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 |
|---|---|---|---|---|---|
| 5 | g.90745065C>A | CA445415700 | ADGRV1 | c.10569C>A (p.Gly3523=) c.265+68856C>A (n.265+68856C>A) n.3713C>A n.988C>A c.3266C>A n.10582C>A c.10566C>A (p.Gly3522=) c.10488C>A (p.Gly3496=) c.7872C>A (p.Gly2624=) c.10590C>A (p.Gly3530=) c.10587C>A (p.Gly3529=) c.10509C>A (p.Gly3503=) c.10494C>A (p.Gly3498=) c.3708C>A (p.Gly1236=) c.3687C>A (p.Gly1229=) n.10585C>A | |
| 5 | g.90745065C>G | CA445415702 | ADGRV1 | c.10569C>G (p.Gly3523=) c.265+68856C>G (n.265+68856C>G) n.3713C>G n.988C>G c.3266C>G n.10582C>G c.10566C>G (p.Gly3522=) c.10488C>G (p.Gly3496=) c.7872C>G (p.Gly2624=) c.10590C>G (p.Gly3530=) c.10587C>G (p.Gly3529=) c.10509C>G (p.Gly3503=) c.10494C>G (p.Gly3498=) c.3708C>G (p.Gly1236=) c.3687C>G (p.Gly1229=) n.10585C>G | |
| 5 | g.90745065C>T | CA445415701 | ADGRV1 | c.10569C>T (p.Gly3523=) c.265+68856C>T (n.265+68856C>T) n.3713C>T n.988C>T c.3266C>T n.10582C>T c.10566C>T (p.Gly3522=) c.10488C>T (p.Gly3496=) c.7872C>T (p.Gly2624=) c.10590C>T (p.Gly3530=) c.10587C>T (p.Gly3529=) c.10509C>T (p.Gly3503=) c.10494C>T (p.Gly3498=) c.3708C>T (p.Gly1236=) c.3687C>T (p.Gly1229=) n.10585C>T | |
| 5 | g.90745066C>A | CA3340789 | ADGRV1 | c.10570C>A (p.Gln3524Lys) c.265+68857C>A (n.265+68857C>A) n.3714C>A n.989C>A c.3267C>A n.10583C>A c.10567C>A (p.Gln3523Lys) c.10489C>A (p.Gln3497Lys) c.7873C>A (p.Gln2625Lys) c.10591C>A (p.Gln3531Lys) c.10588C>A (p.Gln3530Lys) c.10510C>A (p.Gln3504Lys) c.10495C>A (p.Gln3499Lys) c.3709C>A (p.Gln1237Lys) c.3688C>A (p.Gln1230Lys) n.10586C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90745066C= | CA1562881832 | ADGRV1 | c.10570C= (p.Gln3524=) c.265+68857C= (n.265+68857C=) n.3714C= n.989C= c.3267C= n.10583C= c.10567C= (p.Gln3523=) c.10489C= (p.Gln3497=) c.7873C= (p.Gln2625=) c.10591C= (p.Gln3531=) c.10588C= (p.Gln3530=) c.10510C= (p.Gln3504=) c.10495C= (p.Gln3499=) c.3709C= (p.Gln1237=) c.3688C= (p.Gln1230=) n.10586C= | |
| 5 | g.90745066C>G | CA360407500 | ADGRV1 | c.10570C>G (p.Gln3524Glu) c.265+68857C>G (n.265+68857C>G) n.3714C>G n.989C>G c.3267C>G n.10583C>G c.10567C>G (p.Gln3523Glu) c.10489C>G (p.Gln3497Glu) c.7873C>G (p.Gln2625Glu) c.10591C>G (p.Gln3531Glu) c.10588C>G (p.Gln3530Glu) c.10510C>G (p.Gln3504Glu) c.10495C>G (p.Gln3499Glu) c.3709C>G (p.Gln1237Glu) c.3688C>G (p.Gln1230Glu) n.10586C>G | |
