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.90810996C>A | CA445468242 | ADGRV1 | c.15736C>A (p.Arg5246=) c.4690C>A (p.Arg1564=) n.3003C>A c.265+134787C>A (n.265+134787C>A) c.2146C>A (p.Arg716=) c.2719C>A (p.Arg907=) n.15749C>A c.15733C>A (p.Arg5245=) c.15655C>A (p.Arg5219=) c.13039C>A (p.Arg4347=) c.15757C>A (p.Arg5253=) c.15754C>A (p.Arg5252=) c.15676C>A (p.Arg5226=) c.15661C>A (p.Arg5221=) c.15577C>A (p.Arg5193=) c.8875C>A (p.Arg2959=) c.8854C>A (p.Arg2952=) n.15752C>A | COSMIC |
| 5 | g.90810996C= | CA1562908479 | ADGRV1 | c.15736C= (p.Arg5246=) c.4690C= (p.Arg1564=) n.3003C= c.265+134787C= (n.265+134787C=) c.2146C= (p.Arg716=) c.2719C= (p.Arg907=) n.15749C= c.15733C= (p.Arg5245=) c.15655C= (p.Arg5219=) c.13039C= (p.Arg4347=) c.15757C= (p.Arg5253=) c.15754C= (p.Arg5252=) c.15676C= (p.Arg5226=) c.15661C= (p.Arg5221=) c.15577C= (p.Arg5193=) c.8875C= (p.Arg2959=) c.8854C= (p.Arg2952=) n.15752C= | |
| 5 | g.90810996C>G | CA360410687 | ADGRV1 | c.15736C>G (p.Arg5246Gly) c.4690C>G (p.Arg1564Gly) n.3003C>G c.265+134787C>G (n.265+134787C>G) c.2146C>G (p.Arg716Gly) c.2719C>G (p.Arg907Gly) n.15749C>G c.15733C>G (p.Arg5245Gly) c.15655C>G (p.Arg5219Gly) c.13039C>G (p.Arg4347Gly) c.15757C>G (p.Arg5253Gly) c.15754C>G (p.Arg5252Gly) c.15676C>G (p.Arg5226Gly) c.15661C>G (p.Arg5221Gly) c.15577C>G (p.Arg5193Gly) c.8875C>G (p.Arg2959Gly) c.8854C>G (p.Arg2952Gly) n.15752C>G | COSMIC |
| 5 | g.90810996C>T | CA270124 | ADGRV1 | c.15736C>T (p.Arg5246Ter) c.4690C>T (p.Arg1564Ter) n.3003C>T c.265+134787C>T (n.265+134787C>T) c.2146C>T (p.Arg716Ter) c.2719C>T (p.Arg907Ter) n.15749C>T c.15733C>T (p.Arg5245Ter) c.15655C>T (p.Arg5219Ter) c.13039C>T (p.Arg4347Ter) c.15757C>T (p.Arg5253Ter) c.15754C>T (p.Arg5252Ter) c.15676C>T (p.Arg5226Ter) c.15661C>T (p.Arg5221Ter) c.15577C>T (p.Arg5193Ter) c.8875C>T (p.Arg2959Ter) c.8854C>T (p.Arg2952Ter) n.15752C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.90810997G>A | CA3341973 | ADGRV1 | c.15737G>A (p.Arg5246Gln) c.4691G>A (p.Arg1564Gln) n.3004G>A c.265+134788G>A (n.265+134788G>A) c.2147G>A (p.Arg716Gln) c.2720G>A (p.Arg907Gln) n.15750G>A c.15734G>A (p.Arg5245Gln) c.15656G>A (p.Arg5219Gln) c.13040G>A (p.Arg4347Gln) c.15758G>A (p.Arg5253Gln) c.15755G>A (p.Arg5252Gln) c.15677G>A (p.Arg5226Gln) c.15662G>A (p.Arg5221Gln) c.15578G>A (p.Arg5193Gln) c.8876G>A (p.Arg2959Gln) c.8855G>A (p.Arg2952Gln) n.15753G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90810997G>C | CA360410690 | ADGRV1 | c.15737G>C (p.Arg5246Pro) c.4691G>C (p.Arg1564Pro) n.3004G>C c.265+134788G>C (n.265+134788G>C) c.2147G>C (p.Arg716Pro) c.2720G>C (p.Arg907Pro) n.15750G>C c.15734G>C (p.Arg5245Pro) c.15656G>C (p.Arg5219Pro) c.13040G>C (p.Arg4347Pro) c.15758G>C (p.Arg5253Pro) c.15755G>C (p.Arg5252Pro) c.15677G>C (p.Arg5226Pro) c.15662G>C (p.Arg5221Pro) c.15578G>C (p.Arg5193Pro) c.8876G>C (p.Arg2959Pro) c.8855G>C (p.Arg2952Pro) n.15753G>C | |
