Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
Y | g.12846270T>C | CA2766242282 | USP9Y | c.6569-63T>C (n.6569-63T>C) n.6596-63T>C c.6335-63T>C (n.6335-63T>C) c.6584-63T>C (n.6584-63T>C) | |
Y | g.12846270T>G | CA2766242283 | USP9Y | c.6569-63T>G (n.6569-63T>G) n.6596-63T>G c.6335-63T>G (n.6335-63T>G) c.6584-63T>G (n.6584-63T>G) | |
Y | g.12846272T>C | CA2766242284 | USP9Y | c.6569-61T>C (n.6569-61T>C) n.6596-61T>C c.6335-61T>C (n.6335-61T>C) c.6584-61T>C (n.6584-61T>C) | |
Y | g.12846273T>C | CA2766242285 | USP9Y | c.6569-60T>C (n.6569-60T>C) n.6596-60T>C c.6335-60T>C (n.6335-60T>C) c.6584-60T>C (n.6584-60T>C) | |
Y | g.12846273_12846274insATA | CA2824887233 | USP9Y | c.6569-60_6569-59insATA (n.6569-60_6569-59insATA) n.6596-60_6596-59insATA c.6335-60_6335-59insATA (n.6335-60_6335-59insATA) c.6584-60_6584-59insATA (n.6584-60_6584-59insATA) | |
Y | g.12846274G>A | CA2766242286 | USP9Y | c.6569-59G>A (n.6569-59G>A) n.6596-59G>A c.6335-59G>A (n.6335-59G>A) c.6584-59G>A (n.6584-59G>A) | |
Y | g.12846274G>T | CA1139769376 | USP9Y | c.6569-59G>T (n.6569-59G>T) n.6596-59G>T c.6335-59G>T (n.6335-59G>T) c.6584-59G>T (n.6584-59G>T) | |
Y | g.12846276A>G | CA2766242287 | USP9Y | c.6569-57A>G (n.6569-57A>G) n.6596-57A>G c.6335-57A>G (n.6335-57A>G) c.6584-57A>G (n.6584-57A>G) | |
Y | g.12846284_12846291del | CA2766242288 | USP9Y | c.6569-49_6569-42del (n.6569-49_6569-42del) n.6596-49_6596-42del c.6335-49_6335-42del (n.6335-49_6335-42del) c.6584-49_6584-42del (n.6584-49_6584-42del) | |
Y | g.12846282T>C | CA2766242289 | USP9Y | c.6569-51T>C (n.6569-51T>C) n.6596-51T>C c.6335-51T>C (n.6335-51T>C) c.6584-51T>C (n.6584-51T>C) | |
Y | g.12846283A= | CA2470561131 | USP9Y | c.6569-50A= (n.6569-50A=) n.6596-50A= c.6335-50A= (n.6335-50A=) c.6584-50A= (n.6584-50A=) | |
Y | g.12846283A>C | CA337721101 | USP9Y | c.6569-50A>C (n.6569-50A>C) n.6596-50A>C c.6335-50A>C (n.6335-50A>C) c.6584-50A>C (n.6584-50A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
Y | g.12846283A>T | CA1139769377 | USP9Y | c.6569-50A>T (n.6569-50A>T) n.6596-50A>T c.6335-50A>T (n.6335-50A>T) c.6584-50A>T (n.6584-50A>T) | |
Y | g.12846284C= | CA2470561132 | USP9Y | c.6569-49C= (n.6569-49C=) n.6596-49C= c.6335-49C= (n.6335-49C=) c.6584-49C= (n.6584-49C=) | |
Y | g.12846284C>T | CA10573489 | USP9Y | c.6569-49C>T (n.6569-49C>T) n.6596-49C>T c.6335-49C>T (n.6335-49C>T) c.6584-49C>T (n.6584-49C>T) | dbSNP ExAC |
Y | g.12846285C= | CA2470561133 | USP9Y | c.6569-48C= (n.6569-48C=) n.6596-48C= c.6335-48C= (n.6335-48C=) c.6584-48C= (n.6584-48C=) | |
Y | g.12846285C>T | CA10573490 | USP9Y | c.6569-48C>T (n.6569-48C>T) n.6596-48C>T c.6335-48C>T (n.6335-48C>T) c.6584-48C>T (n.6584-48C>T) | dbSNP ExAC |
Y | g.12846286C>G | CA2766242290 | USP9Y | c.6569-47C>G (n.6569-47C>G) n.6596-47C>G c.6335-47C>G (n.6335-47C>G) c.6584-47C>G (n.6584-47C>G) | |
Y | g.12846287T>A | CA10573491 | USP9Y | c.6569-46T>A (n.6569-46T>A) n.6596-46T>A c.6335-46T>A (n.6335-46T>A) c.6584-46T>A (n.6584-46T>A) | dbSNP ExAC |
Y | g.12846287T>G | CA645286643 | USP9Y | c.6569-46T>G (n.6569-46T>G) n.6596-46T>G c.6335-46T>G (n.6335-46T>G) c.6584-46T>G (n.6584-46T>G) | dbSNP gnomAD v2 |
Y | g.12846287T= | CA2470561134 | USP9Y | c.6569-46T= (n.6569-46T=) n.6596-46T= c.6335-46T= (n.6335-46T=) c.6584-46T= (n.6584-46T=) | |
Y | g.12846290T>C | CA10573492 | USP9Y | c.6569-43T>C (n.6569-43T>C) n.6596-43T>C c.6335-43T>C (n.6335-43T>C) c.6584-43T>C (n.6584-43T>C) | dbSNP ExAC |