| 5 | g.90745066C>T | CA360407497 | ADGRV1 | c.10570C>T (p.Gln3524Ter) c.265+68857C>T (n.265+68857C>T) n.3714C>T n.989C>T c.3267C>T n.10583C>T c.10567C>T (p.Gln3523Ter) c.10489C>T (p.Gln3497Ter) c.7873C>T (p.Gln2625Ter) c.10591C>T (p.Gln3531Ter) c.10588C>T (p.Gln3530Ter) c.10510C>T (p.Gln3504Ter) c.10495C>T (p.Gln3499Ter) c.3709C>T (p.Gln1237Ter) c.3688C>T (p.Gln1230Ter) n.10586C>T | ClinVar |
| 5 | g.90745067A= | CA1562881833 | ADGRV1 | c.10571A= (p.Gln3524=) c.265+68858A= (n.265+68858A=) n.3715A= n.990A= c.3268A= n.10584A= c.10568A= (p.Gln3523=) c.10490A= (p.Gln3497=) c.7874A= (p.Gln2625=) c.10592A= (p.Gln3531=) c.10589A= (p.Gln3530=) c.10511A= (p.Gln3504=) c.10496A= (p.Gln3499=) c.3710A= (p.Gln1237=) c.3689A= (p.Gln1230=) n.10587A= | |
| 5 | g.90745067A>C | CA360407507 | ADGRV1 | c.10571A>C (p.Gln3524Pro) c.265+68858A>C (n.265+68858A>C) n.3715A>C n.990A>C c.3268A>C n.10584A>C c.10568A>C (p.Gln3523Pro) c.10490A>C (p.Gln3497Pro) c.7874A>C (p.Gln2625Pro) c.10592A>C (p.Gln3531Pro) c.10589A>C (p.Gln3530Pro) c.10511A>C (p.Gln3504Pro) c.10496A>C (p.Gln3499Pro) c.3710A>C (p.Gln1237Pro) c.3689A>C (p.Gln1230Pro) n.10587A>C | |
| 5 | g.90745067A>G | CA360407509 | ADGRV1 | c.10571A>G (p.Gln3524Arg) c.265+68858A>G (n.265+68858A>G) n.3715A>G n.990A>G c.3268A>G n.10584A>G c.10568A>G (p.Gln3523Arg) c.10490A>G (p.Gln3497Arg) c.7874A>G (p.Gln2625Arg) c.10592A>G (p.Gln3531Arg) c.10589A>G (p.Gln3530Arg) c.10511A>G (p.Gln3504Arg) c.10496A>G (p.Gln3499Arg) c.3710A>G (p.Gln1237Arg) c.3689A>G (p.Gln1230Arg) n.10587A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90745067A>T | CA360407510 | ADGRV1 | c.10571A>T (p.Gln3524Leu) c.265+68858A>T (n.265+68858A>T) n.3715A>T n.990A>T c.3268A>T n.10584A>T c.10568A>T (p.Gln3523Leu) c.10490A>T (p.Gln3497Leu) c.7874A>T (p.Gln2625Leu) c.10592A>T (p.Gln3531Leu) c.10589A>T (p.Gln3530Leu) c.10511A>T (p.Gln3504Leu) c.10496A>T (p.Gln3499Leu) c.3710A>T (p.Gln1237Leu) c.3689A>T (p.Gln1230Leu) n.10587A>T | |
| 5 | g.90745068A>C | CA360407512 | ADGRV1 | c.10572A>C (p.Gln3524His) c.265+68859A>C (n.265+68859A>C) n.3716A>C n.991A>C c.3269A>C n.10585A>C c.10569A>C (p.Gln3523His) c.10491A>C (p.Gln3497His) c.7875A>C (p.Gln2625His) c.10593A>C (p.Gln3531His) c.10590A>C (p.Gln3530His) c.10512A>C (p.Gln3504His) c.10497A>C (p.Gln3499His) c.3711A>C (p.Gln1237His) c.3690A>C (p.Gln1230His) n.10588A>C | |
| 5 | g.90745068A>G | CA445415705 | ADGRV1 | c.10572A>G (p.Gln3524=) c.265+68859A>G (n.265+68859A>G) n.3716A>G n.991A>G c.3269A>G n.10585A>G c.10569A>G (p.Gln3523=) c.10491A>G (p.Gln3497=) c.7875A>G (p.Gln2625=) c.10593A>G (p.Gln3531=) c.10590A>G (p.Gln3530=) c.10512A>G (p.Gln3504=) c.10497A>G (p.Gln3499=) c.3711A>G (p.Gln1237=) c.3690A>G (p.Gln1230=) n.10588A>G | gnomAD v4 |
