Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.90712327_90712332delCA2674570067ADGRV1c.9083_9088del (p.Asn3028_Ile3029del)
c.265+36118_265+36123del (n.265+36118_265+36123del)
n.4542_4547del
c.2890_2895del
n.2227_2232del
c.3812_3817del
c.1780_1785del
n.9096_9101del
c.9080_9085del (p.Asn3027_Ile3028del)
c.9002_9007del (p.Asn3001_Ile3002del)
c.6386_6391del (p.Asn2129_Ile2130del)
c.9104_9109del (p.Asn3035_Ile3036del)
c.9101_9106del (p.Asn3034_Ile3035del)
c.9023_9028del (p.Asn3008_Ile3009del)
c.9008_9013del (p.Asn3003_Ile3004del)
c.2222_2227del (p.Asn741_Ile742del)
c.2201_2206del (p.Asn734_Ile735del)
n.9099_9104del
 gnomAD v4
5g.90712325C>ACA445411824ADGRV1c.9081C>A (p.Val3027=)
c.265+36116C>A (n.265+36116C>A)
n.4540C>A
c.2888C>A
n.2225C>A
c.3810C>A
c.1778C>A
n.9094C>A
c.9078C>A (p.Val3026=)
c.9000C>A (p.Val3000=)
c.6384C>A (p.Val2128=)
c.9102C>A (p.Val3034=)
c.9099C>A (p.Val3033=)
c.9021C>A (p.Val3007=)
c.9006C>A (p.Val3002=)
c.2220C>A (p.Val740=)
c.2199C>A (p.Val733=)
n.9097C>A
 gnomAD v4
5g.90712325C>GCA445411827ADGRV1c.9081C>G (p.Val3027=)
c.265+36116C>G (n.265+36116C>G)
n.4540C>G
c.2888C>G
n.2225C>G
c.3810C>G
c.1778C>G
n.9094C>G
c.9078C>G (p.Val3026=)
c.9000C>G (p.Val3000=)
c.6384C>G (p.Val2128=)
c.9102C>G (p.Val3034=)
c.9099C>G (p.Val3033=)
c.9021C>G (p.Val3007=)
c.9006C>G (p.Val3002=)
c.2220C>G (p.Val740=)
c.2199C>G (p.Val733=)
n.9097C>G
5g.90712325C>TCA445411825ADGRV1c.9081C>T (p.Val3027=)
c.265+36116C>T (n.265+36116C>T)
n.4540C>T
c.2888C>T
n.2225C>T
c.3810C>T
c.1778C>T
n.9094C>T
c.9078C>T (p.Val3026=)
c.9000C>T (p.Val3000=)
c.6384C>T (p.Val2128=)
c.9102C>T (p.Val3034=)
c.9099C>T (p.Val3033=)
c.9021C>T (p.Val3007=)
c.9006C>T (p.Val3002=)
c.2220C>T (p.Val740=)
c.2199C>T (p.Val733=)
n.9097C>T
 gnomAD v4
5g.90712326A>CCA360396198ADGRV1c.9082A>C (p.Asn3028His)
c.265+36117A>C (n.265+36117A>C)
n.4541A>C
c.2889A>C
n.2226A>C
c.3811A>C
c.1779A>C
n.9095A>C
c.9079A>C (p.Asn3027His)
c.9001A>C (p.Asn3001His)
c.6385A>C (p.Asn2129His)
c.9103A>C (p.Asn3035His)
c.9100A>C (p.Asn3034His)
c.9022A>C (p.Asn3008His)
c.9007A>C (p.Asn3003His)
c.2221A>C (p.Asn741His)
c.2200A>C (p.Asn734His)
n.9098A>C
5g.90712326A>GCA360396199ADGRV1c.9082A>G (p.Asn3028Asp)
c.265+36117A>G (n.265+36117A>G)
n.4541A>G
c.2889A>G
n.2226A>G
c.3811A>G
c.1779A>G
n.9095A>G
c.9079A>G (p.Asn3027Asp)
c.9001A>G (p.Asn3001Asp)
c.6385A>G (p.Asn2129Asp)
c.9103A>G (p.Asn3035Asp)
c.9100A>G (p.Asn3034Asp)
c.9022A>G (p.Asn3008Asp)
c.9007A>G (p.Asn3003Asp)
c.2221A>G (p.Asn741Asp)
c.2200A>G (p.Asn734Asp)
n.9098A>G
5g.90712326A>TCA360396200ADGRV1c.9082A>T (p.Asn3028Tyr)
c.265+36117A>T (n.265+36117A>T)
n.4541A>T
c.2889A>T
n.2226A>T
c.3811A>T
c.1779A>T
n.9095A>T
c.9079A>T (p.Asn3027Tyr)
c.9001A>T (p.Asn3001Tyr)
c.6385A>T (p.Asn2129Tyr)
c.9103A>T (p.Asn3035Tyr)
c.9100A>T (p.Asn3034Tyr)
c.9022A>T (p.Asn3008Tyr)
c.9007A>T (p.Asn3003Tyr)
c.2221A>T (p.Asn741Tyr)
c.2200A>T (p.Asn734Tyr)
n.9098A>T
5g.90712326_90712327insTTGCA2535339681ADGRV1c.9082_9083insTTG (p.Asn3028delinsIleAsp)
c.265+36117_265+36118insTTG (n.265+36117_265+36118insTTG)
n.4541_4542insTTG
c.2889_2890insTTG
n.2226_2227insTTG
c.3811_3812insTTG
c.1779_1780insTTG
n.9095_9096insTTG
c.9079_9080insTTG (p.Asn3027delinsIleAsp)
c.9001_9002insTTG (p.Asn3001delinsIleAsp)
c.6385_6386insTTG (p.Asn2129delinsIleAsp)
c.9103_9104insTTG (p.Asn3035delinsIleAsp)
c.9100_9101insTTG (p.Asn3034delinsIleAsp)
c.9022_9023insTTG (p.Asn3008delinsIleAsp)
c.9007_9008insTTG (p.Asn3003delinsIleAsp)
c.2221_2222insTTG (p.Asn741delinsIleAsp)
c.2200_2201insTTG (p.Asn734delinsIleAsp)
n.9098_9099insTTG
5g.90712327A=CA1562867532ADGRV1c.9083A= (p.Asn3028=)
c.265+36118A= (n.265+36118A=)
n.4542A=
c.2890A=
n.2227A=
c.3812A=
c.1780A=
n.9096A=
c.9080A= (p.Asn3027=)
c.9002A= (p.Asn3001=)
c.6386A= (p.Asn2129=)
c.9104A= (p.Asn3035=)
c.9101A= (p.Asn3034=)
c.9023A= (p.Asn3008=)
c.9008A= (p.Asn3003=)
c.2222A= (p.Asn741=)
c.2201A= (p.Asn734=)
n.9099A=
5g.90712327A>CCA360396202ADGRV1c.9083A>C (p.Asn3028Thr)
c.265+36118A>C (n.265+36118A>C)
n.4542A>C
c.2890A>C
n.2227A>C
c.3812A>C
c.1780A>C
n.9096A>C
c.9080A>C (p.Asn3027Thr)
c.9002A>C (p.Asn3001Thr)
c.6386A>C (p.Asn2129Thr)
c.9104A>C (p.Asn3035Thr)
c.9101A>C (p.Asn3034Thr)
c.9023A>C (p.Asn3008Thr)
c.9008A>C (p.Asn3003Thr)
c.2222A>C (p.Asn741Thr)
c.2201A>C (p.Asn734Thr)
n.9099A>C
5g.90712327A>GCA245640ADGRV1c.9083A>G (p.Asn3028Ser)
c.265+36118A>G (n.265+36118A>G)
n.4542A>G
c.2890A>G
n.2227A>G
c.3812A>G
c.1780A>G
n.9096A>G
c.9080A>G (p.Asn3027Ser)
c.9002A>G (p.Asn3001Ser)
c.6386A>G (p.Asn2129Ser)
c.9104A>G (p.Asn3035Ser)
c.9101A>G (p.Asn3034Ser)
c.9023A>G (p.Asn3008Ser)
c.9008A>G (p.Asn3003Ser)
c.2222A>G (p.Asn741Ser)
c.2201A>G (p.Asn734Ser)
n.9099A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90712327A>TCA360396201ADGRV1c.9083A>T (p.Asn3028Ile)
c.265+36118A>T (n.265+36118A>T)
n.4542A>T
c.2890A>T
n.2227A>T
c.3812A>T
c.1780A>T
n.9096A>T
c.9080A>T (p.Asn3027Ile)
c.9002A>T (p.Asn3001Ile)
c.6386A>T (p.Asn2129Ile)
c.9104A>T (p.Asn3035Ile)
c.9101A>T (p.Asn3034Ile)
c.9023A>T (p.Asn3008Ile)
c.9008A>T (p.Asn3003Ile)
c.2222A>T (p.Asn741Ile)
c.2201A>T (p.Asn734Ile)
n.9099A>T
5g.90712328T>ACA360396203ADGRV1c.9084T>A (p.Asn3028Lys)
c.265+36119T>A (n.265+36119T>A)
n.4543T>A
c.2891T>A
n.2228T>A
c.3813T>A
c.1781T>A
n.9097T>A
c.9081T>A (p.Asn3027Lys)
c.9003T>A (p.Asn3001Lys)
c.6387T>A (p.Asn2129Lys)
c.9105T>A (p.Asn3035Lys)
c.9102T>A (p.Asn3034Lys)
c.9024T>A (p.Asn3008Lys)
c.9009T>A (p.Asn3003Lys)
c.2223T>A (p.Asn741Lys)
c.2202T>A (p.Asn734Lys)
n.9100T>A
5g.90712328T>CCA445411834ADGRV1c.9084T>C (p.Asn3028=)
c.265+36119T>C (n.265+36119T>C)
n.4543T>C
c.2891T>C
n.2228T>C
c.3813T>C
c.1781T>C
n.9097T>C
c.9081T>C (p.Asn3027=)
c.9003T>C (p.Asn3001=)
c.6387T>C (p.Asn2129=)
c.9105T>C (p.Asn3035=)
c.9102T>C (p.Asn3034=)
c.9024T>C (p.Asn3008=)
c.9009T>C (p.Asn3003=)
c.2223T>C (p.Asn741=)
c.2202T>C (p.Asn734=)
n.9100T>C
 ClinVar
5g.90712328T>GCA360396204ADGRV1c.9084T>G (p.Asn3028Lys)
c.265+36119T>G (n.265+36119T>G)
n.4543T>G
c.2891T>G
n.2228T>G
c.3813T>G
c.1781T>G
n.9097T>G
c.9081T>G (p.Asn3027Lys)
c.9003T>G (p.Asn3001Lys)
c.6387T>G (p.Asn2129Lys)
c.9105T>G (p.Asn3035Lys)
c.9102T>G (p.Asn3034Lys)
c.9024T>G (p.Asn3008Lys)
c.9009T>G (p.Asn3003Lys)
c.2223T>G (p.Asn741Lys)
c.2202T>G (p.Asn734Lys)
n.9100T>G
5g.90712329A=CA1562867533ADGRV1c.9085A= (p.Ile3029=)
c.265+36120A= (n.265+36120A=)
n.4544A=
c.2892A=
n.2229A=
c.3814A=
c.1782A=
n.9098A=
c.9082A= (p.Ile3028=)
c.9004A= (p.Ile3002=)
c.6388A= (p.Ile2130=)
c.9106A= (p.Ile3036=)
c.9103A= (p.Ile3035=)
c.9025A= (p.Ile3009=)
c.9010A= (p.Ile3004=)
c.2224A= (p.Ile742=)
c.2203A= (p.Ile735=)
n.9101A=
5g.90712329A>CCA360396205ADGRV1c.9085A>C (p.Ile3029Leu)
c.265+36120A>C (n.265+36120A>C)
n.4544A>C
c.2892A>C
n.2229A>C
c.3814A>C
c.1782A>C
n.9098A>C
c.9082A>C (p.Ile3028Leu)
c.9004A>C (p.Ile3002Leu)
c.6388A>C (p.Ile2130Leu)
c.9106A>C (p.Ile3036Leu)
c.9103A>C (p.Ile3035Leu)
c.9025A>C (p.Ile3009Leu)
c.9010A>C (p.Ile3004Leu)
c.2224A>C (p.Ile742Leu)
c.2203A>C (p.Ile735Leu)
n.9101A>C
5g.90712329A>GCA360396206ADGRV1c.9085A>G (p.Ile3029Val)
c.265+36120A>G (n.265+36120A>G)
n.4544A>G
c.2892A>G
n.2229A>G
c.3814A>G
c.1782A>G
n.9098A>G
c.9082A>G (p.Ile3028Val)
c.9004A>G (p.Ile3002Val)
c.6388A>G (p.Ile2130Val)
c.9106A>G (p.Ile3036Val)
c.9103A>G (p.Ile3035Val)
c.9025A>G (p.Ile3009Val)
c.9010A>G (p.Ile3004Val)
c.2224A>G (p.Ile742Val)
c.2203A>G (p.Ile735Val)
n.9101A>G
 dbSNP
5g.90712329A>TCA360396207ADGRV1c.9085A>T (p.Ile3029Phe)
c.265+36120A>T (n.265+36120A>T)
n.4544A>T
c.2892A>T
n.2229A>T
c.3814A>T
c.1782A>T
n.9098A>T
c.9082A>T (p.Ile3028Phe)
c.9004A>T (p.Ile3002Phe)
c.6388A>T (p.Ile2130Phe)
c.9106A>T (p.Ile3036Phe)
c.9103A>T (p.Ile3035Phe)
c.9025A>T (p.Ile3009Phe)
c.9010A>T (p.Ile3004Phe)
c.2224A>T (p.Ile742Phe)
c.2203A>T (p.Ile735Phe)
n.9101A>T
 gnomAD v4
5g.90712330T>ACA360396208ADGRV1c.9086T>A (p.Ile3029Asn)
c.265+36121T>A (n.265+36121T>A)
n.4545T>A
c.2893T>A
n.2230T>A
c.3815T>A
c.1783T>A
n.9099T>A
c.9083T>A (p.Ile3028Asn)
c.9005T>A (p.Ile3002Asn)
c.6389T>A (p.Ile2130Asn)
c.9107T>A (p.Ile3036Asn)
c.9104T>A (p.Ile3035Asn)
c.9026T>A (p.Ile3009Asn)
c.9011T>A (p.Ile3004Asn)
c.2225T>A (p.Ile742Asn)
c.2204T>A (p.Ile735Asn)
n.9102T>A
5g.90712330T>CCA360396209ADGRV1c.9086T>C (p.Ile3029Thr)
c.265+36121T>C (n.265+36121T>C)
n.4545T>C
c.2893T>C
n.2230T>C
c.3815T>C
c.1783T>C
n.9099T>C
c.9083T>C (p.Ile3028Thr)
c.9005T>C (p.Ile3002Thr)
c.6389T>C (p.Ile2130Thr)
c.9107T>C (p.Ile3036Thr)
c.9104T>C (p.Ile3035Thr)
c.9026T>C (p.Ile3009Thr)
c.9011T>C (p.Ile3004Thr)
c.2225T>C (p.Ile742Thr)
c.2204T>C (p.Ile735Thr)
n.9102T>C
5g.90712330T>GCA360396210ADGRV1c.9086T>G (p.Ile3029Ser)
c.265+36121T>G (n.265+36121T>G)
n.4545T>G
c.2893T>G
n.2230T>G
c.3815T>G
c.1783T>G
n.9099T>G
c.9083T>G (p.Ile3028Ser)
c.9005T>G (p.Ile3002Ser)
c.6389T>G (p.Ile2130Ser)
c.9107T>G (p.Ile3036Ser)
c.9104T>G (p.Ile3035Ser)
c.9026T>G (p.Ile3009Ser)
c.9011T>G (p.Ile3004Ser)
c.2225T>G (p.Ile742Ser)
c.2204T>G (p.Ile735Ser)
n.9102T>G
5g.90712331C>ACA445411843ADGRV1c.9087C>A (p.Ile3029=)
c.265+36122C>A (n.265+36122C>A)
n.4546C>A
c.2894C>A
n.2231C>A
c.3816C>A
c.1784C>A
n.9100C>A
c.9084C>A (p.Ile3028=)
c.9006C>A (p.Ile3002=)
c.6390C>A (p.Ile2130=)
c.9108C>A (p.Ile3036=)
c.9105C>A (p.Ile3035=)
c.9027C>A (p.Ile3009=)
c.9012C>A (p.Ile3004=)
c.2226C>A (p.Ile742=)
c.2205C>A (p.Ile735=)
n.9103C>A
 gnomAD v4
5g.90712331C=CA1562867534ADGRV1c.9087C= (p.Ile3029=)
c.265+36122C= (n.265+36122C=)
n.4546C=
c.2894C=
n.2231C=
c.3816C=
c.1784C=
n.9100C=
c.9084C= (p.Ile3028=)
c.9006C= (p.Ile3002=)
c.6390C= (p.Ile2130=)
c.9108C= (p.Ile3036=)
c.9105C= (p.Ile3035=)
c.9027C= (p.Ile3009=)
c.9012C= (p.Ile3004=)
c.2226C= (p.Ile742=)
c.2205C= (p.Ile735=)
n.9103C=
5g.90712331C>GCA122804752ADGRV1c.9087C>G (p.Ile3029Met)
c.265+36122C>G (n.265+36122C>G)
n.4546C>G
c.2894C>G
n.2231C>G
c.3816C>G
c.1784C>G
n.9100C>G
c.9084C>G (p.Ile3028Met)
c.9006C>G (p.Ile3002Met)
c.6390C>G (p.Ile2130Met)
c.9108C>G (p.Ile3036Met)
c.9105C>G (p.Ile3035Met)
c.9027C>G (p.Ile3009Met)
c.9012C>G (p.Ile3004Met)
c.2226C>G (p.Ile742Met)
c.2205C>G (p.Ile735Met)
n.9103C>G
 dbSNP gnomAD v3 gnomAD v4
5g.90712331C>TCA445411845ADGRV1c.9087C>T (p.Ile3029=)
c.265+36122C>T (n.265+36122C>T)
n.4546C>T
c.2894C>T
n.2231C>T
c.3816C>T
c.1784C>T
n.9100C>T
c.9084C>T (p.Ile3028=)
c.9006C>T (p.Ile3002=)
c.6390C>T (p.Ile2130=)
c.9108C>T (p.Ile3036=)
c.9105C>T (p.Ile3035=)
c.9027C>T (p.Ile3009=)
c.9012C>T (p.Ile3004=)
c.2226C>T (p.Ile742=)
c.2205C>T (p.Ile735=)
n.9103C>T
5g.90712332A=CA1562867535ADGRV1c.9088A= (p.Met3030=)
c.265+36123A= (n.265+36123A=)
n.4547A=
c.2895A=
n.2232A=
c.3817A=
c.1785A=
n.9101A=
c.9085A= (p.Met3029=)
c.9007A= (p.Met3003=)
c.6391A= (p.Met2131=)
c.9109A= (p.Met3037=)
c.9106A= (p.Met3036=)
c.9028A= (p.Met3010=)
c.9013A= (p.Met3005=)
c.2227A= (p.Met743=)
c.2206A= (p.Met736=)
n.9104A=
5g.90712332A>CCA360396211ADGRV1c.9088A>C (p.Met3030Leu)
c.265+36123A>C (n.265+36123A>C)
n.4547A>C
c.2895A>C
n.2232A>C
c.3817A>C
c.1785A>C
n.9101A>C
c.9085A>C (p.Met3029Leu)
c.9007A>C (p.Met3003Leu)
c.6391A>C (p.Met2131Leu)
c.9109A>C (p.Met3037Leu)
c.9106A>C (p.Met3036Leu)
c.9028A>C (p.Met3010Leu)
c.9013A>C (p.Met3005Leu)
c.2227A>C (p.Met743Leu)
c.2206A>C (p.Met736Leu)
n.9104A>C
5g.90712332A>GCA360396212ADGRV1c.9088A>G (p.Met3030Val)
c.265+36123A>G (n.265+36123A>G)
n.4547A>G
c.2895A>G
n.2232A>G
c.3817A>G
c.1785A>G
n.9101A>G
c.9085A>G (p.Met3029Val)
c.9007A>G (p.Met3003Val)
c.6391A>G (p.Met2131Val)
c.9109A>G (p.Met3037Val)
c.9106A>G (p.Met3036Val)
c.9028A>G (p.Met3010Val)
c.9013A>G (p.Met3005Val)
c.2227A>G (p.Met743Val)
c.2206A>G (p.Met736Val)
n.9104A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90712332A>TCA360396213ADGRV1c.9088A>T (p.Met3030Leu)
c.265+36123A>T (n.265+36123A>T)
n.4547A>T
c.2895A>T
n.2232A>T
c.3817A>T
c.1785A>T
n.9101A>T
c.9085A>T (p.Met3029Leu)
c.9007A>T (p.Met3003Leu)
c.6391A>T (p.Met2131Leu)
c.9109A>T (p.Met3037Leu)
c.9106A>T (p.Met3036Leu)
c.9028A>T (p.Met3010Leu)
c.9013A>T (p.Met3005Leu)
c.2227A>T (p.Met743Leu)
c.2206A>T (p.Met736Leu)
n.9104A>T
5g.90712333T>ACA360396216ADGRV1c.9089T>A (p.Met3030Lys)
c.265+36124T>A (n.265+36124T>A)
n.4548T>A
c.2896T>A
n.2233T>A
c.3818T>A
c.1786T>A
n.9102T>A
c.9086T>A (p.Met3029Lys)
c.9008T>A (p.Met3003Lys)
c.6392T>A (p.Met2131Lys)
c.9110T>A (p.Met3037Lys)
c.9107T>A (p.Met3036Lys)
c.9029T>A (p.Met3010Lys)
c.9014T>A (p.Met3005Lys)
c.2228T>A (p.Met743Lys)
c.2207T>A (p.Met736Lys)
n.9105T>A
5g.90712333T>CCA360396215ADGRV1c.9089T>C (p.Met3030Thr)
c.265+36124T>C (n.265+36124T>C)
n.4548T>C
c.2896T>C
n.2233T>C
c.3818T>C
c.1786T>C
n.9102T>C
c.9086T>C (p.Met3029Thr)
c.9008T>C (p.Met3003Thr)
c.6392T>C (p.Met2131Thr)
c.9110T>C (p.Met3037Thr)
c.9107T>C (p.Met3036Thr)
c.9029T>C (p.Met3010Thr)
c.9014T>C (p.Met3005Thr)
c.2228T>C (p.Met743Thr)
c.2207T>C (p.Met736Thr)
n.9105T>C
 gnomAD v4
5g.90712333T>GCA360396214ADGRV1c.9089T>G (p.Met3030Arg)
c.265+36124T>G (n.265+36124T>G)
n.4548T>G
c.2896T>G
n.2233T>G
c.3818T>G
c.1786T>G
n.9102T>G
c.9086T>G (p.Met3029Arg)
c.9008T>G (p.Met3003Arg)
c.6392T>G (p.Met2131Arg)
c.9110T>G (p.Met3037Arg)
c.9107T>G (p.Met3036Arg)
c.9029T>G (p.Met3010Arg)
c.9014T>G (p.Met3005Arg)
c.2228T>G (p.Met743Arg)
c.2207T>G (p.Met736Arg)
n.9105T>G
5g.90712334G>ACA360396217ADGRV1c.9090G>A (p.Met3030Ile)
c.265+36125G>A (n.265+36125G>A)
n.4549G>A
c.2897G>A
n.2234G>A
c.3819G>A
c.1787G>A
n.9103G>A
c.9087G>A (p.Met3029Ile)
c.9009G>A (p.Met3003Ile)
c.6393G>A (p.Met2131Ile)
c.9111G>A (p.Met3037Ile)
c.9108G>A (p.Met3036Ile)
c.9030G>A (p.Met3010Ile)
c.9015G>A (p.Met3005Ile)
c.2229G>A (p.Met743Ile)
c.2208G>A (p.Met736Ile)
n.9106G>A
 gnomAD v4
5g.90712334G>CCA360396218ADGRV1c.9090G>C (p.Met3030Ile)
c.265+36125G>C (n.265+36125G>C)
n.4549G>C
c.2897G>C
n.2234G>C
c.3819G>C
c.1787G>C
n.9103G>C
c.9087G>C (p.Met3029Ile)
c.9009G>C (p.Met3003Ile)
c.6393G>C (p.Met2131Ile)
c.9111G>C (p.Met3037Ile)
c.9108G>C (p.Met3036Ile)
c.9030G>C (p.Met3010Ile)
c.9015G>C (p.Met3005Ile)
c.2229G>C (p.Met743Ile)
c.2208G>C (p.Met736Ile)
n.9106G>C
5g.90712334G>TCA360396219ADGRV1c.9090G>T (p.Met3030Ile)
c.265+36125G>T (n.265+36125G>T)
n.4549G>T
c.2897G>T
n.2234G>T
c.3819G>T
c.1787G>T
n.9103G>T
c.9087G>T (p.Met3029Ile)
c.9009G>T (p.Met3003Ile)
c.6393G>T (p.Met2131Ile)
c.9111G>T (p.Met3037Ile)
c.9108G>T (p.Met3036Ile)
c.9030G>T (p.Met3010Ile)
c.9015G>T (p.Met3005Ile)
c.2229G>T (p.Met743Ile)
c.2208G>T (p.Met736Ile)
n.9106G>T
 gnomAD v4
5g.90712335A>CCA360396220ADGRV1c.9091A>C (p.Ile3031Leu)
c.265+36126A>C (n.265+36126A>C)
n.4550A>C
c.2898A>C
n.2235A>C
c.3820A>C
c.1788A>C
n.9104A>C
c.9088A>C (p.Ile3030Leu)
c.9010A>C (p.Ile3004Leu)
c.6394A>C (p.Ile2132Leu)
c.9112A>C (p.Ile3038Leu)
c.9109A>C (p.Ile3037Leu)
c.9031A>C (p.Ile3011Leu)
c.9016A>C (p.Ile3006Leu)
c.2230A>C (p.Ile744Leu)
c.2209A>C (p.Ile737Leu)
n.9107A>C
5g.90712335A>GCA360396221ADGRV1c.9091A>G (p.Ile3031Val)
c.265+36126A>G (n.265+36126A>G)
n.4550A>G
c.2898A>G
n.2235A>G
c.3820A>G
c.1788A>G
n.9104A>G
c.9088A>G (p.Ile3030Val)
c.9010A>G (p.Ile3004Val)
c.6394A>G (p.Ile2132Val)
c.9112A>G (p.Ile3038Val)
c.9109A>G (p.Ile3037Val)
c.9031A>G (p.Ile3011Val)
c.9016A>G (p.Ile3006Val)
c.2230A>G (p.Ile744Val)
c.2209A>G (p.Ile737Val)
n.9107A>G
5g.90712335A>TCA360396222ADGRV1c.9091A>T (p.Ile3031Phe)
c.265+36126A>T (n.265+36126A>T)
n.4550A>T
c.2898A>T
n.2235A>T
c.3820A>T
c.1788A>T
n.9104A>T
c.9088A>T (p.Ile3030Phe)
c.9010A>T (p.Ile3004Phe)
c.6394A>T (p.Ile2132Phe)
c.9112A>T (p.Ile3038Phe)
c.9109A>T (p.Ile3037Phe)
c.9031A>T (p.Ile3011Phe)
c.9016A>T (p.Ile3006Phe)
c.2230A>T (p.Ile744Phe)
c.2209A>T (p.Ile737Phe)
n.9107A>T
5g.90712336T>ACA360396223ADGRV1c.9092T>A (p.Ile3031Asn)
c.265+36127T>A (n.265+36127T>A)
n.4551T>A
c.2899T>A
n.2236T>A
c.3821T>A
c.1789T>A
n.9105T>A
c.9089T>A (p.Ile3030Asn)
c.9011T>A (p.Ile3004Asn)
c.6395T>A (p.Ile2132Asn)
c.9113T>A (p.Ile3038Asn)
c.9110T>A (p.Ile3037Asn)
c.9032T>A (p.Ile3011Asn)
c.9017T>A (p.Ile3006Asn)
c.2231T>A (p.Ile744Asn)
c.2210T>A (p.Ile737Asn)
n.9108T>A
5g.90712336T>CCA360396224ADGRV1c.9092T>C (p.Ile3031Thr)
c.265+36127T>C (n.265+36127T>C)
n.4551T>C
c.2899T>C
n.2236T>C
c.3821T>C
c.1789T>C
n.9105T>C
c.9089T>C (p.Ile3030Thr)
c.9011T>C (p.Ile3004Thr)
c.6395T>C (p.Ile2132Thr)
c.9113T>C (p.Ile3038Thr)
c.9110T>C (p.Ile3037Thr)
c.9032T>C (p.Ile3011Thr)
c.9017T>C (p.Ile3006Thr)
c.2231T>C (p.Ile744Thr)
c.2210T>C (p.Ile737Thr)
n.9108T>C
 gnomAD v4
5g.90712336T>GCA360396225ADGRV1c.9092T>G (p.Ile3031Ser)
c.265+36127T>G (n.265+36127T>G)
n.4551T>G
c.2899T>G
n.2236T>G
c.3821T>G
c.1789T>G
n.9105T>G
c.9089T>G (p.Ile3030Ser)
c.9011T>G (p.Ile3004Ser)
c.6395T>G (p.Ile2132Ser)
c.9113T>G (p.Ile3038Ser)
c.9110T>G (p.Ile3037Ser)
c.9032T>G (p.Ile3011Ser)
c.9017T>G (p.Ile3006Ser)
c.2231T>G (p.Ile744Ser)
c.2210T>G (p.Ile737Ser)
n.9108T>G
5g.90712337T>ACA445411858ADGRV1c.9093T>A (p.Ile3031=)
c.265+36128T>A (n.265+36128T>A)
n.4552T>A
c.2900T>A
n.2237T>A
c.3822T>A
c.1790T>A
n.9106T>A
c.9090T>A (p.Ile3030=)
c.9012T>A (p.Ile3004=)
c.6396T>A (p.Ile2132=)
c.9114T>A (p.Ile3038=)
c.9111T>A (p.Ile3037=)
c.9033T>A (p.Ile3011=)
c.9018T>A (p.Ile3006=)
c.2232T>A (p.Ile744=)
c.2211T>A (p.Ile737=)
n.9109T>A
5g.90712337T>CCA445411861ADGRV1c.9093T>C (p.Ile3031=)
c.265+36128T>C (n.265+36128T>C)
n.4552T>C
c.2900T>C
n.2237T>C
c.3822T>C
c.1790T>C
n.9106T>C
c.9090T>C (p.Ile3030=)
c.9012T>C (p.Ile3004=)
c.6396T>C (p.Ile2132=)