Y | g.12846290T= | CA2470561135 | USP9Y | c.6569-43T= (n.6569-43T=) n.6596-43T= c.6335-43T= (n.6335-43T=) c.6584-43T= (n.6584-43T=) | |
Y | g.12846291A>T | CA2579748156 | USP9Y | c.6569-42A>T (n.6569-42A>T) n.6596-42A>T c.6335-42A>T (n.6335-42A>T) c.6584-42A>T (n.6584-42A>T) | |
Y | g.12846292G>T | CA337721102 | USP9Y | c.6569-41G>T (n.6569-41G>T) n.6596-41G>T c.6335-41G>T (n.6335-41G>T) c.6584-41G>T (n.6584-41G>T) | |
Y | g.12846292_12846293delinsGT | CA2470561136 | USP9Y | c.6569-41_6569-40delinsGT (n.6569-41_6569-40delinsGT) n.6596-41_6596-40delinsGT c.6335-41_6335-40delinsGT (n.6335-41_6335-40delinsGT) c.6584-41_6584-40delinsGT (n.6584-41_6584-40delinsGT) | |
Y | g.12846292_12846293insC | CA2824887238 | USP9Y | c.6569-41_6569-40insC (n.6569-41_6569-40insC) n.6596-41_6596-40insC c.6335-41_6335-40insC (n.6335-41_6335-40insC) c.6584-41_6584-40insC (n.6584-41_6584-40insC) | |
Y | g.12846292_12846293insCT | CA2824887237 | USP9Y | c.6569-41_6569-40insCT (n.6569-41_6569-40insCT) n.6596-41_6596-40insCT c.6335-41_6335-40insCT (n.6335-41_6335-40insCT) c.6584-41_6584-40insCT (n.6584-41_6584-40insCT) | |
Y | g.12846292_12846293insCTT | CA2824887234 | USP9Y | c.6569-41_6569-40insCTT (n.6569-41_6569-40insCTT) n.6596-41_6596-40insCTT c.6335-41_6335-40insCTT (n.6335-41_6335-40insCTT) c.6584-41_6584-40insCTT (n.6584-41_6584-40insCTT) | |
Y | g.12846293T>C | CA337721105 | USP9Y | c.6569-40T>C (n.6569-40T>C) n.6596-40T>C c.6335-40T>C (n.6335-40T>C) c.6584-40T>C (n.6584-40T>C) | dbSNP gnomAD v3 gnomAD v4 |
Y | g.12846293T>G | CA2470561137 | USP9Y | c.6569-40T>G (n.6569-40T>G) n.6596-40T>G c.6335-40T>G (n.6335-40T>G) c.6584-40T>G (n.6584-40T>G) | dbSNP |
Y | g.12846293T= | CA10573493 | USP9Y | c.6569-40T= (n.6569-40T=) n.6596-40T= c.6335-40T= (n.6335-40T=) c.6584-40T= (n.6584-40T=) | |
Y | g.12846301_12846302insTTTTTTTTTTTTTTT | CA2824887235 | USP9Y | c.6569-32_6569-31insTTTTTTTTTTTTTTT (n.6569-32_6569-31insTTTTTTTTTTTTTTT) n.6596-32_6596-31insTTTTTTTTTTTTTTT c.6335-32_6335-31insTTTTTTTTTTTTTTT (n.6335-32_6335-31insTTTTTTTTTTTTTTT) c.6584-32_6584-31insTTTTTTTTTTTTTTT (n.6584-32_6584-31insTTTTTTTTTTTTTTT) | |
Y | g.12846301dup | CA337721103 | USP9Y | c.6569-32dup (n.6569-32dup) n.6596-32dup c.6335-32dup (n.6335-32dup) c.6584-32dup (n.6584-32dup) | dbSNP gnomAD v3 gnomAD v4 |
Y | g.12846300_12846301dup | CA2824887236 | USP9Y | c.6569-33_6569-32dup (n.6569-33_6569-32dup) n.6596-33_6596-32dup c.6335-33_6335-32dup (n.6335-33_6335-32dup) c.6584-33_6584-32dup (n.6584-33_6584-32dup) | |
Y | g.12846301del | CA337721104 | USP9Y | c.6569-32del (n.6569-32del) n.6596-32del c.6335-32del (n.6335-32del) c.6584-32del (n.6584-32del) | dbSNP |
Y | g.12846294T>C | CA10573494 | USP9Y | c.6569-39T>C (n.6569-39T>C) n.6596-39T>C c.6335-39T>C (n.6335-39T>C) c.6584-39T>C (n.6584-39T>C) | dbSNP ExAC gnomAD v2 |
Y | g.12846294T= | CA2470561138 | USP9Y | c.6569-39T= (n.6569-39T=) n.6596-39T= c.6335-39T= (n.6335-39T=) c.6584-39T= (n.6584-39T=) | |
Y | g.12846299T>A | CA2824887239 | USP9Y | c.6569-34T>A (n.6569-34T>A) n.6596-34T>A c.6335-34T>A (n.6335-34T>A) c.6584-34T>A (n.6584-34T>A) | |
Y | g.12846299T>G | CA645286644 | USP9Y | c.6569-34T>G (n.6569-34T>G) n.6596-34T>G c.6335-34T>G (n.6335-34T>G) c.6584-34T>G (n.6584-34T>G) | dbSNP gnomAD v2 |
Y | g.12846299T= | CA2470561139 | USP9Y | c.6569-34T= (n.6569-34T=) n.6596-34T= c.6335-34T= (n.6335-34T=) c.6584-34T= (n.6584-34T=) | |