| 5 | g.90745068A>T | CA360407515 | ADGRV1 | c.10572A>T (p.Gln3524His) c.265+68859A>T (n.265+68859A>T) n.3716A>T n.991A>T c.3269A>T n.10585A>T c.10569A>T (p.Gln3523His) c.10491A>T (p.Gln3497His) c.7875A>T (p.Gln2625His) c.10593A>T (p.Gln3531His) c.10590A>T (p.Gln3530His) c.10512A>T (p.Gln3504His) c.10497A>T (p.Gln3499His) c.3711A>T (p.Gln1237His) c.3690A>T (p.Gln1230His) n.10588A>T | |
| 5 | g.90745069G>A | CA360407520 | ADGRV1 | c.10573G>A (p.Asp3525Asn) c.265+68860G>A (n.265+68860G>A) n.3717G>A n.992G>A c.3270G>A n.10586G>A c.10570G>A (p.Asp3524Asn) c.10492G>A (p.Asp3498Asn) c.7876G>A (p.Asp2626Asn) c.10594G>A (p.Asp3532Asn) c.10591G>A (p.Asp3531Asn) c.10513G>A (p.Asp3505Asn) c.10498G>A (p.Asp3500Asn) c.3712G>A (p.Asp1238Asn) c.3691G>A (p.Asp1231Asn) n.10589G>A | |
| 5 | g.90745069G>C | CA360407522 | ADGRV1 | c.10573G>C (p.Asp3525His) c.265+68860G>C (n.265+68860G>C) n.3717G>C n.992G>C c.3270G>C n.10586G>C c.10570G>C (p.Asp3524His) c.10492G>C (p.Asp3498His) c.7876G>C (p.Asp2626His) c.10594G>C (p.Asp3532His) c.10591G>C (p.Asp3531His) c.10513G>C (p.Asp3505His) c.10498G>C (p.Asp3500His) c.3712G>C (p.Asp1238His) c.3691G>C (p.Asp1231His) n.10589G>C | |
| 5 | g.90745069G>T | CA360407526 | ADGRV1 | c.10573G>T (p.Asp3525Tyr) c.265+68860G>T (n.265+68860G>T) n.3717G>T n.992G>T c.3270G>T n.10586G>T c.10570G>T (p.Asp3524Tyr) c.10492G>T (p.Asp3498Tyr) c.7876G>T (p.Asp2626Tyr) c.10594G>T (p.Asp3532Tyr) c.10591G>T (p.Asp3531Tyr) c.10513G>T (p.Asp3505Tyr) c.10498G>T (p.Asp3500Tyr) c.3712G>T (p.Asp1238Tyr) c.3691G>T (p.Asp1231Tyr) n.10589G>T | |
| 5 | g.90745070A= | CA1562881834 | ADGRV1 | c.10574A= (p.Asp3525=) c.265+68861A= (n.265+68861A=) n.3718A= n.993A= c.3271A= n.10587A= c.10571A= (p.Asp3524=) c.10493A= (p.Asp3498=) c.7877A= (p.Asp2626=) c.10595A= (p.Asp3532=) c.10592A= (p.Asp3531=) c.10514A= (p.Asp3505=) c.10499A= (p.Asp3500=) c.3713A= (p.Asp1238=) c.3692A= (p.Asp1231=) n.10590A= | |
| 5 | g.90745070A>C | CA360407529 | ADGRV1 | c.10574A>C (p.Asp3525Ala) c.265+68861A>C (n.265+68861A>C) n.3718A>C n.993A>C c.3271A>C n.10587A>C c.10571A>C (p.Asp3524Ala) c.10493A>C (p.Asp3498Ala) c.7877A>C (p.Asp2626Ala) c.10595A>C (p.Asp3532Ala) c.10592A>C (p.Asp3531Ala) c.10514A>C (p.Asp3505Ala) c.10499A>C (p.Asp3500Ala) c.3713A>C (p.Asp1238Ala) c.3692A>C (p.Asp1231Ala) n.10590A>C | |