c.9114T>C (p.Ile3038=)
c.9111T>C (p.Ile3037=)
c.9033T>C (p.Ile3011=)
c.9018T>C (p.Ile3006=)
c.2232T>C (p.Ile744=)
c.2211T>C (p.Ile737=)
n.9109T>C
 gnomAD v4
5g.90712337T>GCA360396226ADGRV1c.9093T>G (p.Ile3031Met)
c.265+36128T>G (n.265+36128T>G)
n.4552T>G
c.2900T>G
n.2237T>G
c.3822T>G
c.1790T>G
n.9106T>G
c.9090T>G (p.Ile3030Met)
c.9012T>G (p.Ile3004Met)
c.6396T>G (p.Ile2132Met)
c.9114T>G (p.Ile3038Met)
c.9111T>G (p.Ile3037Met)
c.9033T>G (p.Ile3011Met)
c.9018T>G (p.Ile3006Met)
c.2232T>G (p.Ile744Met)
c.2211T>G (p.Ile737Met)
n.9109T>G
5g.90712338C>ACA360396227ADGRV1c.9094C>A (p.Leu3032Ile)
c.265+36129C>A (n.265+36129C>A)
n.4553C>A
c.2901C>A
n.2238C>A
c.3823C>A
c.1791C>A
n.9107C>A
c.9091C>A (p.Leu3031Ile)
c.9013C>A (p.Leu3005Ile)
c.6397C>A (p.Leu2133Ile)
c.9115C>A (p.Leu3039Ile)
c.9112C>A (p.Leu3038Ile)
c.9034C>A (p.Leu3012Ile)
c.9019C>A (p.Leu3007Ile)
c.2233C>A (p.Leu745Ile)
c.2212C>A (p.Leu738Ile)
n.9110C>A
 gnomAD v4 COSMIC
5g.90712338C>GCA360396228ADGRV1c.9094C>G (p.Leu3032Val)
c.265+36129C>G (n.265+36129C>G)
n.4553C>G
c.2901C>G
n.2238C>G
c.3823C>G
c.1791C>G
n.9107C>G
c.9091C>G (p.Leu3031Val)
c.9013C>G (p.Leu3005Val)
c.6397C>G (p.Leu2133Val)
c.9115C>G (p.Leu3039Val)
c.9112C>G (p.Leu3038Val)
c.9034C>G (p.Leu3012Val)
c.9019C>G (p.Leu3007Val)
c.2233C>G (p.Leu745Val)
c.2212C>G (p.Leu738Val)
n.9110C>G
5g.90712338C>TCA360396229ADGRV1c.9094C>T (p.Leu3032Phe)
c.265+36129C>T (n.265+36129C>T)
n.4553C>T
c.2901C>T
n.2238C>T
c.3823C>T
c.1791C>T
n.9107C>T
c.9091C>T (p.Leu3031Phe)
c.9013C>T (p.Leu3005Phe)
c.6397C>T (p.Leu2133Phe)
c.9115C>T (p.Leu3039Phe)
c.9112C>T (p.Leu3038Phe)
c.9034C>T (p.Leu3012Phe)
c.9019C>T (p.Leu3007Phe)
c.2233C>T (p.Leu745Phe)
c.2212C>T (p.Leu738Phe)
n.9110C>T
 COSMIC
5g.90712339T>ACA360396232ADGRV1c.9095T>A (p.Leu3032His)
c.265+36130T>A (n.265+36130T>A)
n.4554T>A
c.2902T>A
n.2239T>A
c.3824T>A
c.1792T>A
n.9108T>A
c.9092T>A (p.Leu3031His)
c.9014T>A (p.Leu3005His)
c.6398T>A (p.Leu2133His)
c.9116T>A (p.Leu3039His)
c.9113T>A (p.Leu3038His)
c.9035T>A (p.Leu3012His)
c.9020T>A (p.Leu3007His)
c.2234T>A (p.Leu745His)
c.2213T>A (p.Leu738His)
n.9111T>A
5g.90712339T>CCA360396230ADGRV1c.9095T>C (p.Leu3032Pro)
c.265+36130T>C (n.265+36130T>C)
n.4554T>C
c.2902T>C
n.2239T>C
c.3824T>C
c.1792T>C
n.9108T>C
c.9092T>C (p.Leu3031Pro)
c.9014T>C (p.Leu3005Pro)
c.6398T>C (p.Leu2133Pro)
c.9116T>C (p.Leu3039Pro)
c.9113T>C (p.Leu3038Pro)
c.9035T>C (p.Leu3012Pro)
c.9020T>C (p.Leu3007Pro)
c.2234T>C (p.Leu745Pro)
c.2213T>C (p.Leu738Pro)
n.9111T>C
 gnomAD v4
5g.90712339T>GCA360396231ADGRV1c.9095T>G (p.Leu3032Arg)
c.265+36130T>G (n.265+36130T>G)
n.4554T>G
c.2902T>G
n.2239T>G
c.3824T>G
c.1792T>G
n.9108T>G
c.9092T>G (p.Leu3031Arg)
c.9014T>G (p.Leu3005Arg)
c.6398T>G (p.Leu2133Arg)
c.9116T>G (p.Leu3039Arg)
c.9113T>G (p.Leu3038Arg)
c.9035T>G (p.Leu3012Arg)
c.9020T>G (p.Leu3007Arg)
c.2234T>G (p.Leu745Arg)
c.2213T>G (p.Leu738Arg)
n.9111T>G
 dbSNP
5g.90712340delCA2674570097ADGRV1c.9096del (p.Asp3033MetfsTer13)
c.265+36131del (n.265+36131del)
n.4555del
c.2903del
n.2240del
c.3825del
c.1793del
n.9109del
c.9093del (p.Asp3032MetfsTer13)
c.9015del (p.Asp3006MetfsTer13)
c.6399del (p.Asp2134MetfsTer13)
c.9117del (p.Asp3040MetfsTer13)
c.9114del (p.Asp3039MetfsTer13)
c.9036del (p.Asp3013MetfsTer13)
c.9021del (p.Asp3008MetfsTer13)
c.2235del (p.Asp746MetfsTer13)
c.2214del (p.Asp739MetfsTer13)
n.9112del
 gnomAD v4
5g.90712340T>ACA445411871ADGRV1c.9096T>A (p.Leu3032=)
c.265+36131T>A (n.265+36131T>A)
n.4555T>A
c.2903T>A
n.2240T>A
c.3825T>A
c.1793T>A
n.9109T>A
c.9093T>A (p.Leu3031=)
c.9015T>A (p.Leu3005=)
c.6399T>A (p.Leu2133=)
c.9117T>A (p.Leu3039=)
c.9114T>A (p.Leu3038=)
c.9036T>A (p.Leu3012=)
c.9021T>A (p.Leu3007=)
c.2235T>A (p.Leu745=)
c.2214T>A (p.Leu738=)
n.9112T>A
5g.90712340T>CCA445411867ADGRV1c.9096T>C (p.Leu3032=)
c.265+36131T>C (n.265+36131T>C)
n.4555T>C
c.2903T>C
n.2240T>C
c.3825T>C
c.1793T>C
n.9109T>C
c.9093T>C (p.Leu3031=)
c.9015T>C (p.Leu3005=)
c.6399T>C (p.Leu2133=)
c.9117T>C (p.Leu3039=)
c.9114T>C (p.Leu3038=)
c.9036T>C (p.Leu3012=)
c.9021T>C (p.Leu3007=)
c.2235T>C (p.Leu745=)
c.2214T>C (p.Leu738=)
n.9112T>C
 gnomAD v4
5g.90712340T>GCA445411869ADGRV1c.9096T>G (p.Leu3032=)
c.265+36131T>G (n.265+36131T>G)
n.4555T>G
c.2903T>G
n.2240T>G
c.3825T>G
c.1793T>G
n.9109T>G
c.9093T>G (p.Leu3031=)
c.9015T>G (p.Leu3005=)
c.6399T>G (p.Leu2133=)
c.9117T>G (p.Leu3039=)
c.9114T>G (p.Leu3038=)
c.9036T>G (p.Leu3012=)
c.9021T>G (p.Leu3007=)
c.2235T>G (p.Leu745=)
c.2214T>G (p.Leu738=)
n.9112T>G
 gnomAD v4
5g.90712341G>ACA360396233ADGRV1c.9097G>A (p.Asp3033Asn)
c.265+36132G>A (n.265+36132G>A)
n.4556G>A
c.2904G>A
n.2241G>A
c.3826G>A
c.1794G>A
n.9110G>A
c.9094G>A (p.Asp3032Asn)
c.9016G>A (p.Asp3006Asn)
c.6400G>A (p.Asp2134Asn)
c.9118G>A (p.Asp3040Asn)
c.9115G>A (p.Asp3039Asn)
c.9037G>A (p.Asp3013Asn)
c.9022G>A (p.Asp3008Asn)
c.2236G>A (p.Asp746Asn)
c.2215G>A (p.Asp739Asn)
n.9113G>A
 gnomAD v4
5g.90712341G>CCA360396234ADGRV1c.9097G>C (p.Asp3033His)
c.265+36132G>C (n.265+36132G>C)
n.4556G>C
c.2904G>C
n.2241G>C
c.3826G>C
c.1794G>C
n.9110G>C
c.9094G>C (p.Asp3032His)
c.9016G>C (p.Asp3006His)
c.6400G>C (p.Asp2134His)
c.9118G>C (p.Asp3040His)
c.9115G>C (p.Asp3039His)
c.9037G>C (p.Asp3013His)
c.9022G>C (p.Asp3008His)
c.2236G>C (p.Asp746His)
c.2215G>C (p.Asp739His)
n.9113G>C
5g.90712341G>TCA360396235ADGRV1c.9097G>T (p.Asp3033Tyr)
c.265+36132G>T (n.265+36132G>T)
n.4556G>T
c.2904G>T
n.2241G>T
c.3826G>T
c.1794G>T
n.9110G>T
c.9094G>T (p.Asp3032Tyr)
c.9016G>T (p.Asp3006Tyr)
c.6400G>T (p.Asp2134Tyr)
c.9118G>T (p.Asp3040Tyr)
c.9115G>T (p.Asp3039Tyr)
c.9037G>T (p.Asp3013Tyr)
c.9022G>T (p.Asp3008Tyr)
c.2236G>T (p.Asp746Tyr)
c.2215G>T (p.Asp739Tyr)
n.9113G>T
 gnomAD v4
5g.90712342A=CA1562867536ADGRV1c.9098A= (p.Asp3033=)
c.265+36133A= (n.265+36133A=)
n.4557A=
c.2905A=
n.2242A=
c.3827A=
c.1795A=
n.9111A=
c.9095A= (p.Asp3032=)
c.9017A= (p.Asp3006=)
c.6401A= (p.Asp2134=)
c.9119A= (p.Asp3040=)
c.9116A= (p.Asp3039=)
c.9038A= (p.Asp3013=)
c.9023A= (p.Asp3008=)
c.2237A= (p.Asp746=)
c.2216A= (p.Asp739=)
n.9114A=
5g.90712342A>CCA360396236ADGRV1c.9098A>C (p.Asp3033Ala)
c.265+36133A>C (n.265+36133A>C)
n.4557A>C
c.2905A>C
n.2242A>C
c.3827A>C
c.1795A>C
n.9111A>C
c.9095A>C (p.Asp3032Ala)
c.9017A>C (p.Asp3006Ala)
c.6401A>C (p.Asp2134Ala)
c.9119A>C (p.Asp3040Ala)
c.9116A>C (p.Asp3039Ala)
c.9038A>C (p.Asp3013Ala)
c.9023A>C (p.Asp3008Ala)
c.2237A>C (p.Asp746Ala)
c.2216A>C (p.Asp739Ala)
n.9114A>C
5g.90712342A>GCA3340443ADGRV1c.9098A>G (p.Asp3033Gly)
c.265+36133A>G (n.265+36133A>G)
n.4557A>G
c.2905A>G
n.2242A>G
c.3827A>G
c.1795A>G
n.9111A>G
c.9095A>G (p.Asp3032Gly)
c.9017A>G (p.Asp3006Gly)
c.6401A>G (p.Asp2134Gly)
c.9119A>G (p.Asp3040Gly)
c.9116A>G (p.Asp3039Gly)
c.9038A>G (p.Asp3013Gly)
c.9023A>G (p.Asp3008Gly)
c.2237A>G (p.Asp746Gly)
c.2216A>G (p.Asp739Gly)
n.9114A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90712342A>TCA360396237ADGRV1c.9098A>T (p.Asp3033Val)
c.265+36133A>T (n.265+36133A>T)
n.4557A>T
c.2905A>T
n.2242A>T
c.3827A>T
c.1795A>T
n.9111A>T
c.9095A>T (p.Asp3032Val)
c.9017A>T (p.Asp3006Val)
c.6401A>T (p.Asp2134Val)
c.9119A>T (p.Asp3040Val)
c.9116A>T (p.Asp3039Val)
c.9038A>T (p.Asp3013Val)
c.9023A>T (p.Asp3008Val)
c.2237A>T (p.Asp746Val)
c.2216A>T (p.Asp739Val)
n.9114A>T
5g.90712343T>ACA360396238ADGRV1c.9099T>A (p.Asp3033Glu)
c.265+36134T>A (n.265+36134T>A)
n.4558T>A
c.2906T>A
n.2243T>A
c.3828T>A
c.1796T>A
n.9112T>A
c.9096T>A (p.Asp3032Glu)
c.9018T>A (p.Asp3006Glu)
c.6402T>A (p.Asp2134Glu)
c.9120T>A (p.Asp3040Glu)
c.9117T>A (p.Asp3039Glu)
c.9039T>A (p.Asp3013Glu)
c.9024T>A (p.Asp3008Glu)
c.2238T>A (p.Asp746Glu)
c.2217T>A (p.Asp739Glu)
n.9115T>A
5g.90712343T>CCA445411879ADGRV1c.9099T>C (p.Asp3033=)
c.265+36134T>C (n.265+36134T>C)
n.4558T>C
c.2906T>C
n.2243T>C
c.3828T>C
c.1796T>C
n.9112T>C
c.9096T>C (p.Asp3032=)
c.9018T>C (p.Asp3006=)
c.6402T>C (p.Asp2134=)
c.9120T>C (p.Asp3040=)
c.9117T>C (p.Asp3039=)
c.9039T>C (p.Asp3013=)
c.9024T>C (p.Asp3008=)
c.2238T>C (p.Asp746=)
c.2217T>C (p.Asp739=)
n.9115T>C
5g.90712343T>GCA360396239ADGRV1c.9099T>G (p.Asp3033Glu)
c.265+36134T>G (n.265+36134T>G)
n.4558T>G
c.2906T>G
n.2243T>G
c.3828T>G
c.1796T>G
n.9112T>G
c.9096T>G (p.Asp3032Glu)
c.9018T>G (p.Asp3006Glu)
c.6402T>G (p.Asp2134Glu)
c.9120T>G (p.Asp3040Glu)
c.9117T>G (p.Asp3039Glu)
c.9039T>G (p.Asp3013Glu)
c.9024T>G (p.Asp3008Glu)
c.2238T>G (p.Asp746Glu)
c.2217T>G (p.Asp739Glu)
n.9115T>G
5g.90712344G>ACA360396240ADGRV1c.9100G>A (p.Asp3034Asn)
c.265+36135G>A (n.265+36135G>A)
n.4559G>A
c.2907G>A
n.2244G>A
c.3829G>A
c.1797G>A
n.9113G>A
c.9097G>A (p.Asp3033Asn)
c.9019G>A (p.Asp3007Asn)
c.6403G>A (p.Asp2135Asn)
c.9121G>A (p.Asp3041Asn)
c.9118G>A (p.Asp3040Asn)
c.9040G>A (p.Asp3014Asn)
c.9025G>A (p.Asp3009Asn)
c.2239G>A (p.Asp747Asn)
c.2218G>A (p.Asp740Asn)
n.9116G>A
5g.90712344G>CCA360396241ADGRV1c.9100G>C (p.Asp3034His)
c.265+36135G>C (n.265+36135G>C)
n.4559G>C
c.2907G>C
n.2244G>C
c.3829G>C
c.1797G>C
n.9113G>C
c.9097G>C (p.Asp3033His)
c.9019G>C (p.Asp3007His)
c.6403G>C (p.Asp2135His)
c.9121G>C (p.Asp3041His)
c.9118G>C (p.Asp3040His)
c.9040G>C (p.Asp3014His)
c.9025G>C (p.Asp3009His)
c.2239G>C (p.Asp747His)
c.2218G>C (p.Asp740His)
n.9116G>C
5g.90712344G>TCA360396242ADGRV1c.9100G>T (p.Asp3034Tyr)
c.265+36135G>T (n.265+36135G>T)
n.4559G>T
c.2907G>T
n.2244G>T
c.3829G>T
c.1797G>T
n.9113G>T
c.9097G>T (p.Asp3033Tyr)
c.9019G>T (p.Asp3007Tyr)
c.6403G>T (p.Asp2135Tyr)
c.9121G>T (p.Asp3041Tyr)
c.9118G>T (p.Asp3040Tyr)
c.9040G>T (p.Asp3014Tyr)
c.9025G>T (p.Asp3009Tyr)
c.2239G>T (p.Asp747Tyr)
c.2218G>T (p.Asp740Tyr)
n.9116G>T
5g.90712345A=CA1562867537ADGRV1c.9101A= (p.Asp3034=)
c.265+36136A= (n.265+36136A=)
n.4560A=
c.2908A=
n.2245A=
c.3830A=
c.1798A=
n.9114A=
c.9098A= (p.Asp3033=)
c.9020A= (p.Asp3007=)
c.6404A= (p.Asp2135=)
c.9122A= (p.Asp3041=)
c.9119A= (p.Asp3040=)
c.9041A= (p.Asp3014=)
c.9026A= (p.Asp3009=)
c.2240A= (p.Asp747=)
c.2219A= (p.Asp740=)
n.9117A=
5g.90712345A>CCA360396245ADGRV1c.9101A>C (p.Asp3034Ala)
c.265+36136A>C (n.265+36136A>C)
n.4560A>C
c.2908A>C
n.2245A>C
c.3830A>C
c.1798A>C
n.9114A>C
c.9098A>C (p.Asp3033Ala)
c.9020A>C (p.Asp3007Ala)
c.6404A>C (p.Asp2135Ala)
c.9122A>C (p.Asp3041Ala)
c.9119A>C (p.Asp3040Ala)
c.9041A>C (p.Asp3014Ala)
c.9026A>C (p.Asp3009Ala)
c.2240A>C (p.Asp747Ala)
c.2219A>C (p.Asp740Ala)
n.9117A>C
5g.90712345A>GCA360396244ADGRV1c.9101A>G (p.Asp3034Gly)
c.265+36136A>G (n.265+36136A>G)
n.4560A>G
c.2908A>G
n.2245A>G
c.3830A>G
c.1798A>G
n.9114A>G
c.9098A>G (p.Asp3033Gly)
c.9020A>G (p.Asp3007Gly)
c.6404A>G (p.Asp2135Gly)
c.9122A>G (p.Asp3041Gly)
c.9119A>G (p.Asp3040Gly)
c.9041A>G (p.Asp3014Gly)
c.9026A>G (p.Asp3009Gly)
c.2240A>G (p.Asp747Gly)
c.2219A>G (p.Asp740Gly)
n.9117A>G
5g.90712345A>TCA360396243ADGRV1c.9101A>T (p.Asp3034Val)
c.265+36136A>T (n.265+36136A>T)
n.4560A>T
c.2908A>T
n.2245A>T
c.3830A>T
c.1798A>T
n.9114A>T
c.9098A>T (p.Asp3033Val)
c.9020A>T (p.Asp3007Val)
c.6404A>T (p.Asp2135Val)
c.9122A>T (p.Asp3041Val)
c.9119A>T (p.Asp3040Val)
c.9041A>T (p.Asp3014Val)
c.9026A>T (p.Asp3009Val)
c.2240A>T (p.Asp747Val)
c.2219A>T (p.Asp740Val)
n.9117A>T
 dbSNP gnomAD v2
5g.90712346T>ACA360396246ADGRV1c.9102T>A (p.Asp3034Glu)
c.265+36137T>A (n.265+36137T>A)
n.4561T>A
c.2909T>A
n.2246T>A
c.3831T>A
c.1799T>A
n.9115T>A
c.9099T>A (p.Asp3033Glu)
c.9021T>A (p.Asp3007Glu)
c.6405T>A (p.Asp2135Glu)
c.9123T>A (p.Asp3041Glu)
c.9120T>A (p.Asp3040Glu)
c.9042T>A (p.Asp3014Glu)
c.9027T>A (p.Asp3009Glu)
c.2241T>A (p.Asp747Glu)
c.2220T>A (p.Asp740Glu)
n.9118T>A
 gnomAD v4
5g.90712346T>CCA122804756ADGRV1c.9102T>C (p.Asp3034=)
c.265+36137T>C (n.265+36137T>C)
n.4561T>C
c.2909T>C
n.2246T>C
c.3831T>C
c.1799T>C
n.9115T>C
c.9099T>C (p.Asp3033=)
c.9021T>C (p.Asp3007=)
c.6405T>C (p.Asp2135=)
c.9123T>C (p.Asp3041=)
c.9120T>C (p.Asp3040=)
c.9042T>C (p.Asp3014=)
c.9027T>C (p.Asp3009=)
c.2241T>C (p.Asp747=)
c.2220T>C (p.Asp740=)
n.9118T>C
 dbSNP
5g.90712346T>GCA360396247ADGRV1c.9102T>G (p.Asp3034Glu)
c.265+36137T>G (n.265+36137T>G)
n.4561T>G
c.2909T>G
n.2246T>G
c.3831T>G
c.1799T>G
n.9115T>G
c.9099T>G (p.Asp3033Glu)
c.9021T>G (p.Asp3007Glu)
c.6405T>G (p.Asp2135Glu)
c.9123T>G (p.Asp3041Glu)
c.9120T>G (p.Asp3040Glu)
c.9042T>G (p.Asp3014Glu)
c.9027T>G (p.Asp3009Glu)
c.2241T>G (p.Asp747Glu)
c.2220T>G (p.Asp740Glu)
n.9118T>G
5g.90712346T=CA1562867538ADGRV1c.9102T= (p.Asp3034=)
c.265+36137T= (n.265+36137T=)
n.4561T=
c.2909T=
n.2246T=
c.3831T=
c.1799T=
n.9115T=
c.9099T= (p.Asp3033=)
c.9021T= (p.Asp3007=)
c.6405T= (p.Asp2135=)
c.9123T= (p.Asp3041=)
c.9120T= (p.Asp3040=)
c.9042T= (p.Asp3014=)
c.9027T= (p.Asp3009=)
c.2241T= (p.Asp747=)
c.2220T= (p.Asp740=)
n.9118T=
5g.90712347G>ACA360396248ADGRV1c.9103G>A (p.Asp3035Asn)
c.265+36138G>A (n.265+36138G>A)
n.4562G>A
c.2910G>A
n.2247G>A
c.3832G>A
c.1800G>A
n.9116G>A
c.9100G>A (p.Asp3034Asn)
c.9022G>A (p.Asp3008Asn)
c.6406G>A (p.Asp2136Asn)
c.9124G>A (p.Asp3042Asn)
c.9121G>A (p.Asp3041Asn)
c.9043G>A (p.Asp3015Asn)
c.9028G>A (p.Asp3010Asn)
c.2242G>A (p.Asp748Asn)
c.2221G>A (p.Asp741Asn)
n.9119G>A
 gnomAD v4
5g.90712347G>CCA360396250ADGRV1c.9103G>C (p.Asp3035His)
c.265+36138G>C (n.265+36138G>C)
n.4562G>C
c.2910G>C
n.2247G>C
c.3832G>C
c.1800G>C
n.9116G>C
c.9100G>C (p.Asp3034His)
c.9022G>C (p.Asp3008His)
c.6406G>C (p.Asp2136His)
c.9124G>C (p.Asp3042His)
c.9121G>C (p.Asp3041His)
c.9043G>C (p.Asp3015His)
c.9028G>C (p.Asp3010His)
c.2242G>C (p.Asp748His)
c.2221G>C (p.Asp741His)
n.9119G>C
5g.90712347G>TCA360396249ADGRV1c.9103G>T (p.Asp3035Tyr)
c.265+36138G>T (n.265+36138G>T)
n.4562G>T
c.2910G>T
n.2247G>T
c.3832G>T
c.1800G>T
n.9116G>T
c.9100G>T (p.Asp3034Tyr)
c.9022G>T (p.Asp3008Tyr)
c.6406G>T (p.Asp2136Tyr)
c.9124G>T (p.Asp3042Tyr)
c.9121G>T (p.Asp3041Tyr)
c.9043G>T (p.Asp3015Tyr)
c.9028G>T (p.Asp3010Tyr)
c.2242G>T (p.Asp748Tyr)
c.2221G>T (p.Asp741Tyr)
n.9119G>T
 gnomAD v4
5g.90712348A>CCA360396251ADGRV1c.9104A>C (p.Asp3035Ala)
c.265+36139A>C (n.265+36139A>C)
n.4563A>C
c.2911A>C
n.2248A>C
c.3833A>C
c.1801A>C
n.9117A>C
c.9101A>C (p.Asp3034Ala)
c.9023A>C (p.Asp3008Ala)
c.6407A>C (p.Asp2136Ala)
c.9125A>C (p.Asp3042Ala)
c.9122A>C (p.Asp3041Ala)
c.9044A>C (p.Asp3015Ala)
c.9029A>C (p.Asp3010Ala)
c.2243A>C (p.Asp748Ala)
c.2222A>C (p.Asp741Ala)
n.9120A>C
5g.90712348A>GCA360396253ADGRV1c.9104A>G (p.Asp3035Gly)
c.265+36139A>G (n.265+36139A>G)
n.4563A>G
c.2911A>G
n.2248A>G
c.3833A>G
c.1801A>G
n.9117A>G
c.9101A>G (p.Asp3034Gly)
c.9023A>G (p.Asp3008Gly)
c.6407A>G (p.Asp2136Gly)
c.9125A>G (p.Asp3042Gly)
c.9122A>G (p.Asp3041Gly)
c.9044A>G (p.Asp3015Gly)
c.9029A>G (p.Asp3010Gly)
c.2243A>G (p.Asp748Gly)
c.2222A>G (p.Asp741Gly)
n.9120A>G
 gnomAD v4
5g.90712348A>TCA360396252ADGRV1c.9104A>T (p.Asp3035Val)
c.265+36139A>T (n.265+36139A>T)
n.4563A>T
c.2911A>T
n.2248A>T
c.3833A>T
c.1801A>T
n.9117A>T
c.9101A>T (p.Asp3034Val)
c.9023A>T (p.Asp3008Val)
c.6407A>T (p.Asp2136Val)
c.9125A>T (p.Asp3042Val)
c.9122A>T (p.Asp3041Val)
c.9044A>T (p.Asp3015Val)
c.9029A>T (p.Asp3010Val)
c.2243A>T (p.Asp748Val)
c.2222A>T (p.Asp741Val)
n.9120A>T
5g.90712349C>ACA360396254ADGRV1c.9105C>A (p.Asp3035Glu)
c.265+36140C>A (n.265+36140C>A)
n.4564C>A
c.2912C>A
n.2249C>A
c.3834C>A
c.1802C>A
n.9118C>A
c.9102C>A (p.Asp3034Glu)
c.9024C>A (p.Asp3008Glu)
c.6408C>A (p.Asp2136Glu)
c.9126C>A (p.Asp3042Glu)
c.9123C>A (p.Asp3041Glu)
c.9045C>A (p.Asp3015Glu)
c.9030C>A (p.Asp3010Glu)
c.2244C>A (p.Asp748Glu)
c.2223C>A (p.Asp741Glu)
n.9121C>A
5g.90712349C>GCA360396255ADGRV1c.9105C>G (p.Asp3035Glu)
c.265+36140C>G (n.265+36140C>G)
n.4564C>G
c.2912C>G
n.2249C>G
c.3834C>G
c.1802C>G
n.9118C>G
c.9102C>G (p.Asp3034Glu)
c.9024C>G (p.Asp3008Glu)
c.6408C>G (p.Asp2136Glu)
c.9126C>G (p.Asp3042Glu)
c.9123C>G (p.Asp3041Glu)
c.9045C>G (p.Asp3015Glu)
c.9030C>G (p.Asp3010Glu)
c.2244C>G (p.Asp748Glu)
c.2223C>G (p.Asp741Glu)
n.9121C>G
5g.90712349C>TCA445411896ADGRV1c.9105C>T (p.Asp3035=)
c.265+36140C>T (n.265+36140C>T)
n.4564C>T
c.2912C>T
n.2249C>T
c.3834C>T
c.1802C>T
n.9118C>T
c.9102C>T (p.Asp3034=)
c.9024C>T (p.Asp3008=)
c.6408C>T (p.Asp2136=)
c.9126C>T (p.Asp3042=)
c.9123C>T (p.Asp3041=)
c.9045C>T (p.Asp3015=)
c.9030C>T (p.Asp3010=)
c.2244C>T (p.Asp748=)
c.2223C>T (p.Asp741=)
n.9121C>T
 dbSNP gnomAD v4
5g.90712350A>CCA360396256ADGRV1c.9106A>C (p.Ile3036Leu)
c.265+36141A>C (n.265+36141A>C)
n.4565A>C
c.2913A>C
n.2250A>C
c.3835A>C
c.1803A>C
n.9119A>C
c.9103A>C (p.Ile3035Leu)
c.9025A>C (p.Ile3009Leu)
c.6409A>C (p.Ile2137Leu)
c.9127A>C (p.Ile3043Leu)
c.9124A>C (p.Ile3042Leu)
c.9046A>C (p.Ile3016Leu)
c.9031A>C (p.Ile3011Leu)
c.2245A>C (p.Ile749Leu)
c.2224A>C (p.Ile742Leu)
n.9122A>C
5g.90712350A>GCA360396258ADGRV1c.9106A>G (p.Ile3036Val)
c.265+36141A>G (n.265+36141A>G)
n.4565A>G
c.2913A>G
n.2250A>G
c.3835A>G
c.1803A>G
n.9119A>G
c.9103A>G (p.Ile3035Val)
c.9025A>G (p.Ile3009Val)
c.6409A>G (p.Ile2137Val)
c.9127A>G (p.Ile3043Val)
c.9124A>G (p.Ile3042Val)
c.9046A>G (p.Ile3016Val)
c.9031A>G (p.Ile3011Val)
c.2245A>G (p.Ile749Val)
c.2224A>G (p.Ile742Val)
n.9122A>G
5g.90712350A>TCA360396257ADGRV1c.9106A>T (p.Ile3036Phe)
c.265+36141A>T (n.265+36141A>T)
n.4565A>T
c.2913A>T
n.2250A>T
c.3835A>T
c.1803A>T
n.9119A>T
c.9103A>T (p.Ile3035Phe)
c.9025A>T (p.Ile3009Phe)
c.6409A>T (p.Ile2137Phe)
c.9127A>T (p.Ile3043Phe)
c.9124A>T (p.Ile3042Phe)
c.9046A>T (p.Ile3016Phe)
c.9031A>T (p.Ile3011Phe)
c.2245A>T (p.Ile749Phe)
c.2224A>T (p.Ile742Phe)
n.9122A>T
5g.90712351T>ACA360396259ADGRV1c.9107T>A (p.Ile3036Asn)