Y | g.12846301T>C | CA10573495 | USP9Y | c.6569-32T>C (n.6569-32T>C) n.6596-32T>C c.6335-32T>C (n.6335-32T>C) c.6584-32T>C (n.6584-32T>C) | dbSNP ExAC gnomAD v2 |
Y | g.12846301T= | CA2470561140 | USP9Y | c.6569-32T= (n.6569-32T=) n.6596-32T= c.6335-32T= (n.6335-32T=) c.6584-32T= (n.6584-32T=) | |
Y | g.12846302C= | CA2470561141 | USP9Y | c.6569-31C= (n.6569-31C=) n.6596-31C= c.6335-31C= (n.6335-31C=) c.6584-31C= (n.6584-31C=) | |
Y | g.12846302C>T | CA645286645 | USP9Y | c.6569-31C>T (n.6569-31C>T) n.6596-31C>T c.6335-31C>T (n.6335-31C>T) c.6584-31C>T (n.6584-31C>T) | dbSNP gnomAD v2 |
Y | g.12846302dup | CA2579748157 | USP9Y | c.6569-31dup (n.6569-31dup) n.6596-31dup c.6335-31dup (n.6335-31dup) c.6584-31dup (n.6584-31dup) | |
Y | g.12846304A= | CA2470561142 | USP9Y | c.6569-29A= (n.6569-29A=) n.6596-29A= c.6335-29A= (n.6335-29A=) c.6584-29A= (n.6584-29A=) | |
Y | g.12846304A>G | CA2766242291 | USP9Y | c.6569-29A>G (n.6569-29A>G) n.6596-29A>G c.6335-29A>G (n.6335-29A>G) c.6584-29A>G (n.6584-29A>G) | |
Y | g.12846304A>T | CA1139769380 | USP9Y | c.6569-29A>T (n.6569-29A>T) n.6596-29A>T c.6335-29A>T (n.6335-29A>T) c.6584-29A>T (n.6584-29A>T) | dbSNP |
Y | g.12846305C>A | CA2579748158 | USP9Y | c.6569-28C>A (n.6569-28C>A) n.6596-28C>A c.6335-28C>A (n.6335-28C>A) c.6584-28C>A (n.6584-28C>A) | |
Y | g.12846305C= | CA2470561143 | USP9Y | c.6569-28C= (n.6569-28C=) n.6596-28C= c.6335-28C= (n.6335-28C=) c.6584-28C= (n.6584-28C=) | |
Y | g.12846305C>G | CA645286646 | USP9Y | c.6569-28C>G (n.6569-28C>G) n.6596-28C>G c.6335-28C>G (n.6335-28C>G) c.6584-28C>G (n.6584-28C>G) | dbSNP gnomAD v2 |
Y | g.12846305C>T | CA645286647 | USP9Y | c.6569-28C>T (n.6569-28C>T) n.6596-28C>T c.6335-28C>T (n.6335-28C>T) c.6584-28C>T (n.6584-28C>T) | dbSNP gnomAD v2 |
Y | g.12846306A= | CA2470561144 | USP9Y | c.6569-27A= (n.6569-27A=) n.6596-27A= c.6335-27A= (n.6335-27A=) c.6584-27A= (n.6584-27A=) | |
Y | g.12846306A>G | CA2564705206 | USP9Y | c.6569-27A>G (n.6569-27A>G) n.6596-27A>G c.6335-27A>G (n.6335-27A>G) c.6584-27A>G (n.6584-27A>G) | |
Y | g.12846306A>T | CA2470561145 | USP9Y | c.6569-27A>T (n.6569-27A>T) n.6596-27A>T c.6335-27A>T (n.6335-27A>T) c.6584-27A>T (n.6584-27A>T) | dbSNP |
Y | g.12846308A= | CA2470561146 | USP9Y | c.6569-25A= (n.6569-25A=) n.6596-25A= c.6335-25A= (n.6335-25A=) c.6584-25A= (n.6584-25A=) | |
Y | g.12846308A>G | CA2579748159 | USP9Y | c.6569-25A>G (n.6569-25A>G) n.6596-25A>G c.6335-25A>G (n.6335-25A>G) c.6584-25A>G (n.6584-25A>G) | |
Y | g.12846308A>T | CA2470561147 | USP9Y | c.6569-25A>T (n.6569-25A>T) n.6596-25A>T c.6335-25A>T (n.6335-25A>T) c.6584-25A>T (n.6584-25A>T) | dbSNP |
Y | g.12846311A>T | CA2824887240 | USP9Y | c.6569-22A>T (n.6569-22A>T) n.6596-22A>T c.6335-22A>T (n.6335-22A>T) c.6584-22A>T (n.6584-22A>T) | |
Y | g.12846316del | CA2579748160 | USP9Y | c.6569-17del (n.6569-17del) n.6596-17del c.6335-17del (n.6335-17del) c.6584-17del (n.6584-17del) | |
Y | g.12846317C>T | CA2824887241 | USP9Y | c.6569-16C>T (n.6569-16C>T) n.6596-16C>T c.6335-16C>T (n.6335-16C>T) c.6584-16C>T (n.6584-16C>T) | |
Y | g.12846319G>T | CA2520395028 | USP9Y | c.6569-14G>T (n.6569-14G>T) n.6596-14G>T c.6335-14G>T (n.6335-14G>T) c.6584-14G>T (n.6584-14G>T) | |
Y | g.12846323T>C | CA2470561149 | USP9Y | c.6569-10T>C (n.6569-10T>C) n.6596-10T>C c.6335-10T>C (n.6335-10T>C) c.6584-10T>C (n.6584-10T>C) | dbSNP |