| 5 | g.90745070A>G | CA360407530 | ADGRV1 | c.10574A>G (p.Asp3525Gly) c.265+68861A>G (n.265+68861A>G) n.3718A>G n.993A>G c.3271A>G n.10587A>G c.10571A>G (p.Asp3524Gly) c.10493A>G (p.Asp3498Gly) c.7877A>G (p.Asp2626Gly) c.10595A>G (p.Asp3532Gly) c.10592A>G (p.Asp3531Gly) c.10514A>G (p.Asp3505Gly) c.10499A>G (p.Asp3500Gly) c.3713A>G (p.Asp1238Gly) c.3692A>G (p.Asp1231Gly) n.10590A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.90745070A>T | CA360407531 | ADGRV1 | c.10574A>T (p.Asp3525Val) c.265+68861A>T (n.265+68861A>T) n.3718A>T n.993A>T c.3271A>T n.10587A>T c.10571A>T (p.Asp3524Val) c.10493A>T (p.Asp3498Val) c.7877A>T (p.Asp2626Val) c.10595A>T (p.Asp3532Val) c.10592A>T (p.Asp3531Val) c.10514A>T (p.Asp3505Val) c.10499A>T (p.Asp3500Val) c.3713A>T (p.Asp1238Val) c.3692A>T (p.Asp1231Val) n.10590A>T | |
| 5 | g.90745071T>A | CA360407532 | ADGRV1 | c.10575T>A (p.Asp3525Glu) c.265+68862T>A (n.265+68862T>A) n.3719T>A n.994T>A c.3272T>A n.10588T>A c.10572T>A (p.Asp3524Glu) c.10494T>A (p.Asp3498Glu) c.7878T>A (p.Asp2626Glu) c.10596T>A (p.Asp3532Glu) c.10593T>A (p.Asp3531Glu) c.10515T>A (p.Asp3505Glu) c.10500T>A (p.Asp3500Glu) c.3714T>A (p.Asp1238Glu) c.3693T>A (p.Asp1231Glu) n.10591T>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.90745071T>C | CA445415714 | ADGRV1 | c.10575T>C (p.Asp3525=) c.265+68862T>C (n.265+68862T>C) n.3719T>C n.994T>C c.3272T>C n.10588T>C c.10572T>C (p.Asp3524=) c.10494T>C (p.Asp3498=) c.7878T>C (p.Asp2626=) c.10596T>C (p.Asp3532=) c.10593T>C (p.Asp3531=) c.10515T>C (p.Asp3505=) c.10500T>C (p.Asp3500=) c.3714T>C (p.Asp1238=) c.3693T>C (p.Asp1231=) n.10591T>C | |
| 5 | g.90745071T>G | CA360407533 | ADGRV1 | c.10575T>G (p.Asp3525Glu) c.265+68862T>G (n.265+68862T>G) n.3719T>G n.994T>G c.3272T>G n.10588T>G c.10572T>G (p.Asp3524Glu) c.10494T>G (p.Asp3498Glu) c.7878T>G (p.Asp2626Glu) c.10596T>G (p.Asp3532Glu) c.10593T>G (p.Asp3531Glu) c.10515T>G (p.Asp3505Glu) c.10500T>G (p.Asp3500Glu) c.3714T>G (p.Asp1238Glu) c.3693T>G (p.Asp1231Glu) n.10591T>G | |
| 5 | g.90745071T= | CA1562881835 | ADGRV1 | c.10575T= (p.Asp3525=) c.265+68862T= (n.265+68862T=) n.3719T= n.994T= c.3272T= n.10588T= c.10572T= (p.Asp3524=) c.10494T= (p.Asp3498=) c.7878T= (p.Asp2626=) c.10596T= (p.Asp3532=) c.10593T= (p.Asp3531=) c.10515T= (p.Asp3505=) c.10500T= (p.Asp3500=) c.3714T= (p.Asp1238=) c.3693T= (p.Asp1231=) n.10591T= | |