| 5 | g.90810997G= | CA1562908488 | ADGRV1 | c.15737G= (p.Arg5246=) c.4691G= (p.Arg1564=) n.3004G= c.265+134788G= (n.265+134788G=) c.2147G= (p.Arg716=) c.2720G= (p.Arg907=) n.15750G= c.15734G= (p.Arg5245=) c.15656G= (p.Arg5219=) c.13040G= (p.Arg4347=) c.15758G= (p.Arg5253=) c.15755G= (p.Arg5252=) c.15677G= (p.Arg5226=) c.15662G= (p.Arg5221=) c.15578G= (p.Arg5193=) c.8876G= (p.Arg2959=) c.8855G= (p.Arg2952=) n.15753G= | |
| 5 | g.90810997G>T | CA3341972 | ADGRV1 | c.15737G>T (p.Arg5246Leu) c.4691G>T (p.Arg1564Leu) n.3004G>T c.265+134788G>T (n.265+134788G>T) c.2147G>T (p.Arg716Leu) c.2720G>T (p.Arg907Leu) n.15750G>T c.15734G>T (p.Arg5245Leu) c.15656G>T (p.Arg5219Leu) c.13040G>T (p.Arg4347Leu) c.15758G>T (p.Arg5253Leu) c.15755G>T (p.Arg5252Leu) c.15677G>T (p.Arg5226Leu) c.15662G>T (p.Arg5221Leu) c.15578G>T (p.Arg5193Leu) c.8876G>T (p.Arg2959Leu) c.8855G>T (p.Arg2952Leu) n.15753G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90810998A>C | CA445468252 | ADGRV1 | c.15738A>C (p.Arg5246=) c.4692A>C (p.Arg1564=) n.3005A>C c.265+134789A>C (n.265+134789A>C) c.2148A>C (p.Arg716=) c.2721A>C (p.Arg907=) n.15751A>C c.15735A>C (p.Arg5245=) c.15657A>C (p.Arg5219=) c.13041A>C (p.Arg4347=) c.15759A>C (p.Arg5253=) c.15756A>C (p.Arg5252=) c.15678A>C (p.Arg5226=) c.15663A>C (p.Arg5221=) c.15579A>C (p.Arg5193=) c.8877A>C (p.Arg2959=) c.8856A>C (p.Arg2952=) n.15754A>C | |
| 5 | g.90810998A>G | CA445468253 | ADGRV1 | c.15738A>G (p.Arg5246=) c.4692A>G (p.Arg1564=) n.3005A>G c.265+134789A>G (n.265+134789A>G) c.2148A>G (p.Arg716=) c.2721A>G (p.Arg907=) n.15751A>G c.15735A>G (p.Arg5245=) c.15657A>G (p.Arg5219=) c.13041A>G (p.Arg4347=) c.15759A>G (p.Arg5253=) c.15756A>G (p.Arg5252=) c.15678A>G (p.Arg5226=) c.15663A>G (p.Arg5221=) c.15579A>G (p.Arg5193=) c.8877A>G (p.Arg2959=) c.8856A>G (p.Arg2952=) n.15754A>G | |
| 5 | g.90810998A>T | CA445468254 | ADGRV1 | c.15738A>T (p.Arg5246=) c.4692A>T (p.Arg1564=) n.3005A>T c.265+134789A>T (n.265+134789A>T) c.2148A>T (p.Arg716=) c.2721A>T (p.Arg907=) n.15751A>T c.15735A>T (p.Arg5245=) c.15657A>T (p.Arg5219=) c.13041A>T (p.Arg4347=) c.15759A>T (p.Arg5253=) c.15756A>T (p.Arg5252=) c.15678A>T (p.Arg5226=) c.15663A>T (p.Arg5221=) c.15579A>T (p.Arg5193=) c.8877A>T (p.Arg2959=) c.8856A>T (p.Arg2952=) n.15754A>T | |
| 5 | g.90810999A>C | CA445468256 | ADGRV1 | c.15739A>C (p.Arg5247=) c.4693A>C (p.Arg1565=) n.3006A>C c.265+134790A>C (n.265+134790A>C) c.2149A>C (p.Arg717=) c.2722A>C (p.Arg908=) n.15752A>C c.15736A>C (p.Arg5246=) c.15658A>C (p.Arg5220=) c.13042A>C (p.Arg4348=) c.15760A>C (p.Arg5254=) c.15757A>C (p.Arg5253=) c.15679A>C (p.Arg5227=) c.15664A>C (p.Arg5222=) c.15580A>C (p.Arg5194=) c.8878A>C (p.Arg2960=) c.8857A>C (p.Arg2953=) n.15755A>C | |