Y | g.12846323T= | CA2470561148 | USP9Y | c.6569-10T= (n.6569-10T=) n.6596-10T= c.6335-10T= (n.6335-10T=) c.6584-10T= (n.6584-10T=) | |
Y | g.12846328del | CA2502670597 | USP9Y | c.6569-5del (n.6569-5del) n.6596-5del c.6335-5del (n.6335-5del) c.6584-5del (n.6584-5del) | |
Y | g.12846324T>G | CA645286648 | USP9Y | c.6569-9T>G (n.6569-9T>G) n.6596-9T>G c.6335-9T>G (n.6335-9T>G) c.6584-9T>G (n.6584-9T>G) | dbSNP gnomAD v2 |
Y | g.12846324T= | CA2470561150 | USP9Y | c.6569-9T= (n.6569-9T=) n.6596-9T= c.6335-9T= (n.6335-9T=) c.6584-9T= (n.6584-9T=) | |
Y | g.12846327T>G | CA2766242292 | USP9Y | c.6569-6T>G (n.6569-6T>G) n.6596-6T>G c.6335-6T>G (n.6335-6T>G) c.6584-6T>G (n.6584-6T>G) | |
Y | g.12846328T>C | CA2824887242 | USP9Y | c.6569-5T>C (n.6569-5T>C) n.6596-5T>C c.6335-5T>C (n.6335-5T>C) c.6584-5T>C (n.6584-5T>C) | |
Y | g.12846331A>C | CA415007243 | USP9Y | c.6569-2A>C (n.6569-2A>C) n.6596-2A>C c.6335-2A>C (n.6335-2A>C) c.6584-2A>C (n.6584-2A>C) | |
Y | g.12846331A>G | CA415007246 | USP9Y | c.6569-2A>G (n.6569-2A>G) n.6596-2A>G c.6335-2A>G (n.6335-2A>G) c.6584-2A>G (n.6584-2A>G) | |
Y | g.12846331A>T | CA415007249 | USP9Y | c.6569-2A>T (n.6569-2A>T) n.6596-2A>T c.6335-2A>T (n.6335-2A>T) c.6584-2A>T (n.6584-2A>T) | |
Y | g.12846332G>A | CA415007254 | USP9Y | c.6569-1G>A (n.6569-1G>A) n.6596-1G>A c.6335-1G>A (n.6335-1G>A) c.6584-1G>A (n.6584-1G>A) | |
Y | g.12846332G>C | CA415007253 | USP9Y | c.6569-1G>C (n.6569-1G>C) n.6596-1G>C c.6335-1G>C (n.6335-1G>C) c.6584-1G>C (n.6584-1G>C) | |
Y | g.12846332G>T | CA415007252 | USP9Y | c.6569-1G>T (n.6569-1G>T) n.6596-1G>T c.6335-1G>T (n.6335-1G>T) c.6584-1G>T (n.6584-1G>T) | |
Y | g.12846333G>A | CA415007256 | USP9Y | c.6569G>A (p.Gly2190Asp) n.6596G>A c.6335G>A (p.Gly2112Asp) c.6584G>A (p.Gly2195Asp) | |
Y | g.12846333G>C | CA415007259 | USP9Y | c.6569G>C (p.Gly2190Ala) n.6596G>C c.6335G>C (p.Gly2112Ala) c.6584G>C (p.Gly2195Ala) | |
Y | g.12846333G>T | CA415007261 | USP9Y | c.6569G>T (p.Gly2190Val) n.6596G>T c.6335G>T (p.Gly2112Val) c.6584G>T (p.Gly2195Val) | |
Y | g.12846334T>A | CA519905872 | USP9Y | c.6570T>A (p.Gly2190=) n.6597T>A c.6336T>A (p.Gly2112=) c.6585T>A (p.Gly2195=) | |
Y | g.12846334T>C | CA519905873 | USP9Y | c.6570T>C (p.Gly2190=) n.6597T>C c.6336T>C (p.Gly2112=) c.6585T>C (p.Gly2195=) | |
Y | g.12846334T>G | CA519905874 | USP9Y | c.6570T>G (p.Gly2190=) n.6597T>G c.6336T>G (p.Gly2112=) c.6585T>G (p.Gly2195=) | |
Y | g.12846335G>A | CA415007262 | USP9Y | c.6571G>A (p.Val2191Met) n.6598G>A c.6337G>A (p.Val2113Met) c.6586G>A (p.Val2196Met) | |
Y | g.12846335G>C | CA415007265 | USP9Y | c.6571G>C (p.Val2191Leu) n.6598G>C c.6337G>C (p.Val2113Leu) c.6586G>C (p.Val2196Leu) | |
Y | g.12846335G>T | CA415007268 | USP9Y | c.6571G>T (p.Val2191Leu) n.6598G>T c.6337G>T (p.Val2113Leu) c.6586G>T (p.Val2196Leu) | |
Y | g.12846336T>A | CA415007271 | USP9Y | c.6572T>A (p.Val2191Glu) n.6599T>A c.6338T>A (p.Val2113Glu) c.6587T>A (p.Val2196Glu) | |
Y | g.12846336T>C | CA415007274 | USP9Y | c.6572T>C (p.Val2191Ala) n.6599T>C c.6338T>C (p.Val2113Ala) c.6587T>C (p.Val2196Ala) | |
Y | g.12846336T>G | CA415007272 | USP9Y | c.6572T>G (p.Val2191Gly) n.6599T>G c.6338T>G (p.Val2113Gly) c.6587T>G (p.Val2196Gly) | |
Y | g.12846337G>A | CA519905875 | USP9Y | c.6573G>A (p.Val2191=) n.6600G>A c.6339G>A (p.Val2113=) c.6588G>A (p.Val2196=) | |
Y | g.12846337G>C | CA519905876 | USP9Y | c.6573G>C (p.Val2191=) n.6600G>C c.6339G>C (p.Val2113=) c.6588G>C (p.Val2196=) | |