| 5 | g.90745072A>C | CA360407541 | ADGRV1 | c.10576A>C (p.Met3526Leu) c.265+68863A>C (n.265+68863A>C) n.3720A>C n.995A>C c.3273A>C n.10589A>C c.10573A>C (p.Met3525Leu) c.10495A>C (p.Met3499Leu) c.7879A>C (p.Met2627Leu) c.10597A>C (p.Met3533Leu) c.10594A>C (p.Met3532Leu) c.10516A>C (p.Met3506Leu) c.10501A>C (p.Met3501Leu) c.3715A>C (p.Met1239Leu) c.3694A>C (p.Met1232Leu) n.10592A>C | |
| 5 | g.90745072A>G | CA360407535 | ADGRV1 | c.10576A>G (p.Met3526Val) c.265+68863A>G (n.265+68863A>G) n.3720A>G n.995A>G c.3273A>G n.10589A>G c.10573A>G (p.Met3525Val) c.10495A>G (p.Met3499Val) c.7879A>G (p.Met2627Val) c.10597A>G (p.Met3533Val) c.10594A>G (p.Met3532Val) c.10516A>G (p.Met3506Val) c.10501A>G (p.Met3501Val) c.3715A>G (p.Met1239Val) c.3694A>G (p.Met1232Val) n.10592A>G | gnomAD v4 |
| 5 | g.90745072A>T | CA360407538 | ADGRV1 | c.10576A>T (p.Met3526Leu) c.265+68863A>T (n.265+68863A>T) n.3720A>T n.995A>T c.3273A>T n.10589A>T c.10573A>T (p.Met3525Leu) c.10495A>T (p.Met3499Leu) c.7879A>T (p.Met2627Leu) c.10597A>T (p.Met3533Leu) c.10594A>T (p.Met3532Leu) c.10516A>T (p.Met3506Leu) c.10501A>T (p.Met3501Leu) c.3715A>T (p.Met1239Leu) c.3694A>T (p.Met1232Leu) n.10592A>T | |
| 5 | g.90745073T>A | CA360407544 | ADGRV1 | c.10577T>A (p.Met3526Lys) c.265+68864T>A (n.265+68864T>A) n.3721T>A n.996T>A c.3274T>A n.10590T>A c.10574T>A (p.Met3525Lys) c.10496T>A (p.Met3499Lys) c.7880T>A (p.Met2627Lys) c.10598T>A (p.Met3533Lys) c.10595T>A (p.Met3532Lys) c.10517T>A (p.Met3506Lys) c.10502T>A (p.Met3501Lys) c.3716T>A (p.Met1239Lys) c.3695T>A (p.Met1232Lys) n.10593T>A | gnomAD v4 |
| 5 | g.90745073T>C | CA137993 | ADGRV1 | c.10577T>C (p.Met3526Thr) c.265+68864T>C (n.265+68864T>C) n.3721T>C n.996T>C c.3274T>C n.10590T>C c.10574T>C (p.Met3525Thr) c.10496T>C (p.Met3499Thr) c.7880T>C (p.Met2627Thr) c.10598T>C (p.Met3533Thr) c.10595T>C (p.Met3532Thr) c.10517T>C (p.Met3506Thr) c.10502T>C (p.Met3501Thr) c.3716T>C (p.Met1239Thr) c.3695T>C (p.Met1232Thr) n.10593T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90745073T>G | CA360407561 | ADGRV1 | c.10577T>G (p.Met3526Arg) c.265+68864T>G (n.265+68864T>G) n.3721T>G n.996T>G c.3274T>G n.10590T>G c.10574T>G (p.Met3525Arg) c.10496T>G (p.Met3499Arg) c.7880T>G (p.Met2627Arg) c.10598T>G (p.Met3533Arg) c.10595T>G (p.Met3532Arg) c.10517T>G (p.Met3506Arg) c.10502T>G (p.Met3501Arg) c.3716T>G (p.Met1239Arg) c.3695T>G (p.Met1232Arg) n.10593T>G | gnomAD v4 |