| 5 | g.90810999A>G | CA360410691 | ADGRV1 | c.15739A>G (p.Arg5247Gly) c.4693A>G (p.Arg1565Gly) n.3006A>G c.265+134790A>G (n.265+134790A>G) c.2149A>G (p.Arg717Gly) c.2722A>G (p.Arg908Gly) n.15752A>G c.15736A>G (p.Arg5246Gly) c.15658A>G (p.Arg5220Gly) c.13042A>G (p.Arg4348Gly) c.15760A>G (p.Arg5254Gly) c.15757A>G (p.Arg5253Gly) c.15679A>G (p.Arg5227Gly) c.15664A>G (p.Arg5222Gly) c.15580A>G (p.Arg5194Gly) c.8878A>G (p.Arg2960Gly) c.8857A>G (p.Arg2953Gly) n.15755A>G | |
| 5 | g.90810999A>T | CA360410692 | ADGRV1 | c.15739A>T (p.Arg5247Ter) c.4693A>T (p.Arg1565Ter) n.3006A>T c.265+134790A>T (n.265+134790A>T) c.2149A>T (p.Arg717Ter) c.2722A>T (p.Arg908Ter) n.15752A>T c.15736A>T (p.Arg5246Ter) c.15658A>T (p.Arg5220Ter) c.13042A>T (p.Arg4348Ter) c.15760A>T (p.Arg5254Ter) c.15757A>T (p.Arg5253Ter) c.15679A>T (p.Arg5227Ter) c.15664A>T (p.Arg5222Ter) c.15580A>T (p.Arg5194Ter) c.8878A>T (p.Arg2960Ter) c.8857A>T (p.Arg2953Ter) n.15755A>T | |
| 5 | g.90811000G>A | CA122822112 | ADGRV1 | c.15740G>A (p.Arg5247Lys) c.4694G>A (p.Arg1565Lys) n.3007G>A c.265+134791G>A (n.265+134791G>A) c.2150G>A (p.Arg717Lys) c.2723G>A (p.Arg908Lys) n.15753G>A c.15737G>A (p.Arg5246Lys) c.15659G>A (p.Arg5220Lys) c.13043G>A (p.Arg4348Lys) c.15761G>A (p.Arg5254Lys) c.15758G>A (p.Arg5253Lys) c.15680G>A (p.Arg5227Lys) c.15665G>A (p.Arg5222Lys) c.15581G>A (p.Arg5194Lys) c.8879G>A (p.Arg2960Lys) c.8858G>A (p.Arg2953Lys) n.15756G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.90811000G>C | CA360410698 | ADGRV1 | c.15740G>C (p.Arg5247Thr) c.4694G>C (p.Arg1565Thr) n.3007G>C c.265+134791G>C (n.265+134791G>C) c.2150G>C (p.Arg717Thr) c.2723G>C (p.Arg908Thr) n.15753G>C c.15737G>C (p.Arg5246Thr) c.15659G>C (p.Arg5220Thr) c.13043G>C (p.Arg4348Thr) c.15761G>C (p.Arg5254Thr) c.15758G>C (p.Arg5253Thr) c.15680G>C (p.Arg5227Thr) c.15665G>C (p.Arg5222Thr) c.15581G>C (p.Arg5194Thr) c.8879G>C (p.Arg2960Thr) c.8858G>C (p.Arg2953Thr) n.15756G>C | |
| 5 | g.90811000G= | CA1562908497 | ADGRV1 | c.15740G= (p.Arg5247=) c.4694G= (p.Arg1565=) n.3007G= c.265+134791G= (n.265+134791G=) c.2150G= (p.Arg717=) c.2723G= (p.Arg908=) n.15753G= c.15737G= (p.Arg5246=) c.15659G= (p.Arg5220=) c.13043G= (p.Arg4348=) c.15761G= (p.Arg5254=) c.15758G= (p.Arg5253=) c.15680G= (p.Arg5227=) c.15665G= (p.Arg5222=) c.15581G= (p.Arg5194=) c.8879G= (p.Arg2960=) c.8858G= (p.Arg2953=) n.15756G= | |
| 5 | g.90811000G>T | CA3341974 | ADGRV1 | c.15740G>T (p.Arg5247Ile) c.4694G>T (p.Arg1565Ile) n.3007G>T c.265+134791G>T (n.265+134791G>T) c.2150G>T (p.Arg717Ile) c.2723G>T (p.Arg908Ile) n.15753G>T c.15737G>T (p.Arg5246Ile) c.15659G>T (p.Arg5220Ile) c.13043G>T (p.Arg4348Ile) c.15761G>T (p.Arg5254Ile) c.15758G>T (p.Arg5253Ile) c.15680G>T (p.Arg5227Ile) c.15665G>T (p.Arg5222Ile) c.15581G>T (p.Arg5194Ile) c.8879G>T (p.Arg2960Ile) c.8858G>T (p.Arg2953Ile) n.15756G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90811001A>C | CA360410700 | ADGRV1 | c.15741A>C (p.Arg5247Ser) c.4695A>C (p.Arg1565Ser) n.3008A>C c.265+134792A>C (n.265+134792A>C) c.2151A>C (p.Arg717Ser) c.2724A>C (p.Arg908Ser) n.15754A>C c.15738A>C (p.Arg5246Ser) c.15660A>C (p.Arg5220Ser) c.13044A>C (p.Arg4348Ser) c.15762A>C (p.Arg5254Ser) c.15759A>C (p.Arg5253Ser) c.15681A>C (p.Arg5227Ser) c.15666A>C (p.Arg5222Ser) c.15582A>C (p.Arg5194Ser) c.8880A>C (p.Arg2960Ser) c.8859A>C (p.Arg2953Ser) n.15757A>C | |