Y | g.12846337G>T | CA519905877 | USP9Y | c.6573G>T (p.Val2191=) n.6600G>T c.6339G>T (p.Val2113=) c.6588G>T (p.Val2196=) | |
Y | g.12846338G>A | CA415007277 | USP9Y | c.6574G>A (p.Ala2192Thr) n.6601G>A c.6340G>A (p.Ala2114Thr) c.6589G>A (p.Ala2197Thr) | |
Y | g.12846338G>C | CA415007279 | USP9Y | c.6574G>C (p.Ala2192Pro) n.6601G>C c.6340G>C (p.Ala2114Pro) c.6589G>C (p.Ala2197Pro) | |
Y | g.12846338G>T | CA415007281 | USP9Y | c.6574G>T (p.Ala2192Ser) n.6601G>T c.6340G>T (p.Ala2114Ser) c.6589G>T (p.Ala2197Ser) | |
Y | g.12846339C>A | CA415007283 | USP9Y | c.6575C>A (p.Ala2192Glu) n.6602C>A c.6341C>A (p.Ala2114Glu) c.6590C>A (p.Ala2197Glu) | |
Y | g.12846339C>G | CA415007285 | USP9Y | c.6575C>G (p.Ala2192Gly) n.6602C>G c.6341C>G (p.Ala2114Gly) c.6590C>G (p.Ala2197Gly) | |
Y | g.12846339C>T | CA415007288 | USP9Y | c.6575C>T (p.Ala2192Val) n.6602C>T c.6341C>T (p.Ala2114Val) c.6590C>T (p.Ala2197Val) | |
Y | g.12846340A>C | CA519905878 | USP9Y | c.6576A>C (p.Ala2192=) n.6603A>C c.6342A>C (p.Ala2114=) c.6591A>C (p.Ala2197=) | |
Y | g.12846340A>G | CA519905879 | USP9Y | c.6576A>G (p.Ala2192=) n.6603A>G c.6342A>G (p.Ala2114=) c.6591A>G (p.Ala2197=) | |
Y | g.12846340A>T | CA519905880 | USP9Y | c.6576A>T (p.Ala2192=) n.6603A>T c.6342A>T (p.Ala2114=) c.6591A>T (p.Ala2197=) | |
Y | g.12846341G>A | CA415007292 | USP9Y | c.6577G>A (p.Glu2193Lys) n.6604G>A c.6343G>A (p.Glu2115Lys) c.6592G>A (p.Glu2198Lys) | |
Y | g.12846341G>C | CA415007293 | USP9Y | c.6577G>C (p.Glu2193Gln) n.6604G>C c.6343G>C (p.Glu2115Gln) c.6592G>C (p.Glu2198Gln) | |
Y | g.12846341G>T | CA415007295 | USP9Y | c.6577G>T (p.Glu2193Ter) n.6604G>T c.6343G>T (p.Glu2115Ter) c.6592G>T (p.Glu2198Ter) | |
Y | g.12846342A>C | CA415007297 | USP9Y | c.6578A>C (p.Glu2193Ala) n.6605A>C c.6344A>C (p.Glu2115Ala) c.6593A>C (p.Glu2198Ala) | |
Y | g.12846342A>G | CA415007298 | USP9Y | c.6578A>G (p.Glu2193Gly) n.6605A>G c.6344A>G (p.Glu2115Gly) c.6593A>G (p.Glu2198Gly) | |
Y | g.12846342A>T | CA415007300 | USP9Y | c.6578A>T (p.Glu2193Val) n.6605A>T c.6344A>T (p.Glu2115Val) c.6593A>T (p.Glu2198Val) | |
Y | g.12846347dup | CA2766242293 | USP9Y | c.6583dup (p.Thr2195AsnfsTer?) n.6610dup c.6349dup (p.Thr2117AsnfsTer?) c.6598dup (p.Thr2200AsnfsTer?) | |
Y | g.12846343A>C | CA415007304 | USP9Y | c.6579A>C (p.Glu2193Asp) n.6606A>C c.6345A>C (p.Glu2115Asp) c.6594A>C (p.Glu2198Asp) | |
Y | g.12846343A>G | CA519905881 | USP9Y | c.6579A>G (p.Glu2193=) n.6606A>G c.6345A>G (p.Glu2115=) c.6594A>G (p.Glu2198=) | |
Y | g.12846343A>T | CA415007306 | USP9Y | c.6579A>T (p.Glu2193Asp) n.6606A>T c.6345A>T (p.Glu2115Asp) c.6594A>T (p.Glu2198Asp) | |
Y | g.12846344A>C | CA415007308 | USP9Y | c.6580A>C (p.Lys2194Gln) n.6607A>C c.6346A>C (p.Lys2116Gln) c.6595A>C (p.Lys2199Gln) | |
Y | g.12846344A>G | CA415007313 | USP9Y | c.6580A>G (p.Lys2194Glu) n.6607A>G c.6346A>G (p.Lys2116Glu) c.6595A>G (p.Lys2199Glu) | |
Y | g.12846344A>T | CA415007310 | USP9Y | c.6580A>T (p.Lys2194Ter) n.6607A>T c.6346A>T (p.Lys2116Ter) c.6595A>T (p.Lys2199Ter) | |
Y | g.12846345A>C | CA415007314 | USP9Y | c.6581A>C (p.Lys2194Thr) n.6608A>C c.6347A>C (p.Lys2116Thr) c.6596A>C (p.Lys2199Thr) | |
Y | g.12846345A>G | CA415007317 | USP9Y | c.6581A>G (p.Lys2194Arg) n.6608A>G c.6347A>G (p.Lys2116Arg) c.6596A>G (p.Lys2199Arg) | |
Y | g.12846345A>T | CA415007318 | USP9Y | c.6581A>T (p.Lys2194Ile) n.6608A>T c.6347A>T (p.Lys2116Ile) c.6596A>T (p.Lys2199Ile) | |