| 5 | g.90745073T= | CA1562881836 | ADGRV1 | c.10577T= (p.Met3526=) c.265+68864T= (n.265+68864T=) n.3721T= n.996T= c.3274T= n.10590T= c.10574T= (p.Met3525=) c.10496T= (p.Met3499=) c.7880T= (p.Met2627=) c.10598T= (p.Met3533=) c.10595T= (p.Met3532=) c.10517T= (p.Met3506=) c.10502T= (p.Met3501=) c.3716T= (p.Met1239=) c.3695T= (p.Met1232=) n.10593T= | |
| 5 | g.90745074G>A | CA360407564 | ADGRV1 | c.10578G>A (p.Met3526Ile) c.265+68865G>A (n.265+68865G>A) n.3722G>A n.997G>A c.3275G>A n.10591G>A c.10575G>A (p.Met3525Ile) c.10497G>A (p.Met3499Ile) c.7881G>A (p.Met2627Ile) c.10599G>A (p.Met3533Ile) c.10596G>A (p.Met3532Ile) c.10518G>A (p.Met3506Ile) c.10503G>A (p.Met3501Ile) c.3717G>A (p.Met1239Ile) c.3696G>A (p.Met1232Ile) n.10594G>A | |
| 5 | g.90745074G>C | CA360407567 | ADGRV1 | c.10578G>C (p.Met3526Ile) c.265+68865G>C (n.265+68865G>C) n.3722G>C n.997G>C c.3275G>C n.10591G>C c.10575G>C (p.Met3525Ile) c.10497G>C (p.Met3499Ile) c.7881G>C (p.Met2627Ile) c.10599G>C (p.Met3533Ile) c.10596G>C (p.Met3532Ile) c.10518G>C (p.Met3506Ile) c.10503G>C (p.Met3501Ile) c.3717G>C (p.Met1239Ile) c.3696G>C (p.Met1232Ile) n.10594G>C | |
| 5 | g.90745074G>T | CA360407569 | ADGRV1 | c.10578G>T (p.Met3526Ile) c.265+68865G>T (n.265+68865G>T) n.3722G>T n.997G>T c.3275G>T n.10591G>T c.10575G>T (p.Met3525Ile) c.10497G>T (p.Met3499Ile) c.7881G>T (p.Met2627Ile) c.10599G>T (p.Met3533Ile) c.10596G>T (p.Met3532Ile) c.10518G>T (p.Met3506Ile) c.10503G>T (p.Met3501Ile) c.3717G>T (p.Met1239Ile) c.3696G>T (p.Met1232Ile) n.10594G>T | |
| 5 | g.90745075T>A | CA360407574 | ADGRV1 | c.10579T>A (p.Ser3527Thr) c.265+68866T>A (n.265+68866T>A) n.3723T>A n.998T>A c.3276T>A n.10592T>A c.10576T>A (p.Ser3526Thr) c.10498T>A (p.Ser3500Thr) c.7882T>A (p.Ser2628Thr) c.10600T>A (p.Ser3534Thr) c.10597T>A (p.Ser3533Thr) c.10519T>A (p.Ser3507Thr) c.10504T>A (p.Ser3502Thr) c.3718T>A (p.Ser1240Thr) c.3697T>A (p.Ser1233Thr) n.10595T>A | |
| 5 | g.90745075T>C | CA3340790 | ADGRV1 | c.10579T>C (p.Ser3527Pro) c.265+68866T>C (n.265+68866T>C) n.3723T>C n.998T>C c.3276T>C n.10592T>C c.10576T>C (p.Ser3526Pro) c.10498T>C (p.Ser3500Pro) c.7882T>C (p.Ser2628Pro) c.10600T>C (p.Ser3534Pro) c.10597T>C (p.Ser3533Pro) c.10519T>C (p.Ser3507Pro) c.10504T>C (p.Ser3502Pro) c.3718T>C (p.Ser1240Pro) c.3697T>C (p.Ser1233Pro) n.10595T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.90745075T>G | CA360407579 | ADGRV1 | c.10579T>G (p.Ser3527Ala) c.265+68866T>G (n.265+68866T>G) n.3723T>G n.998T>G c.3276T>G n.10592T>G c.10576T>G (p.Ser3526Ala) c.10498T>G (p.Ser3500Ala) c.7882T>G (p.Ser2628Ala) c.10600T>G (p.Ser3534Ala) c.10597T>G (p.Ser3533Ala) c.10519T>G (p.Ser3507Ala) c.10504T>G (p.Ser3502Ala) c.3718T>G (p.Ser1240Ala) c.3697T>G (p.Ser1233Ala) n.10595T>G | |