c.265+36142T>A (n.265+36142T>A)
n.4566T>A
c.2914T>A
n.2251T>A
c.3836T>A
c.1804T>A
n.9120T>A
c.9104T>A (p.Ile3035Asn)
c.9026T>A (p.Ile3009Asn)
c.6410T>A (p.Ile2137Asn)
c.9128T>A (p.Ile3043Asn)
c.9125T>A (p.Ile3042Asn)
c.9047T>A (p.Ile3016Asn)
c.9032T>A (p.Ile3011Asn)
c.2246T>A (p.Ile749Asn)
c.2225T>A (p.Ile742Asn)
n.9123T>A
5g.90712351T>CCA360396261ADGRV1c.9107T>C (p.Ile3036Thr)
c.265+36142T>C (n.265+36142T>C)
n.4566T>C
c.2914T>C
n.2251T>C
c.3836T>C
c.1804T>C
n.9120T>C
c.9104T>C (p.Ile3035Thr)
c.9026T>C (p.Ile3009Thr)
c.6410T>C (p.Ile2137Thr)
c.9128T>C (p.Ile3043Thr)
c.9125T>C (p.Ile3042Thr)
c.9047T>C (p.Ile3016Thr)
c.9032T>C (p.Ile3011Thr)
c.2246T>C (p.Ile749Thr)
c.2225T>C (p.Ile742Thr)
n.9123T>C
5g.90712351T>GCA360396260ADGRV1c.9107T>G (p.Ile3036Ser)
c.265+36142T>G (n.265+36142T>G)
n.4566T>G
c.2914T>G
n.2251T>G
c.3836T>G
c.1804T>G
n.9120T>G
c.9104T>G (p.Ile3035Ser)
c.9026T>G (p.Ile3009Ser)
c.6410T>G (p.Ile2137Ser)
c.9128T>G (p.Ile3043Ser)
c.9125T>G (p.Ile3042Ser)
c.9047T>G (p.Ile3016Ser)
c.9032T>G (p.Ile3011Ser)
c.2246T>G (p.Ile749Ser)
c.2225T>G (p.Ile742Ser)
n.9123T>G
5g.90712352T>ACA445411903ADGRV1c.9108T>A (p.Ile3036=)
c.265+36143T>A (n.265+36143T>A)
n.4567T>A
c.2915T>A
n.2252T>A
c.3837T>A
c.1805T>A
n.9121T>A
c.9105T>A (p.Ile3035=)
c.9027T>A (p.Ile3009=)
c.6411T>A (p.Ile2137=)
c.9129T>A (p.Ile3043=)
c.9126T>A (p.Ile3042=)
c.9048T>A (p.Ile3016=)
c.9033T>A (p.Ile3011=)
c.2247T>A (p.Ile749=)
c.2226T>A (p.Ile742=)
n.9124T>A
5g.90712352T>CCA445411905ADGRV1c.9108T>C (p.Ile3036=)
c.265+36143T>C (n.265+36143T>C)
n.4567T>C
c.2915T>C
n.2252T>C
c.3837T>C
c.1805T>C
n.9121T>C
c.9105T>C (p.Ile3035=)
c.9027T>C (p.Ile3009=)
c.6411T>C (p.Ile2137=)
c.9129T>C (p.Ile3043=)
c.9126T>C (p.Ile3042=)
c.9048T>C (p.Ile3016=)
c.9033T>C (p.Ile3011=)
c.2247T>C (p.Ile749=)
c.2226T>C (p.Ile742=)
n.9124T>C
5g.90712352T>GCA360396262ADGRV1c.9108T>G (p.Ile3036Met)
c.265+36143T>G (n.265+36143T>G)
n.4567T>G
c.2915T>G
n.2252T>G
c.3837T>G
c.1805T>G
n.9121T>G
c.9105T>G (p.Ile3035Met)
c.9027T>G (p.Ile3009Met)
c.6411T>G (p.Ile2137Met)
c.9129T>G (p.Ile3043Met)
c.9126T>G (p.Ile3042Met)
c.9048T>G (p.Ile3016Met)
c.9033T>G (p.Ile3011Met)
c.2247T>G (p.Ile749Met)
c.2226T>G (p.Ile742Met)
n.9124T>G
 gnomAD v4
5g.90712353C>ACA360396265ADGRV1c.9109C>A (p.Pro3037Thr)
c.265+36144C>A (n.265+36144C>A)
n.4568C>A
c.2916C>A
n.2253C>A
c.3838C>A
c.1806C>A
n.9122C>A
c.9106C>A (p.Pro3036Thr)
c.9028C>A (p.Pro3010Thr)
c.6412C>A (p.Pro2138Thr)
c.9130C>A (p.Pro3044Thr)
c.9127C>A (p.Pro3043Thr)
c.9049C>A (p.Pro3017Thr)
c.9034C>A (p.Pro3012Thr)
c.2248C>A (p.Pro750Thr)
c.2227C>A (p.Pro743Thr)
n.9125C>A
 gnomAD v4
5g.90712353C>GCA360396263ADGRV1c.9109C>G (p.Pro3037Ala)
c.265+36144C>G (n.265+36144C>G)
n.4568C>G
c.2916C>G
n.2253C>G
c.3838C>G
c.1806C>G
n.9122C>G
c.9106C>G (p.Pro3036Ala)
c.9028C>G (p.Pro3010Ala)
c.6412C>G (p.Pro2138Ala)
c.9130C>G (p.Pro3044Ala)
c.9127C>G (p.Pro3043Ala)
c.9049C>G (p.Pro3017Ala)
c.9034C>G (p.Pro3012Ala)
c.2248C>G (p.Pro750Ala)
c.2227C>G (p.Pro743Ala)
n.9125C>G
5g.90712353C>TCA360396264ADGRV1c.9109C>T (p.Pro3037Ser)
c.265+36144C>T (n.265+36144C>T)
n.4568C>T
c.2916C>T
n.2253C>T
c.3838C>T
c.1806C>T
n.9122C>T
c.9106C>T (p.Pro3036Ser)
c.9028C>T (p.Pro3010Ser)
c.6412C>T (p.Pro2138Ser)
c.9130C>T (p.Pro3044Ser)
c.9127C>T (p.Pro3043Ser)
c.9049C>T (p.Pro3017Ser)
c.9034C>T (p.Pro3012Ser)
c.2248C>T (p.Pro750Ser)
c.2227C>T (p.Pro743Ser)
n.9125C>T
 COSMIC
5g.90712354C>ACA360396266ADGRV1c.9110C>A (p.Pro3037Gln)
c.265+36145C>A (n.265+36145C>A)
n.4569C>A
c.2917C>A
n.2254C>A
c.3839C>A
c.1807C>A
n.9123C>A
c.9107C>A (p.Pro3036Gln)
c.9029C>A (p.Pro3010Gln)
c.6413C>A (p.Pro2138Gln)
c.9131C>A (p.Pro3044Gln)
c.9128C>A (p.Pro3043Gln)
c.9050C>A (p.Pro3017Gln)
c.9035C>A (p.Pro3012Gln)
c.2249C>A (p.Pro750Gln)
c.2228C>A (p.Pro743Gln)
n.9126C>A
 gnomAD v4
5g.90712354C=CA1562867539ADGRV1c.9110C= (p.Pro3037=)
c.265+36145C= (n.265+36145C=)
n.4569C=
c.2917C=
n.2254C=
c.3839C=
c.1807C=
n.9123C=
c.9107C= (p.Pro3036=)
c.9029C= (p.Pro3010=)
c.6413C= (p.Pro2138=)
c.9131C= (p.Pro3044=)
c.9128C= (p.Pro3043=)
c.9050C= (p.Pro3017=)
c.9035C= (p.Pro3012=)
c.2249C= (p.Pro750=)
c.2228C= (p.Pro743=)
n.9126C=
5g.90712354C>GCA360396267ADGRV1c.9110C>G (p.Pro3037Arg)
c.265+36145C>G (n.265+36145C>G)
n.4569C>G
c.2917C>G
n.2254C>G
c.3839C>G
c.1807C>G
n.9123C>G
c.9107C>G (p.Pro3036Arg)
c.9029C>G (p.Pro3010Arg)
c.6413C>G (p.Pro2138Arg)
c.9131C>G (p.Pro3044Arg)
c.9128C>G (p.Pro3043Arg)
c.9050C>G (p.Pro3017Arg)
c.9035C>G (p.Pro3012Arg)
c.2249C>G (p.Pro750Arg)
c.2228C>G (p.Pro743Arg)
n.9126C>G
5g.90712354C>TCA360396268ADGRV1c.9110C>T (p.Pro3037Leu)
c.265+36145C>T (n.265+36145C>T)
n.4569C>T
c.2917C>T
n.2254C>T
c.3839C>T
c.1807C>T
n.9123C>T
c.9107C>T (p.Pro3036Leu)
c.9029C>T (p.Pro3010Leu)
c.6413C>T (p.Pro2138Leu)
c.9131C>T (p.Pro3044Leu)
c.9128C>T (p.Pro3043Leu)
c.9050C>T (p.Pro3017Leu)
c.9035C>T (p.Pro3012Leu)
c.2249C>T (p.Pro750Leu)
c.2228C>T (p.Pro743Leu)
n.9126C>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.90712355A>CCA445411911ADGRV1c.9111A>C (p.Pro3037=)
c.265+36146A>C (n.265+36146A>C)
n.4570A>C
c.2918A>C
n.2255A>C
c.3840A>C
c.1808A>C
n.9124A>C
c.9108A>C (p.Pro3036=)
c.9030A>C (p.Pro3010=)
c.6414A>C (p.Pro2138=)
c.9132A>C (p.Pro3044=)
c.9129A>C (p.Pro3043=)
c.9051A>C (p.Pro3017=)
c.9036A>C (p.Pro3012=)
c.2250A>C (p.Pro750=)
c.2229A>C (p.Pro743=)
n.9127A>C
5g.90712355A>GCA445411913ADGRV1c.9111A>G (p.Pro3037=)
c.265+36146A>G (n.265+36146A>G)
n.4570A>G
c.2918A>G
n.2255A>G
c.3840A>G
c.1808A>G
n.9124A>G
c.9108A>G (p.Pro3036=)
c.9030A>G (p.Pro3010=)
c.6414A>G (p.Pro2138=)
c.9132A>G (p.Pro3044=)
c.9129A>G (p.Pro3043=)
c.9051A>G (p.Pro3017=)
c.9036A>G (p.Pro3012=)
c.2250A>G (p.Pro750=)
c.2229A>G (p.Pro743=)
n.9127A>G
 ClinVar
5g.90712355A>TCA445411915ADGRV1c.9111A>T (p.Pro3037=)
c.265+36146A>T (n.265+36146A>T)
n.4570A>T
c.2918A>T
n.2255A>T
c.3840A>T
c.1808A>T
n.9124A>T
c.9108A>T (p.Pro3036=)
c.9030A>T (p.Pro3010=)
c.6414A>T (p.Pro2138=)
c.9132A>T (p.Pro3044=)
c.9129A>T (p.Pro3043=)
c.9051A>T (p.Pro3017=)
c.9036A>T (p.Pro3012=)
c.2250A>T (p.Pro750=)
c.2229A>T (p.Pro743=)
n.9127A>T
 COSMIC
5g.90712356G>ACA360396269ADGRV1c.9112G>A (p.Glu3038Lys)
c.265+36147G>A (n.265+36147G>A)
n.4571G>A
c.2919G>A
n.2256G>A
c.3841G>A
c.1809G>A
n.9125G>A
c.9109G>A (p.Glu3037Lys)
c.9031G>A (p.Glu3011Lys)
c.6415G>A (p.Glu2139Lys)
c.9133G>A (p.Glu3045Lys)
c.9130G>A (p.Glu3044Lys)
c.9052G>A (p.Glu3018Lys)
c.9037G>A (p.Glu3013Lys)
c.2251G>A (p.Glu751Lys)
c.2230G>A (p.Glu744Lys)
n.9128G>A
5g.90712356G>CCA360396270ADGRV1c.9112G>C (p.Glu3038Gln)
c.265+36147G>C (n.265+36147G>C)
n.4571G>C
c.2919G>C
n.2256G>C
c.3841G>C
c.1809G>C
n.9125G>C
c.9109G>C (p.Glu3037Gln)
c.9031G>C (p.Glu3011Gln)
c.6415G>C (p.Glu2139Gln)
c.9133G>C (p.Glu3045Gln)
c.9130G>C (p.Glu3044Gln)
c.9052G>C (p.Glu3018Gln)
c.9037G>C (p.Glu3013Gln)
c.2251G>C (p.Glu751Gln)
c.2230G>C (p.Glu744Gln)
n.9128G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90712356G=CA1562867540ADGRV1c.9112G= (p.Glu3038=)
c.265+36147G= (n.265+36147G=)
n.4571G=
c.2919G=
n.2256G=
c.3841G=
c.1809G=
n.9125G=
c.9109G= (p.Glu3037=)
c.9031G= (p.Glu3011=)
c.6415G= (p.Glu2139=)
c.9133G= (p.Glu3045=)
c.9130G= (p.Glu3044=)
c.9052G= (p.Glu3018=)
c.9037G= (p.Glu3013=)
c.2251G= (p.Glu751=)
c.2230G= (p.Glu744=)
n.9128G=
5g.90712356G>TCA360396271ADGRV1c.9112G>T (p.Glu3038Ter)
c.265+36147G>T (n.265+36147G>T)
n.4571G>T
c.2919G>T
n.2256G>T
c.3841G>T
c.1809G>T
n.9125G>T
c.9109G>T (p.Glu3037Ter)
c.9031G>T (p.Glu3011Ter)
c.6415G>T (p.Glu2139Ter)
c.9133G>T (p.Glu3045Ter)
c.9130G>T (p.Glu3044Ter)
c.9052G>T (p.Glu3018Ter)
c.9037G>T (p.Glu3013Ter)
c.2251G>T (p.Glu751Ter)
c.2230G>T (p.Glu744Ter)
n.9128G>T
5g.90712357A>CCA360396272ADGRV1c.9113A>C (p.Glu3038Ala)
c.265+36148A>C (n.265+36148A>C)
n.4572A>C
c.2920A>C
n.2257A>C
c.3842A>C
c.1810A>C
n.9126A>C
c.9110A>C (p.Glu3037Ala)
c.9032A>C (p.Glu3011Ala)
c.6416A>C (p.Glu2139Ala)
c.9134A>C (p.Glu3045Ala)
c.9131A>C (p.Glu3044Ala)
c.9053A>C (p.Glu3018Ala)
c.9038A>C (p.Glu3013Ala)
c.2252A>C (p.Glu751Ala)
c.2231A>C (p.Glu744Ala)
n.9129A>C
5g.90712357A>GCA360396273ADGRV1c.9113A>G (p.Glu3038Gly)
c.265+36148A>G (n.265+36148A>G)
n.4572A>G
c.2920A>G
n.2257A>G
c.3842A>G
c.1810A>G
n.9126A>G
c.9110A>G (p.Glu3037Gly)
c.9032A>G (p.Glu3011Gly)
c.6416A>G (p.Glu2139Gly)
c.9134A>G (p.Glu3045Gly)
c.9131A>G (p.Glu3044Gly)
c.9053A>G (p.Glu3018Gly)
c.9038A>G (p.Glu3013Gly)
c.2252A>G (p.Glu751Gly)
c.2231A>G (p.Glu744Gly)
n.9129A>G
 gnomAD v4
5g.90712357A>TCA360396274ADGRV1c.9113A>T (p.Glu3038Val)
c.265+36148A>T (n.265+36148A>T)
n.4572A>T
c.2920A>T
n.2257A>T
c.3842A>T
c.1810A>T
n.9126A>T
c.9110A>T (p.Glu3037Val)
c.9032A>T (p.Glu3011Val)
c.6416A>T (p.Glu2139Val)
c.9134A>T (p.Glu3045Val)
c.9131A>T (p.Glu3044Val)
c.9053A>T (p.Glu3018Val)
c.9038A>T (p.Glu3013Val)
c.2252A>T (p.Glu751Val)
c.2231A>T (p.Glu744Val)
n.9129A>T
5g.90712358A>CCA360396276ADGRV1c.9114A>C (p.Glu3038Asp)
c.265+36149A>C (n.265+36149A>C)
n.4573A>C
c.2921A>C
n.2258A>C
c.3843A>C
c.1811A>C
n.9127A>C
c.9111A>C (p.Glu3037Asp)
c.9033A>C (p.Glu3011Asp)
c.6417A>C (p.Glu2139Asp)
c.9135A>C (p.Glu3045Asp)
c.9132A>C (p.Glu3044Asp)
c.9054A>C (p.Glu3018Asp)
c.9039A>C (p.Glu3013Asp)
c.2253A>C (p.Glu751Asp)
c.2232A>C (p.Glu744Asp)
n.9130A>C
5g.90712358A>GCA445411922ADGRV1c.9114A>G (p.Glu3038=)
c.265+36149A>G (n.265+36149A>G)
n.4573A>G
c.2921A>G
n.2258A>G
c.3843A>G
c.1811A>G
n.9127A>G
c.9111A>G (p.Glu3037=)
c.9033A>G (p.Glu3011=)
c.6417A>G (p.Glu2139=)
c.9135A>G (p.Glu3045=)
c.9132A>G (p.Glu3044=)
c.9054A>G (p.Glu3018=)
c.9039A>G (p.Glu3013=)
c.2253A>G (p.Glu751=)
c.2232A>G (p.Glu744=)
n.9130A>G
 gnomAD v4
5g.90712358A>TCA360396275ADGRV1c.9114A>T (p.Glu3038Asp)
c.265+36149A>T (n.265+36149A>T)
n.4573A>T
c.2921A>T
n.2258A>T
c.3843A>T
c.1811A>T
n.9127A>T
c.9111A>T (p.Glu3037Asp)
c.9033A>T (p.Glu3011Asp)
c.6417A>T (p.Glu2139Asp)
c.9135A>T (p.Glu3045Asp)
c.9132A>T (p.Glu3044Asp)
c.9054A>T (p.Glu3018Asp)
c.9039A>T (p.Glu3013Asp)
c.2253A>T (p.Glu751Asp)
c.2232A>T (p.Glu744Asp)
n.9130A>T
5g.90712359G>ACA3340444ADGRV1c.9115G>A (p.Gly3039Arg)
c.265+36150G>A (n.265+36150G>A)
n.4574G>A
c.2922G>A
n.2259G>A
c.3844G>A
c.1812G>A
n.9128G>A
c.9112G>A (p.Gly3038Arg)
c.9034G>A (p.Gly3012Arg)
c.6418G>A (p.Gly2140Arg)
c.9136G>A (p.Gly3046Arg)
c.9133G>A (p.Gly3045Arg)
c.9055G>A (p.Gly3019Arg)
c.9040G>A (p.Gly3014Arg)
c.2254G>A (p.Gly752Arg)
c.2233G>A (p.Gly745Arg)
n.9131G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90712359G>CCA360396277ADGRV1c.9115G>C (p.Gly3039Arg)
c.265+36150G>C (n.265+36150G>C)
n.4574G>C
c.2922G>C
n.2259G>C
c.3844G>C
c.1812G>C
n.9128G>C
c.9112G>C (p.Gly3038Arg)
c.9034G>C (p.Gly3012Arg)
c.6418G>C (p.Gly2140Arg)
c.9136G>C (p.Gly3046Arg)
c.9133G>C (p.Gly3045Arg)
c.9055G>C (p.Gly3019Arg)
c.9040G>C (p.Gly3014Arg)
c.2254G>C (p.Gly752Arg)
c.2233G>C (p.Gly745Arg)
n.9131G>C
5g.90712359G=CA1562867541ADGRV1c.9115G= (p.Gly3039=)
c.265+36150G= (n.265+36150G=)
n.4574G=
c.2922G=
n.2259G=
c.3844G=
c.1812G=
n.9128G=
c.9112G= (p.Gly3038=)
c.9034G= (p.Gly3012=)
c.6418G= (p.Gly2140=)
c.9136G= (p.Gly3046=)
c.9133G= (p.Gly3045=)
c.9055G= (p.Gly3019=)
c.9040G= (p.Gly3014=)
c.2254G= (p.Gly752=)
c.2233G= (p.Gly745=)
n.9131G=
5g.90712359G>TCA360396278ADGRV1c.9115G>T (p.Gly3039Ter)
c.265+36150G>T (n.265+36150G>T)
n.4574G>T
c.2922G>T
n.2259G>T
c.3844G>T
c.1812G>T
n.9128G>T
c.9112G>T (p.Gly3038Ter)
c.9034G>T (p.Gly3012Ter)
c.6418G>T (p.Gly2140Ter)
c.9136G>T (p.Gly3046Ter)
c.9133G>T (p.Gly3045Ter)
c.9055G>T (p.Gly3019Ter)
c.9040G>T (p.Gly3014Ter)
c.2254G>T (p.Gly752Ter)
c.2233G>T (p.Gly745Ter)
n.9131G>T
5g.90712360G>ACA360396279ADGRV1c.9116G>A (p.Gly3039Glu)
c.265+36151G>A (n.265+36151G>A)
n.4575G>A
c.2923G>A
n.2260G>A
c.3845G>A
c.1813G>A
n.9129G>A
c.9113G>A (p.Gly3038Glu)
c.9035G>A (p.Gly3012Glu)
c.6419G>A (p.Gly2140Glu)
c.9137G>A (p.Gly3046Glu)
c.9134G>A (p.Gly3045Glu)
c.9056G>A (p.Gly3019Glu)
c.9041G>A (p.Gly3014Glu)
c.2255G>A (p.Gly752Glu)
c.2234G>A (p.Gly745Glu)
n.9132G>A
 COSMIC
5g.90712360G>CCA360396280ADGRV1c.9116G>C (p.Gly3039Ala)
c.265+36151G>C (n.265+36151G>C)
n.4575G>C
c.2923G>C
n.2260G>C
c.3845G>C
c.1813G>C
n.9129G>C
c.9113G>C (p.Gly3038Ala)
c.9035G>C (p.Gly3012Ala)
c.6419G>C (p.Gly2140Ala)
c.9137G>C (p.Gly3046Ala)
c.9134G>C (p.Gly3045Ala)
c.9056G>C (p.Gly3019Ala)
c.9041G>C (p.Gly3014Ala)
c.2255G>C (p.Gly752Ala)
c.2234G>C (p.Gly745Ala)
n.9132G>C
5g.90712360G>TCA360396281ADGRV1c.9116G>T (p.Gly3039Val)
c.265+36151G>T (n.265+36151G>T)
n.4575G>T
c.2923G>T
n.2260G>T
c.3845G>T
c.1813G>T
n.9129G>T
c.9113G>T (p.Gly3038Val)
c.9035G>T (p.Gly3012Val)
c.6419G>T (p.Gly2140Val)
c.9137G>T (p.Gly3046Val)
c.9134G>T (p.Gly3045Val)
c.9056G>T (p.Gly3019Val)
c.9041G>T (p.Gly3014Val)
c.2255G>T (p.Gly752Val)
c.2234G>T (p.Gly745Val)
n.9132G>T
 gnomAD v4
5g.90712361A>CCA445411934ADGRV1c.9117A>C (p.Gly3039=)
c.265+36152A>C (n.265+36152A>C)
n.4576A>C
c.2924A>C
n.2261A>C
c.3846A>C
c.1814A>C
n.9130A>C
c.9114A>C (p.Gly3038=)
c.9036A>C (p.Gly3012=)
c.6420A>C (p.Gly2140=)
c.9138A>C (p.Gly3046=)
c.9135A>C (p.Gly3045=)
c.9057A>C (p.Gly3019=)
c.9042A>C (p.Gly3014=)
c.2256A>C (p.Gly752=)
c.2235A>C (p.Gly745=)
n.9133A>C
 gnomAD v4
5g.90712361A>GCA445411932ADGRV1c.9117A>G (p.Gly3039=)
c.265+36152A>G (n.265+36152A>G)
n.4576A>G
c.2924A>G
n.2261A>G
c.3846A>G
c.1814A>G
n.9130A>G
c.9114A>G (p.Gly3038=)
c.9036A>G (p.Gly3012=)
c.6420A>G (p.Gly2140=)
c.9138A>G (p.Gly3046=)
c.9135A>G (p.Gly3045=)
c.9057A>G (p.Gly3019=)
c.9042A>G (p.Gly3014=)
c.2256A>G (p.Gly752=)
c.2235A>G (p.Gly745=)
n.9133A>G
 gnomAD v4
5g.90712361A>TCA445411931ADGRV1c.9117A>T (p.Gly3039=)
c.265+36152A>T (n.265+36152A>T)
n.4576A>T
c.2924A>T
n.2261A>T
c.3846A>T
c.1814A>T
n.9130A>T
c.9114A>T (p.Gly3038=)
c.9036A>T (p.Gly3012=)
c.6420A>T (p.Gly2140=)
c.9138A>T (p.Gly3046=)
c.9135A>T (p.Gly3045=)
c.9057A>T (p.Gly3019=)
c.9042A>T (p.Gly3014=)
c.2256A>T (p.Gly752=)
c.2235A>T (p.Gly745=)
n.9133A>T
5g.90712362G>ACA3340445ADGRV1c.9118G>A (p.Asp3040Asn)
c.265+36153G>A (n.265+36153G>A)
n.4577G>A
c.2925G>A
n.2262G>A
c.3847G>A
c.1815G>A
n.9131G>A
c.9115G>A (p.Asp3039Asn)
c.9037G>A (p.Asp3013Asn)
c.6421G>A (p.Asp2141Asn)
c.9139G>A (p.Asp3047Asn)
c.9136G>A (p.Asp3046Asn)
c.9058G>A (p.Asp3020Asn)
c.9043G>A (p.Asp3015Asn)
c.2257G>A (p.Asp753Asn)
c.2236G>A (p.Asp746Asn)
n.9134G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90712362G>CCA360396282ADGRV1c.9118G>C (p.Asp3040His)
c.265+36153G>C (n.265+36153G>C)
n.4577G>C
c.2925G>C
n.2262G>C
c.3847G>C
c.1815G>C
n.9131G>C
c.9115G>C (p.Asp3039His)
c.9037G>C (p.Asp3013His)
c.6421G>C (p.Asp2141His)
c.9139G>C (p.Asp3047His)
c.9136G>C (p.Asp3046His)
c.9058G>C (p.Asp3020His)
c.9043G>C (p.Asp3015His)
c.2257G>C (p.Asp753His)
c.2236G>C (p.Asp746His)
n.9134G>C
5g.90712362G=CA1562867542ADGRV1c.9118G= (p.Asp3040=)
c.265+36153G= (n.265+36153G=)
n.4577G=
c.2925G=
n.2262G=
c.3847G=
c.1815G=
n.9131G=
c.9115G= (p.Asp3039=)
c.9037G= (p.Asp3013=)
c.6421G= (p.Asp2141=)
c.9139G= (p.Asp3047=)
c.9136G= (p.Asp3046=)
c.9058G= (p.Asp3020=)
c.9043G= (p.Asp3015=)
c.2257G= (p.Asp753=)
c.2236G= (p.Asp746=)
n.9134G=
5g.90712362G>TCA360396283ADGRV1c.9118G>T (p.Asp3040Tyr)
c.265+36153G>T (n.265+36153G>T)
n.4577G>T
c.2925G>T
n.2262G>T
c.3847G>T
c.1815G>T
n.9131G>T
c.9115G>T (p.Asp3039Tyr)
c.9037G>T (p.Asp3013Tyr)
c.6421G>T (p.Asp2141Tyr)
c.9139G>T (p.Asp3047Tyr)
c.9136G>T (p.Asp3046Tyr)
c.9058G>T (p.Asp3020Tyr)
c.9043G>T (p.Asp3015Tyr)
c.2257G>T (p.Asp753Tyr)
c.2236G>T (p.Asp746Tyr)
n.9134G>T
 gnomAD v4
5g.90712363A>CCA360396284ADGRV1c.9119A>C (p.Asp3040Ala)
c.265+36154A>C (n.265+36154A>C)
n.4578A>C
c.2926A>C
n.2263A>C
c.3848A>C
c.1816A>C
n.9132A>C
c.9116A>C (p.Asp3039Ala)
c.9038A>C (p.Asp3013Ala)
c.6422A>C (p.Asp2141Ala)
c.9140A>C (p.Asp3047Ala)
c.9137A>C (p.Asp3046Ala)
c.9059A>C (p.Asp3020Ala)
c.9044A>C (p.Asp3015Ala)
c.2258A>C (p.Asp753Ala)
c.2237A>C (p.Asp746Ala)
n.9135A>C
5g.90712363A>GCA360396285ADGRV1c.9119A>G (p.Asp3040Gly)
c.265+36154A>G (n.265+36154A>G)
n.4578A>G
c.2926A>G
n.2263A>G
c.3848A>G
c.1816A>G
n.9132A>G
c.9116A>G (p.Asp3039Gly)
c.9038A>G (p.Asp3013Gly)
c.6422A>G (p.Asp2141Gly)
c.9140A>G (p.Asp3047Gly)
c.9137A>G (p.Asp3046Gly)
c.9059A>G (p.Asp3020Gly)
c.9044A>G (p.Asp3015Gly)
c.2258A>G (p.Asp753Gly)
c.2237A>G (p.Asp746Gly)
n.9135A>G
 gnomAD v4
5g.90712363A>TCA360396286ADGRV1c.9119A>T (p.Asp3040Val)
c.265+36154A>T (n.265+36154A>T)
n.4578A>T
c.2926A>T
n.2263A>T
c.3848A>T
c.1816A>T
n.9132A>T
c.9116A>T (p.Asp3039Val)
c.9038A>T (p.Asp3013Val)
c.6422A>T (p.Asp2141Val)
c.9140A>T (p.Asp3047Val)
c.9137A>T (p.Asp3046Val)
c.9059A>T (p.Asp3020Val)
c.9044A>T (p.Asp3015Val)
c.2258A>T (p.Asp753Val)
c.2237A>T (p.Asp746Val)
n.9135A>T
5g.90712364T>ACA360396287ADGRV1c.9120T>A (p.Asp3040Glu)
c.265+36155T>A (n.265+36155T>A)
n.4579T>A
c.2927T>A
n.2264T>A
c.3849T>A
c.1817T>A
n.9133T>A
c.9117T>A (p.Asp3039Glu)
c.9039T>A (p.Asp3013Glu)
c.6423T>A (p.Asp2141Glu)
c.9141T>A (p.Asp3047Glu)
c.9138T>A (p.Asp3046Glu)
c.9060T>A (p.Asp3020Glu)
c.9045T>A (p.Asp3015Glu)
c.2259T>A (p.Asp753Glu)
c.2238T>A (p.Asp746Glu)
n.9136T>A
5g.90712364T>CCA445411941ADGRV1c.9120T>C (p.Asp3040=)
c.265+36155T>C (n.265+36155T>C)
n.4579T>C
c.2927T>C
n.2264T>C
c.3849T>C
c.1817T>C
n.9133T>C
c.9117T>C (p.Asp3039=)
c.9039T>C (p.Asp3013=)
c.6423T>C (p.Asp2141=)
c.9141T>C (p.Asp3047=)
c.9138T>C (p.Asp3046=)
c.9060T>C (p.Asp3020=)
c.9045T>C (p.Asp3015=)