| 5 | g.90811001A>G | CA445468265 | ADGRV1 | c.15741A>G (p.Arg5247=) c.4695A>G (p.Arg1565=) n.3008A>G c.265+134792A>G (n.265+134792A>G) c.2151A>G (p.Arg717=) c.2724A>G (p.Arg908=) n.15754A>G c.15738A>G (p.Arg5246=) c.15660A>G (p.Arg5220=) c.13044A>G (p.Arg4348=) c.15762A>G (p.Arg5254=) c.15759A>G (p.Arg5253=) c.15681A>G (p.Arg5227=) c.15666A>G (p.Arg5222=) c.15582A>G (p.Arg5194=) c.8880A>G (p.Arg2960=) c.8859A>G (p.Arg2953=) n.15757A>G | |
| 5 | g.90811001A>T | CA360410701 | ADGRV1 | c.15741A>T (p.Arg5247Ser) c.4695A>T (p.Arg1565Ser) n.3008A>T c.265+134792A>T (n.265+134792A>T) c.2151A>T (p.Arg717Ser) c.2724A>T (p.Arg908Ser) n.15754A>T c.15738A>T (p.Arg5246Ser) c.15660A>T (p.Arg5220Ser) c.13044A>T (p.Arg4348Ser) c.15762A>T (p.Arg5254Ser) c.15759A>T (p.Arg5253Ser) c.15681A>T (p.Arg5227Ser) c.15666A>T (p.Arg5222Ser) c.15582A>T (p.Arg5194Ser) c.8880A>T (p.Arg2960Ser) c.8859A>T (p.Arg2953Ser) n.15757A>T | |
| 5 | g.90811002A= | CA1562908500 | ADGRV1 | c.15742A= (p.Thr5248=) c.4696A= (p.Thr1566=) n.3009A= c.265+134793A= (n.265+134793A=) c.2152A= (p.Thr718=) c.2725A= (p.Thr909=) n.15755A= c.15739A= (p.Thr5247=) c.15661A= (p.Thr5221=) c.13045A= (p.Thr4349=) c.15763A= (p.Thr5255=) c.15760A= (p.Thr5254=) c.15682A= (p.Thr5228=) c.15667A= (p.Thr5223=) c.15583A= (p.Thr5195=) c.8881A= (p.Thr2961=) c.8860A= (p.Thr2954=) n.15758A= | |
| 5 | g.90811002A>C | CA360410704 | ADGRV1 | c.15742A>C (p.Thr5248Pro) c.4696A>C (p.Thr1566Pro) n.3009A>C c.265+134793A>C (n.265+134793A>C) c.2152A>C (p.Thr718Pro) c.2725A>C (p.Thr909Pro) n.15755A>C c.15739A>C (p.Thr5247Pro) c.15661A>C (p.Thr5221Pro) c.13045A>C (p.Thr4349Pro) c.15763A>C (p.Thr5255Pro) c.15760A>C (p.Thr5254Pro) c.15682A>C (p.Thr5228Pro) c.15667A>C (p.Thr5223Pro) c.15583A>C (p.Thr5195Pro) c.8881A>C (p.Thr2961Pro) c.8860A>C (p.Thr2954Pro) n.15758A>C | |
| 5 | g.90811002A>G | CA360410705 | ADGRV1 | c.15742A>G (p.Thr5248Ala) c.4696A>G (p.Thr1566Ala) n.3009A>G c.265+134793A>G (n.265+134793A>G) c.2152A>G (p.Thr718Ala) c.2725A>G (p.Thr909Ala) n.15755A>G c.15739A>G (p.Thr5247Ala) c.15661A>G (p.Thr5221Ala) c.13045A>G (p.Thr4349Ala) c.15763A>G (p.Thr5255Ala) c.15760A>G (p.Thr5254Ala) c.15682A>G (p.Thr5228Ala) c.15667A>G (p.Thr5223Ala) c.15583A>G (p.Thr5195Ala) c.8881A>G (p.Thr2961Ala) c.8860A>G (p.Thr2954Ala) n.15758A>G | |