| 5 | g.90745075T= | CA1562881837 | ADGRV1 | c.10579T= (p.Ser3527=) c.265+68866T= (n.265+68866T=) n.3723T= n.998T= c.3276T= n.10592T= c.10576T= (p.Ser3526=) c.10498T= (p.Ser3500=) c.7882T= (p.Ser2628=) c.10600T= (p.Ser3534=) c.10597T= (p.Ser3533=) c.10519T= (p.Ser3507=) c.10504T= (p.Ser3502=) c.3718T= (p.Ser1240=) c.3697T= (p.Ser1233=) n.10595T= | |
| 5 | g.90745076C>A | CA360407582 | ADGRV1 | c.10580C>A (p.Ser3527Tyr) c.265+68867C>A (n.265+68867C>A) n.3724C>A n.999C>A c.3277C>A n.10593C>A c.10577C>A (p.Ser3526Tyr) c.10499C>A (p.Ser3500Tyr) c.7883C>A (p.Ser2628Tyr) c.10601C>A (p.Ser3534Tyr) c.10598C>A (p.Ser3533Tyr) c.10520C>A (p.Ser3507Tyr) c.10505C>A (p.Ser3502Tyr) c.3719C>A (p.Ser1240Tyr) c.3698C>A (p.Ser1233Tyr) n.10596C>A | gnomAD v4 |
| 5 | g.90745076C= | CA1562881838 | ADGRV1 | c.10580C= (p.Ser3527=) c.265+68867C= (n.265+68867C=) n.3724C= n.999C= c.3277C= n.10593C= c.10577C= (p.Ser3526=) c.10499C= (p.Ser3500=) c.7883C= (p.Ser2628=) c.10601C= (p.Ser3534=) c.10598C= (p.Ser3533=) c.10520C= (p.Ser3507=) c.10505C= (p.Ser3502=) c.3719C= (p.Ser1240=) c.3698C= (p.Ser1233=) n.10596C= | |
| 5 | g.90745076C>G | CA360407585 | ADGRV1 | c.10580C>G (p.Ser3527Cys) c.265+68867C>G (n.265+68867C>G) n.3724C>G n.999C>G c.3277C>G n.10593C>G c.10577C>G (p.Ser3526Cys) c.10499C>G (p.Ser3500Cys) c.7883C>G (p.Ser2628Cys) c.10601C>G (p.Ser3534Cys) c.10598C>G (p.Ser3533Cys) c.10520C>G (p.Ser3507Cys) c.10505C>G (p.Ser3502Cys) c.3719C>G (p.Ser1240Cys) c.3698C>G (p.Ser1233Cys) n.10596C>G | |
| 5 | g.90745076C>T | CA360407586 | ADGRV1 | c.10580C>T (p.Ser3527Phe) c.265+68867C>T (n.265+68867C>T) n.3724C>T n.999C>T c.3277C>T n.10593C>T c.10577C>T (p.Ser3526Phe) c.10499C>T (p.Ser3500Phe) c.7883C>T (p.Ser2628Phe) c.10601C>T (p.Ser3534Phe) c.10598C>T (p.Ser3533Phe) c.10520C>T (p.Ser3507Phe) c.10505C>T (p.Ser3502Phe) c.3719C>T (p.Ser1240Phe) c.3698C>T (p.Ser1233Phe) n.10596C>T | dbSNP |
| 5 | g.90745078_90745080dup | CA2578359304 | ADGRV1 | c.10582_10584dup (p.Ala3528_Leu3529insAla) c.265+68869_265+68871dup (n.265+68869_265+68871dup) n.3726_3728dup n.1001_1003dup c.3279_3281dup n.10595_10597dup c.10579_10581dup (p.Ala3527_Leu3528insAla) c.10501_10503dup (p.Ala3501_Leu3502insAla) c.7885_7887dup (p.Ala2629_Leu2630insAla) c.10603_10605dup (p.Ala3535_Leu3536insAla) c.10600_10602dup (p.Ala3534_Leu3535insAla) c.10522_10524dup (p.Ala3508_Leu3509insAla) c.10507_10509dup (p.Ala3503_Leu3504insAla) c.3721_3723dup (p.Ala1241_Leu1242insAla) c.3700_3702dup (p.Ala1234_Leu1235insAla) n.10598_10600dup | |