c.2259T>C (p.Asp753=)
c.2238T>C (p.Asp746=)
n.9136T>C
 ClinVar
5g.90712364T>GCA3340446ADGRV1c.9120T>G (p.Asp3040Glu)
c.265+36155T>G (n.265+36155T>G)
n.4579T>G
c.2927T>G
n.2264T>G
c.3849T>G
c.1817T>G
n.9133T>G
c.9117T>G (p.Asp3039Glu)
c.9039T>G (p.Asp3013Glu)
c.6423T>G (p.Asp2141Glu)
c.9141T>G (p.Asp3047Glu)
c.9138T>G (p.Asp3046Glu)
c.9060T>G (p.Asp3020Glu)
c.9045T>G (p.Asp3015Glu)
c.2259T>G (p.Asp753Glu)
c.2238T>G (p.Asp746Glu)
n.9136T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90712364T=CA1562867543ADGRV1c.9120T= (p.Asp3040=)
c.265+36155T= (n.265+36155T=)
n.4579T=
c.2927T=
n.2264T=
c.3849T=
c.1817T=
n.9133T=
c.9117T= (p.Asp3039=)
c.9039T= (p.Asp3013=)
c.6423T= (p.Asp2141=)
c.9141T= (p.Asp3047=)
c.9138T= (p.Asp3046=)
c.9060T= (p.Asp3020=)
c.9045T= (p.Asp3015=)
c.2259T= (p.Asp753=)
c.2238T= (p.Asp746=)
n.9136T=
5g.90712365G>ACA360396288ADGRV1c.9121G>A (p.Glu3041Lys)
c.265+36156G>A (n.265+36156G>A)
n.4580G>A
c.2928G>A
n.2265G>A
c.3850G>A
c.1818G>A
n.9134G>A
c.9118G>A (p.Glu3040Lys)
c.9040G>A (p.Glu3014Lys)
c.6424G>A (p.Glu2142Lys)
c.9142G>A (p.Glu3048Lys)
c.9139G>A (p.Glu3047Lys)
c.9061G>A (p.Glu3021Lys)
c.9046G>A (p.Glu3016Lys)
c.2260G>A (p.Glu754Lys)
c.2239G>A (p.Glu747Lys)
n.9137G>A
5g.90712365G>CCA360396289ADGRV1c.9121G>C (p.Glu3041Gln)
c.265+36156G>C (n.265+36156G>C)
n.4580G>C
c.2928G>C
n.2265G>C
c.3850G>C
c.1818G>C
n.9134G>C
c.9118G>C (p.Glu3040Gln)
c.9040G>C (p.Glu3014Gln)
c.6424G>C (p.Glu2142Gln)
c.9142G>C (p.Glu3048Gln)
c.9139G>C (p.Glu3047Gln)
c.9061G>C (p.Glu3021Gln)
c.9046G>C (p.Glu3016Gln)
c.2260G>C (p.Glu754Gln)
c.2239G>C (p.Glu747Gln)
n.9137G>C
5g.90712365G>TCA360396290ADGRV1c.9121G>T (p.Glu3041Ter)
c.265+36156G>T (n.265+36156G>T)
n.4580G>T
c.2928G>T
n.2265G>T
c.3850G>T
c.1818G>T
n.9134G>T
c.9118G>T (p.Glu3040Ter)
c.9040G>T (p.Glu3014Ter)
c.6424G>T (p.Glu2142Ter)
c.9142G>T (p.Glu3048Ter)
c.9139G>T (p.Glu3047Ter)
c.9061G>T (p.Glu3021Ter)
c.9046G>T (p.Glu3016Ter)
c.2260G>T (p.Glu754Ter)
c.2239G>T (p.Glu747Ter)
n.9137G>T
 gnomAD v4
5g.90712366A>CCA360396291ADGRV1c.9122A>C (p.Glu3041Ala)
c.265+36157A>C (n.265+36157A>C)
n.4581A>C
c.2929A>C
n.2266A>C
c.3851A>C
c.1819A>C
n.9135A>C
c.9119A>C (p.Glu3040Ala)
c.9041A>C (p.Glu3014Ala)
c.6425A>C (p.Glu2142Ala)
c.9143A>C (p.Glu3048Ala)
c.9140A>C (p.Glu3047Ala)
c.9062A>C (p.Glu3021Ala)
c.9047A>C (p.Glu3016Ala)
c.2261A>C (p.Glu754Ala)
c.2240A>C (p.Glu747Ala)
n.9138A>C
5g.90712366A>GCA360396292ADGRV1c.9122A>G (p.Glu3041Gly)
c.265+36157A>G (n.265+36157A>G)
n.4581A>G
c.2929A>G
n.2266A>G
c.3851A>G
c.1819A>G
n.9135A>G
c.9119A>G (p.Glu3040Gly)
c.9041A>G (p.Glu3014Gly)
c.6425A>G (p.Glu2142Gly)
c.9143A>G (p.Glu3048Gly)
c.9140A>G (p.Glu3047Gly)
c.9062A>G (p.Glu3021Gly)
c.9047A>G (p.Glu3016Gly)
c.2261A>G (p.Glu754Gly)
c.2240A>G (p.Glu747Gly)
n.9138A>G
5g.90712366A>TCA360396293ADGRV1c.9122A>T (p.Glu3041Val)
c.265+36157A>T (n.265+36157A>T)
n.4581A>T
c.2929A>T
n.2266A>T
c.3851A>T
c.1819A>T
n.9135A>T
c.9119A>T (p.Glu3040Val)
c.9041A>T (p.Glu3014Val)
c.6425A>T (p.Glu2142Val)
c.9143A>T (p.Glu3048Val)
c.9140A>T (p.Glu3047Val)
c.9062A>T (p.Glu3021Val)
c.9047A>T (p.Glu3016Val)
c.2261A>T (p.Glu754Val)
c.2240A>T (p.Glu747Val)
n.9138A>T
5g.90712370delCA2674570152ADGRV1c.9126del (p.Lys3042AsnfsTer4)
c.265+36161del (n.265+36161del)
n.4585del
c.2933del
n.2270del
c.3855del
c.1823del
n.9139del
c.9123del (p.Lys3041AsnfsTer4)
c.9045del (p.Lys3015AsnfsTer4)
c.6429del (p.Lys2143AsnfsTer4)
c.9147del (p.Lys3049AsnfsTer4)
c.9144del (p.Lys3048AsnfsTer4)
c.9066del (p.Lys3022AsnfsTer4)
c.9051del (p.Lys3017AsnfsTer4)
c.2265del (p.Lys755AsnfsTer4)
c.2244del (p.Lys748AsnfsTer4)
n.9142del
 gnomAD v4
5g.90712367A>CCA360396294ADGRV1c.9123A>C (p.Glu3041Asp)
c.265+36158A>C (n.265+36158A>C)
n.4582A>C
c.2930A>C
n.2267A>C
c.3852A>C
c.1820A>C
n.9136A>C
c.9120A>C (p.Glu3040Asp)
c.9042A>C (p.Glu3014Asp)
c.6426A>C (p.Glu2142Asp)
c.9144A>C (p.Glu3048Asp)
c.9141A>C (p.Glu3047Asp)
c.9063A>C (p.Glu3021Asp)
c.9048A>C (p.Glu3016Asp)
c.2262A>C (p.Glu754Asp)
c.2241A>C (p.Glu747Asp)
n.9139A>C
5g.90712367A>GCA445411952ADGRV1c.9123A>G (p.Glu3041=)
c.265+36158A>G (n.265+36158A>G)
n.4582A>G
c.2930A>G
n.2267A>G
c.3852A>G
c.1820A>G
n.9136A>G
c.9120A>G (p.Glu3040=)
c.9042A>G (p.Glu3014=)
c.6426A>G (p.Glu2142=)
c.9144A>G (p.Glu3048=)
c.9141A>G (p.Glu3047=)
c.9063A>G (p.Glu3021=)
c.9048A>G (p.Glu3016=)
c.2262A>G (p.Glu754=)
c.2241A>G (p.Glu747=)
n.9139A>G
 gnomAD v4
5g.90712367A>TCA360396295ADGRV1c.9123A>T (p.Glu3041Asp)
c.265+36158A>T (n.265+36158A>T)
n.4582A>T
c.2930A>T
n.2267A>T
c.3852A>T
c.1820A>T
n.9136A>T
c.9120A>T (p.Glu3040Asp)
c.9042A>T (p.Glu3014Asp)
c.6426A>T (p.Glu2142Asp)
c.9144A>T (p.Glu3048Asp)
c.9141A>T (p.Glu3047Asp)
c.9063A>T (p.Glu3021Asp)
c.9048A>T (p.Glu3016Asp)
c.2262A>T (p.Glu754Asp)
c.2241A>T (p.Glu747Asp)
n.9139A>T
 gnomAD v4
5g.90712368A>CCA360396296ADGRV1c.9124A>C (p.Lys3042Gln)
c.265+36159A>C (n.265+36159A>C)
n.4583A>C
c.2931A>C
n.2268A>C
c.3853A>C
c.1821A>C
n.9137A>C
c.9121A>C (p.Lys3041Gln)
c.9043A>C (p.Lys3015Gln)
c.6427A>C (p.Lys2143Gln)
c.9145A>C (p.Lys3049Gln)
c.9142A>C (p.Lys3048Gln)
c.9064A>C (p.Lys3022Gln)
c.9049A>C (p.Lys3017Gln)
c.2263A>C (p.Lys755Gln)
c.2242A>C (p.Lys748Gln)
n.9140A>C
5g.90712368A>GCA360396297ADGRV1c.9124A>G (p.Lys3042Glu)
c.265+36159A>G (n.265+36159A>G)
n.4583A>G
c.2931A>G
n.2268A>G
c.3853A>G
c.1821A>G
n.9137A>G
c.9121A>G (p.Lys3041Glu)
c.9043A>G (p.Lys3015Glu)
c.6427A>G (p.Lys2143Glu)
c.9145A>G (p.Lys3049Glu)
c.9142A>G (p.Lys3048Glu)
c.9064A>G (p.Lys3022Glu)
c.9049A>G (p.Lys3017Glu)
c.2263A>G (p.Lys755Glu)
c.2242A>G (p.Lys748Glu)
n.9140A>G
5g.90712368A>TCA360396298ADGRV1c.9124A>T (p.Lys3042Ter)
c.265+36159A>T (n.265+36159A>T)
n.4583A>T
c.2931A>T
n.2268A>T
c.3853A>T
c.1821A>T
n.9137A>T
c.9121A>T (p.Lys3041Ter)
c.9043A>T (p.Lys3015Ter)
c.6427A>T (p.Lys2143Ter)
c.9145A>T (p.Lys3049Ter)
c.9142A>T (p.Lys3048Ter)
c.9064A>T (p.Lys3022Ter)
c.9049A>T (p.Lys3017Ter)
c.2263A>T (p.Lys755Ter)
c.2242A>T (p.Lys748Ter)
n.9140A>T
5g.90712369A>CCA360396301ADGRV1c.9125A>C (p.Lys3042Thr)
c.265+36160A>C (n.265+36160A>C)
n.4584A>C
c.2932A>C
n.2269A>C
c.3854A>C
c.1822A>C
n.9138A>C
c.9122A>C (p.Lys3041Thr)
c.9044A>C (p.Lys3015Thr)
c.6428A>C (p.Lys2143Thr)
c.9146A>C (p.Lys3049Thr)
c.9143A>C (p.Lys3048Thr)
c.9065A>C (p.Lys3022Thr)
c.9050A>C (p.Lys3017Thr)
c.2264A>C (p.Lys755Thr)
c.2243A>C (p.Lys748Thr)
n.9141A>C
5g.90712369A>GCA360396300ADGRV1c.9125A>G (p.Lys3042Arg)
c.265+36160A>G (n.265+36160A>G)
n.4584A>G
c.2932A>G
n.2269A>G
c.3854A>G
c.1822A>G
n.9138A>G
c.9122A>G (p.Lys3041Arg)
c.9044A>G (p.Lys3015Arg)
c.6428A>G (p.Lys2143Arg)
c.9146A>G (p.Lys3049Arg)
c.9143A>G (p.Lys3048Arg)
c.9065A>G (p.Lys3022Arg)
c.9050A>G (p.Lys3017Arg)
c.2264A>G (p.Lys755Arg)
c.2243A>G (p.Lys748Arg)
n.9141A>G
 ClinVar
5g.90712369A>TCA360396299ADGRV1c.9125A>T (p.Lys3042Ile)
c.265+36160A>T (n.265+36160A>T)
n.4584A>T
c.2932A>T
n.2269A>T
c.3854A>T
c.1822A>T
n.9138A>T
c.9122A>T (p.Lys3041Ile)
c.9044A>T (p.Lys3015Ile)
c.6428A>T (p.Lys2143Ile)
c.9146A>T (p.Lys3049Ile)
c.9143A>T (p.Lys3048Ile)
c.9065A>T (p.Lys3022Ile)
c.9050A>T (p.Lys3017Ile)
c.2264A>T (p.Lys755Ile)
c.2243A>T (p.Lys748Ile)
n.9141A>T
5g.90712370A>CCA360396302ADGRV1c.9126A>C (p.Lys3042Asn)
c.265+36161A>C (n.265+36161A>C)
n.4585A>C
c.2933A>C
n.2270A>C
c.3855A>C
c.1823A>C
n.9139A>C
c.9123A>C (p.Lys3041Asn)
c.9045A>C (p.Lys3015Asn)
c.6429A>C (p.Lys2143Asn)
c.9147A>C (p.Lys3049Asn)
c.9144A>C (p.Lys3048Asn)
c.9066A>C (p.Lys3022Asn)
c.9051A>C (p.Lys3017Asn)
c.2265A>C (p.Lys755Asn)
c.2244A>C (p.Lys748Asn)
n.9142A>C
5g.90712370A>GCA445411962ADGRV1c.9126A>G (p.Lys3042=)
c.265+36161A>G (n.265+36161A>G)
n.4585A>G
c.2933A>G
n.2270A>G
c.3855A>G
c.1823A>G
n.9139A>G
c.9123A>G (p.Lys3041=)
c.9045A>G (p.Lys3015=)
c.6429A>G (p.Lys2143=)
c.9147A>G (p.Lys3049=)
c.9144A>G (p.Lys3048=)
c.9066A>G (p.Lys3022=)
c.9051A>G (p.Lys3017=)
c.2265A>G (p.Lys755=)
c.2244A>G (p.Lys748=)
n.9142A>G
5g.90712370A>TCA360396303ADGRV1c.9126A>T (p.Lys3042Asn)
c.265+36161A>T (n.265+36161A>T)
n.4585A>T
c.2933A>T
n.2270A>T
c.3855A>T
c.1823A>T
n.9139A>T
c.9123A>T (p.Lys3041Asn)
c.9045A>T (p.Lys3015Asn)
c.6429A>T (p.Lys2143Asn)
c.9147A>T (p.Lys3049Asn)
c.9144A>T (p.Lys3048Asn)
c.9066A>T (p.Lys3022Asn)
c.9051A>T (p.Lys3017Asn)
c.2265A>T (p.Lys755Asn)
c.2244A>T (p.Lys748Asn)
n.9142A>T
5g.90712371T>ACA360396304ADGRV1c.9127T>A (p.Phe3043Ile)
c.265+36162T>A (n.265+36162T>A)
n.4586T>A
c.2934T>A
n.2271T>A
c.3856T>A
c.1824T>A
n.9140T>A
c.9124T>A (p.Phe3042Ile)
c.9046T>A (p.Phe3016Ile)
c.6430T>A (p.Phe2144Ile)
c.9148T>A (p.Phe3050Ile)
c.9145T>A (p.Phe3049Ile)
c.9067T>A (p.Phe3023Ile)
c.9052T>A (p.Phe3018Ile)
c.2266T>A (p.Phe756Ile)
c.2245T>A (p.Phe749Ile)
n.9143T>A
 gnomAD v4
5g.90712371T>CCA360396305ADGRV1c.9127T>C (p.Phe3043Leu)
c.265+36162T>C (n.265+36162T>C)
n.4586T>C
c.2934T>C
n.2271T>C
c.3856T>C
c.1824T>C
n.9140T>C
c.9124T>C (p.Phe3042Leu)
c.9046T>C (p.Phe3016Leu)
c.6430T>C (p.Phe2144Leu)
c.9148T>C (p.Phe3050Leu)
c.9145T>C (p.Phe3049Leu)
c.9067T>C (p.Phe3023Leu)
c.9052T>C (p.Phe3018Leu)
c.2266T>C (p.Phe756Leu)
c.2245T>C (p.Phe749Leu)
n.9143T>C
5g.90712371T>GCA360396306ADGRV1c.9127T>G (p.Phe3043Val)
c.265+36162T>G (n.265+36162T>G)
n.4586T>G
c.2934T>G
n.2271T>G
c.3856T>G
c.1824T>G
n.9140T>G
c.9124T>G (p.Phe3042Val)
c.9046T>G (p.Phe3016Val)
c.6430T>G (p.Phe2144Val)
c.9148T>G (p.Phe3050Val)
c.9145T>G (p.Phe3049Val)
c.9067T>G (p.Phe3023Val)
c.9052T>G (p.Phe3018Val)
c.2266T>G (p.Phe756Val)
c.2245T>G (p.Phe749Val)
n.9143T>G
5g.90712372T>ACA360396307ADGRV1c.9128T>A (p.Phe3043Tyr)
c.265+36163T>A (n.265+36163T>A)
n.4587T>A
c.2935T>A
n.2272T>A
c.3857T>A
c.1825T>A
n.9141T>A
c.9125T>A (p.Phe3042Tyr)
c.9047T>A (p.Phe3016Tyr)
c.6431T>A (p.Phe2144Tyr)
c.9149T>A (p.Phe3050Tyr)
c.9146T>A (p.Phe3049Tyr)
c.9068T>A (p.Phe3023Tyr)
c.9053T>A (p.Phe3018Tyr)
c.2267T>A (p.Phe756Tyr)
c.2246T>A (p.Phe749Tyr)
n.9144T>A
 dbSNP gnomAD v2 gnomAD v4
5g.90712372T>CCA360396308ADGRV1c.9128T>C (p.Phe3043Ser)
c.265+36163T>C (n.265+36163T>C)
n.4587T>C
c.2935T>C
n.2272T>C
c.3857T>C
c.1825T>C
n.9141T>C
c.9125T>C (p.Phe3042Ser)
c.9047T>C (p.Phe3016Ser)
c.6431T>C (p.Phe2144Ser)
c.9149T>C (p.Phe3050Ser)
c.9146T>C (p.Phe3049Ser)
c.9068T>C (p.Phe3023Ser)
c.9053T>C (p.Phe3018Ser)
c.2267T>C (p.Phe756Ser)
c.2246T>C (p.Phe749Ser)
n.9144T>C
 gnomAD v4
5g.90712372T>GCA360396309ADGRV1c.9128T>G (p.Phe3043Cys)
c.265+36163T>G (n.265+36163T>G)
n.4587T>G
c.2935T>G
n.2272T>G
c.3857T>G
c.1825T>G
n.9141T>G
c.9125T>G (p.Phe3042Cys)
c.9047T>G (p.Phe3016Cys)
c.6431T>G (p.Phe2144Cys)
c.9149T>G (p.Phe3050Cys)
c.9146T>G (p.Phe3049Cys)
c.9068T>G (p.Phe3023Cys)
c.9053T>G (p.Phe3018Cys)
c.2267T>G (p.Phe756Cys)
c.2246T>G (p.Phe749Cys)
n.9144T>G
5g.90712372T=CA1562867544ADGRV1c.9128T= (p.Phe3043=)
c.265+36163T= (n.265+36163T=)
n.4587T=
c.2935T=
n.2272T=
c.3857T=
c.1825T=
n.9141T=
c.9125T= (p.Phe3042=)
c.9047T= (p.Phe3016=)
c.6431T= (p.Phe2144=)
c.9149T= (p.Phe3050=)
c.9146T= (p.Phe3049=)
c.9068T= (p.Phe3023=)
c.9053T= (p.Phe3018=)
c.2267T= (p.Phe756=)
c.2246T= (p.Phe749=)
n.9144T=
5g.90712373T>ACA360396310ADGRV1c.9129T>A (p.Phe3043Leu)
c.265+36164T>A (n.265+36164T>A)
n.4588T>A
c.2936T>A
n.2273T>A
c.3858T>A
c.1826T>A
n.9142T>A
c.9126T>A (p.Phe3042Leu)
c.9048T>A (p.Phe3016Leu)
c.6432T>A (p.Phe2144Leu)
c.9150T>A (p.Phe3050Leu)
c.9147T>A (p.Phe3049Leu)
c.9069T>A (p.Phe3023Leu)
c.9054T>A (p.Phe3018Leu)
c.2268T>A (p.Phe756Leu)
c.2247T>A (p.Phe749Leu)
n.9145T>A
5g.90712373T>CCA445411970ADGRV1c.9129T>C (p.Phe3043=)
c.265+36164T>C (n.265+36164T>C)
n.4588T>C
c.2936T>C
n.2273T>C
c.3858T>C
c.1826T>C
n.9142T>C
c.9126T>C (p.Phe3042=)
c.9048T>C (p.Phe3016=)
c.6432T>C (p.Phe2144=)
c.9150T>C (p.Phe3050=)
c.9147T>C (p.Phe3049=)
c.9069T>C (p.Phe3023=)
c.9054T>C (p.Phe3018=)
c.2268T>C (p.Phe756=)
c.2247T>C (p.Phe749=)
n.9145T>C
 gnomAD v4
5g.90712373T>GCA360396311ADGRV1c.9129T>G (p.Phe3043Leu)
c.265+36164T>G (n.265+36164T>G)
n.4588T>G
c.2936T>G
n.2273T>G
c.3858T>G
c.1826T>G
n.9142T>G
c.9126T>G (p.Phe3042Leu)
c.9048T>G (p.Phe3016Leu)
c.6432T>G (p.Phe2144Leu)
c.9150T>G (p.Phe3050Leu)
c.9147T>G (p.Phe3049Leu)
c.9069T>G (p.Phe3023Leu)
c.9054T>G (p.Phe3018Leu)
c.2268T>G (p.Phe756Leu)
c.2247T>G (p.Phe749Leu)
n.9145T>G
5g.90712374C>ACA360396312ADGRV1c.9130C>A (p.Gln3044Lys)
c.265+36165C>A (n.265+36165C>A)
n.4589C>A
c.2937C>A
n.2274C>A
c.3859C>A
c.1827C>A
n.9143C>A
c.9127C>A (p.Gln3043Lys)
c.9049C>A (p.Gln3017Lys)
c.6433C>A (p.Gln2145Lys)
c.9151C>A (p.Gln3051Lys)
c.9148C>A (p.Gln3050Lys)
c.9070C>A (p.Gln3024Lys)
c.9055C>A (p.Gln3019Lys)
c.2269C>A (p.Gln757Lys)
c.2248C>A (p.Gln750Lys)
n.9146C>A
 gnomAD v4
5g.90712374C=CA1562867545ADGRV1c.9130C= (p.Gln3044=)
c.265+36165C= (n.265+36165C=)
n.4589C=
c.2937C=
n.2274C=
c.3859C=
c.1827C=
n.9143C=
c.9127C= (p.Gln3043=)
c.9049C= (p.Gln3017=)
c.6433C= (p.Gln2145=)
c.9151C= (p.Gln3051=)
c.9148C= (p.Gln3050=)
c.9070C= (p.Gln3024=)
c.9055C= (p.Gln3019=)
c.2269C= (p.Gln757=)
c.2248C= (p.Gln750=)
n.9146C=
5g.90712374C>GCA360396313ADGRV1c.9130C>G (p.Gln3044Glu)
c.265+36165C>G (n.265+36165C>G)
n.4589C>G
c.2937C>G
n.2274C>G
c.3859C>G
c.1827C>G
n.9143C>G
c.9127C>G (p.Gln3043Glu)
c.9049C>G (p.Gln3017Glu)
c.6433C>G (p.Gln2145Glu)
c.9151C>G (p.Gln3051Glu)
c.9148C>G (p.Gln3050Glu)
c.9070C>G (p.Gln3024Glu)
c.9055C>G (p.Gln3019Glu)
c.2269C>G (p.Gln757Glu)
c.2248C>G (p.Gln750Glu)
n.9146C>G
 COSMIC
5g.90712374C>TCA360396314ADGRV1c.9130C>T (p.Gln3044Ter)
c.265+36165C>T (n.265+36165C>T)
n.4589C>T
c.2937C>T
n.2274C>T
c.3859C>T
c.1827C>T
n.9143C>T
c.9127C>T (p.Gln3043Ter)
c.9049C>T (p.Gln3017Ter)
c.6433C>T (p.Gln2145Ter)
c.9151C>T (p.Gln3051Ter)
c.9148C>T (p.Gln3050Ter)
c.9070C>T (p.Gln3024Ter)
c.9055C>T (p.Gln3019Ter)
c.2269C>T (p.Gln757Ter)
c.2248C>T (p.Gln750Ter)
n.9146C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.90712375A=CA1562867546ADGRV1c.9131A= (p.Gln3044=)
c.265+36166A= (n.265+36166A=)
n.4590A=
c.2938A=
n.2275A=
c.3860A=
c.1828A=
n.9144A=
c.9128A= (p.Gln3043=)
c.9050A= (p.Gln3017=)
c.6434A= (p.Gln2145=)
c.9152A= (p.Gln3051=)
c.9149A= (p.Gln3050=)
c.9071A= (p.Gln3024=)
c.9056A= (p.Gln3019=)
c.2270A= (p.Gln757=)
c.2249A= (p.Gln750=)
n.9147A=
5g.90712375A>CCA360396315ADGRV1c.9131A>C (p.Gln3044Pro)
c.265+36166A>C (n.265+36166A>C)
n.4590A>C
c.2938A>C
n.2275A>C
c.3860A>C
c.1828A>C
n.9144A>C
c.9128A>C (p.Gln3043Pro)
c.9050A>C (p.Gln3017Pro)
c.6434A>C (p.Gln2145Pro)
c.9152A>C (p.Gln3051Pro)
c.9149A>C (p.Gln3050Pro)
c.9071A>C (p.Gln3024Pro)
c.9056A>C (p.Gln3019Pro)
c.2270A>C (p.Gln757Pro)
c.2249A>C (p.Gln750Pro)
n.9147A>C
5g.90712375A>GCA360396316ADGRV1c.9131A>G (p.Gln3044Arg)
c.265+36166A>G (n.265+36166A>G)
n.4590A>G
c.2938A>G
n.2275A>G
c.3860A>G
c.1828A>G
n.9144A>G
c.9128A>G (p.Gln3043Arg)
c.9050A>G (p.Gln3017Arg)
c.6434A>G (p.Gln2145Arg)
c.9152A>G (p.Gln3051Arg)
c.9149A>G (p.Gln3050Arg)
c.9071A>G (p.Gln3024Arg)
c.9056A>G (p.Gln3019Arg)
c.2270A>G (p.Gln757Arg)
c.2249A>G (p.Gln750Arg)
n.9147A>G
 gnomAD v4
5g.90712375A>TCA3340447ADGRV1c.9131A>T (p.Gln3044Leu)
c.265+36166A>T (n.265+36166A>T)
n.4590A>T
c.2938A>T
n.2275A>T
c.3860A>T
c.1828A>T
n.9144A>T
c.9128A>T (p.Gln3043Leu)
c.9050A>T (p.Gln3017Leu)
c.6434A>T (p.Gln2145Leu)
c.9152A>T (p.Gln3051Leu)
c.9149A>T (p.Gln3050Leu)
c.9071A>T (p.Gln3024Leu)
c.9056A>T (p.Gln3019Leu)
c.2270A>T (p.Gln757Leu)
c.2249A>T (p.Gln750Leu)
n.9147A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.90712376G>ACA122804762ADGRV1c.9132G>A (p.Gln3044=)
c.265+36167G>A (n.265+36167G>A)
n.4591G>A
c.2939G>A
n.2276G>A
c.3861G>A
c.1829G>A
n.9145G>A
c.9129G>A (p.Gln3043=)
c.9051G>A (p.Gln3017=)
c.6435G>A (p.Gln2145=)
c.9153G>A (p.Gln3051=)
c.9150G>A (p.Gln3050=)
c.9072G>A (p.Gln3024=)
c.9057G>A (p.Gln3019=)
c.2271G>A (p.Gln757=)
c.2250G>A (p.Gln750=)
n.9148G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.90712376G>CCA360396318ADGRV1c.9132G>C (p.Gln3044His)
c.265+36167G>C (n.265+36167G>C)
n.4591G>C
c.2939G>C
n.2276G>C
c.3861G>C
c.1829G>C
n.9145G>C
c.9129G>C (p.Gln3043His)
c.9051G>C (p.Gln3017His)
c.6435G>C (p.Gln2145His)
c.9153G>C (p.Gln3051His)
c.9150G>C (p.Gln3050His)
c.9072G>C (p.Gln3024His)
c.9057G>C (p.Gln3019His)
c.2271G>C (p.Gln757His)
c.2250G>C (p.Gln750His)
n.9148G>C
5g.90712376G=CA1562867547ADGRV1c.9132G= (p.Gln3044=)
c.265+36167G= (n.265+36167G=)
n.4591G=
c.2939G=
n.2276G=
c.3861G=
c.1829G=
n.9145G=
c.9129G= (p.Gln3043=)
c.9051G= (p.Gln3017=)
c.6435G= (p.Gln2145=)
c.9153G= (p.Gln3051=)
c.9150G= (p.Gln3050=)
c.9072G= (p.Gln3024=)
c.9057G= (p.Gln3019=)
c.2271G= (p.Gln757=)
c.2250G= (p.Gln750=)
n.9148G=
5g.90712376G>TCA360396317ADGRV1c.9132G>T (p.Gln3044His)
c.265+36167G>T (n.265+36167G>T)
n.4591G>T
c.2939G>T
n.2276G>T
c.3861G>T
c.1829G>T
n.9145G>T
c.9129G>T (p.Gln3043His)
c.9051G>T (p.Gln3017His)
c.6435G>T (p.Gln2145His)
c.9153G>T (p.Gln3051His)
c.9150G>T (p.Gln3050His)
c.9072G>T (p.Gln3024His)
c.9057G>T (p.Gln3019His)
c.2271G>T (p.Gln757His)
c.2250G>T (p.Gln750His)
n.9148G>T
 gnomAD v4
5g.90712377C>ACA360396319ADGRV1c.9133C>A (p.Leu3045Met)
c.265+36168C>A (n.265+36168C>A)
n.4592C>A
c.2940C>A
n.2277C>A
c.3862C>A
c.1830C>A
n.9146C>A
c.9130C>A (p.Leu3044Met)
c.9052C>A (p.Leu3018Met)
c.6436C>A (p.Leu2146Met)
n.469G>T
c.9154C>A (p.Leu3052Met)
c.9151C>A (p.Leu3051Met)
c.9073C>A (p.Leu3025Met)
c.9058C>A (p.Leu3020Met)
c.2272C>A (p.Leu758Met)
c.2251C>A (p.Leu751Met)
n.9149C>A
 gnomAD v4
5g.90712377C>GCA360396320ADGRV1c.9133C>G (p.Leu3045Val)