| 5 | g.90811002A>T | CA360410706 | ADGRV1 | c.15742A>T (p.Thr5248Ser) c.4696A>T (p.Thr1566Ser) n.3009A>T c.265+134793A>T (n.265+134793A>T) c.2152A>T (p.Thr718Ser) c.2725A>T (p.Thr909Ser) n.15755A>T c.15739A>T (p.Thr5247Ser) c.15661A>T (p.Thr5221Ser) c.13045A>T (p.Thr4349Ser) c.15763A>T (p.Thr5255Ser) c.15760A>T (p.Thr5254Ser) c.15682A>T (p.Thr5228Ser) c.15667A>T (p.Thr5223Ser) c.15583A>T (p.Thr5195Ser) c.8881A>T (p.Thr2961Ser) c.8860A>T (p.Thr2954Ser) n.15758A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.90811003C>A | CA360410710 | ADGRV1 | c.15743C>A (p.Thr5248Asn) c.4697C>A (p.Thr1566Asn) n.3010C>A c.265+134794C>A (n.265+134794C>A) c.2153C>A (p.Thr718Asn) c.2726C>A (p.Thr909Asn) n.15756C>A c.15740C>A (p.Thr5247Asn) c.15662C>A (p.Thr5221Asn) c.13046C>A (p.Thr4349Asn) c.15764C>A (p.Thr5255Asn) c.15761C>A (p.Thr5254Asn) c.15683C>A (p.Thr5228Asn) c.15668C>A (p.Thr5223Asn) c.15584C>A (p.Thr5195Asn) c.8882C>A (p.Thr2961Asn) c.8861C>A (p.Thr2954Asn) n.15759C>A | |
| 5 | g.90811003C= | CA1562908504 | ADGRV1 | c.15743C= (p.Thr5248=) c.4697C= (p.Thr1566=) n.3010C= c.265+134794C= (n.265+134794C=) c.2153C= (p.Thr718=) c.2726C= (p.Thr909=) n.15756C= c.15740C= (p.Thr5247=) c.15662C= (p.Thr5221=) c.13046C= (p.Thr4349=) c.15764C= (p.Thr5255=) c.15761C= (p.Thr5254=) c.15683C= (p.Thr5228=) c.15668C= (p.Thr5223=) c.15584C= (p.Thr5195=) c.8882C= (p.Thr2961=) c.8861C= (p.Thr2954=) n.15759C= | |
| 5 | g.90811003C>G | CA360410708 | ADGRV1 | c.15743C>G (p.Thr5248Ser) c.4697C>G (p.Thr1566Ser) n.3010C>G c.265+134794C>G (n.265+134794C>G) c.2153C>G (p.Thr718Ser) c.2726C>G (p.Thr909Ser) n.15756C>G c.15740C>G (p.Thr5247Ser) c.15662C>G (p.Thr5221Ser) c.13046C>G (p.Thr4349Ser) c.15764C>G (p.Thr5255Ser) c.15761C>G (p.Thr5254Ser) c.15683C>G (p.Thr5228Ser) c.15668C>G (p.Thr5223Ser) c.15584C>G (p.Thr5195Ser) c.8882C>G (p.Thr2961Ser) c.8861C>G (p.Thr2954Ser) n.15759C>G | gnomAD v4 |
| 5 | g.90811003C>T | CA3341975 | ADGRV1 | c.15743C>T (p.Thr5248Ile) c.4697C>T (p.Thr1566Ile) n.3010C>T c.265+134794C>T (n.265+134794C>T) c.2153C>T (p.Thr718Ile) c.2726C>T (p.Thr909Ile) n.15756C>T c.15740C>T (p.Thr5247Ile) c.15662C>T (p.Thr5221Ile) c.13046C>T (p.Thr4349Ile) c.15764C>T (p.Thr5255Ile) c.15761C>T (p.Thr5254Ile) c.15683C>T (p.Thr5228Ile) c.15668C>T (p.Thr5223Ile) c.15584C>T (p.Thr5195Ile) c.8882C>T (p.Thr2961Ile) c.8861C>T (p.Thr2954Ile) n.15759C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90811004T>A | CA445468284 | ADGRV1 | c.15744T>A (p.Thr5248=) c.4698T>A (p.Thr1566=) n.3011T>A c.265+134795T>A (n.265+134795T>A) c.2154T>A (p.Thr718=) c.2727T>A (p.Thr909=) n.15757T>A c.15741T>A (p.Thr5247=) c.15663T>A (p.Thr5221=) c.13047T>A (p.Thr4349=) c.15765T>A (p.Thr5255=) c.15762T>A (p.Thr5254=) c.15684T>A (p.Thr5228=) c.15669T>A (p.Thr5223=) c.15585T>A (p.Thr5195=) c.8883T>A (p.Thr2961=) c.8862T>A (p.Thr2954=) n.15760T>A | |
| 5 | g.90811004T>C | CA445468279 | ADGRV1 | c.15744T>C (p.Thr5248=) c.4698T>C (p.Thr1566=) n.3011T>C c.265+134795T>C (n.265+134795T>C) c.2154T>C (p.Thr718=) c.2727T>C (p.Thr909=) n.15757T>C c.15741T>C (p.Thr5247=) c.15663T>C (p.Thr5221=) c.13047T>C (p.Thr4349=) c.15765T>C (p.Thr5255=) c.15762T>C (p.Thr5254=) c.15684T>C (p.Thr5228=) c.15669T>C (p.Thr5223=) c.15585T>C (p.Thr5195=) c.8883T>C (p.Thr2961=) c.8862T>C (p.Thr2954=) n.15760T>C | |
