leu)
c.15565A>C (p.Ile5189Leu)
c.12949A>C (p.Ile4317Leu)
c.15667A>C (p.Ile5223Leu)
c.15664A>C (p.Ile5222Leu)
c.15586A>C (p.Ile5196Leu)
c.15571A>C (p.Ile5191Leu)
c.15487A>C (p.Ile5163Leu)
c.8785A>C (p.Ile2929Leu)
c.8764A>C (p.Ile2922Leu)
n.15662A>C
5g.90810906A>GCA360410374ADGRV1c.15646A>G (p.Ile5216Val)
c.4600A>G (p.Ile1534Val)
n.2913A>G
c.265+134697A>G (n.265+134697A>G)
c.2056A>G (p.Ile686Val)
c.2629A>G (p.Ile877Val)
n.15659A>G
c.15643A>G (p.Ile5215Val)
c.15565A>G (p.Ile5189Val)
c.12949A>G (p.Ile4317Val)
c.15667A>G (p.Ile5223Val)
c.15664A>G (p.Ile5222Val)
c.15586A>G (p.Ile5196Val)
c.15571A>G (p.Ile5191Val)
c.15487A>G (p.Ile5163Val)
c.8785A>G (p.Ile2929Val)
c.8764A>G (p.Ile2922Val)
n.15662A>G
5g.90810906A>TCA360410376ADGRV1c.15646A>T (p.Ile5216Phe)
c.4600A>T (p.Ile1534Phe)
n.2913A>T
c.265+134697A>T (n.265+134697A>T)
c.2056A>T (p.Ile686Phe)
c.2629A>T (p.Ile877Phe)
n.15659A>T
c.15643A>T (p.Ile5215Phe)
c.15565A>T (p.Ile5189Phe)
c.12949A>T (p.Ile4317Phe)
c.15667A>T (p.Ile5223Phe)
c.15664A>T (p.Ile5222Phe)
c.15586A>T (p.Ile5196Phe)
c.15571A>T (p.Ile5191Phe)
c.15487A>T (p.Ile5163Phe)
c.8785A>T (p.Ile2929Phe)
c.8764A>T (p.Ile2922Phe)
n.15662A>T
5g.90810907T>ACA360410378ADGRV1c.15647T>A (p.Ile5216Asn)
c.4601T>A (p.Ile1534Asn)
n.2914T>A
c.265+134698T>A (n.265+134698T>A)
c.2057T>A (p.Ile686Asn)
c.2630T>A (p.Ile877Asn)
n.15660T>A
c.15644T>A (p.Ile5215Asn)
c.15566T>A (p.Ile5189Asn)
c.12950T>A (p.Ile4317Asn)
c.15668T>A (p.Ile5223Asn)
c.15665T>A (p.Ile5222Asn)
c.15587T>A (p.Ile5196Asn)
c.15572T>A (p.Ile5191Asn)
c.15488T>A (p.Ile5163Asn)
c.8786T>A (p.Ile2929Asn)
c.8765T>A (p.Ile2922Asn)
n.15663T>A
5g.90810907T>CCA360410381ADGRV1c.15647T>C (p.Ile5216Thr)
c.4601T>C (p.Ile1534Thr)
n.2914T>C
c.265+134698T>C (n.265+134698T>C)
c.2057T>C (p.Ile686Thr)
c.2630T>C (p.Ile877Thr)
n.15660T>C
c.15644T>C (p.Ile5215Thr)
c.15566T>C (p.Ile5189Thr)
c.12950T>C (p.Ile4317Thr)
c.15668T>C (p.Ile5223Thr)
c.15665T>C (p.Ile5222Thr)
c.15587T>C (p.Ile5196Thr)
c.15572T>C (p.Ile5191Thr)
c.15488T>C (p.Ile5163Thr)
c.8786T>C (p.Ile2929Thr)
c.8765T>C (p.Ile2922Thr)
n.15663T>C
5g.90810907T>GCA360410380ADGRV1c.15647T>G (p.Ile5216Ser)
c.4601T>G (p.Ile1534Ser)
n.2914T>G
c.265+134698T>G (n.265+134698T>G)
c.2057T>G (p.Ile686Ser)
c.2630T>G (p.Ile877Ser)
n.15660T>G
c.15644T>G (p.Ile5215Ser)
c.15566T>G (p.Ile5189Ser)
c.12950T>G (p.Ile4317Ser)
c.15668T>G (p.Ile5223Ser)
c.15665T>G (p.Ile5222Ser)
c.15587T>G (p.Ile5196Ser)
c.15572T>G (p.Ile5191Ser)
c.15488T>G (p.Ile5163Ser)
c.8786T>G (p.Ile2929Ser)
c.8765T>G (p.Ile2922Ser)
n.15663T>G
5g.90810908T>ACA445467991ADGRV1c.15648T>A (p.Ile5216=)
c.4602T>A (p.Ile1534=)
n.2915T>A
c.265+134699T>A (n.265+134699T>A)
c.2058T>A (p.Ile686=)
c.2631T>A (p.Ile877=)
n.15661T>A
c.15645T>A (p.Ile5215=)
c.15567T>A (p.Ile5189=)
c.12951T>A (p.Ile4317=)
c.15669T>A (p.Ile5223=)
c.15666T>A (p.Ile5222=)
c.15588T>A (p.Ile5196=)
c.15573T>A (p.Ile5191=)
c.15489T>A (p.Ile5163=)
c.8787T>A (p.Ile2929=)
c.8766T>A (p.Ile2922=)
n.15664T>A
5g.90810908T>CCA445467994ADGRV1c.15648T>C (p.Ile5216=)
c.4602T>C (p.Ile1534=)
n.2915T>C