c.265+36168C>G (n.265+36168C>G)
n.4592C>G
c.2940C>G
n.2277C>G
c.3862C>G
c.1830C>G
n.9146C>G
c.9130C>G (p.Leu3044Val)
c.9052C>G (p.Leu3018Val)
c.6436C>G (p.Leu2146Val)
n.469G>C
c.9154C>G (p.Leu3052Val)
c.9151C>G (p.Leu3051Val)
c.9073C>G (p.Leu3025Val)
c.9058C>G (p.Leu3020Val)
c.2272C>G (p.Leu758Val)
c.2251C>G (p.Leu751Val)
n.9149C>G
5g.90712377C>TCA445411981ADGRV1c.9133C>T (p.Leu3045=)
c.265+36168C>T (n.265+36168C>T)
n.4592C>T
c.2940C>T
n.2277C>T
c.3862C>T
c.1830C>T
n.9146C>T
c.9130C>T (p.Leu3044=)
c.9052C>T (p.Leu3018=)
c.6436C>T (p.Leu2146=)
n.469G>A
c.9154C>T (p.Leu3052=)
c.9151C>T (p.Leu3051=)
c.9073C>T (p.Leu3025=)
c.9058C>T (p.Leu3020=)
c.2272C>T (p.Leu758=)
c.2251C>T (p.Leu751=)
n.9149C>T
 gnomAD v4
5g.90712378T>ACA360396321ADGRV1c.9134T>A (p.Leu3045Gln)
c.265+36169T>A (n.265+36169T>A)
n.4593T>A
c.2941T>A
n.2278T>A
c.3863T>A
c.1831T>A
n.9147T>A
c.9131T>A (p.Leu3044Gln)
c.9053T>A (p.Leu3018Gln)
c.6437T>A (p.Leu2146Gln)
n.468A>T
c.9155T>A (p.Leu3052Gln)
c.9152T>A (p.Leu3051Gln)
c.9074T>A (p.Leu3025Gln)
c.9059T>A (p.Leu3020Gln)
c.2273T>A (p.Leu758Gln)
c.2252T>A (p.Leu751Gln)
n.9150T>A
5g.90712378T>CCA360396322ADGRV1c.9134T>C (p.Leu3045Pro)
c.265+36169T>C (n.265+36169T>C)
n.4593T>C
c.2941T>C
n.2278T>C
c.3863T>C
c.1831T>C
n.9147T>C
c.9131T>C (p.Leu3044Pro)
c.9053T>C (p.Leu3018Pro)
c.6437T>C (p.Leu2146Pro)
n.468A>G
c.9155T>C (p.Leu3052Pro)
c.9152T>C (p.Leu3051Pro)
c.9074T>C (p.Leu3025Pro)
c.9059T>C (p.Leu3020Pro)
c.2273T>C (p.Leu758Pro)
c.2252T>C (p.Leu751Pro)
n.9150T>C
 dbSNP gnomAD v3 gnomAD v4
5g.90712378T>GCA360396323ADGRV1c.9134T>G (p.Leu3045Arg)
c.265+36169T>G (n.265+36169T>G)
n.4593T>G
c.2941T>G
n.2278T>G
c.3863T>G
c.1831T>G
n.9147T>G
c.9131T>G (p.Leu3044Arg)
c.9053T>G (p.Leu3018Arg)
c.6437T>G (p.Leu2146Arg)
n.468A>C
c.9155T>G (p.Leu3052Arg)
c.9152T>G (p.Leu3051Arg)
c.9074T>G (p.Leu3025Arg)
c.9059T>G (p.Leu3020Arg)
c.2273T>G (p.Leu758Arg)
c.2252T>G (p.Leu751Arg)
n.9150T>G
5g.90712378T=CA1562867548ADGRV1c.9134T= (p.Leu3045=)
c.265+36169T= (n.265+36169T=)
n.4593T=
c.2941T=
n.2278T=
c.3863T=
c.1831T=
n.9147T=
c.9131T= (p.Leu3044=)
c.9053T= (p.Leu3018=)
c.6437T= (p.Leu2146=)
n.468A=
c.9155T= (p.Leu3052=)
c.9152T= (p.Leu3051=)
c.9074T= (p.Leu3025=)
c.9059T= (p.Leu3020=)
c.2273T= (p.Leu758=)
c.2252T= (p.Leu751=)
n.9150T=
5g.90712379G>ACA445411989ADGRV1c.9135G>A (p.Leu3045=)
c.265+36170G>A (n.265+36170G>A)
n.4594G>A
c.2942G>A
n.2279G>A
c.3864G>A
c.1832G>A
n.9148G>A
c.9132G>A (p.Leu3044=)
c.9054G>A (p.Leu3018=)
c.6438G>A (p.Leu2146=)
n.467C>T
c.9156G>A (p.Leu3052=)
c.9153G>A (p.Leu3051=)
c.9075G>A (p.Leu3025=)
c.9060G>A (p.Leu3020=)
c.2274G>A (p.Leu758=)
c.2253G>A (p.Leu751=)
n.9151G>A
 gnomAD v4
5g.90712379G>CCA445411990ADGRV1c.9135G>C (p.Leu3045=)
c.265+36170G>C (n.265+36170G>C)
n.4594G>C
c.2942G>C
n.2279G>C
c.3864G>C
c.1832G>C
n.9148G>C
c.9132G>C (p.Leu3044=)
c.9054G>C (p.Leu3018=)
c.6438G>C (p.Leu2146=)
n.467C>G
c.9156G>C (p.Leu3052=)
c.9153G>C (p.Leu3051=)
c.9075G>C (p.Leu3025=)
c.9060G>C (p.Leu3020=)
c.2274G>C (p.Leu758=)
c.2253G>C (p.Leu751=)
n.9151G>C
5g.90712379G=CA1562867549ADGRV1c.9135G= (p.Leu3045=)
c.265+36170G= (n.265+36170G=)
n.4594G=
c.2942G=
n.2279G=
c.3864G=
c.1832G=
n.9148G=
c.9132G= (p.Leu3044=)
c.9054G= (p.Leu3018=)
c.6438G= (p.Leu2146=)
n.467C=
c.9156G= (p.Leu3052=)
c.9153G= (p.Leu3051=)
c.9075G= (p.Leu3025=)
c.9060G= (p.Leu3020=)
c.2274G= (p.Leu758=)
c.2253G= (p.Leu751=)
n.9151G=
5g.90712379G>TCA3340448ADGRV1c.9135G>T (p.Leu3045=)
c.265+36170G>T (n.265+36170G>T)
n.4594G>T
c.2942G>T
n.2279G>T
c.3864G>T
c.1832G>T
n.9148G>T
c.9132G>T (p.Leu3044=)
c.9054G>T (p.Leu3018=)
c.6438G>T (p.Leu2146=)
n.467C>A
c.9156G>T (p.Leu3052=)
c.9153G>T (p.Leu3051=)
c.9075G>T (p.Leu3025=)
c.9060G>T (p.Leu3020=)
c.2274G>T (p.Leu758=)
c.2253G>T (p.Leu751=)
n.9151G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90712380A=CA1562867550ADGRV1c.9136A= (p.Ile3046=)
c.265+36171A= (n.265+36171A=)
n.4595A=
c.2943A=
n.2280A=
c.3865A=
c.1833A=
n.9149A=
c.9133A= (p.Ile3045=)
c.9055A= (p.Ile3019=)
c.6439A= (p.Ile2147=)
n.466T=
c.9157A= (p.Ile3053=)
c.9154A= (p.Ile3052=)
c.9076A= (p.Ile3026=)
c.9061A= (p.Ile3021=)
c.2275A= (p.Ile759=)
c.2254A= (p.Ile752=)
n.9152A=
5g.90712380A>CCA360396324ADGRV1c.9136A>C (p.Ile3046Leu)
c.265+36171A>C (n.265+36171A>C)
n.4595A>C
c.2943A>C
n.2280A>C
c.3865A>C
c.1833A>C
n.9149A>C
c.9133A>C (p.Ile3045Leu)
c.9055A>C (p.Ile3019Leu)
c.6439A>C (p.Ile2147Leu)
n.466T>G
c.9157A>C (p.Ile3053Leu)
c.9154A>C (p.Ile3052Leu)
c.9076A>C (p.Ile3026Leu)
c.9061A>C (p.Ile3021Leu)
c.2275A>C (p.Ile759Leu)
c.2254A>C (p.Ile752Leu)
n.9152A>C
5g.90712380A>GCA3340449ADGRV1c.9136A>G (p.Ile3046Val)
c.265+36171A>G (n.265+36171A>G)
n.4595A>G
c.2943A>G
n.2280A>G
c.3865A>G
c.1833A>G
n.9149A>G
c.9133A>G (p.Ile3045Val)
c.9055A>G (p.Ile3019Val)
c.6439A>G (p.Ile2147Val)
n.466T>C
c.9157A>G (p.Ile3053Val)
c.9154A>G (p.Ile3052Val)
c.9076A>G (p.Ile3026Val)
c.9061A>G (p.Ile3021Val)
c.2275A>G (p.Ile759Val)
c.2254A>G (p.Ile752Val)
n.9152A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90712380A>TCA360396325ADGRV1c.9136A>T (p.Ile3046Phe)
c.265+36171A>T (n.265+36171A>T)
n.4595A>T
c.2943A>T
n.2280A>T
c.3865A>T
c.1833A>T
n.9149A>T
c.9133A>T (p.Ile3045Phe)
c.9055A>T (p.Ile3019Phe)
c.6439A>T (p.Ile2147Phe)
n.466T>A
c.9157A>T (p.Ile3053Phe)
c.9154A>T (p.Ile3052Phe)
c.9076A>T (p.Ile3026Phe)
c.9061A>T (p.Ile3021Phe)
c.2275A>T (p.Ile759Phe)
c.2254A>T (p.Ile752Phe)
n.9152A>T
5g.90712381T>ACA360396326ADGRV1c.9137T>A (p.Ile3046Asn)
c.265+36172T>A (n.265+36172T>A)
n.4596T>A
c.2944T>A
n.2281T>A
c.3866T>A
c.1834T>A
n.9150T>A
c.9134T>A (p.Ile3045Asn)
c.9056T>A (p.Ile3019Asn)
c.6440T>A (p.Ile2147Asn)
n.465A>T
c.9158T>A (p.Ile3053Asn)
c.9155T>A (p.Ile3052Asn)
c.9077T>A (p.Ile3026Asn)
c.9062T>A (p.Ile3021Asn)
c.2276T>A (p.Ile759Asn)
c.2255T>A (p.Ile752Asn)
n.9153T>A
5g.90712381T>CCA360396327ADGRV1c.9137T>C (p.Ile3046Thr)
c.265+36172T>C (n.265+36172T>C)
n.4596T>C
c.2944T>C
n.2281T>C
c.3866T>C
c.1834T>C
n.9150T>C
c.9134T>C (p.Ile3045Thr)
c.9056T>C (p.Ile3019Thr)
c.6440T>C (p.Ile2147Thr)
n.465A>G
c.9158T>C (p.Ile3053Thr)
c.9155T>C (p.Ile3052Thr)
c.9077T>C (p.Ile3026Thr)
c.9062T>C (p.Ile3021Thr)
c.2276T>C (p.Ile759Thr)
c.2255T>C (p.Ile752Thr)
n.9153T>C
 gnomAD v4
5g.90712381T>GCA360396328ADGRV1c.9137T>G (p.Ile3046Ser)
c.265+36172T>G (n.265+36172T>G)
n.4596T>G
c.2944T>G
n.2281T>G
c.3866T>G
c.1834T>G
n.9150T>G
c.9134T>G (p.Ile3045Ser)
c.9056T>G (p.Ile3019Ser)
c.6440T>G (p.Ile2147Ser)
n.465A>C
c.9158T>G (p.Ile3053Ser)
c.9155T>G (p.Ile3052Ser)
c.9077T>G (p.Ile3026Ser)
c.9062T>G (p.Ile3021Ser)
c.2276T>G (p.Ile759Ser)
c.2255T>G (p.Ile752Ser)
n.9153T>G
5g.90712382T>ACA445411998ADGRV1c.9138T>A (p.Ile3046=)
c.265+36173T>A (n.265+36173T>A)
n.4597T>A
c.2945T>A
n.2282T>A
c.3867T>A
c.1835T>A
n.9151T>A
c.9135T>A (p.Ile3045=)
c.9057T>A (p.Ile3019=)
c.6441T>A (p.Ile2147=)
n.464A>T
c.9159T>A (p.Ile3053=)
c.9156T>A (p.Ile3052=)
c.9078T>A (p.Ile3026=)
c.9063T>A (p.Ile3021=)
c.2277T>A (p.Ile759=)
c.2256T>A (p.Ile752=)
n.9154T>A
5g.90712382T>CCA445412000ADGRV1c.9138T>C (p.Ile3046=)
c.265+36173T>C (n.265+36173T>C)
n.4597T>C
c.2945T>C
n.2282T>C
c.3867T>C
c.1835T>C
n.9151T>C
c.9135T>C (p.Ile3045=)
c.9057T>C (p.Ile3019=)
c.6441T>C (p.Ile2147=)
n.464A>G
c.9159T>C (p.Ile3053=)
c.9156T>C (p.Ile3052=)
c.9078T>C (p.Ile3026=)
c.9063T>C (p.Ile3021=)
c.2277T>C (p.Ile759=)
c.2256T>C (p.Ile752=)
n.9154T>C
5g.90712382T>GCA360396329ADGRV1c.9138T>G (p.Ile3046Met)
c.265+36173T>G (n.265+36173T>G)
n.4597T>G
c.2945T>G
n.2282T>G
c.3867T>G
c.1835T>G
n.9151T>G
c.9135T>G (p.Ile3045Met)
c.9057T>G (p.Ile3019Met)
c.6441T>G (p.Ile2147Met)
n.464A>C
c.9159T>G (p.Ile3053Met)
c.9156T>G (p.Ile3052Met)
c.9078T>G (p.Ile3026Met)
c.9063T>G (p.Ile3021Met)
c.2277T>G (p.Ile759Met)
c.2256T>G (p.Ile752Met)
n.9154T>G
5g.90712383T>ACA360396330ADGRV1c.9139T>A (p.Leu3047Ile)
c.265+36174T>A (n.265+36174T>A)
n.4598T>A
c.2946T>A
n.2283T>A
c.3868T>A
c.1836T>A
n.9152T>A
c.9136T>A (p.Leu3046Ile)
c.9058T>A (p.Leu3020Ile)
c.6442T>A (p.Leu2148Ile)
n.463A>T
c.9160T>A (p.Leu3054Ile)
c.9157T>A (p.Leu3053Ile)
c.9079T>A (p.Leu3027Ile)
c.9064T>A (p.Leu3022Ile)
c.2278T>A (p.Leu760Ile)
c.2257T>A (p.Leu753Ile)
n.9155T>A
5g.90712383T>CCA445412005ADGRV1c.9139T>C (p.Leu3047=)
c.265+36174T>C (n.265+36174T>C)
n.4598T>C
c.2946T>C
n.2283T>C
c.3868T>C
c.1836T>C
n.9152T>C
c.9136T>C (p.Leu3046=)
c.9058T>C (p.Leu3020=)
c.6442T>C (p.Leu2148=)
n.463A>G
c.9160T>C (p.Leu3054=)
c.9157T>C (p.Leu3053=)
c.9079T>C (p.Leu3027=)
c.9064T>C (p.Leu3022=)
c.2278T>C (p.Leu760=)
c.2257T>C (p.Leu753=)
n.9155T>C
5g.90712383T>GCA360396331ADGRV1c.9139T>G (p.Leu3047Val)
c.265+36174T>G (n.265+36174T>G)
n.4598T>G
c.2946T>G
n.2283T>G
c.3868T>G
c.1836T>G
n.9152T>G
c.9136T>G (p.Leu3046Val)
c.9058T>G (p.Leu3020Val)
c.6442T>G (p.Leu2148Val)
n.463A>C
c.9160T>G (p.Leu3054Val)
c.9157T>G (p.Leu3053Val)
c.9079T>G (p.Leu3027Val)
c.9064T>G (p.Leu3022Val)
c.2278T>G (p.Leu760Val)
c.2257T>G (p.Leu753Val)
n.9155T>G
5g.90712384T>ACA360396332ADGRV1c.9140T>A (p.Leu3047Ter)
c.265+36175T>A (n.265+36175T>A)
n.4599T>A
c.2947T>A
n.2284T>A
c.3869T>A
c.1837T>A
n.9153T>A
c.9137T>A (p.Leu3046Ter)
c.9059T>A (p.Leu3020Ter)
c.6443T>A (p.Leu2148Ter)
n.462A>T
c.9161T>A (p.Leu3054Ter)
c.9158T>A (p.Leu3053Ter)
c.9080T>A (p.Leu3027Ter)
c.9065T>A (p.Leu3022Ter)
c.2279T>A (p.Leu760Ter)
c.2258T>A (p.Leu753Ter)
n.9156T>A
5g.90712384T>CCA360396333ADGRV1c.9140T>C (p.Leu3047Ser)
c.265+36175T>C (n.265+36175T>C)
n.4599T>C
c.2947T>C
n.2284T>C
c.3869T>C
c.1837T>C
n.9153T>C
c.9137T>C (p.Leu3046Ser)
c.9059T>C (p.Leu3020Ser)
c.6443T>C (p.Leu2148Ser)
n.462A>G
c.9161T>C (p.Leu3054Ser)
c.9158T>C (p.Leu3053Ser)
c.9080T>C (p.Leu3027Ser)
c.9065T>C (p.Leu3022Ser)
c.2279T>C (p.Leu760Ser)
c.2258T>C (p.Leu753Ser)
n.9156T>C
 gnomAD v4
5g.90712384T>GCA122804764ADGRV1c.9140T>G (p.Leu3047Ter)
c.265+36175T>G (n.265+36175T>G)
n.4599T>G
c.2947T>G
n.2284T>G
c.3869T>G
c.1837T>G
n.9153T>G
c.9137T>G (p.Leu3046Ter)
c.9059T>G (p.Leu3020Ter)
c.6443T>G (p.Leu2148Ter)
n.462A>C
c.9161T>G (p.Leu3054Ter)
c.9158T>G (p.Leu3053Ter)
c.9080T>G (p.Leu3027Ter)
c.9065T>G (p.Leu3022Ter)
c.2279T>G (p.Leu760Ter)
c.2258T>G (p.Leu753Ter)
n.9156T>G
 dbSNP gnomAD v4
5g.90712384T=CA1562867551ADGRV1c.9140T= (p.Leu3047=)
c.265+36175T= (n.265+36175T=)
n.4599T=
c.2947T=
n.2284T=
c.3869T=
c.1837T=
n.9153T=
c.9137T= (p.Leu3046=)
c.9059T= (p.Leu3020=)
c.6443T= (p.Leu2148=)
n.462A=
c.9161T= (p.Leu3054=)
c.9158T= (p.Leu3053=)
c.9080T= (p.Leu3027=)
c.9065T= (p.Leu3022=)
c.2279T= (p.Leu760=)
c.2258T= (p.Leu753=)
n.9156T=
5g.90712385A=CA1562867552ADGRV1c.9141A= (p.Leu3047=)
c.265+36176A= (n.265+36176A=)
n.4600A=
c.2948A=
n.2285A=
c.3870A=
c.1838A=
n.9154A=
c.9138A= (p.Leu3046=)
c.9060A= (p.Leu3020=)
c.6444A= (p.Leu2148=)
n.461T=
c.9162A= (p.Leu3054=)
c.9159A= (p.Leu3053=)
c.9081A= (p.Leu3027=)
c.9066A= (p.Leu3022=)
c.2280A= (p.Leu760=)
c.2259A= (p.Leu753=)
n.9157A=
5g.90712385A>CCA360396334ADGRV1c.9141A>C (p.Leu3047Phe)
c.265+36176A>C (n.265+36176A>C)
n.4600A>C
c.2948A>C
n.2285A>C
c.3870A>C
c.1838A>C
n.9154A>C
c.9138A>C (p.Leu3046Phe)
c.9060A>C (p.Leu3020Phe)
c.6444A>C (p.Leu2148Phe)
n.461T>G
c.9162A>C (p.Leu3054Phe)
c.9159A>C (p.Leu3053Phe)
c.9081A>C (p.Leu3027Phe)
c.9066A>C (p.Leu3022Phe)
c.2280A>C (p.Leu760Phe)
c.2259A>C (p.Leu753Phe)
n.9157A>C
5g.90712385A>GCA445412014ADGRV1c.9141A>G (p.Leu3047=)
c.265+36176A>G (n.265+36176A>G)
n.4600A>G
c.2948A>G
n.2285A>G
c.3870A>G
c.1838A>G
n.9154A>G
c.9138A>G (p.Leu3046=)
c.9060A>G (p.Leu3020=)
c.6444A>G (p.Leu2148=)
n.461T>C
c.9162A>G (p.Leu3054=)
c.9159A>G (p.Leu3053=)
c.9081A>G (p.Leu3027=)
c.9066A>G (p.Leu3022=)
c.2280A>G (p.Leu760=)
c.2259A>G (p.Leu753=)
n.9157A>G
5g.90712385A>TCA3340450ADGRV1c.9141A>T (p.Leu3047Phe)
c.265+36176A>T (n.265+36176A>T)
n.4600A>T
c.2948A>T
n.2285A>T
c.3870A>T
c.1838A>T
n.9154A>T
c.9138A>T (p.Leu3046Phe)
c.9060A>T (p.Leu3020Phe)
c.6444A>T (p.Leu2148Phe)
n.461T>A
c.9162A>T (p.Leu3054Phe)
c.9159A>T (p.Leu3053Phe)
c.9081A>T (p.Leu3027Phe)
c.9066A>T (p.Leu3022Phe)
c.2280A>T (p.Leu760Phe)
c.2259A>T (p.Leu753Phe)
n.9157A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90712386A>CCA360396335ADGRV1c.9142A>C (p.Thr3048Pro)
c.265+36177A>C (n.265+36177A>C)
n.4601A>C
c.2949A>C
n.2286A>C
c.3871A>C
c.1839A>C
n.9155A>C
c.9139A>C (p.Thr3047Pro)
c.9061A>C (p.Thr3021Pro)
c.6445A>C (p.Thr2149Pro)
n.460T>G
c.9163A>C (p.Thr3055Pro)
c.9160A>C (p.Thr3054Pro)
c.9082A>C (p.Thr3028Pro)
c.9067A>C (p.Thr3023Pro)
c.2281A>C (p.Thr761Pro)
c.2260A>C (p.Thr754Pro)
n.9158A>C
5g.90712386A>GCA360396336ADGRV1c.9142A>G (p.Thr3048Ala)
c.265+36177A>G (n.265+36177A>G)
n.4601A>G
c.2949A>G
n.2286A>G
c.3871A>G
c.1839A>G
n.9155A>G
c.9139A>G (p.Thr3047Ala)
c.9061A>G (p.Thr3021Ala)
c.6445A>G (p.Thr2149Ala)
n.460T>C
c.9163A>G (p.Thr3055Ala)
c.9160A>G (p.Thr3054Ala)
c.9082A>G (p.Thr3028Ala)
c.9067A>G (p.Thr3023Ala)
c.2281A>G (p.Thr761Ala)
c.2260A>G (p.Thr754Ala)
n.9158A>G
5g.90712386A>TCA360396337ADGRV1c.9142A>T (p.Thr3048Ser)
c.265+36177A>T (n.265+36177A>T)
n.4601A>T
c.2949A>T
n.2286A>T
c.3871A>T
c.1839A>T
n.9155A>T
c.9139A>T (p.Thr3047Ser)
c.9061A>T (p.Thr3021Ser)
c.6445A>T (p.Thr2149Ser)
n.460T>A
c.9163A>T (p.Thr3055Ser)
c.9160A>T (p.Thr3054Ser)
c.9082A>T (p.Thr3028Ser)
c.9067A>T (p.Thr3023Ser)
c.2281A>T (p.Thr761Ser)
c.2260A>T (p.Thr754Ser)
n.9158A>T
5g.90712387C>ACA360396338ADGRV1c.9143C>A (p.Thr3048Lys)
c.265+36178C>A (n.265+36178C>A)
n.4602C>A
c.2950C>A
n.2287C>A
c.3872C>A
c.1840C>A
n.9156C>A
c.9140C>A (p.Thr3047Lys)
c.9062C>A (p.Thr3021Lys)
c.6446C>A (p.Thr2149Lys)
n.459G>T
c.9164C>A (p.Thr3055Lys)
c.9161C>A (p.Thr3054Lys)
c.9083C>A (p.Thr3028Lys)
c.9068C>A (p.Thr3023Lys)
c.2282C>A (p.Thr761Lys)
c.2261C>A (p.Thr754Lys)
n.9159C>A
 gnomAD v4
5g.90712387C=CA1562867553ADGRV1c.9143C= (p.Thr3048=)
c.265+36178C= (n.265+36178C=)
n.4602C=
c.2950C=
n.2287C=
c.3872C=
c.1840C=
n.9156C=
c.9140C= (p.Thr3047=)
c.9062C= (p.Thr3021=)
c.6446C= (p.Thr2149=)
n.459G=
c.9164C= (p.Thr3055=)
c.9161C= (p.Thr3054=)
c.9083C= (p.Thr3028=)
c.9068C= (p.Thr3023=)
c.2282C= (p.Thr761=)
c.2261C= (p.Thr754=)
n.9159C=
5g.90712387C>GCA360396339ADGRV1c.9143C>G (p.Thr3048Arg)
c.265+36178C>G (n.265+36178C>G)
n.4602C>G
c.2950C>G
n.2287C>G
c.3872C>G
c.1840C>G
n.9156C>G
c.9140C>G (p.Thr3047Arg)
c.9062C>G (p.Thr3021Arg)
c.6446C>G (p.Thr2149Arg)
n.459G>C
c.9164C>G (p.Thr3055Arg)
c.9161C>G (p.Thr3054Arg)
c.9083C>G (p.Thr3028Arg)
c.9068C>G (p.Thr3023Arg)
c.2282C>G (p.Thr761Arg)
c.2261C>G (p.Thr754Arg)
n.9159C>G
 ClinVar dbSNP gnomAD v4
5g.90712387C>TCA360396340ADGRV1c.9143C>T (p.Thr3048Ile)
c.265+36178C>T (n.265+36178C>T)
n.4602C>T
c.2950C>T
n.2287C>T
c.3872C>T
c.1840C>T
n.9156C>T
c.9140C>T (p.Thr3047Ile)
c.9062C>T (p.Thr3021Ile)
c.6446C>T (p.Thr2149Ile)
n.459G>A
c.9164C>T (p.Thr3055Ile)
c.9161C>T (p.Thr3054Ile)
c.9083C>T (p.Thr3028Ile)
c.9068C>T (p.Thr3023Ile)
c.2282C>T (p.Thr761Ile)
c.2261C>T (p.Thr754Ile)
n.9159C>T
 gnomAD v4
5g.90712388A>CCA445412024ADGRV1c.9144A>C (p.Thr3048=)
c.265+36179A>C (n.265+36179A>C)
n.4603A>C
c.2951A>C
n.2288A>C
c.3873A>C
c.1841A>C
n.9157A>C
c.9141A>C (p.Thr3047=)
c.9063A>C (p.Thr3021=)
c.6447A>C (p.Thr2149=)
n.458T>G
c.9165A>C (p.Thr3055=)
c.9162A>C (p.Thr3054=)
c.9084A>C (p.Thr3028=)
c.9069A>C (p.Thr3023=)
c.2283A>C (p.Thr761=)
c.2262A>C (p.Thr754=)
n.9160A>C
5g.90712388A>GCA445412028ADGRV1c.9144A>G (p.Thr3048=)
c.265+36179A>G (n.265+36179A>G)
n.4603A>G
c.2951A>G
n.2288A>G
c.3873A>G
c.1841A>G
n.9157A>G
c.9141A>G (p.Thr3047=)
c.9063A>G (p.Thr3021=)
c.6447A>G (p.Thr2149=)
n.458T>C
c.9165A>G (p.Thr3055=)
c.9162A>G (p.Thr3054=)
c.9084A>G (p.Thr3028=)
c.9069A>G (p.Thr3023=)
c.2283A>G (p.Thr761=)
c.2262A>G (p.Thr754=)
n.9160A>G
5g.90712388A>TCA445412026ADGRV1c.9144A>T (p.Thr3048=)
c.265+36179A>T (n.265+36179A>T)
n.4603A>T
c.2951A>T
n.2288A>T
c.3873A>T
c.1841A>T
n.9157A>T
c.9141A>T (p.Thr3047=)
c.9063A>T (p.Thr3021=)
c.6447A>T (p.Thr2149=)
n.458T>A
c.9165A>T (p.Thr3055=)
c.9162A>T (p.Thr3054=)
c.9084A>T (p.Thr3028=)
c.9069A>T (p.Thr3023=)
c.2283A>T (p.Thr761=)
c.2262A>T (p.Thr754=)
n.9160A>T
5g.90712389A>CCA360396343ADGRV1c.9145A>C (p.Asn3049His)
c.265+36180A>C (n.265+36180A>C)
n.4604A>C
c.2952A>C
n.2289A>C
c.3874A>C
c.1842A>C
n.9158A>C
c.9142A>C (p.Asn3048His)
c.9064A>C (p.Asn3022His)
c.6448A>C (p.Asn2150His)
n.457T>G
c.9166A>C (p.Asn3056His)
c.9163A>C (p.Asn3055His)
c.9085A>C (p.Asn3029His)
c.9070A>C (p.Asn3024His)
c.2284A>C (p.Asn762His)
c.2263A>C (p.Asn755His)
n.9161A>C
5g.90712389A>GCA360396342ADGRV1c.9145A>G (p.Asn3049Asp)
c.265+36180A>G (n.265+36180A>G)
n.4604A>G
c.2952A>G
n.2289A>G
c.3874A>G
c.1842A>G
n.9158A>G
c.9142A>G (p.Asn3048Asp)
c.9064A>G (p.Asn3022Asp)
c.6448A>G (p.Asn2150Asp)
n.457T>C
c.9166A>G (p.Asn3056Asp)
c.9163A>G (p.Asn3055Asp)
c.9085A>G (p.Asn3029Asp)
c.9070A>G (p.Asn3024Asp)
c.2284A>G (p.Asn762Asp)
c.2263A>G (p.Asn755Asp)
n.9161A>G
 gnomAD v4
5g.90712389A>TCA360396341ADGRV1c.9145A>T (p.Asn3049Tyr)
c.265+36180A>T (n.265+36180A>T)
n.4604A>T
c.2952A>T
n.2289A>T
c.3874A>T
c.1842A>T
n.9158A>T
c.9142A>T (p.Asn3048Tyr)
c.9064A>T (p.Asn3022Tyr)
c.6448A>T (p.Asn2150Tyr)
n.457T>A
c.9166A>T (p.Asn3056Tyr)
c.9163A>T (p.Asn3055Tyr)
c.9085A>T (p.Asn3029Tyr)
c.9070A>T (p.Asn3024Tyr)
c.2284A>T (p.Asn762Tyr)
c.2263A>T (p.Asn755Tyr)
n.9161A>T
5g.90712390A=CA1562867554ADGRV1c.9146A= (p.Asn3049=)
c.265+36181A= (n.265+36181A=)
n.4605A=
c.2953A=
n.2290A=
c.3875A=