Y | g.12846346A>C | CA415007320 | USP9Y | c.6582A>C (p.Lys2194Asn) n.6609A>C c.6348A>C (p.Lys2116Asn) c.6597A>C (p.Lys2199Asn) | |
Y | g.12846346A>G | CA519905882 | USP9Y | c.6582A>G (p.Lys2194=) n.6609A>G c.6348A>G (p.Lys2116=) c.6597A>G (p.Lys2199=) | |
Y | g.12846346A>T | CA415007323 | USP9Y | c.6582A>T (p.Lys2194Asn) n.6609A>T c.6348A>T (p.Lys2116Asn) c.6597A>T (p.Lys2199Asn) | |
Y | g.12846347A>C | CA415007324 | USP9Y | c.6583A>C (p.Thr2195Pro) n.6610A>C c.6349A>C (p.Thr2117Pro) c.6598A>C (p.Thr2200Pro) | |
Y | g.12846347A>G | CA415007325 | USP9Y | c.6583A>G (p.Thr2195Ala) n.6610A>G c.6349A>G (p.Thr2117Ala) c.6598A>G (p.Thr2200Ala) | |
Y | g.12846347A>T | CA415007328 | USP9Y | c.6583A>T (p.Thr2195Ser) n.6610A>T c.6349A>T (p.Thr2117Ser) c.6598A>T (p.Thr2200Ser) | |
Y | g.12846348C>A | CA415007332 | USP9Y | c.6584C>A (p.Thr2195Lys) n.6611C>A c.6350C>A (p.Thr2117Lys) c.6599C>A (p.Thr2200Lys) | |
Y | g.12846348C>G | CA415007333 | USP9Y | c.6584C>G (p.Thr2195Arg) n.6611C>G c.6350C>G (p.Thr2117Arg) c.6599C>G (p.Thr2200Arg) | |
Y | g.12846348C>T | CA415007337 | USP9Y | c.6584C>T (p.Thr2195Ile) n.6611C>T c.6350C>T (p.Thr2117Ile) c.6599C>T (p.Thr2200Ile) | |
Y | g.12846349A>C | CA519905883 | USP9Y | c.6585A>C (p.Thr2195=) n.6612A>C c.6351A>C (p.Thr2117=) c.6600A>C (p.Thr2200=) | |
Y | g.12846349A>G | CA519905885 | USP9Y | c.6585A>G (p.Thr2195=) n.6612A>G c.6351A>G (p.Thr2117=) c.6600A>G (p.Thr2200=) | |
Y | g.12846349A>T | CA519905884 | USP9Y | c.6585A>T (p.Thr2195=) n.6612A>T c.6351A>T (p.Thr2117=) c.6600A>T (p.Thr2200=) | |
Y | g.12846350C>A | CA415007341 | USP9Y | c.6586C>A (p.Gln2196Lys) n.6613C>A c.6352C>A (p.Gln2118Lys) c.6601C>A (p.Gln2201Lys) | |
Y | g.12846350C= | CA2470561151 | USP9Y | c.6586C= (p.Gln2196=) n.6613C= c.6352C= (p.Gln2118=) c.6601C= (p.Gln2201=) | |
Y | g.12846350C>G | CA415007338 | USP9Y | c.6586C>G (p.Gln2196Glu) n.6613C>G c.6352C>G (p.Gln2118Glu) c.6601C>G (p.Gln2201Glu) | dbSNP |
Y | g.12846350C>T | CA415007340 | USP9Y | c.6586C>T (p.Gln2196Ter) n.6613C>T c.6352C>T (p.Gln2118Ter) c.6601C>T (p.Gln2201Ter) | |
Y | g.12846351A>C | CA415007343 | USP9Y | c.6587A>C (p.Gln2196Pro) n.6614A>C c.6353A>C (p.Gln2118Pro) c.6602A>C (p.Gln2201Pro) | |
Y | g.12846351A>G | CA415007345 | USP9Y | c.6587A>G (p.Gln2196Arg) n.6614A>G c.6353A>G (p.Gln2118Arg) c.6602A>G (p.Gln2201Arg) | |
Y | g.12846351A>T | CA415007347 | USP9Y | c.6587A>T (p.Gln2196Leu) n.6614A>T c.6353A>T (p.Gln2118Leu) c.6602A>T (p.Gln2201Leu) | |
Y | g.12846352G>A | CA519905889 | USP9Y | c.6588G>A (p.Gln2196=) n.6615G>A c.6354G>A (p.Gln2118=) c.6603G>A (p.Gln2201=) | |
Y | g.12846352G>C | CA415007349 | USP9Y | c.6588G>C (p.Gln2196His) n.6615G>C c.6354G>C (p.Gln2118His) c.6603G>C (p.Gln2201His) | |
Y | g.12846352G>T | CA415007350 | USP9Y | c.6588G>T (p.Gln2196His) n.6615G>T c.6354G>T (p.Gln2118His) c.6603G>T (p.Gln2201His) | |
Y | g.12846353C>A | CA415007354 | USP9Y | c.6589C>A (p.Leu2197Ile) n.6616C>A c.6355C>A (p.Leu2119Ile) c.6604C>A (p.Leu2202Ile) | |
Y | g.12846353C>G | CA415007357 | USP9Y | c.6589C>G (p.Leu2197Val) n.6616C>G c.6355C>G (p.Leu2119Val) c.6604C>G (p.Leu2202Val) | |
Y | g.12846353C>T | CA415007359 | USP9Y | c.6589C>T (p.Leu2197Phe) n.6616C>T c.6355C>T (p.Leu2119Phe) c.6604C>T (p.Leu2202Phe) | |
Y | g.12846354T>A | CA415007360 | USP9Y | c.6590T>A (p.Leu2197His) n.6617T>A c.6356T>A (p.Leu2119His) c.6605T>A (p.Leu2202His) | |
Y | g.12846354T>C | CA415007362 | USP9Y | c.6590T>C (p.Leu2197Pro) n.6617T>C c.6356T>C (p.Leu2119Pro) c.6605T>C (p.Leu2202Pro) | |