| 5 | g.90811004T>G | CA445468276 | ADGRV1 | c.15744T>G (p.Thr5248=) c.4698T>G (p.Thr1566=) n.3011T>G c.265+134795T>G (n.265+134795T>G) c.2154T>G (p.Thr718=) c.2727T>G (p.Thr909=) n.15757T>G c.15741T>G (p.Thr5247=) c.15663T>G (p.Thr5221=) c.13047T>G (p.Thr4349=) c.15765T>G (p.Thr5255=) c.15762T>G (p.Thr5254=) c.15684T>G (p.Thr5228=) c.15669T>G (p.Thr5223=) c.15585T>G (p.Thr5195=) c.8883T>G (p.Thr2961=) c.8862T>G (p.Thr2954=) n.15760T>G | |
| 5 | g.90811005G>A | CA360410711 | ADGRV1 | c.15745G>A (p.Gly5249Ser) c.4699G>A (p.Gly1567Ser) n.3012G>A c.265+134796G>A (n.265+134796G>A) c.2155G>A (p.Gly719Ser) c.2728G>A (p.Gly910Ser) n.15758G>A c.15742G>A (p.Gly5248Ser) c.15664G>A (p.Gly5222Ser) c.13048G>A (p.Gly4350Ser) c.15766G>A (p.Gly5256Ser) c.15763G>A (p.Gly5255Ser) c.15685G>A (p.Gly5229Ser) c.15670G>A (p.Gly5224Ser) c.15586G>A (p.Gly5196Ser) c.8884G>A (p.Gly2962Ser) c.8863G>A (p.Gly2955Ser) n.15761G>A | |
| 5 | g.90811005G>C | CA360410712 | ADGRV1 | c.15745G>C (p.Gly5249Arg) c.4699G>C (p.Gly1567Arg) n.3012G>C c.265+134796G>C (n.265+134796G>C) c.2155G>C (p.Gly719Arg) c.2728G>C (p.Gly910Arg) n.15758G>C c.15742G>C (p.Gly5248Arg) c.15664G>C (p.Gly5222Arg) c.13048G>C (p.Gly4350Arg) c.15766G>C (p.Gly5256Arg) c.15763G>C (p.Gly5255Arg) c.15685G>C (p.Gly5229Arg) c.15670G>C (p.Gly5224Arg) c.15586G>C (p.Gly5196Arg) c.8884G>C (p.Gly2962Arg) c.8863G>C (p.Gly2955Arg) n.15761G>C | |
| 5 | g.90811005G>T | CA360410714 | ADGRV1 | c.15745G>T (p.Gly5249Cys) c.4699G>T (p.Gly1567Cys) n.3012G>T c.265+134796G>T (n.265+134796G>T) c.2155G>T (p.Gly719Cys) c.2728G>T (p.Gly910Cys) n.15758G>T c.15742G>T (p.Gly5248Cys) c.15664G>T (p.Gly5222Cys) c.13048G>T (p.Gly4350Cys) c.15766G>T (p.Gly5256Cys) c.15763G>T (p.Gly5255Cys) c.15685G>T (p.Gly5229Cys) c.15670G>T (p.Gly5224Cys) c.15586G>T (p.Gly5196Cys) c.8884G>T (p.Gly2962Cys) c.8863G>T (p.Gly2955Cys) n.15761G>T | |
| 5 | g.90811006G>A | CA360410717 | ADGRV1 | c.15746G>A (p.Gly5249Asp) c.4700G>A (p.Gly1567Asp) n.3013G>A c.265+134797G>A (n.265+134797G>A) c.2156G>A (p.Gly719Asp) c.2729G>A (p.Gly910Asp) n.15759G>A c.15743G>A (p.Gly5248Asp) c.15665G>A (p.Gly5222Asp) c.13049G>A (p.Gly4350Asp) c.15767G>A (p.Gly5256Asp) c.15764G>A (p.Gly5255Asp) c.15686G>A (p.Gly5229Asp) c.15671G>A (p.Gly5224Asp) c.15587G>A (p.Gly5196Asp) c.8885G>A (p.Gly2962Asp) c.8864G>A (p.Gly2955Asp) n.15762G>A | dbSNP gnomAD v4 |
| 5 | g.90811006G>C | CA360410718 | ADGRV1 | c.15746G>C (p.Gly5249Ala) c.4700G>C (p.Gly1567Ala) n.3013G>C c.265+134797G>C (n.265+134797G>C) c.2156G>C (p.Gly719Ala) c.2729G>C (p.Gly910Ala) n.15759G>C c.15743G>C (p.Gly5248Ala) c.15665G>C (p.Gly5222Ala) c.13049G>C (p.Gly4350Ala) c.15767G>C (p.Gly5256Ala) c.15764G>C (p.Gly5255Ala) c.15686G>C (p.Gly5229Ala) c.15671G>C (p.Gly5224Ala) c.15587G>C (p.Gly5196Ala) c.8885G>C (p.Gly2962Ala) c.8864G>C (p.Gly2955Ala) n.15762G>C | |