c.1843A=
n.9159A=
c.9143A= (p.Asn3048=)
c.9065A= (p.Asn3022=)
c.6449A= (p.Asn2150=)
n.456T=
c.9167A= (p.Asn3056=)
c.9164A= (p.Asn3055=)
c.9086A= (p.Asn3029=)
c.9071A= (p.Asn3024=)
c.2285A= (p.Asn762=)
c.2264A= (p.Asn755=)
n.9162A=
5g.90712390A>CCA360396344ADGRV1c.9146A>C (p.Asn3049Thr)
c.265+36181A>C (n.265+36181A>C)
n.4605A>C
c.2953A>C
n.2290A>C
c.3875A>C
c.1843A>C
n.9159A>C
c.9143A>C (p.Asn3048Thr)
c.9065A>C (p.Asn3022Thr)
c.6449A>C (p.Asn2150Thr)
n.456T>G
c.9167A>C (p.Asn3056Thr)
c.9164A>C (p.Asn3055Thr)
c.9086A>C (p.Asn3029Thr)
c.9071A>C (p.Asn3024Thr)
c.2285A>C (p.Asn762Thr)
c.2264A>C (p.Asn755Thr)
n.9162A>C
5g.90712390A>GCA360396345ADGRV1c.9146A>G (p.Asn3049Ser)
c.265+36181A>G (n.265+36181A>G)
n.4605A>G
c.2953A>G
n.2290A>G
c.3875A>G
c.1843A>G
n.9159A>G
c.9143A>G (p.Asn3048Ser)
c.9065A>G (p.Asn3022Ser)
c.6449A>G (p.Asn2150Ser)
n.456T>C
c.9167A>G (p.Asn3056Ser)
c.9164A>G (p.Asn3055Ser)
c.9086A>G (p.Asn3029Ser)
c.9071A>G (p.Asn3024Ser)
c.2285A>G (p.Asn762Ser)
c.2264A>G (p.Asn755Ser)
n.9162A>G
 dbSNP
5g.90712390A>TCA360396346ADGRV1c.9146A>T (p.Asn3049Ile)
c.265+36181A>T (n.265+36181A>T)
n.4605A>T
c.2953A>T
n.2290A>T
c.3875A>T
c.1843A>T
n.9159A>T
c.9143A>T (p.Asn3048Ile)
c.9065A>T (p.Asn3022Ile)
c.6449A>T (p.Asn2150Ile)
n.456T>A
c.9167A>T (p.Asn3056Ile)
c.9164A>T (p.Asn3055Ile)
c.9086A>T (p.Asn3029Ile)
c.9071A>T (p.Asn3024Ile)
c.2285A>T (p.Asn762Ile)
c.2264A>T (p.Asn755Ile)
n.9162A>T
5g.90712391T>ACA360396347ADGRV1c.9147T>A (p.Asn3049Lys)
c.265+36182T>A (n.265+36182T>A)
n.4606T>A
c.2954T>A
n.2291T>A
c.3876T>A
c.1844T>A
n.9160T>A
c.9144T>A (p.Asn3048Lys)
c.9066T>A (p.Asn3022Lys)
c.6450T>A (p.Asn2150Lys)
n.455A>T
c.9168T>A (p.Asn3056Lys)
c.9165T>A (p.Asn3055Lys)
c.9087T>A (p.Asn3029Lys)
c.9072T>A (p.Asn3024Lys)
c.2286T>A (p.Asn762Lys)
c.2265T>A (p.Asn755Lys)
n.9163T>A
5g.90712391T>CCA445412036ADGRV1c.9147T>C (p.Asn3049=)
c.265+36182T>C (n.265+36182T>C)
n.4606T>C
c.2954T>C
n.2291T>C
c.3876T>C
c.1844T>C
n.9160T>C
c.9144T>C (p.Asn3048=)
c.9066T>C (p.Asn3022=)
c.6450T>C (p.Asn2150=)
n.455A>G
c.9168T>C (p.Asn3056=)
c.9165T>C (p.Asn3055=)
c.9087T>C (p.Asn3029=)
c.9072T>C (p.Asn3024=)
c.2286T>C (p.Asn762=)
c.2265T>C (p.Asn755=)
n.9163T>C
 gnomAD v4
5g.90712391T>GCA360396348ADGRV1c.9147T>G (p.Asn3049Lys)
c.265+36182T>G (n.265+36182T>G)
n.4606T>G
c.2954T>G
n.2291T>G
c.3876T>G
c.1844T>G
n.9160T>G
c.9144T>G (p.Asn3048Lys)
c.9066T>G (p.Asn3022Lys)
c.6450T>G (p.Asn2150Lys)
n.455A>C
c.9168T>G (p.Asn3056Lys)
c.9165T>G (p.Asn3055Lys)
c.9087T>G (p.Asn3029Lys)
c.9072T>G (p.Asn3024Lys)
c.2286T>G (p.Asn762Lys)
c.2265T>G (p.Asn755Lys)
n.9163T>G
5g.90712392_90712411dupCA2674570180ADGRV1c.9148_9167dup (p.Gly3057LeufsTer5)
c.265+36183_265+36202dup (n.265+36183_265+36202dup)
n.4607_4626dup
c.2955_2974dup
n.2292_2311dup
c.3877_3896dup
c.1845_1864dup
n.9161_9180dup
c.9145_9164dup (p.Gly3056LeufsTer5)
c.9067_9086dup (p.Gly3030LeufsTer5)
c.6451_6470dup (p.Gly2158LeufsTer5)
n.437-1_455dup
c.9169_9188dup (p.Gly3064LeufsTer5)
c.9166_9185dup (p.Gly3063LeufsTer5)
c.9088_9107dup (p.Gly3037LeufsTer5)
c.9073_9092dup (p.Gly3032LeufsTer5)
c.2287_2306dup (p.Gly770LeufsTer5)
c.2266_2285dup (p.Gly763LeufsTer5)
n.9164_9183dup
 gnomAD v4
5g.90712392C>ACA360396350ADGRV1c.9148C>A (p.Pro3050Thr)
c.265+36183C>A (n.265+36183C>A)
n.4607C>A
c.2955C>A
n.2292C>A
c.3877C>A
c.1845C>A
n.9161C>A
c.9145C>A (p.Pro3049Thr)
c.9067C>A (p.Pro3023Thr)
c.6451C>A (p.Pro2151Thr)
n.454G>T
c.9169C>A (p.Pro3057Thr)
c.9166C>A (p.Pro3056Thr)
c.9088C>A (p.Pro3030Thr)
c.9073C>A (p.Pro3025Thr)
c.2287C>A (p.Pro763Thr)
c.2266C>A (p.Pro756Thr)
n.9164C>A
 dbSNP gnomAD v2 gnomAD v4
5g.90712392C=CA1562867555ADGRV1c.9148C= (p.Pro3050=)
c.265+36183C= (n.265+36183C=)
n.4607C=
c.2955C=
n.2292C=
c.3877C=
c.1845C=
n.9161C=
c.9145C= (p.Pro3049=)
c.9067C= (p.Pro3023=)
c.6451C= (p.Pro2151=)
n.454G=
c.9169C= (p.Pro3057=)
c.9166C= (p.Pro3056=)
c.9088C= (p.Pro3030=)
c.9073C= (p.Pro3025=)
c.2287C= (p.Pro763=)
c.2266C= (p.Pro756=)
n.9164C=
5g.90712392C>GCA360396349ADGRV1c.9148C>G (p.Pro3050Ala)
c.265+36183C>G (n.265+36183C>G)
n.4607C>G
c.2955C>G
n.2292C>G
c.3877C>G
c.1845C>G
n.9161C>G
c.9145C>G (p.Pro3049Ala)
c.9067C>G (p.Pro3023Ala)
c.6451C>G (p.Pro2151Ala)
n.454G>C
c.9169C>G (p.Pro3057Ala)
c.9166C>G (p.Pro3056Ala)
c.9088C>G (p.Pro3030Ala)
c.9073C>G (p.Pro3025Ala)
c.2287C>G (p.Pro763Ala)
c.2266C>G (p.Pro756Ala)
n.9164C>G
5g.90712392C>TCA122804767ADGRV1c.9148C>T (p.Pro3050Ser)
c.265+36183C>T (n.265+36183C>T)
n.4607C>T
c.2955C>T
n.2292C>T
c.3877C>T
c.1845C>T
n.9161C>T
c.9145C>T (p.Pro3049Ser)
c.9067C>T (p.Pro3023Ser)
c.6451C>T (p.Pro2151Ser)
n.454G>A
c.9169C>T (p.Pro3057Ser)
c.9166C>T (p.Pro3056Ser)
c.9088C>T (p.Pro3030Ser)
c.9073C>T (p.Pro3025Ser)
c.2287C>T (p.Pro763Ser)
c.2266C>T (p.Pro756Ser)
n.9164C>T
 dbSNP COSMIC
5g.90712392_90712395delinsCCTTCA1562867556ADGRV1c.9148_9151delinsCCTT (p.Pro3050=)
c.265+36183_265+36186delinsCCTT (n.265+36183_265+36186delinsCCTT)
n.4607_4610delinsCCTT
c.2955_2958delinsCCTT
n.2292_2295delinsCCTT
c.3877_3880delinsCCTT
c.1845_1848delinsCCTT
n.9161_9164delinsCCTT
c.9145_9148delinsCCTT (p.Pro3049=)
c.9067_9070delinsCCTT (p.Pro3023=)
c.6451_6454delinsCCTT (p.Pro2151=)
n.451_454delinsAAGG
c.9169_9172delinsCCTT (p.Pro3057=)
c.9166_9169delinsCCTT (p.Pro3056=)
c.9088_9091delinsCCTT (p.Pro3030=)
c.9073_9076delinsCCTT (p.Pro3025=)
c.2287_2290delinsCCTT (p.Pro763=)
c.2266_2269delinsCCTT (p.Pro756=)
n.9164_9167delinsCCTT
5g.90712393C>ACA360396351ADGRV1c.9149C>A (p.Pro3050His)
c.265+36184C>A (n.265+36184C>A)
n.4608C>A
c.2956C>A
n.2293C>A
c.3878C>A
c.1846C>A
n.9162C>A
c.9146C>A (p.Pro3049His)
c.9068C>A (p.Pro3023His)
c.6452C>A (p.Pro2151His)
n.453G>T
c.9170C>A (p.Pro3057His)
c.9167C>A (p.Pro3056His)
c.9089C>A (p.Pro3030His)
c.9074C>A (p.Pro3025His)
c.2288C>A (p.Pro763His)
c.2267C>A (p.Pro756His)
n.9165C>A
 gnomAD v4
5g.90712393C>GCA360396352ADGRV1c.9149C>G (p.Pro3050Arg)
c.265+36184C>G (n.265+36184C>G)
n.4608C>G
c.2956C>G
n.2293C>G
c.3878C>G
c.1846C>G
n.9162C>G
c.9146C>G (p.Pro3049Arg)
c.9068C>G (p.Pro3023Arg)
c.6452C>G (p.Pro2151Arg)
n.453G>C
c.9170C>G (p.Pro3057Arg)
c.9167C>G (p.Pro3056Arg)
c.9089C>G (p.Pro3030Arg)
c.9074C>G (p.Pro3025Arg)
c.2288C>G (p.Pro763Arg)
c.2267C>G (p.Pro756Arg)
n.9165C>G
5g.90712393C>TCA360396353ADGRV1c.9149C>T (p.Pro3050Leu)
c.265+36184C>T (n.265+36184C>T)
n.4608C>T
c.2956C>T
n.2293C>T
c.3878C>T
c.1846C>T
n.9162C>T
c.9146C>T (p.Pro3049Leu)
c.9068C>T (p.Pro3023Leu)
c.6452C>T (p.Pro2151Leu)
n.453G>A
c.9170C>T (p.Pro3057Leu)
c.9167C>T (p.Pro3056Leu)
c.9089C>T (p.Pro3030Leu)
c.9074C>T (p.Pro3025Leu)
c.2288C>T (p.Pro763Leu)
c.2267C>T (p.Pro756Leu)
n.9165C>T
 gnomAD v4 COSMIC
5g.90712395_90712397delCA917526326ADGRV1c.9151_9153del (p.Ser3051del)
c.265+36186_265+36188del (n.265+36186_265+36188del)
n.4610_4612del
c.2958_2960del
n.2295_2297del
c.3880_3882del
c.1848_1850del
n.9164_9166del
c.9148_9150del (p.Ser3050del)
c.9070_9072del (p.Ser3024del)
c.6454_6456del (p.Ser2152del)
n.451_453del
c.9172_9174del (p.Ser3058del)
c.9169_9171del (p.Ser3057del)
c.9091_9093del (p.Ser3031del)
c.9076_9078del (p.Ser3026del)
c.2290_2292del (p.Ser764del)
c.2269_2271del (p.Ser757del)
n.9167_9169del
 dbSNP gnomAD v3 gnomAD v4
5g.90712394T>ACA445412046ADGRV1c.9150T>A (p.Pro3050=)
c.265+36185T>A (n.265+36185T>A)
n.4609T>A
c.2957T>A
n.2294T>A
c.3879T>A
c.1847T>A
n.9163T>A
c.9147T>A (p.Pro3049=)
c.9069T>A (p.Pro3023=)
c.6453T>A (p.Pro2151=)
n.452A>T
c.9171T>A (p.Pro3057=)
c.9168T>A (p.Pro3056=)
c.9090T>A (p.Pro3030=)
c.9075T>A (p.Pro3025=)
c.2289T>A (p.Pro763=)
c.2268T>A (p.Pro756=)
n.9166T>A
5g.90712394T>CCA445412048ADGRV1c.9150T>C (p.Pro3050=)
c.265+36185T>C (n.265+36185T>C)
n.4609T>C
c.2957T>C
n.2294T>C
c.3879T>C
c.1847T>C
n.9163T>C
c.9147T>C (p.Pro3049=)
c.9069T>C (p.Pro3023=)
c.6453T>C (p.Pro2151=)
n.452A>G
c.9171T>C (p.Pro3057=)
c.9168T>C (p.Pro3056=)
c.9090T>C (p.Pro3030=)
c.9075T>C (p.Pro3025=)
c.2289T>C (p.Pro763=)
c.2268T>C (p.Pro756=)
n.9166T>C
5g.90712394T>GCA445412047ADGRV1c.9150T>G (p.Pro3050=)
c.265+36185T>G (n.265+36185T>G)
n.4609T>G
c.2957T>G
n.2294T>G
c.3879T>G
c.1847T>G
n.9163T>G
c.9147T>G (p.Pro3049=)
c.9069T>G (p.Pro3023=)
c.6453T>G (p.Pro2151=)
n.452A>C
c.9171T>G (p.Pro3057=)
c.9168T>G (p.Pro3056=)
c.9090T>G (p.Pro3030=)
c.9075T>G (p.Pro3025=)
c.2289T>G (p.Pro763=)
c.2268T>G (p.Pro756=)
n.9166T>G
5g.90712395T>ACA360396354ADGRV1c.9151T>A (p.Ser3051Thr)
c.265+36186T>A (n.265+36186T>A)
n.4610T>A
c.2958T>A
n.2295T>A
c.3880T>A
c.1848T>A
n.9164T>A
c.9148T>A (p.Ser3050Thr)
c.9070T>A (p.Ser3024Thr)
c.6454T>A (p.Ser2152Thr)
n.451A>T
c.9172T>A (p.Ser3058Thr)
c.9169T>A (p.Ser3057Thr)
c.9091T>A (p.Ser3031Thr)
c.9076T>A (p.Ser3026Thr)
c.2290T>A (p.Ser764Thr)
c.2269T>A (p.Ser757Thr)
n.9167T>A
 gnomAD v4
5g.90712395T>CCA360396355ADGRV1c.9151T>C (p.Ser3051Pro)
c.265+36186T>C (n.265+36186T>C)
n.4610T>C
c.2958T>C
n.2295T>C
c.3880T>C
c.1848T>C
n.9164T>C
c.9148T>C (p.Ser3050Pro)
c.9070T>C (p.Ser3024Pro)
c.6454T>C (p.Ser2152Pro)
n.451A>G
c.9172T>C (p.Ser3058Pro)
c.9169T>C (p.Ser3057Pro)
c.9091T>C (p.Ser3031Pro)
c.9076T>C (p.Ser3026Pro)
c.2290T>C (p.Ser764Pro)
c.2269T>C (p.Ser757Pro)
n.9167T>C
5g.90712395T>GCA360396356ADGRV1c.9151T>G (p.Ser3051Ala)
c.265+36186T>G (n.265+36186T>G)
n.4610T>G
c.2958T>G
n.2295T>G
c.3880T>G
c.1848T>G
n.9164T>G
c.9148T>G (p.Ser3050Ala)
c.9070T>G (p.Ser3024Ala)
c.6454T>G (p.Ser2152Ala)
n.451A>C
c.9172T>G (p.Ser3058Ala)
c.9169T>G (p.Ser3057Ala)
c.9091T>G (p.Ser3031Ala)
c.9076T>G (p.Ser3026Ala)
c.2290T>G (p.Ser764Ala)
c.2269T>G (p.Ser757Ala)
n.9167T>G
5g.90712396C>ACA360396357ADGRV1c.9152C>A (p.Ser3051Tyr)
c.265+36187C>A (n.265+36187C>A)
n.4611C>A
c.2959C>A
n.2296C>A
c.3881C>A
c.1849C>A
n.9165C>A
c.9149C>A (p.Ser3050Tyr)
c.9071C>A (p.Ser3024Tyr)
c.6455C>A (p.Ser2152Tyr)
n.450G>T
c.9173C>A (p.Ser3058Tyr)
c.9170C>A (p.Ser3057Tyr)
c.9092C>A (p.Ser3031Tyr)
c.9077C>A (p.Ser3026Tyr)
c.2291C>A (p.Ser764Tyr)
c.2270C>A (p.Ser757Tyr)
n.9168C>A
 gnomAD v4
5g.90712396C=CA1562867557ADGRV1c.9152C= (p.Ser3051=)
c.265+36187C= (n.265+36187C=)
n.4611C=
c.2959C=
n.2296C=
c.3881C=
c.1849C=
n.9165C=
c.9149C= (p.Ser3050=)
c.9071C= (p.Ser3024=)
c.6455C= (p.Ser2152=)
n.450G=
c.9173C= (p.Ser3058=)
c.9170C= (p.Ser3057=)
c.9092C= (p.Ser3031=)
c.9077C= (p.Ser3026=)
c.2291C= (p.Ser764=)
c.2270C= (p.Ser757=)
n.9168C=
5g.90712396C>GCA360396359ADGRV1c.9152C>G (p.Ser3051Cys)
c.265+36187C>G (n.265+36187C>G)
n.4611C>G
c.2959C>G
n.2296C>G
c.3881C>G
c.1849C>G
n.9165C>G
c.9149C>G (p.Ser3050Cys)
c.9071C>G (p.Ser3024Cys)
c.6455C>G (p.Ser2152Cys)
n.450G>C
c.9173C>G (p.Ser3058Cys)
c.9170C>G (p.Ser3057Cys)
c.9092C>G (p.Ser3031Cys)
c.9077C>G (p.Ser3026Cys)
c.2291C>G (p.Ser764Cys)
c.2270C>G (p.Ser757Cys)
n.9168C>G
5g.90712396C>TCA360396358ADGRV1c.9152C>T (p.Ser3051Phe)
c.265+36187C>T (n.265+36187C>T)
n.4611C>T
c.2959C>T
n.2296C>T
c.3881C>T
c.1849C>T
n.9165C>T
c.9149C>T (p.Ser3050Phe)
c.9071C>T (p.Ser3024Phe)
c.6455C>T (p.Ser2152Phe)
n.450G>A
c.9173C>T (p.Ser3058Phe)
c.9170C>T (p.Ser3057Phe)
c.9092C>T (p.Ser3031Phe)
c.9077C>T (p.Ser3026Phe)
c.2291C>T (p.Ser764Phe)
c.2270C>T (p.Ser757Phe)
n.9168C>T
 dbSNP
5g.90712397T>ACA445412052ADGRV1c.9153T>A (p.Ser3051=)
c.265+36188T>A (n.265+36188T>A)
n.4612T>A
c.2960T>A
n.2297T>A
c.3882T>A
c.1850T>A
n.9166T>A
c.9150T>A (p.Ser3050=)
c.9072T>A (p.Ser3024=)
c.6456T>A (p.Ser2152=)
n.449A>T
c.9174T>A (p.Ser3058=)
c.9171T>A (p.Ser3057=)
c.9093T>A (p.Ser3031=)
c.9078T>A (p.Ser3026=)
c.2292T>A (p.Ser764=)
c.2271T>A (p.Ser757=)
n.9169T>A
5g.90712397T>CCA445412054ADGRV1c.9153T>C (p.Ser3051=)
c.265+36188T>C (n.265+36188T>C)
n.4612T>C
c.2960T>C
n.2297T>C
c.3882T>C
c.1850T>C
n.9166T>C
c.9150T>C (p.Ser3050=)
c.9072T>C (p.Ser3024=)
c.6456T>C (p.Ser2152=)
n.449A>G
c.9174T>C (p.Ser3058=)
c.9171T>C (p.Ser3057=)
c.9093T>C (p.Ser3031=)
c.9078T>C (p.Ser3026=)
c.2292T>C (p.Ser764=)
c.2271T>C (p.Ser757=)
n.9169T>C
5g.90712397T>GCA445412056ADGRV1c.9153T>G (p.Ser3051=)
c.265+36188T>G (n.265+36188T>G)
n.4612T>G
c.2960T>G
n.2297T>G
c.3882T>G
c.1850T>G
n.9166T>G
c.9150T>G (p.Ser3050=)
c.9072T>G (p.Ser3024=)
c.6456T>G (p.Ser2152=)
n.449A>C
c.9174T>G (p.Ser3058=)
c.9171T>G (p.Ser3057=)
c.9093T>G (p.Ser3031=)
c.9078T>G (p.Ser3026=)
c.2292T>G (p.Ser764=)
c.2271T>G (p.Ser757=)
n.9169T>G
5g.90712398C>ACA360396360ADGRV1c.9154C>A (p.Pro3052Thr)
c.265+36189C>A (n.265+36189C>A)
n.4613C>A
c.2961C>A
n.2298C>A
c.3883C>A
c.1851C>A
n.9167C>A
c.9151C>A (p.Pro3051Thr)
c.9073C>A (p.Pro3025Thr)
c.6457C>A (p.Pro2153Thr)
n.448G>T
c.9175C>A (p.Pro3059Thr)
c.9172C>A (p.Pro3058Thr)
c.9094C>A (p.Pro3032Thr)
c.9079C>A (p.Pro3027Thr)
c.2293C>A (p.Pro765Thr)
c.2272C>A (p.Pro758Thr)
n.9170C>A
 gnomAD v4
5g.90712398C>GCA360396361ADGRV1c.9154C>G (p.Pro3052Ala)
c.265+36189C>G (n.265+36189C>G)
n.4613C>G
c.2961C>G
n.2298C>G
c.3883C>G
c.1851C>G
n.9167C>G
c.9151C>G (p.Pro3051Ala)
c.9073C>G (p.Pro3025Ala)
c.6457C>G (p.Pro2153Ala)
n.448G>C
c.9175C>G (p.Pro3059Ala)
c.9172C>G (p.Pro3058Ala)
c.9094C>G (p.Pro3032Ala)
c.9079C>G (p.Pro3027Ala)
c.2293C>G (p.Pro765Ala)
c.2272C>G (p.Pro758Ala)
n.9170C>G
5g.90712398C>TCA360396362ADGRV1c.9154C>T (p.Pro3052Ser)
c.265+36189C>T (n.265+36189C>T)
n.4613C>T
c.2961C>T
n.2298C>T
c.3883C>T
c.1851C>T
n.9167C>T
c.9151C>T (p.Pro3051Ser)
c.9073C>T (p.Pro3025Ser)
c.6457C>T (p.Pro2153Ser)
n.448G>A
c.9175C>T (p.Pro3059Ser)
c.9172C>T (p.Pro3058Ser)
c.9094C>T (p.Pro3032Ser)
c.9079C>T (p.Pro3027Ser)
c.2293C>T (p.Pro765Ser)
c.2272C>T (p.Pro758Ser)
n.9170C>T
 gnomAD v4
5g.90712399C>ACA360396363ADGRV1c.9155C>A (p.Pro3052His)
c.265+36190C>A (n.265+36190C>A)
n.4614C>A
c.2962C>A
n.2299C>A
c.3884C>A
c.1852C>A
n.9168C>A
c.9152C>A (p.Pro3051His)
c.9074C>A (p.Pro3025His)
c.6458C>A (p.Pro2153His)
n.447G>T
c.9176C>A (p.Pro3059His)
c.9173C>A (p.Pro3058His)
c.9095C>A (p.Pro3032His)
c.9080C>A (p.Pro3027His)
c.2294C>A (p.Pro765His)
c.2273C>A (p.Pro758His)
n.9171C>A
 gnomAD v4
5g.90712399C=CA1562867558ADGRV1c.9155C= (p.Pro3052=)
c.265+36190C= (n.265+36190C=)
n.4614C=
c.2962C=
n.2299C=
c.3884C=
c.1852C=
n.9168C=
c.9152C= (p.Pro3051=)
c.9074C= (p.Pro3025=)
c.6458C= (p.Pro2153=)
n.447G=
c.9176C= (p.Pro3059=)
c.9173C= (p.Pro3058=)
c.9095C= (p.Pro3032=)
c.9080C= (p.Pro3027=)
c.2294C= (p.Pro765=)
c.2273C= (p.Pro758=)
n.9171C=
5g.90712399C>GCA360396364ADGRV1c.9155C>G (p.Pro3052Arg)
c.265+36190C>G (n.265+36190C>G)
n.4614C>G
c.2962C>G
n.2299C>G
c.3884C>G
c.1852C>G
n.9168C>G
c.9152C>G (p.Pro3051Arg)
c.9074C>G (p.Pro3025Arg)
c.6458C>G (p.Pro2153Arg)
n.447G>C
c.9176C>G (p.Pro3059Arg)
c.9173C>G (p.Pro3058Arg)
c.9095C>G (p.Pro3032Arg)
c.9080C>G (p.Pro3027Arg)
c.2294C>G (p.Pro765Arg)
c.2273C>G (p.Pro758Arg)
n.9171C>G
5g.90712399C>TCA122804771ADGRV1c.9155C>T (p.Pro3052Leu)
c.265+36190C>T (n.265+36190C>T)
n.4614C>T
c.2962C>T
n.2299C>T
c.3884C>T
c.1852C>T
n.9168C>T
c.9152C>T (p.Pro3051Leu)
c.9074C>T (p.Pro3025Leu)
c.6458C>T (p.Pro2153Leu)
n.447G>A
c.9176C>T (p.Pro3059Leu)
c.9173C>T (p.Pro3058Leu)
c.9095C>T (p.Pro3032Leu)
c.9080C>T (p.Pro3027Leu)
c.2294C>T (p.Pro765Leu)
c.2273C>T (p.Pro758Leu)
n.9171C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90712400delCA2573139991ADGRV1c.9156del (p.Gly3053AspfsTer2)
c.265+36191del (n.265+36191del)
n.4615del
c.2963del
n.2300del
c.3885del
c.1853del
n.9169del
c.9153del (p.Gly3052AspfsTer2)
c.9075del (p.Gly3026AspfsTer2)
c.6459del (p.Gly2154AspfsTer2)
n.446del
c.9177del (p.Gly3060AspfsTer2)
c.9174del (p.Gly3059AspfsTer2)
c.9096del (p.Gly3033AspfsTer2)
c.9081del (p.Gly3028AspfsTer2)
c.2295del (p.Gly766AspfsTer2)
c.2274del (p.Gly759AspfsTer2)
n.9172del
 ClinVar dbSNP gnomAD v4
5g.90712400T>ACA445412066ADGRV1c.9156T>A (p.Pro3052=)
c.265+36191T>A (n.265+36191T>A)
n.4615T>A
c.2963T>A
n.2300T>A
c.3885T>A
c.1853T>A
n.9169T>A
c.9153T>A (p.Pro3051=)
c.9075T>A (p.Pro3025=)
c.6459T>A (p.Pro2153=)
n.446A>T
c.9177T>A (p.Pro3059=)
c.9174T>A (p.Pro3058=)
c.9096T>A (p.Pro3032=)
c.9081T>A (p.Pro3027=)
c.2295T>A (p.Pro765=)
c.2274T>A (p.Pro758=)
n.9172T>A
 gnomAD v4
5g.90712400T>CCA445412067ADGRV1c.9156T>C (p.Pro3052=)
c.265+36191T>C (n.265+36191T>C)
n.4615T>C
c.2963T>C
n.2300T>C
c.3885T>C
c.1853T>C
n.9169T>C
c.9153T>C (p.Pro3051=)
c.9075T>C (p.Pro3025=)
c.6459T>C (p.Pro2153=)
n.446A>G
c.9177T>C (p.Pro3059=)
c.9174T>C (p.Pro3058=)
c.9096T>C (p.Pro3032=)
c.9081T>C (p.Pro3027=)
c.2295T>C (p.Pro765=)
c.2274T>C (p.Pro758=)
n.9172T>C
 gnomAD v4
5g.90712400T>GCA445412068ADGRV1c.9156T>G (p.Pro3052=)
c.265+36191T>G (n.265+36191T>G)
n.4615T>G
c.2963T>G
n.2300T>G
c.3885T>G
c.1853T>G
n.9169T>G
c.9153T>G (p.Pro3051=)
c.9075T>G (p.Pro3025=)
c.6459T>G (p.Pro2153=)
n.446A>C
c.9177T>G (p.Pro3059=)
c.9174T>G (p.Pro3058=)
c.9096T>G (p.Pro3032=)
c.9081T>G (p.Pro3027=)
c.2295T>G (p.Pro765=)
c.2274T>G (p.Pro758=)
n.9172T>G
5g.90712401G>ACA360396365ADGRV1c.9157G>A (p.Gly3053Arg)
c.265+36192G>A (n.265+36192G>A)
n.4616G>A
c.2964G>A
n.2301G>A
c.3886G>A
c.1854G>A
n.9170G>A
c.9154G>A (p.Gly3052Arg)
c.9076G>A (p.Gly3026Arg)
c.6460G>A (p.Gly2154Arg)
n.445C>T
c.9178G>A (p.Gly3060Arg)
c.9175G>A (p.Gly3059Arg)
c.9097G>A (p.Gly3033Arg)
c.9082G>A (p.Gly3028Arg)
c.2296G>A (p.Gly766Arg)
c.2275G>A (p.Gly759Arg)
n.9173G>A
 dbSNP gnomAD v2 gnomAD v4
5g.90712401G>CCA360396366ADGRV1c.9157G>C (p.Gly3053Arg)
c.265+36192G>C (n.265+36192G>C)
n.4616G>C
c.2964G>C
n.2301G>C
c.3886G>C
c.1854G>C
n.9170G>C
c.9154G>C (p.Gly3052Arg)
c.9076G>C (p.Gly3026Arg)
c.6460G>C (p.Gly2154Arg)