Y | g.12846354T>G | CA415007364 | USP9Y | c.6590T>G (p.Leu2197Arg) n.6617T>G c.6356T>G (p.Leu2119Arg) c.6605T>G (p.Leu2202Arg) | |
Y | g.12846355T>A | CA519905892 | USP9Y | c.6591T>A (p.Leu2197=) n.6618T>A c.6357T>A (p.Leu2119=) c.6606T>A (p.Leu2202=) | |
Y | g.12846355T>C | CA519905894 | USP9Y | c.6591T>C (p.Leu2197=) n.6618T>C c.6357T>C (p.Leu2119=) c.6606T>C (p.Leu2202=) | |
Y | g.12846355T>G | CA519905895 | USP9Y | c.6591T>G (p.Leu2197=) n.6618T>G c.6357T>G (p.Leu2119=) c.6606T>G (p.Leu2202=) | |
Y | g.12846356C>A | CA415007366 | USP9Y | c.6592C>A (p.Leu2198Met) n.6619C>A c.6358C>A (p.Leu2120Met) c.6607C>A (p.Leu2203Met) | |
Y | g.12846356C>G | CA415007367 | USP9Y | c.6592C>G (p.Leu2198Val) n.6619C>G c.6358C>G (p.Leu2120Val) c.6607C>G (p.Leu2203Val) | |
Y | g.12846356C>T | CA519905896 | USP9Y | c.6592C>T (p.Leu2198=) n.6619C>T c.6358C>T (p.Leu2120=) c.6607C>T (p.Leu2203=) | |
Y | g.12846357T>A | CA415007369 | USP9Y | c.6593T>A (p.Leu2198Gln) n.6620T>A c.6359T>A (p.Leu2120Gln) c.6608T>A (p.Leu2203Gln) | |
Y | g.12846357T>C | CA415007371 | USP9Y | c.6593T>C (p.Leu2198Pro) n.6620T>C c.6359T>C (p.Leu2120Pro) c.6608T>C (p.Leu2203Pro) | |
Y | g.12846357T>G | CA415007372 | USP9Y | c.6593T>G (p.Leu2198Arg) n.6620T>G c.6359T>G (p.Leu2120Arg) c.6608T>G (p.Leu2203Arg) | |
Y | g.12846358G>A | CA519905897 | USP9Y | c.6594G>A (p.Leu2198=) n.6621G>A c.6360G>A (p.Leu2120=) c.6609G>A (p.Leu2203=) | dbSNP gnomAD v2 |
Y | g.12846358G>C | CA519905899 | USP9Y | c.6594G>C (p.Leu2198=) n.6621G>C c.6360G>C (p.Leu2120=) c.6609G>C (p.Leu2203=) | |
Y | g.12846358G= | CA2470561152 | USP9Y | c.6594G= (p.Leu2198=) n.6621G= c.6360G= (p.Leu2120=) c.6609G= (p.Leu2203=) | |
Y | g.12846358G>T | CA519905900 | USP9Y | c.6594G>T (p.Leu2198=) n.6621G>T c.6360G>T (p.Leu2120=) c.6609G>T (p.Leu2203=) | |
Y | g.12846359A>C | CA415007376 | USP9Y | c.6595A>C (p.Lys2199Gln) n.6622A>C c.6361A>C (p.Lys2121Gln) c.6610A>C (p.Lys2204Gln) | |
Y | g.12846359A>G | CA415007378 | USP9Y | c.6595A>G (p.Lys2199Glu) n.6622A>G c.6361A>G (p.Lys2121Glu) c.6610A>G (p.Lys2204Glu) | |
Y | g.12846359A>T | CA415007380 | USP9Y | c.6595A>T (p.Lys2199Ter) n.6622A>T c.6361A>T (p.Lys2121Ter) c.6610A>T (p.Lys2204Ter) | |
Y | g.12846360A>C | CA415007381 | USP9Y | c.6596A>C (p.Lys2199Thr) n.6623A>C c.6362A>C (p.Lys2121Thr) c.6611A>C (p.Lys2204Thr) | |
Y | g.12846360A>G | CA415007383 | USP9Y | c.6596A>G (p.Lys2199Arg) n.6623A>G c.6362A>G (p.Lys2121Arg) c.6611A>G (p.Lys2204Arg) | |
Y | g.12846360A>T | CA415007384 | USP9Y | c.6596A>T (p.Lys2199Ile) n.6623A>T c.6362A>T (p.Lys2121Ile) c.6611A>T (p.Lys2204Ile) | |
Y | g.12846361A>C | CA415007386 | USP9Y | c.6597A>C (p.Lys2199Asn) n.6624A>C c.6363A>C (p.Lys2121Asn) c.6612A>C (p.Lys2204Asn) | |
Y | g.12846361A>G | CA519905904 | USP9Y | c.6597A>G (p.Lys2199=) n.6624A>G c.6363A>G (p.Lys2121=) c.6612A>G (p.Lys2204=) | |
Y | g.12846361A>T | CA415007387 | USP9Y | c.6597A>T (p.Lys2199Asn) n.6624A>T c.6363A>T (p.Lys2121Asn) c.6612A>T (p.Lys2204Asn) | |
Y | g.12846362T>A | CA415007389 | USP9Y | c.6598T>A (p.Leu2200Met) n.6625T>A c.6364T>A (p.Leu2122Met) c.6613T>A (p.Leu2205Met) | |
Y | g.12846362T>C | CA519905905 | USP9Y | c.6598T>C (p.Leu2200=) n.6625T>C c.6364T>C (p.Leu2122=) c.6613T>C (p.Leu2205=) | dbSNP gnomAD v3 gnomAD v4 |
Y | g.12846362T>G | CA415007390 | USP9Y | c.6598T>G (p.Leu2200Val) n.6625T>G c.6364T>G (p.Leu2122Val) c.6613T>G (p.Leu2205Val) | |