c.265+134699T>C (n.265+134699T>C)
c.2058T>C (p.Ile686=)
c.2631T>C (p.Ile877=)
n.15661T>C
c.15645T>C (p.Ile5215=)
c.15567T>C (p.Ile5189=)
c.12951T>C (p.Ile4317=)
c.15669T>C (p.Ile5223=)
c.15666T>C (p.Ile5222=)
c.15588T>C (p.Ile5196=)
c.15573T>C (p.Ile5191=)
c.15489T>C (p.Ile5163=)
c.8787T>C (p.Ile2929=)
c.8766T>C (p.Ile2922=)
n.15664T>C
5g.90810908T>GCA360410382ADGRV1c.15648T>G (p.Ile5216Met)
c.4602T>G (p.Ile1534Met)
n.2915T>G
c.265+134699T>G (n.265+134699T>G)
c.2058T>G (p.Ile686Met)
c.2631T>G (p.Ile877Met)
n.15661T>G
c.15645T>G (p.Ile5215Met)
c.15567T>G (p.Ile5189Met)
c.12951T>G (p.Ile4317Met)
c.15669T>G (p.Ile5223Met)
c.15666T>G (p.Ile5222Met)
c.15588T>G (p.Ile5196Met)
c.15573T>G (p.Ile5191Met)
c.15489T>G (p.Ile5163Met)
c.8787T>G (p.Ile2929Met)
c.8766T>G (p.Ile2922Met)
n.15664T>G
 dbSNP gnomAD v2 gnomAD v4
5g.90810908T=CA1562908325ADGRV1c.15648T= (p.Ile5216=)
c.4602T= (p.Ile1534=)
n.2915T=
c.265+134699T= (n.265+134699T=)
c.2058T= (p.Ile686=)
c.2631T= (p.Ile877=)
n.15661T=
c.15645T= (p.Ile5215=)
c.15567T= (p.Ile5189=)
c.12951T= (p.Ile4317=)
c.15669T= (p.Ile5223=)
c.15666T= (p.Ile5222=)
c.15588T= (p.Ile5196=)
c.15573T= (p.Ile5191=)
c.15489T= (p.Ile5163=)
c.8787T= (p.Ile2929=)
c.8766T= (p.Ile2922=)
n.15664T=
5g.90810909C>ACA360410384ADGRV1c.15649C>A (p.His5217Asn)
c.4603C>A (p.His1535Asn)
n.2916C>A
c.265+134700C>A (n.265+134700C>A)
c.2059C>A (p.His687Asn)
c.2632C>A (p.His878Asn)
n.15662C>A
c.15646C>A (p.His5216Asn)
c.15568C>A (p.His5190Asn)
c.12952C>A (p.His4318Asn)
c.15670C>A (p.His5224Asn)
c.15667C>A (p.His5223Asn)
c.15589C>A (p.His5197Asn)
c.15574C>A (p.His5192Asn)
c.15490C>A (p.His5164Asn)
c.8788C>A (p.His2930Asn)
c.8767C>A (p.His2923Asn)
n.15665C>A
 COSMIC
5g.90810909C>GCA360410385ADGRV1c.15649C>G (p.His5217Asp)
c.4603C>G (p.His1535Asp)
n.2916C>G
c.265+134700C>G (n.265+134700C>G)
c.2059C>G (p.His687Asp)
c.2632C>G (p.His878Asp)
n.15662C>G
c.15646C>G (p.His5216Asp)
c.15568C>G (p.His5190Asp)
c.12952C>G (p.His4318Asp)
c.15670C>G (p.His5224Asp)
c.15667C>G (p.His5223Asp)
c.15589C>G (p.His5197Asp)
c.15574C>G (p.His5192Asp)
c.15490C>G (p.His5164Asp)
c.8788C>G (p.His2930Asp)
c.8767C>G (p.His2923Asp)
n.15665C>G
5g.90810909C>TCA360410388ADGRV1c.15649C>T (p.His5217Tyr)
c.4603C>T (p.His1535Tyr)
n.2916C>T
c.265+134700C>T (n.265+134700C>T)
c.2059C>T (p.His687Tyr)
c.2632C>T (p.His878Tyr)
n.15662C>T
c.15646C>T (p.His5216Tyr)
c.15568C>T (p.His5190Tyr)
c.12952C>T (p.His4318Tyr)
c.15670C>T (p.His5224Tyr)
c.15667C>T (p.His5223Tyr)
c.15589C>T (p.His5197Tyr)
c.15574C>T (p.His5192Tyr)
c.15490C>T (p.His5164Tyr)
c.8788C>T (p.His2930Tyr)
c.8767C>T (p.His2923Tyr)
n.15665C>T
 gnomAD v4
5g.90810910A=CA1562908327ADGRV1c.15650A= (p.His5217=)
c.4604A= (p.His1535=)
n.2917A=
c.265+134701A= (n.265+134701A=)
c.2060A= (p.His687=)
c.2633A= (p.His878=)
n.15663A=
c.15647A= (p.His5216=)
c.15569A= (p.His5190=)
c.12953A= (p.His4318=)
c.15671A= (p.His5224=)
c.15668A= (p.His5223=)
c.15590A= (p.His5197=)
c.15575A= (p.His5192=)
c.15491A= (p.His5164=)
c.8789A= (p.His2930=)
c.8768A= (p.His2923=)
n.15666A=

Number of alleles fetched