n.445C>G
c.9178G>C (p.Gly3060Arg)
c.9175G>C (p.Gly3059Arg)
c.9097G>C (p.Gly3033Arg)
c.9082G>C (p.Gly3028Arg)
c.2296G>C (p.Gly766Arg)
c.2275G>C (p.Gly759Arg)
n.9173G>C
5g.90712401G=CA1562867559ADGRV1c.9157G= (p.Gly3053=)
c.265+36192G= (n.265+36192G=)
n.4616G=
c.2964G=
n.2301G=
c.3886G=
c.1854G=
n.9170G=
c.9154G= (p.Gly3052=)
c.9076G= (p.Gly3026=)
c.6460G= (p.Gly2154=)
n.445C=
c.9178G= (p.Gly3060=)
c.9175G= (p.Gly3059=)
c.9097G= (p.Gly3033=)
c.9082G= (p.Gly3028=)
c.2296G= (p.Gly766=)
c.2275G= (p.Gly759=)
n.9173G=
5g.90712401G>TCA360396367ADGRV1c.9157G>T (p.Gly3053Ter)
c.265+36192G>T (n.265+36192G>T)
n.4616G>T
c.2964G>T
n.2301G>T
c.3886G>T
c.1854G>T
n.9170G>T
c.9154G>T (p.Gly3052Ter)
c.9076G>T (p.Gly3026Ter)
c.6460G>T (p.Gly2154Ter)
n.445C>A
c.9178G>T (p.Gly3060Ter)
c.9175G>T (p.Gly3059Ter)
c.9097G>T (p.Gly3033Ter)
c.9082G>T (p.Gly3028Ter)
c.2296G>T (p.Gly766Ter)
c.2275G>T (p.Gly759Ter)
n.9173G>T
5g.90712402G>ACA360396368ADGRV1c.9158G>A (p.Gly3053Glu)
c.265+36193G>A (n.265+36193G>A)
n.4617G>A
c.2965G>A
n.2302G>A
c.3887G>A
c.1855G>A
n.9171G>A
c.9155G>A (p.Gly3052Glu)
c.9077G>A (p.Gly3026Glu)
c.6461G>A (p.Gly2154Glu)
n.444C>T
c.9179G>A (p.Gly3060Glu)
c.9176G>A (p.Gly3059Glu)
c.9098G>A (p.Gly3033Glu)
c.9083G>A (p.Gly3028Glu)
c.2297G>A (p.Gly766Glu)
c.2276G>A (p.Gly759Glu)
n.9174G>A
 gnomAD v4
5g.90712402G>CCA360396369ADGRV1c.9158G>C (p.Gly3053Ala)
c.265+36193G>C (n.265+36193G>C)
n.4617G>C
c.2965G>C
n.2302G>C
c.3887G>C
c.1855G>C
n.9171G>C
c.9155G>C (p.Gly3052Ala)
c.9077G>C (p.Gly3026Ala)
c.6461G>C (p.Gly2154Ala)
n.444C>G
c.9179G>C (p.Gly3060Ala)
c.9176G>C (p.Gly3059Ala)
c.9098G>C (p.Gly3033Ala)
c.9083G>C (p.Gly3028Ala)
c.2297G>C (p.Gly766Ala)
c.2276G>C (p.Gly759Ala)
n.9174G>C
5g.90712402G>TCA360396370ADGRV1c.9158G>T (p.Gly3053Val)
c.265+36193G>T (n.265+36193G>T)
n.4617G>T
c.2965G>T
n.2302G>T
c.3887G>T
c.1855G>T
n.9171G>T
c.9155G>T (p.Gly3052Val)
c.9077G>T (p.Gly3026Val)
c.6461G>T (p.Gly2154Val)
n.444C>A
c.9179G>T (p.Gly3060Val)
c.9176G>T (p.Gly3059Val)
c.9098G>T (p.Gly3033Val)
c.9083G>T (p.Gly3028Val)
c.2297G>T (p.Gly766Val)
c.2276G>T (p.Gly759Val)
n.9174G>T
 gnomAD v4
5g.90712403A>CCA445412085ADGRV1c.9159A>C (p.Gly3053=)
c.265+36194A>C (n.265+36194A>C)
n.4618A>C
c.2966A>C
n.2303A>C
c.3888A>C
c.1856A>C
n.9172A>C
c.9156A>C (p.Gly3052=)
c.9078A>C (p.Gly3026=)
c.6462A>C (p.Gly2154=)
n.443T>G
c.9180A>C (p.Gly3060=)
c.9177A>C (p.Gly3059=)
c.9099A>C (p.Gly3033=)
c.9084A>C (p.Gly3028=)
c.2298A>C (p.Gly766=)
c.2277A>C (p.Gly759=)
n.9175A>C
5g.90712403A>GCA445412081ADGRV1c.9159A>G (p.Gly3053=)
c.265+36194A>G (n.265+36194A>G)
n.4618A>G
c.2966A>G
n.2303A>G
c.3888A>G
c.1856A>G
n.9172A>G
c.9156A>G (p.Gly3052=)
c.9078A>G (p.Gly3026=)
c.6462A>G (p.Gly2154=)
n.443T>C
c.9180A>G (p.Gly3060=)
c.9177A>G (p.Gly3059=)
c.9099A>G (p.Gly3033=)
c.9084A>G (p.Gly3028=)
c.2298A>G (p.Gly766=)
c.2277A>G (p.Gly759=)
n.9175A>G
5g.90712403A>TCA445412083ADGRV1c.9159A>T (p.Gly3053=)
c.265+36194A>T (n.265+36194A>T)
n.4618A>T
c.2966A>T
n.2303A>T
c.3888A>T
c.1856A>T
n.9172A>T
c.9156A>T (p.Gly3052=)
c.9078A>T (p.Gly3026=)
c.6462A>T (p.Gly2154=)
n.443T>A
c.9180A>T (p.Gly3060=)
c.9177A>T (p.Gly3059=)
c.9099A>T (p.Gly3033=)
c.9084A>T (p.Gly3028=)
c.2298A>T (p.Gly766=)
c.2277A>T (p.Gly759=)
n.9175A>T
5g.90712404C>ACA360396371ADGRV1c.9160C>A (p.Leu3054Ile)
c.265+36195C>A (n.265+36195C>A)
n.4619C>A
c.2967C>A
n.2304C>A
c.3889C>A
c.1857C>A
n.9173C>A
c.9157C>A (p.Leu3053Ile)
c.9079C>A (p.Leu3027Ile)
c.6463C>A (p.Leu2155Ile)
n.442G>T
c.9181C>A (p.Leu3061Ile)
c.9178C>A (p.Leu3060Ile)
c.9100C>A (p.Leu3034Ile)
c.9085C>A (p.Leu3029Ile)
c.2299C>A (p.Leu767Ile)
c.2278C>A (p.Leu760Ile)
n.9176C>A
 ClinVar gnomAD v4
5g.90712404C>GCA360396372ADGRV1c.9160C>G (p.Leu3054Val)
c.265+36195C>G (n.265+36195C>G)
n.4619C>G
c.2967C>G
n.2304C>G
c.3889C>G
c.1857C>G
n.9173C>G
c.9157C>G (p.Leu3053Val)
c.9079C>G (p.Leu3027Val)
c.6463C>G (p.Leu2155Val)
n.442G>C
c.9181C>G (p.Leu3061Val)
c.9178C>G (p.Leu3060Val)
c.9100C>G (p.Leu3034Val)
c.9085C>G (p.Leu3029Val)
c.2299C>G (p.Leu767Val)
c.2278C>G (p.Leu760Val)
n.9176C>G
 gnomAD v4
5g.90712404C>TCA445412088ADGRV1c.9160C>T (p.Leu3054=)
c.265+36195C>T (n.265+36195C>T)
n.4619C>T
c.2967C>T
n.2304C>T
c.3889C>T
c.1857C>T
n.9173C>T
c.9157C>T (p.Leu3053=)
c.9079C>T (p.Leu3027=)
c.6463C>T (p.Leu2155=)
n.442G>A
c.9181C>T (p.Leu3061=)
c.9178C>T (p.Leu3060=)
c.9100C>T (p.Leu3034=)
c.9085C>T (p.Leu3029=)
c.2299C>T (p.Leu767=)
c.2278C>T (p.Leu760=)
n.9176C>T
 gnomAD v4
5g.90712405T>ACA360396373ADGRV1c.9161T>A (p.Leu3054Gln)
c.265+36196T>A (n.265+36196T>A)
n.4620T>A
c.2968T>A
n.2305T>A
c.3890T>A
c.1858T>A
n.9174T>A
c.9158T>A (p.Leu3053Gln)
c.9080T>A (p.Leu3027Gln)
c.6464T>A (p.Leu2155Gln)
n.441A>T
c.9182T>A (p.Leu3061Gln)
c.9179T>A (p.Leu3060Gln)
c.9101T>A (p.Leu3034Gln)
c.9086T>A (p.Leu3029Gln)
c.2300T>A (p.Leu767Gln)
c.2279T>A (p.Leu760Gln)
n.9177T>A
 gnomAD v4
5g.90712405T>CCA360396375ADGRV1c.9161T>C (p.Leu3054Pro)
c.265+36196T>C (n.265+36196T>C)
n.4620T>C
c.2968T>C
n.2305T>C
c.3890T>C
c.1858T>C
n.9174T>C
c.9158T>C (p.Leu3053Pro)
c.9080T>C (p.Leu3027Pro)
c.6464T>C (p.Leu2155Pro)
n.441A>G
c.9182T>C (p.Leu3061Pro)
c.9179T>C (p.Leu3060Pro)
c.9101T>C (p.Leu3034Pro)
c.9086T>C (p.Leu3029Pro)
c.2300T>C (p.Leu767Pro)
c.2279T>C (p.Leu760Pro)
n.9177T>C
 dbSNP gnomAD v2 gnomAD v4
5g.90712405T>GCA360396374ADGRV1c.9161T>G (p.Leu3054Arg)
c.265+36196T>G (n.265+36196T>G)
n.4620T>G
c.2968T>G
n.2305T>G
c.3890T>G
c.1858T>G
n.9174T>G
c.9158T>G (p.Leu3053Arg)
c.9080T>G (p.Leu3027Arg)
c.6464T>G (p.Leu2155Arg)
n.441A>C
c.9182T>G (p.Leu3061Arg)
c.9179T>G (p.Leu3060Arg)
c.9101T>G (p.Leu3034Arg)
c.9086T>G (p.Leu3029Arg)
c.2300T>G (p.Leu767Arg)
c.2279T>G (p.Leu760Arg)
n.9177T>G
5g.90712405T=CA1562867560ADGRV1c.9161T= (p.Leu3054=)
c.265+36196T= (n.265+36196T=)
n.4620T=
c.2968T=
n.2305T=
c.3890T=
c.1858T=
n.9174T=
c.9158T= (p.Leu3053=)
c.9080T= (p.Leu3027=)
c.6464T= (p.Leu2155=)
n.441A=
c.9182T= (p.Leu3061=)
c.9179T= (p.Leu3060=)
c.9101T= (p.Leu3034=)
c.9086T= (p.Leu3029=)
c.2300T= (p.Leu767=)
c.2279T= (p.Leu760=)
n.9177T=
5g.90712406A=CA1562867561ADGRV1c.9162A= (p.Leu3054=)
c.265+36197A= (n.265+36197A=)
n.4621A=
c.2969A=
n.2306A=
c.3891A=
c.1859A=
n.9175A=
c.9159A= (p.Leu3053=)
c.9081A= (p.Leu3027=)
c.6465A= (p.Leu2155=)
n.440T=
c.9183A= (p.Leu3061=)
c.9180A= (p.Leu3060=)
c.9102A= (p.Leu3034=)
c.9087A= (p.Leu3029=)
c.2301A= (p.Leu767=)
c.2280A= (p.Leu760=)
n.9178A=
5g.90712406A>CCA445412092ADGRV1c.9162A>C (p.Leu3054=)
c.265+36197A>C (n.265+36197A>C)
n.4621A>C
c.2969A>C
n.2306A>C
c.3891A>C
c.1859A>C
n.9175A>C
c.9159A>C (p.Leu3053=)
c.9081A>C (p.Leu3027=)
c.6465A>C (p.Leu2155=)
n.440T>G
c.9183A>C (p.Leu3061=)
c.9180A>C (p.Leu3060=)
c.9102A>C (p.Leu3034=)
c.9087A>C (p.Leu3029=)
c.2301A>C (p.Leu767=)
c.2280A>C (p.Leu760=)
n.9178A>C
5g.90712406A>GCA3340451ADGRV1c.9162A>G (p.Leu3054=)
c.265+36197A>G (n.265+36197A>G)
n.4621A>G
c.2969A>G
n.2306A>G
c.3891A>G
c.1859A>G
n.9175A>G
c.9159A>G (p.Leu3053=)
c.9081A>G (p.Leu3027=)
c.6465A>G (p.Leu2155=)
n.440T>C
c.9183A>G (p.Leu3061=)
c.9180A>G (p.Leu3060=)
c.9102A>G (p.Leu3034=)
c.9087A>G (p.Leu3029=)
c.2301A>G (p.Leu767=)
c.2280A>G (p.Leu760=)
n.9178A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.90712406A>TCA445412095ADGRV1c.9162A>T (p.Leu3054=)
c.265+36197A>T (n.265+36197A>T)
n.4621A>T
c.2969A>T
n.2306A>T
c.3891A>T
c.1859A>T
n.9175A>T
c.9159A>T (p.Leu3053=)
c.9081A>T (p.Leu3027=)
c.6465A>T (p.Leu2155=)
n.440T>A
c.9183A>T (p.Leu3061=)
c.9180A>T (p.Leu3060=)
c.9102A>T (p.Leu3034=)
c.9087A>T (p.Leu3029=)
c.2301A>T (p.Leu767=)
c.2280A>T (p.Leu760=)
n.9178A>T
5g.90712407G>ACA360396378ADGRV1c.9163G>A (p.Glu3055Lys)
c.265+36198G>A (n.265+36198G>A)
n.4622G>A
c.2970G>A
n.2307G>A
c.3892G>A
c.1860G>A
n.9176G>A
c.9160G>A (p.Glu3054Lys)
c.9082G>A (p.Glu3028Lys)
c.6466G>A (p.Glu2156Lys)
n.439C>T
c.9184G>A (p.Glu3062Lys)
c.9181G>A (p.Glu3061Lys)
c.9103G>A (p.Glu3035Lys)
c.9088G>A (p.Glu3030Lys)
c.2302G>A (p.Glu768Lys)
c.2281G>A (p.Glu761Lys)
n.9179G>A
 gnomAD v4
5g.90712407G>CCA360396376ADGRV1c.9163G>C (p.Glu3055Gln)
c.265+36198G>C (n.265+36198G>C)
n.4622G>C
c.2970G>C
n.2307G>C
c.3892G>C
c.1860G>C
n.9176G>C
c.9160G>C (p.Glu3054Gln)
c.9082G>C (p.Glu3028Gln)
c.6466G>C (p.Glu2156Gln)
n.439C>G
c.9184G>C (p.Glu3062Gln)
c.9181G>C (p.Glu3061Gln)
c.9103G>C (p.Glu3035Gln)
c.9088G>C (p.Glu3030Gln)
c.2302G>C (p.Glu768Gln)
c.2281G>C (p.Glu761Gln)
n.9179G>C
 ClinVar gnomAD v4
5g.90712407G>TCA360396377ADGRV1c.9163G>T (p.Glu3055Ter)
c.265+36198G>T (n.265+36198G>T)
n.4622G>T
c.2970G>T
n.2307G>T
c.3892G>T
c.1860G>T
n.9176G>T
c.9160G>T (p.Glu3054Ter)
c.9082G>T (p.Glu3028Ter)
c.6466G>T (p.Glu2156Ter)
n.439C>A
c.9184G>T (p.Glu3062Ter)
c.9181G>T (p.Glu3061Ter)
c.9103G>T (p.Glu3035Ter)
c.9088G>T (p.Glu3030Ter)
c.2302G>T (p.Glu768Ter)
c.2281G>T (p.Glu761Ter)
n.9179G>T
 gnomAD v4
5g.90712408A>CCA360396379ADGRV1c.9164A>C (p.Glu3055Ala)
c.265+36199A>C (n.265+36199A>C)
n.4623A>C
c.2971A>C
n.2308A>C
c.3893A>C
c.1861A>C
n.9177A>C
c.9161A>C (p.Glu3054Ala)
c.9083A>C (p.Glu3028Ala)
c.6467A>C (p.Glu2156Ala)
n.438T>G
c.9185A>C (p.Glu3062Ala)
c.9182A>C (p.Glu3061Ala)
c.9104A>C (p.Glu3035Ala)
c.9089A>C (p.Glu3030Ala)
c.2303A>C (p.Glu768Ala)
c.2282A>C (p.Glu761Ala)
n.9180A>C
5g.90712408A>GCA360396380ADGRV1c.9164A>G (p.Glu3055Gly)
c.265+36199A>G (n.265+36199A>G)
n.4623A>G
c.2971A>G
n.2308A>G
c.3893A>G
c.1861A>G
n.9177A>G
c.9161A>G (p.Glu3054Gly)
c.9083A>G (p.Glu3028Gly)
c.6467A>G (p.Glu2156Gly)
n.438T>C
c.9185A>G (p.Glu3062Gly)
c.9182A>G (p.Glu3061Gly)
c.9104A>G (p.Glu3035Gly)
c.9089A>G (p.Glu3030Gly)
c.2303A>G (p.Glu768Gly)
c.2282A>G (p.Glu761Gly)
n.9180A>G
 gnomAD v4
5g.90712408A>TCA360396381ADGRV1c.9164A>T (p.Glu3055Val)
c.265+36199A>T (n.265+36199A>T)
n.4623A>T
c.2971A>T
n.2308A>T
c.3893A>T
c.1861A>T
n.9177A>T
c.9161A>T (p.Glu3054Val)
c.9083A>T (p.Glu3028Val)
c.6467A>T (p.Glu2156Val)
n.438T>A
c.9185A>T (p.Glu3062Val)
c.9182A>T (p.Glu3061Val)
c.9104A>T (p.Glu3035Val)
c.9089A>T (p.Glu3030Val)
c.2303A>T (p.Glu768Val)
c.2282A>T (p.Glu761Val)
n.9180A>T
5g.90712409G>ACA445412103ADGRV1c.9165G>A (p.Glu3055=)
c.265+36200G>A (n.265+36200G>A)
n.4624G>A
c.2972G>A
n.2309G>A
c.3894G>A
c.1862G>A
n.9178G>A
c.9162G>A (p.Glu3054=)
c.9084G>A (p.Glu3028=)
c.6468G>A (p.Glu2156=)
n.437C>T
c.9186G>A (p.Glu3062=)
c.9183G>A (p.Glu3061=)
c.9105G>A (p.Glu3035=)
c.9090G>A (p.Glu3030=)
c.2304G>A (p.Glu768=)
c.2283G>A (p.Glu761=)
n.9181G>A
 gnomAD v4
5g.90712409G>CCA360396382ADGRV1c.9165G>C (p.Glu3055Asp)
c.265+36200G>C (n.265+36200G>C)
n.4624G>C
c.2972G>C
n.2309G>C
c.3894G>C
c.1862G>C
n.9178G>C
c.9162G>C (p.Glu3054Asp)
c.9084G>C (p.Glu3028Asp)
c.6468G>C (p.Glu2156Asp)
n.437C>G
c.9186G>C (p.Glu3062Asp)
c.9183G>C (p.Glu3061Asp)
c.9105G>C (p.Glu3035Asp)
c.9090G>C (p.Glu3030Asp)
c.2304G>C (p.Glu768Asp)
c.2283G>C (p.Glu761Asp)
n.9181G>C
 dbSNP gnomAD v2
5g.90712409G=CA1562867562ADGRV1c.9165G= (p.Glu3055=)
c.265+36200G= (n.265+36200G=)
n.4624G=
c.2972G=
n.2309G=
c.3894G=
c.1862G=
n.9178G=
c.9162G= (p.Glu3054=)
c.9084G= (p.Glu3028=)
c.6468G= (p.Glu2156=)
n.437C=
c.9186G= (p.Glu3062=)
c.9183G= (p.Glu3061=)
c.9105G= (p.Glu3035=)
c.9090G= (p.Glu3030=)
c.2304G= (p.Glu768=)
c.2283G= (p.Glu761=)
n.9181G=
5g.90712409G>TCA360396383ADGRV1c.9165G>T (p.Glu3055Asp)
c.265+36200G>T (n.265+36200G>T)
n.4624G>T
c.2972G>T
n.2309G>T
c.3894G>T
c.1862G>T
n.9178G>T
c.9162G>T (p.Glu3054Asp)
c.9084G>T (p.Glu3028Asp)
c.6468G>T (p.Glu2156Asp)
n.437C>A
c.9186G>T (p.Glu3062Asp)
c.9183G>T (p.Glu3061Asp)
c.9105G>T (p.Glu3035Asp)
c.9090G>T (p.Glu3030Asp)
c.2304G>T (p.Glu768Asp)
c.2283G>T (p.Glu761Asp)
n.9181G>T
 gnomAD v4
5g.90712410C>ACA360396384ADGRV1c.9166C>A (p.Leu3056Ile)
c.265+36201C>A (n.265+36201C>A)
n.4625C>A
c.2973C>A
n.2310C>A
c.3895C>A
c.1863C>A
n.9179C>A
c.9163C>A (p.Leu3055Ile)
c.9085C>A (p.Leu3029Ile)
c.6469C>A (p.Leu2157Ile)
n.437-1G>T
c.9187C>A (p.Leu3063Ile)
c.9184C>A (p.Leu3062Ile)
c.9106C>A (p.Leu3036Ile)
c.9091C>A (p.Leu3031Ile)
c.2305C>A (p.Leu769Ile)
c.2284C>A (p.Leu762Ile)
n.9182C>A
 gnomAD v4
5g.90712410C>GCA360396385ADGRV1c.9166C>G (p.Leu3056Val)
c.265+36201C>G (n.265+36201C>G)
n.4625C>G
c.2973C>G
n.2310C>G
c.3895C>G
c.1863C>G
n.9179C>G
c.9163C>G (p.Leu3055Val)
c.9085C>G (p.Leu3029Val)
c.6469C>G (p.Leu2157Val)
n.437-1G>C
c.9187C>G (p.Leu3063Val)
c.9184C>G (p.Leu3062Val)
c.9106C>G (p.Leu3036Val)
c.9091C>G (p.Leu3031Val)
c.2305C>G (p.Leu769Val)
c.2284C>G (p.Leu762Val)
n.9182C>G
5g.90712410C>TCA445412107ADGRV1c.9166C>T (p.Leu3056=)
c.265+36201C>T (n.265+36201C>T)
n.4625C>T
c.2973C>T
n.2310C>T
c.3895C>T
c.1863C>T
n.9179C>T
c.9163C>T (p.Leu3055=)
c.9085C>T (p.Leu3029=)
c.6469C>T (p.Leu2157=)
n.437-1G>A
c.9187C>T (p.Leu3063=)
c.9184C>T (p.Leu3062=)
c.9106C>T (p.Leu3036=)
c.9091C>T (p.Leu3031=)
c.2305C>T (p.Leu769=)
c.2284C>T (p.Leu762=)
n.9182C>T
 gnomAD v4
5g.90712411T>ACA360396386ADGRV1c.9167T>A (p.Leu3056Gln)
c.265+36202T>A (n.265+36202T>A)
n.4626T>A
c.2974T>A
n.2311T>A
c.3896T>A
c.1864T>A
n.9180T>A
c.9164T>A (p.Leu3055Gln)
c.9086T>A (p.Leu3029Gln)
c.6470T>A (p.Leu2157Gln)
n.437-2A>T
c.9188T>A (p.Leu3063Gln)
c.9185T>A (p.Leu3062Gln)
c.9107T>A (p.Leu3036Gln)
c.9092T>A (p.Leu3031Gln)
c.2306T>A (p.Leu769Gln)
c.2285T>A (p.Leu762Gln)
n.9183T>A
5g.90712411T>CCA360396387ADGRV1c.9167T>C (p.Leu3056Pro)
c.265+36202T>C (n.265+36202T>C)
n.4626T>C
c.2974T>C
n.2311T>C
c.3896T>C
c.1864T>C
n.9180T>C
c.9164T>C (p.Leu3055Pro)
c.9086T>C (p.Leu3029Pro)
c.6470T>C (p.Leu2157Pro)
n.437-2A>G
c.9188T>C (p.Leu3063Pro)
c.9185T>C (p.Leu3062Pro)
c.9107T>C (p.Leu3036Pro)
c.9092T>C (p.Leu3031Pro)
c.2306T>C (p.Leu769Pro)
c.2285T>C (p.Leu762Pro)
n.9183T>C
 gnomAD v4
5g.90712411T>GCA360396388ADGRV1c.9167T>G (p.Leu3056Arg)
c.265+36202T>G (n.265+36202T>G)
n.4626T>G
c.2974T>G
n.2311T>G
c.3896T>G
c.1864T>G
n.9180T>G
c.9164T>G (p.Leu3055Arg)
c.9086T>G (p.Leu3029Arg)
c.6470T>G (p.Leu2157Arg)
n.437-2A>C
c.9188T>G (p.Leu3063Arg)
c.9185T>G (p.Leu3062Arg)
c.9107T>G (p.Leu3036Arg)
c.9092T>G (p.Leu3031Arg)
c.2306T>G (p.Leu769Arg)
c.2285T>G (p.Leu762Arg)
n.9183T>G
5g.90712412A>CCA445412112ADGRV1c.9168A>C (p.Leu3056=)
c.265+36203A>C (n.265+36203A>C)
n.4627A>C
c.2975A>C
n.2312A>C
c.3897A>C
c.1865A>C
n.9181A>C
c.9165A>C (p.Leu3055=)
c.9087A>C (p.Leu3029=)
c.6471A>C (p.Leu2157=)
n.437-3T>G
c.9189A>C (p.Leu3063=)
c.9186A>C (p.Leu3062=)
c.9108A>C (p.Leu3036=)
c.9093A>C (p.Leu3031=)
c.2307A>C (p.Leu769=)
c.2286A>C (p.Leu762=)
n.9184A>C
5g.90712412A>GCA445412113ADGRV1c.9168A>G (p.Leu3056=)
c.265+36203A>G (n.265+36203A>G)
n.4627A>G
c.2975A>G
n.2312A>G
c.3897A>G
c.1865A>G
n.9181A>G
c.9165A>G (p.Leu3055=)
c.9087A>G (p.Leu3029=)
c.6471A>G (p.Leu2157=)
n.437-3T>C
c.9189A>G (p.Leu3063=)
c.9186A>G (p.Leu3062=)
c.9108A>G (p.Leu3036=)
c.9093A>G (p.Leu3031=)
c.2307A>G (p.Leu769=)
c.2286A>G (p.Leu762=)
n.9184A>G
 gnomAD v4
5g.90712412A>TCA445412116ADGRV1c.9168A>T (p.Leu3056=)
c.265+36203A>T (n.265+36203A>T)
n.4627A>T
c.2975A>T
n.2312A>T
c.3897A>T
c.1865A>T
n.9181A>T
c.9165A>T (p.Leu3055=)
c.9087A>T (p.Leu3029=)
c.6471A>T (p.Leu2157=)
n.437-3T>A
c.9189A>T (p.Leu3063=)
c.9186A>T (p.Leu3062=)
c.9108A>T (p.Leu3036=)
c.9093A>T (p.Leu3031=)
c.2307A>T (p.Leu769=)
c.2286A>T (p.Leu762=)
n.9184A>T
 gnomAD v4
5g.90712413G>ACA360396389ADGRV1c.9169G>A (p.Gly3057Arg)
c.265+36204G>A (n.265+36204G>A)
n.4628G>A
c.2976G>A
n.2313G>A
c.3898G>A
c.1866G>A
n.9182G>A
c.9166G>A (p.Gly3056Arg)
c.9088G>A (p.Gly3030Arg)
c.6472G>A (p.Gly2158Arg)
n.437-4C>T
c.9190G>A (p.Gly3064Arg)
c.9187G>A (p.Gly3063Arg)
c.9109G>A (p.Gly3037Arg)
c.9094G>A (p.Gly3032Arg)
c.2308G>A (p.Gly770Arg)
c.2287G>A (p.Gly763Arg)
n.9185G>A
 gnomAD v4
5g.90712413G>CCA122804774ADGRV1c.9169G>C (p.Gly3057Arg)
c.265+36204G>C (n.265+36204G>C)
n.4628G>C
c.2976G>C
n.2313G>C
c.3898G>C
c.1866G>C
n.9182G>C
c.9166G>C (p.Gly3056Arg)
c.9088G>C (p.Gly3030Arg)
c.6472G>C (p.Gly2158Arg)
n.437-4C>G
c.9190G>C (p.Gly3064Arg)
c.9187G>C (p.Gly3063Arg)
c.9109G>C (p.Gly3037Arg)
c.9094G>C (p.Gly3032Arg)
c.2308G>C (p.Gly770Arg)
c.2287G>C (p.Gly763Arg)
n.9185G>C
 dbSNP
5g.90712413G=CA1562867563ADGRV1c.9169G= (p.Gly3057=)
c.265+36204G= (n.265+36204G=)
n.4628G=
c.2976G=
n.2313G=
c.3898G=
c.1866G=
n.9182G=
c.9166G= (p.Gly3056=)
c.9088G= (p.Gly3030=)
c.6472G= (p.Gly2158=)
n.437-4C=
c.9190G= (p.Gly3064=)
c.9187G= (p.Gly3063=)
c.9109G= (p.Gly3037=)
c.9094G= (p.Gly3032=)
c.2308G= (p.Gly770=)
c.2287G= (p.Gly763=)
n.9185G=
5g.90712413G>TCA360396390ADGRV1c.9169G>T (p.Gly3057Trp)
c.265+36204G>T (n.265+36204G>T)
n.4628G>T
c.2976G>T
n.2313G>T
c.3898G>T
c.1866G>T
n.9182G>T
c.9166G>T (p.Gly3056Trp)
c.9088G>T (p.Gly3030Trp)
c.6472G>T (p.Gly2158Trp)
n.437-4C>A
c.9190G>T (p.Gly3064Trp)
c.9187G>T (p.Gly3063Trp)
c.9109G>T (p.Gly3037Trp)
c.9094G>T (p.Gly3032Trp)
c.2308G>T (p.Gly770Trp)
c.2287G>T (p.Gly763Trp)
n.9185G>T
 gnomAD v4
5g.90712415delCA2499217994ADGRV1c.9171del (p.Asn3059IlefsTer3)
c.265+36206del (n.265+36206del)
n.4630del
c.2978del
n.2315del
c.3900del
c.1868del
n.9184del
c.9168del (p.Asn3058IlefsTer3)
c.9090del (p.Asn3032IlefsTer3)
c.6474del (p.Asn2160IlefsTer3)
n.437-4del
c.9192del (p.Asn3066IlefsTer3)
c.9189del (p.Asn3065IlefsTer3)
c.9111del (p.Asn3039IlefsTer3)
c.9096del (p.Asn3034IlefsTer3)
c.2310del (p.Asn772IlefsTer3)
c.2289del (p.Asn765IlefsTer3)
n.9187del
 ClinVar dbSNP gnomAD v4
5g.90712414G>ACA360396391ADGRV1c.9170G>A (p.Gly3057Glu)
c.265+36205G>A (n.265+36205G>A)
n.4629G>A