Y | g.12846362T= | CA2470561153 | USP9Y | c.6598T= (p.Leu2200=) n.6625T= c.6364T= (p.Leu2122=) c.6613T= (p.Leu2205=) | |
Y | g.12846363T>A | CA415007391 | USP9Y | c.6599T>A (p.Leu2200Ter) n.6626T>A c.6365T>A (p.Leu2122Ter) c.6614T>A (p.Leu2205Ter) | |
Y | g.12846363T>C | CA415007393 | USP9Y | c.6599T>C (p.Leu2200Ser) n.6626T>C c.6365T>C (p.Leu2122Ser) c.6614T>C (p.Leu2205Ser) | |
Y | g.12846363T>G | CA415007392 | USP9Y | c.6599T>G (p.Leu2200Trp) n.6626T>G c.6365T>G (p.Leu2122Trp) c.6614T>G (p.Leu2205Trp) | |
Y | g.12846364G>A | CA519905907 | USP9Y | c.6600G>A (p.Leu2200=) n.6627G>A c.6366G>A (p.Leu2122=) c.6615G>A (p.Leu2205=) | |
Y | g.12846364G>C | CA415007394 | USP9Y | c.6600G>C (p.Leu2200Phe) n.6627G>C c.6366G>C (p.Leu2122Phe) c.6615G>C (p.Leu2205Phe) | |
Y | g.12846364G>T | CA415007396 | USP9Y | c.6600G>T (p.Leu2200Phe) n.6627G>T c.6366G>T (p.Leu2122Phe) c.6615G>T (p.Leu2205Phe) | |
Y | g.12846365A>C | CA415007398 | USP9Y | c.6601A>C (p.Asn2201His) n.6628A>C c.6367A>C (p.Asn2123His) c.6616A>C (p.Asn2206His) | |
Y | g.12846365A>G | CA415007399 | USP9Y | c.6601A>G (p.Asn2201Asp) n.6628A>G c.6367A>G (p.Asn2123Asp) c.6616A>G (p.Asn2206Asp) | |
Y | g.12846365A>T | CA415007402 | USP9Y | c.6601A>T (p.Asn2201Tyr) n.6628A>T c.6367A>T (p.Asn2123Tyr) c.6616A>T (p.Asn2206Tyr) | |
Y | g.12846366A>C | CA415007406 | USP9Y | c.6602A>C (p.Asn2201Thr) n.6629A>C c.6368A>C (p.Asn2123Thr) c.6617A>C (p.Asn2206Thr) | |
Y | g.12846366A>G | CA415007412 | USP9Y | c.6602A>G (p.Asn2201Ser) n.6629A>G c.6368A>G (p.Asn2123Ser) c.6617A>G (p.Asn2206Ser) | |
Y | g.12846366A>T | CA415007415 | USP9Y | c.6602A>T (p.Asn2201Ile) n.6629A>T c.6368A>T (p.Asn2123Ile) c.6617A>T (p.Asn2206Ile) | |
Y | g.12846367T>A | CA415007416 | USP9Y | c.6603T>A (p.Asn2201Lys) n.6630T>A c.6369T>A (p.Asn2123Lys) c.6618T>A (p.Asn2206Lys) | |
Y | g.12846367T>C | CA519905909 | USP9Y | c.6603T>C (p.Asn2201=) n.6630T>C c.6369T>C (p.Asn2123=) c.6618T>C (p.Asn2206=) | |
Y | g.12846367T>G | CA415007419 | USP9Y | c.6603T>G (p.Asn2201Lys) n.6630T>G c.6369T>G (p.Asn2123Lys) c.6618T>G (p.Asn2206Lys) | |
Y | g.12846368G>A | CA10573496 | USP9Y | c.6604G>A (p.Val2202Ile) n.6631G>A c.6370G>A (p.Val2124Ile) c.6619G>A (p.Val2207Ile) | dbSNP ExAC gnomAD v2 |
Y | g.12846368G>C | CA415007421 | USP9Y | c.6604G>C (p.Val2202Leu) n.6631G>C c.6370G>C (p.Val2124Leu) c.6619G>C (p.Val2207Leu) | |
Y | g.12846368G= | CA2470561154 | USP9Y | c.6604G= (p.Val2202=) n.6631G= c.6370G= (p.Val2124=) c.6619G= (p.Val2207=) | |
Y | g.12846368G>T | CA415007424 | USP9Y | c.6604G>T (p.Val2202Leu) n.6631G>T c.6370G>T (p.Val2124Leu) c.6619G>T (p.Val2207Leu) | |
Y | g.12846369T>A | CA415007434 | USP9Y | c.6605T>A (p.Val2202Glu) n.6632T>A c.6371T>A (p.Val2124Glu) c.6620T>A (p.Val2207Glu) | |
Y | g.12846369T>C | CA415007437 | USP9Y | c.6605T>C (p.Val2202Ala) n.6632T>C c.6371T>C (p.Val2124Ala) c.6620T>C (p.Val2207Ala) | |
Y | g.12846369T>G | CA415007439 | USP9Y | c.6605T>G (p.Val2202Gly) n.6632T>G c.6371T>G (p.Val2124Gly) c.6620T>G (p.Val2207Gly) | |
Y | g.12846370A>C | CA519905913 | USP9Y | c.6606A>C (p.Val2202=) n.6633A>C c.6372A>C (p.Val2124=) c.6621A>C (p.Val2207=) | |
Y | g.12846370A>G | CA519905912 | USP9Y | c.6606A>G (p.Val2202=) n.6633A>G c.6372A>G (p.Val2124=) c.6621A>G (p.Val2207=) | |
Y | g.12846370A>T | CA519905911 | USP9Y | c.6606A>T (p.Val2202=) n.6633A>T c.6372A>T (p.Val2124=) c.6621A>T (p.Val2207=) |