| 5 | g.90745077T>A | CA445415722 | ADGRV1 | c.10581T>A (p.Ser3527=) c.265+68868T>A (n.265+68868T>A) n.3725T>A n.1000T>A c.3278T>A n.10594T>A c.10578T>A (p.Ser3526=) c.10500T>A (p.Ser3500=) c.7884T>A (p.Ser2628=) c.10602T>A (p.Ser3534=) c.10599T>A (p.Ser3533=) c.10521T>A (p.Ser3507=) c.10506T>A (p.Ser3502=) c.3720T>A (p.Ser1240=) c.3699T>A (p.Ser1233=) n.10597T>A | |
| 5 | g.90745077T>C | CA3340791 | ADGRV1 | c.10581T>C (p.Ser3527=) c.265+68868T>C (n.265+68868T>C) n.3725T>C n.1000T>C c.3278T>C n.10594T>C c.10578T>C (p.Ser3526=) c.10500T>C (p.Ser3500=) c.7884T>C (p.Ser2628=) c.10602T>C (p.Ser3534=) c.10599T>C (p.Ser3533=) c.10521T>C (p.Ser3507=) c.10506T>C (p.Ser3502=) c.3720T>C (p.Ser1240=) c.3699T>C (p.Ser1233=) n.10597T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90745077T>G | CA445415724 | ADGRV1 | c.10581T>G (p.Ser3527=) c.265+68868T>G (n.265+68868T>G) n.3725T>G n.1000T>G c.3278T>G n.10594T>G c.10578T>G (p.Ser3526=) c.10500T>G (p.Ser3500=) c.7884T>G (p.Ser2628=) c.10602T>G (p.Ser3534=) c.10599T>G (p.Ser3533=) c.10521T>G (p.Ser3507=) c.10506T>G (p.Ser3502=) c.3720T>G (p.Ser1240=) c.3699T>G (p.Ser1233=) n.10597T>G | |
| 5 | g.90745077T= | CA1562881839 | ADGRV1 | c.10581T= (p.Ser3527=) c.265+68868T= (n.265+68868T=) n.3725T= n.1000T= c.3278T= n.10594T= c.10578T= (p.Ser3526=) c.10500T= (p.Ser3500=) c.7884T= (p.Ser2628=) c.10602T= (p.Ser3534=) c.10599T= (p.Ser3533=) c.10521T= (p.Ser3507=) c.10506T= (p.Ser3502=) c.3720T= (p.Ser1240=) c.3699T= (p.Ser1233=) n.10597T= | |
| 5 | g.90745078G>A | CA3340792 | ADGRV1 | c.10582G>A (p.Ala3528Thr) c.265+68869G>A (n.265+68869G>A) n.3726G>A n.1001G>A c.3279G>A n.10595G>A c.10579G>A (p.Ala3527Thr) c.10501G>A (p.Ala3501Thr) c.7885G>A (p.Ala2629Thr) c.10603G>A (p.Ala3535Thr) c.10600G>A (p.Ala3534Thr) c.10522G>A (p.Ala3508Thr) c.10507G>A (p.Ala3503Thr) c.3721G>A (p.Ala1241Thr) c.3700G>A (p.Ala1234Thr) n.10598G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.90745078G>C | CA360407602 | ADGRV1 | c.10582G>C (p.Ala3528Pro) c.265+68869G>C (n.265+68869G>C) n.3726G>C n.1001G>C c.3279G>C n.10595G>C c.10579G>C (p.Ala3527Pro) c.10501G>C (p.Ala3501Pro) c.7885G>C (p.Ala2629Pro) c.10603G>C (p.Ala3535Pro) c.10600G>C (p.Ala3534Pro) c.10522G>C (p.Ala3508Pro) c.10507G>C (p.Ala3503Pro) c.3721G>C (p.Ala1241Pro) c.3700G>C (p.Ala1234Pro) n.10598G>C |