| 5 | g.90811006G>T | CA360410720 | ADGRV1 | c.15746G>T (p.Gly5249Val) c.4700G>T (p.Gly1567Val) n.3013G>T c.265+134797G>T (n.265+134797G>T) c.2156G>T (p.Gly719Val) c.2729G>T (p.Gly910Val) n.15759G>T c.15743G>T (p.Gly5248Val) c.15665G>T (p.Gly5222Val) c.13049G>T (p.Gly4350Val) c.15767G>T (p.Gly5256Val) c.15764G>T (p.Gly5255Val) c.15686G>T (p.Gly5229Val) c.15671G>T (p.Gly5224Val) c.15587G>T (p.Gly5196Val) c.8885G>T (p.Gly2962Val) c.8864G>T (p.Gly2955Val) n.15762G>T | |
| 5 | g.90811007T>A | CA445468288 | ADGRV1 | c.15747T>A (p.Gly5249=) c.4701T>A (p.Gly1567=) n.3014T>A c.265+134798T>A (n.265+134798T>A) c.2157T>A (p.Gly719=) c.2730T>A (p.Gly910=) n.15760T>A c.15744T>A (p.Gly5248=) c.15666T>A (p.Gly5222=) c.13050T>A (p.Gly4350=) c.15768T>A (p.Gly5256=) c.15765T>A (p.Gly5255=) c.15687T>A (p.Gly5229=) c.15672T>A (p.Gly5224=) c.15588T>A (p.Gly5196=) c.8886T>A (p.Gly2962=) c.8865T>A (p.Gly2955=) n.15763T>A | |
| 5 | g.90811007T>C | CA445468291 | ADGRV1 | c.15747T>C (p.Gly5249=) c.4701T>C (p.Gly1567=) n.3014T>C c.265+134798T>C (n.265+134798T>C) c.2157T>C (p.Gly719=) c.2730T>C (p.Gly910=) n.15760T>C c.15744T>C (p.Gly5248=) c.15666T>C (p.Gly5222=) c.13050T>C (p.Gly4350=) c.15768T>C (p.Gly5256=) c.15765T>C (p.Gly5255=) c.15687T>C (p.Gly5229=) c.15672T>C (p.Gly5224=) c.15588T>C (p.Gly5196=) c.8886T>C (p.Gly2962=) c.8865T>C (p.Gly2955=) n.15763T>C | |
| 5 | g.90811007T>G | CA445468289 | ADGRV1 | c.15747T>G (p.Gly5249=) c.4701T>G (p.Gly1567=) n.3014T>G c.265+134798T>G (n.265+134798T>G) c.2157T>G (p.Gly719=) c.2730T>G (p.Gly910=) n.15760T>G c.15744T>G (p.Gly5248=) c.15666T>G (p.Gly5222=) c.13050T>G (p.Gly4350=) c.15768T>G (p.Gly5256=) c.15765T>G (p.Gly5255=) c.15687T>G (p.Gly5229=) c.15672T>G (p.Gly5224=) c.15588T>G (p.Gly5196=) c.8886T>G (p.Gly2962=) c.8865T>G (p.Gly2955=) n.15763T>G | |
| 5 | g.90811008G>A | CA360410723 | ADGRV1 | c.15748G>A (p.Gly5250Arg) c.4702G>A (p.Gly1568Arg) n.3015G>A c.265+134799G>A (n.265+134799G>A) c.2158G>A (p.Gly720Arg) c.2731G>A (p.Gly911Arg) n.15761G>A c.15745G>A (p.Gly5249Arg) c.15667G>A (p.Gly5223Arg) c.13051G>A (p.Gly4351Arg) c.15769G>A (p.Gly5257Arg) c.15766G>A (p.Gly5256Arg) c.15688G>A (p.Gly5230Arg) c.15673G>A (p.Gly5225Arg) c.15589G>A (p.Gly5197Arg) c.8887G>A (p.Gly2963Arg) c.8866G>A (p.Gly2956Arg) n.15764G>A | gnomAD v4 |
| 5 | g.90811008G>C | CA360410725 | ADGRV1 | c.15748G>C (p.Gly5250Arg) c.4702G>C (p.Gly1568Arg) n.3015G>C c.265+134799G>C (n.265+134799G>C) c.2158G>C (p.Gly720Arg) c.2731G>C (p.Gly911Arg) n.15761G>C c.15745G>C (p.Gly5249Arg) c.15667G>C (p.Gly5223Arg) c.13051G>C (p.Gly4351Arg) c.15769G>C (p.Gly5257Arg) c.15766G>C (p.Gly5256Arg) c.15688G>C (p.Gly5230Arg) c.15673G>C (p.Gly5225Arg) c.15589G>C (p.Gly5197Arg) c.8887G>C (p.Gly2963Arg) c.8866G>C (p.Gly2956Arg) n.15764G>C | |
| 5 | g.90811008G>T | CA360410722 | ADGRV1 | c.15748G>T (p.Gly5250Trp) c.4702G>T (p.Gly1568Trp) n.3015G>T c.265+134799G>T (n.265+134799G>T) c.2158G>T (p.Gly720Trp) c.2731G>T (p.Gly911Trp) n.15761G>T c.15745G>T (p.Gly5249Trp) c.15667G>T (p.Gly5223Trp) c.13051G>T (p.Gly4351Trp) c.15769G>T (p.Gly5257Trp) c.15766G>T (p.Gly5256Trp) c.15688G>T (p.Gly5230Trp) c.15673G>T (p.Gly5225Trp) c.15589G>T (p.Gly5197Trp) c.8887G>T (p.Gly2963Trp) c.8866G>T (p.Gly2956Trp) n.15764G>T | |