c.2977G>A
n.2314G>A
c.3899G>A
c.1867G>A
n.9183G>A
c.9167G>A (p.Gly3056Glu)
c.9089G>A (p.Gly3030Glu)
c.6473G>A (p.Gly2158Glu)
n.437-5C>T
c.9191G>A (p.Gly3064Glu)
c.9188G>A (p.Gly3063Glu)
c.9110G>A (p.Gly3037Glu)
c.9095G>A (p.Gly3032Glu)
c.2309G>A (p.Gly770Glu)
c.2288G>A (p.Gly763Glu)
n.9186G>A
 gnomAD v4
5g.90712414G>CCA360396392ADGRV1c.9170G>C (p.Gly3057Ala)
c.265+36205G>C (n.265+36205G>C)
n.4629G>C
c.2977G>C
n.2314G>C
c.3899G>C
c.1867G>C
n.9183G>C
c.9167G>C (p.Gly3056Ala)
c.9089G>C (p.Gly3030Ala)
c.6473G>C (p.Gly2158Ala)
n.437-5C>G
c.9191G>C (p.Gly3064Ala)
c.9188G>C (p.Gly3063Ala)
c.9110G>C (p.Gly3037Ala)
c.9095G>C (p.Gly3032Ala)
c.2309G>C (p.Gly770Ala)
c.2288G>C (p.Gly763Ala)
n.9186G>C
5g.90712414G>TCA360396393ADGRV1c.9170G>T (p.Gly3057Val)
c.265+36205G>T (n.265+36205G>T)
n.4629G>T
c.2977G>T
n.2314G>T
c.3899G>T
c.1867G>T
n.9183G>T
c.9167G>T (p.Gly3056Val)
c.9089G>T (p.Gly3030Val)
c.6473G>T (p.Gly2158Val)
n.437-5C>A
c.9191G>T (p.Gly3064Val)
c.9188G>T (p.Gly3063Val)
c.9110G>T (p.Gly3037Val)
c.9095G>T (p.Gly3032Val)
c.2309G>T (p.Gly770Val)
c.2288G>T (p.Gly763Val)
n.9186G>T
5g.90712415G>ACA445412123ADGRV1c.9171G>A (p.Gly3057=)
c.265+36206G>A (n.265+36206G>A)
n.4630G>A
c.2978G>A
n.2315G>A
c.3900G>A
c.1868G>A
n.9184G>A
c.9168G>A (p.Gly3056=)
c.9090G>A (p.Gly3030=)
c.6474G>A (p.Gly2158=)
n.437-6C>T
c.9192G>A (p.Gly3064=)
c.9189G>A (p.Gly3063=)
c.9111G>A (p.Gly3037=)
c.9096G>A (p.Gly3032=)
c.2310G>A (p.Gly770=)
c.2289G>A (p.Gly763=)
n.9187G>A
 gnomAD v4 COSMIC
5g.90712415G>CCA445412124ADGRV1c.9171G>C (p.Gly3057=)
c.265+36206G>C (n.265+36206G>C)
n.4630G>C
c.2978G>C
n.2315G>C
c.3900G>C
c.1868G>C
n.9184G>C
c.9168G>C (p.Gly3056=)
c.9090G>C (p.Gly3030=)
c.6474G>C (p.Gly2158=)
n.437-6C>G
c.9192G>C (p.Gly3064=)
c.9189G>C (p.Gly3063=)
c.9111G>C (p.Gly3037=)
c.9096G>C (p.Gly3032=)
c.2310G>C (p.Gly770=)
c.2289G>C (p.Gly763=)
n.9187G>C
5g.90712415G=CA1562867564ADGRV1c.9171G= (p.Gly3057=)
c.265+36206G= (n.265+36206G=)
n.4630G=
c.2978G=
n.2315G=
c.3900G=
c.1868G=
n.9184G=
c.9168G= (p.Gly3056=)
c.9090G= (p.Gly3030=)
c.6474G= (p.Gly2158=)
n.437-6C=
c.9192G= (p.Gly3064=)
c.9189G= (p.Gly3063=)
c.9111G= (p.Gly3037=)
c.9096G= (p.Gly3032=)
c.2310G= (p.Gly770=)
c.2289G= (p.Gly763=)
n.9187G=
5g.90712415G>TCA445412126ADGRV1c.9171G>T (p.Gly3057=)
c.265+36206G>T (n.265+36206G>T)
n.4630G>T
c.2978G>T
n.2315G>T
c.3900G>T
c.1868G>T
n.9184G>T
c.9168G>T (p.Gly3056=)
c.9090G>T (p.Gly3030=)
c.6474G>T (p.Gly2158=)
n.437-6C>A
c.9192G>T (p.Gly3064=)
c.9189G>T (p.Gly3063=)
c.9111G>T (p.Gly3037=)
c.9096G>T (p.Gly3032=)
c.2310G>T (p.Gly770=)
c.2289G>T (p.Gly763=)
n.9187G>T
5g.90712416A>CCA360396394ADGRV1c.9172A>C (p.Lys3058Gln)
c.265+36207A>C (n.265+36207A>C)
n.4631A>C
c.2979A>C
n.2316A>C
c.3901A>C
c.1869A>C
n.9185A>C
c.9169A>C (p.Lys3057Gln)
c.9091A>C (p.Lys3031Gln)
c.6475A>C (p.Lys2159Gln)
n.437-7T>G
c.9193A>C (p.Lys3065Gln)
c.9190A>C (p.Lys3064Gln)
c.9112A>C (p.Lys3038Gln)
c.9097A>C (p.Lys3033Gln)
c.2311A>C (p.Lys771Gln)
c.2290A>C (p.Lys764Gln)
n.9188A>C
5g.90712416A>GCA360396395ADGRV1c.9172A>G (p.Lys3058Glu)
c.265+36207A>G (n.265+36207A>G)
n.4631A>G
c.2979A>G
n.2316A>G
c.3901A>G
c.1869A>G
n.9185A>G
c.9169A>G (p.Lys3057Glu)
c.9091A>G (p.Lys3031Glu)
c.6475A>G (p.Lys2159Glu)
n.437-7T>C
c.9193A>G (p.Lys3065Glu)
c.9190A>G (p.Lys3064Glu)
c.9112A>G (p.Lys3038Glu)
c.9097A>G (p.Lys3033Glu)
c.2311A>G (p.Lys771Glu)
c.2290A>G (p.Lys764Glu)
n.9188A>G
 gnomAD v4
5g.90712416A>TCA360396396ADGRV1c.9172A>T (p.Lys3058Ter)
c.265+36207A>T (n.265+36207A>T)
n.4631A>T
c.2979A>T
n.2316A>T
c.3901A>T
c.1869A>T
n.9185A>T
c.9169A>T (p.Lys3057Ter)
c.9091A>T (p.Lys3031Ter)
c.6475A>T (p.Lys2159Ter)
n.437-7T>A
c.9193A>T (p.Lys3065Ter)
c.9190A>T (p.Lys3064Ter)
c.9112A>T (p.Lys3038Ter)
c.9097A>T (p.Lys3033Ter)
c.2311A>T (p.Lys771Ter)
c.2290A>T (p.Lys764Ter)
n.9188A>T
5g.90712420dupCA3340452ADGRV1c.9176dup (p.Asn3059LysfsTer11)
c.265+36211dup (n.265+36211dup)
n.4635dup
c.2983dup
n.2320dup
c.3905dup
c.1873dup
n.9189dup
c.9173dup (p.Asn3058LysfsTer11)
c.9095dup (p.Asn3032LysfsTer11)
c.6479dup (p.Asn2160LysfsTer11)
n.437-7dup
c.9197dup (p.Asn3066LysfsTer11)
c.9194dup (p.Asn3065LysfsTer11)
c.9116dup (p.Asn3039LysfsTer11)
c.9101dup (p.Asn3034LysfsTer11)
c.2315dup (p.Asn772LysfsTer11)
c.2294dup (p.Asn765LysfsTer11)
n.9192dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90712420delCA645559075ADGRV1c.9176del (p.Asn3059IlefsTer3)
c.265+36211del (n.265+36211del)
n.4635del
c.2983del
n.2320del
c.3905del
c.1873del
n.9189del
c.9173del (p.Asn3058IlefsTer3)
c.9095del (p.Asn3032IlefsTer3)
c.6479del (p.Asn2160IlefsTer3)
n.437-7del
c.9197del (p.Asn3066IlefsTer3)
c.9194del (p.Asn3065IlefsTer3)
c.9116del (p.Asn3039IlefsTer3)
c.9101del (p.Asn3034IlefsTer3)
c.2315del (p.Asn772IlefsTer3)
c.2294del (p.Asn765IlefsTer3)
n.9192del
 gnomAD v4 COSMIC
5g.90712417A>CCA360396397ADGRV1c.9173A>C (p.Lys3058Thr)
c.265+36208A>C (n.265+36208A>C)
n.4632A>C
c.2980A>C
n.2317A>C
c.3902A>C
c.1870A>C
n.9186A>C
c.9170A>C (p.Lys3057Thr)
c.9092A>C (p.Lys3031Thr)
c.6476A>C (p.Lys2159Thr)
n.437-8T>G
c.9194A>C (p.Lys3065Thr)
c.9191A>C (p.Lys3064Thr)
c.9113A>C (p.Lys3038Thr)
c.9098A>C (p.Lys3033Thr)
c.2312A>C (p.Lys771Thr)
c.2291A>C (p.Lys764Thr)
n.9189A>C
5g.90712417A>GCA360396398ADGRV1c.9173A>G (p.Lys3058Arg)
c.265+36208A>G (n.265+36208A>G)
n.4632A>G
c.2980A>G
n.2317A>G
c.3902A>G
c.1870A>G
n.9186A>G
c.9170A>G (p.Lys3057Arg)
c.9092A>G (p.Lys3031Arg)
c.6476A>G (p.Lys2159Arg)
n.437-8T>C
c.9194A>G (p.Lys3065Arg)
c.9191A>G (p.Lys3064Arg)
c.9113A>G (p.Lys3038Arg)
c.9098A>G (p.Lys3033Arg)
c.2312A>G (p.Lys771Arg)
c.2291A>G (p.Lys764Arg)
n.9189A>G
 gnomAD v4
5g.90712417A>TCA360396399ADGRV1c.9173A>T (p.Lys3058Ile)
c.265+36208A>T (n.265+36208A>T)
n.4632A>T
c.2980A>T
n.2317A>T
c.3902A>T
c.1870A>T
n.9186A>T
c.9170A>T (p.Lys3057Ile)
c.9092A>T (p.Lys3031Ile)
c.6476A>T (p.Lys2159Ile)
n.437-8T>A
c.9194A>T (p.Lys3065Ile)
c.9191A>T (p.Lys3064Ile)
c.9113A>T (p.Lys3038Ile)
c.9098A>T (p.Lys3033Ile)
c.2312A>T (p.Lys771Ile)
c.2291A>T (p.Lys764Ile)
n.9189A>T
5g.90712418A>CCA360396401ADGRV1c.9174A>C (p.Lys3058Asn)
c.265+36209A>C (n.265+36209A>C)
n.4633A>C
c.2981A>C
n.2318A>C
c.3903A>C
c.1871A>C
n.9187A>C
c.9171A>C (p.Lys3057Asn)
c.9093A>C (p.Lys3031Asn)
c.6477A>C (p.Lys2159Asn)
n.437-9T>G
c.9195A>C (p.Lys3065Asn)
c.9192A>C (p.Lys3064Asn)
c.9114A>C (p.Lys3038Asn)
c.9099A>C (p.Lys3033Asn)
c.2313A>C (p.Lys771Asn)
c.2292A>C (p.Lys764Asn)
n.9190A>C
5g.90712418A>GCA445412134ADGRV1c.9174A>G (p.Lys3058=)
c.265+36209A>G (n.265+36209A>G)
n.4633A>G
c.2981A>G
n.2318A>G
c.3903A>G
c.1871A>G
n.9187A>G
c.9171A>G (p.Lys3057=)
c.9093A>G (p.Lys3031=)
c.6477A>G (p.Lys2159=)
n.437-9T>C
c.9195A>G (p.Lys3065=)
c.9192A>G (p.Lys3064=)
c.9114A>G (p.Lys3038=)
c.9099A>G (p.Lys3033=)
c.2313A>G (p.Lys771=)
c.2292A>G (p.Lys764=)
n.9190A>G
5g.90712418A>TCA360396400ADGRV1c.9174A>T (p.Lys3058Asn)
c.265+36209A>T (n.265+36209A>T)
n.4633A>T
c.2981A>T
n.2318A>T
c.3903A>T
c.1871A>T
n.9187A>T
c.9171A>T (p.Lys3057Asn)
c.9093A>T (p.Lys3031Asn)
c.6477A>T (p.Lys2159Asn)
n.437-9T>A
c.9195A>T (p.Lys3065Asn)
c.9192A>T (p.Lys3064Asn)
c.9114A>T (p.Lys3038Asn)
c.9099A>T (p.Lys3033Asn)
c.2313A>T (p.Lys771Asn)
c.2292A>T (p.Lys764Asn)
n.9190A>T
5g.90712419A>CCA360396402ADGRV1c.9175A>C (p.Asn3059His)
c.265+36210A>C (n.265+36210A>C)
n.4634A>C
c.2982A>C
n.2319A>C
c.3904A>C
c.1872A>C
n.9188A>C
c.9172A>C (p.Asn3058His)
c.9094A>C (p.Asn3032His)
c.6478A>C (p.Asn2160His)
n.437-10T>G
c.9196A>C (p.Asn3066His)
c.9193A>C (p.Asn3065His)
c.9115A>C (p.Asn3039His)
c.9100A>C (p.Asn3034His)
c.2314A>C (p.Asn772His)
c.2293A>C (p.Asn765His)
n.9191A>C
5g.90712419A>GCA360396403ADGRV1c.9175A>G (p.Asn3059Asp)
c.265+36210A>G (n.265+36210A>G)
n.4634A>G
c.2982A>G
n.2319A>G
c.3904A>G
c.1872A>G
n.9188A>G
c.9172A>G (p.Asn3058Asp)
c.9094A>G (p.Asn3032Asp)
c.6478A>G (p.Asn2160Asp)
n.437-10T>C
c.9196A>G (p.Asn3066Asp)
c.9193A>G (p.Asn3065Asp)
c.9115A>G (p.Asn3039Asp)
c.9100A>G (p.Asn3034Asp)
c.2314A>G (p.Asn772Asp)
c.2293A>G (p.Asn765Asp)
n.9191A>G
5g.90712419A>TCA360396404ADGRV1c.9175A>T (p.Asn3059Tyr)
c.265+36210A>T (n.265+36210A>T)
n.4634A>T
c.2982A>T
n.2319A>T
c.3904A>T
c.1872A>T
n.9188A>T
c.9172A>T (p.Asn3058Tyr)
c.9094A>T (p.Asn3032Tyr)
c.6478A>T (p.Asn2160Tyr)
n.437-10T>A
c.9196A>T (p.Asn3066Tyr)
c.9193A>T (p.Asn3065Tyr)
c.9115A>T (p.Asn3039Tyr)
c.9100A>T (p.Asn3034Tyr)
c.2314A>T (p.Asn772Tyr)
c.2293A>T (p.Asn765Tyr)
n.9191A>T
5g.90712420A>CCA360396405ADGRV1c.9176A>C (p.Asn3059Thr)
c.265+36211A>C (n.265+36211A>C)
n.4635A>C
c.2983A>C
n.2320A>C
c.3905A>C
c.1873A>C
n.9189A>C
c.9173A>C (p.Asn3058Thr)
c.9095A>C (p.Asn3032Thr)
c.6479A>C (p.Asn2160Thr)
n.437-11T>G
c.9197A>C (p.Asn3066Thr)
c.9194A>C (p.Asn3065Thr)
c.9116A>C (p.Asn3039Thr)
c.9101A>C (p.Asn3034Thr)
c.2315A>C (p.Asn772Thr)
c.2294A>C (p.Asn765Thr)
n.9192A>C
5g.90712420A>GCA360396406ADGRV1c.9176A>G (p.Asn3059Ser)
c.265+36211A>G (n.265+36211A>G)
n.4635A>G
c.2983A>G
n.2320A>G
c.3905A>G
c.1873A>G
n.9189A>G
c.9173A>G (p.Asn3058Ser)
c.9095A>G (p.Asn3032Ser)
c.6479A>G (p.Asn2160Ser)
n.437-11T>C
c.9197A>G (p.Asn3066Ser)
c.9194A>G (p.Asn3065Ser)
c.9116A>G (p.Asn3039Ser)
c.9101A>G (p.Asn3034Ser)
c.2315A>G (p.Asn772Ser)
c.2294A>G (p.Asn765Ser)
n.9192A>G
5g.90712420A>TCA360396407ADGRV1c.9176A>T (p.Asn3059Ile)
c.265+36211A>T (n.265+36211A>T)
n.4635A>T
c.2983A>T
n.2320A>T
c.3905A>T
c.1873A>T
n.9189A>T
c.9173A>T (p.Asn3058Ile)
c.9095A>T (p.Asn3032Ile)
c.6479A>T (p.Asn2160Ile)
n.437-11T>A
c.9197A>T (p.Asn3066Ile)
c.9194A>T (p.Asn3065Ile)
c.9116A>T (p.Asn3039Ile)
c.9101A>T (p.Asn3034Ile)
c.2315A>T (p.Asn772Ile)
c.2294A>T (p.Asn765Ile)
n.9192A>T
 gnomAD v4
5g.90712421T>ACA360396408ADGRV1c.9177T>A (p.Asn3059Lys)
c.265+36212T>A (n.265+36212T>A)
n.4636T>A
c.2984T>A
n.2321T>A
c.3906T>A
c.1874T>A
n.9190T>A
c.9174T>A (p.Asn3058Lys)
c.9096T>A (p.Asn3032Lys)
c.6480T>A (p.Asn2160Lys)
n.437-12A>T
c.9198T>A (p.Asn3066Lys)
c.9195T>A (p.Asn3065Lys)
c.9117T>A (p.Asn3039Lys)
c.9102T>A (p.Asn3034Lys)
c.2316T>A (p.Asn772Lys)
c.2295T>A (p.Asn765Lys)
n.9193T>A
 dbSNP gnomAD v3 gnomAD v4
5g.90712421T>CCA445412145ADGRV1c.9177T>C (p.Asn3059=)
c.265+36212T>C (n.265+36212T>C)
n.4636T>C
c.2984T>C
n.2321T>C
c.3906T>C
c.1874T>C
n.9190T>C
c.9174T>C (p.Asn3058=)
c.9096T>C (p.Asn3032=)
c.6480T>C (p.Asn2160=)
n.437-12A>G
c.9198T>C (p.Asn3066=)
c.9195T>C (p.Asn3065=)
c.9117T>C (p.Asn3039=)
c.9102T>C (p.Asn3034=)
c.2316T>C (p.Asn772=)
c.2295T>C (p.Asn765=)
n.9193T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.90712421T>GCA360396409ADGRV1c.9177T>G (p.Asn3059Lys)
c.265+36212T>G (n.265+36212T>G)
n.4636T>G
c.2984T>G
n.2321T>G
c.3906T>G
c.1874T>G
n.9190T>G
c.9174T>G (p.Asn3058Lys)
c.9096T>G (p.Asn3032Lys)
c.6480T>G (p.Asn2160Lys)
n.437-12A>C
c.9198T>G (p.Asn3066Lys)
c.9195T>G (p.Asn3065Lys)
c.9117T>G (p.Asn3039Lys)
c.9102T>G (p.Asn3034Lys)
c.2316T>G (p.Asn772Lys)
c.2295T>G (p.Asn765Lys)
n.9193T>G
5g.90712421T=CA1562867565ADGRV1c.9177T= (p.Asn3059=)
c.265+36212T= (n.265+36212T=)
n.4636T=
c.2984T=
n.2321T=
c.3906T=
c.1874T=
n.9190T=
c.9174T= (p.Asn3058=)
c.9096T= (p.Asn3032=)
c.6480T= (p.Asn2160=)
n.437-12A=
c.9198T= (p.Asn3066=)
c.9195T= (p.Asn3065=)
c.9117T= (p.Asn3039=)
c.9102T= (p.Asn3034=)
c.2316T= (p.Asn772=)
c.2295T= (p.Asn765=)
n.9193T=
5g.90712422A>CCA360396410ADGRV1c.9178A>C (p.Thr3060Pro)
c.265+36213A>C (n.265+36213A>C)
n.4637A>C
c.2985A>C
n.2322A>C
c.3907A>C
c.1875A>C
n.9191A>C
c.9175A>C (p.Thr3059Pro)
c.9097A>C (p.Thr3033Pro)
c.6481A>C (p.Thr2161Pro)
n.437-13T>G
c.9199A>C (p.Thr3067Pro)
c.9196A>C (p.Thr3066Pro)
c.9118A>C (p.Thr3040Pro)
c.9103A>C (p.Thr3035Pro)
c.2317A>C (p.Thr773Pro)
c.2296A>C (p.Thr766Pro)
n.9194A>C
5g.90712422A>GCA360396411ADGRV1c.9178A>G (p.Thr3060Ala)
c.265+36213A>G (n.265+36213A>G)
n.4637A>G
c.2985A>G
n.2322A>G
c.3907A>G
c.1875A>G
n.9191A>G
c.9175A>G (p.Thr3059Ala)
c.9097A>G (p.Thr3033Ala)
c.6481A>G (p.Thr2161Ala)
n.437-13T>C
c.9199A>G (p.Thr3067Ala)
c.9196A>G (p.Thr3066Ala)
c.9118A>G (p.Thr3040Ala)
c.9103A>G (p.Thr3035Ala)
c.2317A>G (p.Thr773Ala)
c.2296A>G (p.Thr766Ala)
n.9194A>G
 gnomAD v4
5g.90712422A>TCA360396412ADGRV1c.9178A>T (p.Thr3060Ser)
c.265+36213A>T (n.265+36213A>T)
n.4637A>T
c.2985A>T
n.2322A>T
c.3907A>T
c.1875A>T
n.9191A>T
c.9175A>T (p.Thr3059Ser)
c.9097A>T (p.Thr3033Ser)
c.6481A>T (p.Thr2161Ser)
n.437-13T>A
c.9199A>T (p.Thr3067Ser)
c.9196A>T (p.Thr3066Ser)
c.9118A>T (p.Thr3040Ser)
c.9103A>T (p.Thr3035Ser)
c.2317A>T (p.Thr773Ser)
c.2296A>T (p.Thr766Ser)
n.9194A>T
5g.90712422dupCA1139658964ADGRV1c.9178dup (p.Thr3060AsnfsTer10)
c.265+36213dup (n.265+36213dup)
n.4637dup
c.2985dup
n.2322dup
c.3907dup
c.1875dup
n.9191dup
c.9175dup (p.Thr3059AsnfsTer10)
c.9097dup (p.Thr3033AsnfsTer10)
c.6481dup (p.Thr2161AsnfsTer10)
n.437-13dup
c.9199dup (p.Thr3067AsnfsTer10)
c.9196dup (p.Thr3066AsnfsTer10)
c.9118dup (p.Thr3040AsnfsTer10)
c.9103dup (p.Thr3035AsnfsTer10)
c.2317dup (p.Thr773AsnfsTer10)
c.2296dup (p.Thr766AsnfsTer10)
n.9194dup
 ClinVar dbSNP gnomAD v4
5g.90712423C>ACA360396415ADGRV1c.9179C>A (p.Thr3060Lys)
c.265+36214C>A (n.265+36214C>A)
n.4638C>A
c.2986C>A
n.2323C>A
c.3908C>A
c.1876C>A
n.9192C>A
c.9176C>A (p.Thr3059Lys)
c.9098C>A (p.Thr3033Lys)
c.6482C>A (p.Thr2161Lys)
n.437-14G>T
c.9200C>A (p.Thr3067Lys)
c.9197C>A (p.Thr3066Lys)
c.9119C>A (p.Thr3040Lys)
c.9104C>A (p.Thr3035Lys)
c.2318C>A (p.Thr773Lys)
c.2297C>A (p.Thr766Lys)
n.9195C>A
 gnomAD v4
5g.90712423C=CA1562867566ADGRV1c.9179C= (p.Thr3060=)
c.265+36214C= (n.265+36214C=)
n.4638C=
c.2986C=
n.2323C=
c.3908C=
c.1876C=
n.9192C=
c.9176C= (p.Thr3059=)
c.9098C= (p.Thr3033=)
c.6482C= (p.Thr2161=)
n.437-14G=
c.9200C= (p.Thr3067=)
c.9197C= (p.Thr3066=)
c.9119C= (p.Thr3040=)
c.9104C= (p.Thr3035=)
c.2318C= (p.Thr773=)
c.2297C= (p.Thr766=)
n.9195C=
5g.90712423C>GCA360396414ADGRV1c.9179C>G (p.Thr3060Arg)
c.265+36214C>G (n.265+36214C>G)
n.4638C>G
c.2986C>G
n.2323C>G
c.3908C>G
c.1876C>G
n.9192C>G
c.9176C>G (p.Thr3059Arg)
c.9098C>G (p.Thr3033Arg)
c.6482C>G (p.Thr2161Arg)
n.437-14G>C
c.9200C>G (p.Thr3067Arg)
c.9197C>G (p.Thr3066Arg)
c.9119C>G (p.Thr3040Arg)
c.9104C>G (p.Thr3035Arg)
c.2318C>G (p.Thr773Arg)
c.2297C>G (p.Thr766Arg)
n.9195C>G
5g.90712423C>TCA360396413ADGRV1c.9179C>T (p.Thr3060Ile)
c.265+36214C>T (n.265+36214C>T)
n.4638C>T
c.2986C>T
n.2323C>T
c.3908C>T
c.1876C>T
n.9192C>T
c.9176C>T (p.Thr3059Ile)
c.9098C>T (p.Thr3033Ile)
c.6482C>T (p.Thr2161Ile)
n.437-14G>A
c.9200C>T (p.Thr3067Ile)
c.9197C>T (p.Thr3066Ile)
c.9119C>T (p.Thr3040Ile)
c.9104C>T (p.Thr3035Ile)
c.2318C>T (p.Thr773Ile)
c.2297C>T (p.Thr766Ile)
n.9195C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.90712424A>CCA445412155ADGRV1c.9180A>C (p.Thr3060=)
c.265+36215A>C (n.265+36215A>C)
n.4639A>C
c.2987A>C
n.2324A>C
c.3909A>C
c.1877A>C
n.9193A>C
c.9177A>C (p.Thr3059=)
c.9099A>C (p.Thr3033=)
c.6483A>C (p.Thr2161=)
n.437-15T>G
c.9201A>C (p.Thr3067=)
c.9198A>C (p.Thr3066=)
c.9120A>C (p.Thr3040=)
c.9105A>C (p.Thr3035=)
c.2319A>C (p.Thr773=)
c.2298A>C (p.Thr766=)
n.9196A>C
5g.90712424A>GCA445412153ADGRV1c.9180A>G (p.Thr3060=)
c.265+36215A>G (n.265+36215A>G)
n.4639A>G
c.2987A>G
n.2324A>G
c.3909A>G
c.1877A>G
n.9193A>G
c.9177A>G (p.Thr3059=)
c.9099A>G (p.Thr3033=)
c.6483A>G (p.Thr2161=)
n.437-15T>C
c.9201A>G (p.Thr3067=)
c.9198A>G (p.Thr3066=)
c.9120A>G (p.Thr3040=)
c.9105A>G (p.Thr3035=)
c.2319A>G (p.Thr773=)
c.2298A>G (p.Thr766=)
n.9196A>G
5g.90712424A>TCA445412151ADGRV1c.9180A>T (p.Thr3060=)
c.265+36215A>T (n.265+36215A>T)
n.4639A>T
c.2987A>T
n.2324A>T
c.3909A>T
c.1877A>T
n.9193A>T
c.9177A>T (p.Thr3059=)
c.9099A>T (p.Thr3033=)
c.6483A>T (p.Thr2161=)
n.437-15T>A
c.9201A>T (p.Thr3067=)
c.9198A>T (p.Thr3066=)
c.9120A>T (p.Thr3040=)
c.9105A>T (p.Thr3035=)
c.2319A>T (p.Thr773=)
c.2298A>T (p.Thr766=)
n.9196A>T
5g.90712425A=CA1562867567ADGRV1c.9181A= (p.Ile3061=)
c.265+36216A= (n.265+36216A=)
n.4640A=
c.2988A=
n.2325A=
c.3910A=
c.1878A=
n.9194A=
c.9178A= (p.Ile3060=)
c.9100A= (p.Ile3034=)
c.6484A= (p.Ile2162=)
n.437-16T=
c.9202A= (p.Ile3068=)
c.9199A= (p.Ile3067=)
c.9121A= (p.Ile3041=)
c.9106A= (p.Ile3036=)
c.2320A= (p.Ile774=)
c.2299A= (p.Ile767=)
n.9197A=
5g.90712425A>CCA360396416ADGRV1c.9181A>C (p.Ile3061Leu)
c.265+36216A>C (n.265+36216A>C)
n.4640A>C
c.2988A>C
n.2325A>C
c.3910A>C
c.1878A>C
n.9194A>C
c.9178A>C (p.Ile3060Leu)
c.9100A>C (p.Ile3034Leu)
c.6484A>C (p.Ile2162Leu)
n.437-16T>G
c.9202A>C (p.Ile3068Leu)
c.9199A>C (p.Ile3067Leu)
c.9121A>C (p.Ile3041Leu)
c.9106A>C (p.Ile3036Leu)
c.2320A>C (p.Ile774Leu)
c.2299A>C (p.Ile767Leu)
n.9197A>C
5g.90712425A>GCA3340453ADGRV1c.9181A>G (p.Ile3061Val)
c.265+36216A>G (n.265+36216A>G)
n.4640A>G
c.2988A>G
n.2325A>G
c.3910A>G
c.1878A>G
n.9194A>G
c.9178A>G (p.Ile3060Val)
c.9100A>G (p.Ile3034Val)
c.6484A>G (p.Ile2162Val)
n.437-16T>C
c.9202A>G (p.Ile3068Val)
c.9199A>G (p.Ile3067Val)
c.9121A>G (p.Ile3041Val)
c.9106A>G (p.Ile3036Val)
c.2320A>G (p.Ile774Val)
c.2299A>G (p.Ile767Val)
n.9197A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.90712425A>TCA360396417ADGRV1c.9181A>T (p.Ile3061Leu)
c.265+36216A>T (n.265+36216A>T)
n.4640A>T
c.2988A>T
n.2325A>T
c.3910A>T
c.1878A>T
n.9194A>T
c.9178A>T (p.Ile3060Leu)
c.9100A>T (p.Ile3034Leu)
c.6484A>T (p.Ile2162Leu)
n.437-16T>A
c.9202A>T (p.Ile3068Leu)
c.9199A>T (p.Ile3067Leu)
c.9121A>T (p.Ile3041Leu)
c.9106A>T (p.Ile3036Leu)
c.2320A>T (p.Ile774Leu)
c.2299A>T (p.Ile767Leu)
n.9197A>T

Number of alleles fetched