NM_032119.4(ADGRV1):c.16225C>T (p.Arg5409Ter)
|
rs199806093
|
0.00003
|
NM_032119.4(ADGRV1):c.13893+1G>A
|
rs1472239682
|
0.00002
|
NM_032119.4(ADGRV1):c.5524+2T>C
|
rs371375835
|
0.00002
|
NM_032119.4(ADGRV1):c.11581-2A>G
|
rs1204470864
|
0.00001
|
NM_032119.4(ADGRV1):c.12120+1G>A
|
rs766190197
|
0.00001
|
NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp)
|
rs1131691924
|
0.00001
|
NM_032119.4(ADGRV1):c.14366G>A (p.Arg4789Gln)
|
rs765849229
|
0.00001
|
NM_032119.4(ADGRV1):c.14972+1G>T
|
rs780011571
|
0.00001
|
NM_032119.4(ADGRV1):c.14975C>G (p.Ser4992Ter)
|
rs900228710
|
0.00001
|
NM_032119.4(ADGRV1):c.17455-2A>T
|
rs1279862720
|
0.00001
|
NM_032119.4(ADGRV1):c.4378G>A (p.Gly1460Ser)
|
rs1303930496
|
0.00001
|
NM_032119.4(ADGRV1):c.4441C>T (p.Gln1481Ter)
|
rs973342972
|
0.00001
|
NM_032119.4(ADGRV1):c.9042G>C (p.Met3014Ile)
|
rs763733110
|
0.00001
|
NM_032119.4(ADGRV1):c.9623+1G>A
|
rs749982150
|
0.00001
|
NM_032119.4(ADGRV1):c.9749-2del
|
rs1751549898
|
0.00001
|
NM_032119.4(ADGRV1):c.9907-1G>A
|
rs769286352
|
0.00001
|
NC_000005.9:g.(?_89920927)_(89923613_?)dup
|
|
|
NC_000005.9:g.(?_89938433)_(89948400_?)dup
|
|
|
NC_000005.9:g.(?_89938453)_(89949769_?)dup
|
|
|
NM_032119.4(ADGRV1):c.10549+1G>A
|
|
|
NM_032119.4(ADGRV1):c.10935_10938del (p.Ser3646fs)
|
rs1754555183
|
|
NM_032119.4(ADGRV1):c.10974+1G>A
|
rs1754560628
|
|
NM_032119.4(ADGRV1):c.10975-2A>C
|
|
|
NM_032119.4(ADGRV1):c.11377+1G>A
|
rs2149966329
|
|
NM_032119.4(ADGRV1):c.11757+1G>A
|
rs886498535
|
|
NM_032119.4(ADGRV1):c.11757+2T>A
|
rs1755861358
|
|
NM_032119.4(ADGRV1):c.11757+2T>C
|
|
|
NM_032119.4(ADGRV1):c.1180del (p.Ser394fs)
|
rs1400695342
|
|
NM_032119.4(ADGRV1):c.12120+1_12120+2del
|
|
|
NM_032119.4(ADGRV1):c.12285+1G>T
|
|
|
NM_032119.4(ADGRV1):c.12528-17T>G
|
|
|
NM_032119.4(ADGRV1):c.12849+1G>T
|
|
|
NM_032119.4(ADGRV1):c.12850-1G>T
|
rs1758546944
|
|
NM_032119.4(ADGRV1):c.13083-1G>A
|
rs2150094107
|
|
NM_032119.4(ADGRV1):c.13231+1G>A
|
|
|
NM_032119.4(ADGRV1):c.13433+2T>C
|
|
|
NM_032119.4(ADGRV1):c.13434-2A>T
|
|
|
NM_032119.4(ADGRV1):c.13622dup (p.Arg4542fs)
|
rs1759155995
|
|
NM_032119.4(ADGRV1):c.13654-2A>G
|
|
|
NM_032119.4(ADGRV1):c.13894-1G>C
|
|
|
NM_032119.4(ADGRV1):c.14044-1G>A
|
rs1223656686
|
|
NM_032119.4(ADGRV1):c.14662-2A>C
|
rs1761796594
|
|
NM_032119.4(ADGRV1):c.14973-1G>A
|
|
|
NM_032119.4(ADGRV1):c.15980TCT[1] (p.Phe5328del)
|
rs766355750
|
|
NM_032119.4(ADGRV1):c.16197-1G>A
|
rs1561805689
|
|
NM_032119.4(ADGRV1):c.16611+1G>A
|
|
|
NM_032119.4(ADGRV1):c.17235T>G (p.Tyr5745Ter)
|
rs1057520080
|
|
NM_032119.4(ADGRV1):c.17303_17315del (p.Gly5768fs)
|
rs727504644
|
|
NM_032119.4(ADGRV1):c.17455-2A>G
|
rs1279862720
|
|
NM_032119.4(ADGRV1):c.18152+1G>A
|
rs2151049870
|
|
NM_032119.4(ADGRV1):c.18152+1G>T
|
|
|
NM_032119.4(ADGRV1):c.18433-1G>A
|
|
|
NM_032119.4(ADGRV1):c.18433-2A>G
|
|
|
NM_032119.4(ADGRV1):c.18625-1G>T
|
|
|
NM_032119.4(ADGRV1):c.18625-2A>G
|
|
|
NM_032119.4(ADGRV1):c.23-1G>A
|
|
|
NM_032119.4(ADGRV1):c.2553+1G>A
|
|
|
NM_032119.4(ADGRV1):c.2785_2898+82del
|
rs2149436201
|
|
NM_032119.4(ADGRV1):c.3022+2T>G
|
|
|
NM_032119.4(ADGRV1):c.3151_3152del (p.Asp1051fs)
|
|
|
NM_032119.4(ADGRV1):c.3289+1G>A
|
rs1221977534
|
|
NM_032119.4(ADGRV1):c.3G>A (p.Met1Ile)
|
|
|
NM_032119.4(ADGRV1):c.425dup (p.Asn142fs)
|
|
|
NM_032119.4(ADGRV1):c.4379-1G>A
|
rs1432643009
|
|
NM_032119.4(ADGRV1):c.558+1G>T
|
|
|
NM_032119.4(ADGRV1):c.5664+1G>A
|
|
|
NM_032119.4(ADGRV1):c.5967dup (p.Val1990fs)
|
rs778288846
|
|
NM_032119.4(ADGRV1):c.6245_6249del (p.Thr2082fs)
|
|
|
NM_032119.4(ADGRV1):c.6707-1G>T
|
|
|
NM_032119.4(ADGRV1):c.673-2A>G
|
rs2149375770
|
|
NM_032119.4(ADGRV1):c.6786_6790delinsCGGTGG (p.Thr2264fs)
|
rs1746377687
|
|
NM_032119.4(ADGRV1):c.8155+2_8155+3del
|
|
|
NM_032119.4(ADGRV1):c.8156-1G>A
|
|
|
NM_032119.4(ADGRV1):c.8347G>T (p.Glu2783Ter)
|
|
|
NM_032119.4(ADGRV1):c.8824+1G>A
|
rs2149707525
|
|
NM_032119.4(ADGRV1):c.9178dup (p.Thr3060fs)
|
rs1749485242
|
|
NM_032119.4(ADGRV1):c.9749-1G>T
|
|
|