| 5 | g.90811009G>A | CA360410727 | ADGRV1 | c.15749G>A (p.Gly5250Glu) c.4703G>A (p.Gly1568Glu) n.3016G>A c.265+134800G>A (n.265+134800G>A) c.2159G>A (p.Gly720Glu) c.2732G>A (p.Gly911Glu) n.15762G>A c.15746G>A (p.Gly5249Glu) c.15668G>A (p.Gly5223Glu) c.13052G>A (p.Gly4351Glu) c.15770G>A (p.Gly5257Glu) c.15767G>A (p.Gly5256Glu) c.15689G>A (p.Gly5230Glu) c.15674G>A (p.Gly5225Glu) c.15590G>A (p.Gly5197Glu) c.8888G>A (p.Gly2963Glu) c.8867G>A (p.Gly2956Glu) n.15765G>A | |
| 5 | g.90811009G>C | CA360410726 | ADGRV1 | c.15749G>C (p.Gly5250Ala) c.4703G>C (p.Gly1568Ala) n.3016G>C c.265+134800G>C (n.265+134800G>C) c.2159G>C (p.Gly720Ala) c.2732G>C (p.Gly911Ala) n.15762G>C c.15746G>C (p.Gly5249Ala) c.15668G>C (p.Gly5223Ala) c.13052G>C (p.Gly4351Ala) c.15770G>C (p.Gly5257Ala) c.15767G>C (p.Gly5256Ala) c.15689G>C (p.Gly5230Ala) c.15674G>C (p.Gly5225Ala) c.15590G>C (p.Gly5197Ala) c.8888G>C (p.Gly2963Ala) c.8867G>C (p.Gly2956Ala) n.15765G>C | |
| 5 | g.90811009G>T | CA360410728 | ADGRV1 | c.15749G>T (p.Gly5250Val) c.4703G>T (p.Gly1568Val) n.3016G>T c.265+134800G>T (n.265+134800G>T) c.2159G>T (p.Gly720Val) c.2732G>T (p.Gly911Val) n.15762G>T c.15746G>T (p.Gly5249Val) c.15668G>T (p.Gly5223Val) c.13052G>T (p.Gly4351Val) c.15770G>T (p.Gly5257Val) c.15767G>T (p.Gly5256Val) c.15689G>T (p.Gly5230Val) c.15674G>T (p.Gly5225Val) c.15590G>T (p.Gly5197Val) c.8888G>T (p.Gly2963Val) c.8867G>T (p.Gly2956Val) n.15765G>T | |
| 5 | g.90811010G>A | CA445468302 | ADGRV1 | c.15750G>A (p.Gly5250=) c.4704G>A (p.Gly1568=) n.3017G>A c.265+134801G>A (n.265+134801G>A) c.2160G>A (p.Gly720=) c.2733G>A (p.Gly911=) n.15763G>A c.15747G>A (p.Gly5249=) c.15669G>A (p.Gly5223=) c.13053G>A (p.Gly4351=) c.15771G>A (p.Gly5257=) c.15768G>A (p.Gly5256=) c.15690G>A (p.Gly5230=) c.15675G>A (p.Gly5225=) c.15591G>A (p.Gly5197=) c.8889G>A (p.Gly2963=) c.8868G>A (p.Gly2956=) n.15766G>A | gnomAD v4 |
| 5 | g.90811010G>C | CA445468305 | ADGRV1 | c.15750G>C (p.Gly5250=) c.4704G>C (p.Gly1568=) n.3017G>C c.265+134801G>C (n.265+134801G>C) c.2160G>C (p.Gly720=) c.2733G>C (p.Gly911=) n.15763G>C c.15747G>C (p.Gly5249=) c.15669G>C (p.Gly5223=) c.13053G>C (p.Gly4351=) c.15771G>C (p.Gly5257=) c.15768G>C (p.Gly5256=) c.15690G>C (p.Gly5230=) c.15675G>C (p.Gly5225=) c.15591G>C (p.Gly5197=) c.8889G>C (p.Gly2963=) c.8868G>C (p.Gly2956=) n.15766G>C | |
| 5 | g.90811010G= | CA1562908509 | ADGRV1 | c.15750G= (p.Gly5250=) c.4704G= (p.Gly1568=) n.3017G= c.265+134801G= (n.265+134801G=) c.2160G= (p.Gly720=) c.2733G= (p.Gly911=) n.15763G= c.15747G= (p.Gly5249=) c.15669G= (p.Gly5223=) c.13053G= (p.Gly4351=) c.15771G= (p.Gly5257=) c.15768G= (p.Gly5256=) c.15690G= (p.Gly5230=) c.15675G= (p.Gly5225=) c.15591G= (p.Gly5197=) c.8889G= (p.Gly2963=) c.8868G= (p.Gly2956=) n.15766G= |