| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| Y | g.12833824T>A | CA414999168 | USP9Y | c.5158T>A (p.Phe1720Ile) n.5170T>A c.4924T>A (p.Phe1642Ile) c.5173T>A (p.Phe1725Ile) | |
| Y | g.12833824T>C | CA414999166 | USP9Y | c.5158T>C (p.Phe1720Leu) n.5170T>C c.4924T>C (p.Phe1642Leu) c.5173T>C (p.Phe1725Leu) | |
| Y | g.12833824T>G | CA414999169 | USP9Y | c.5158T>G (p.Phe1720Val) n.5170T>G c.4924T>G (p.Phe1642Val) c.5173T>G (p.Phe1725Val) | |
| Y | g.12833825T>A | CA414999170 | USP9Y | c.5159T>A (p.Phe1720Tyr) n.5171T>A c.4925T>A (p.Phe1642Tyr) c.5174T>A (p.Phe1725Tyr) | |
| Y | g.12833825T>C | CA414999174 | USP9Y | c.5159T>C (p.Phe1720Ser) n.5171T>C c.4925T>C (p.Phe1642Ser) c.5174T>C (p.Phe1725Ser) | |
| Y | g.12833825T>G | CA414999172 | USP9Y | c.5159T>G (p.Phe1720Cys) n.5171T>G c.4925T>G (p.Phe1642Cys) c.5174T>G (p.Phe1725Cys) | |
| Y | g.12833826T>A | CA414999176 | USP9Y | c.5160T>A (p.Phe1720Leu) n.5172T>A c.4926T>A (p.Phe1642Leu) c.5175T>A (p.Phe1725Leu) | |
| Y | g.12833826T>C | CA519901965 | USP9Y | c.5160T>C (p.Phe1720=) n.5172T>C c.4926T>C (p.Phe1642=) c.5175T>C (p.Phe1725=) | |
| Y | g.12833826T>G | CA414999177 | USP9Y | c.5160T>G (p.Phe1720Leu) n.5172T>G c.4926T>G (p.Phe1642Leu) c.5175T>G (p.Phe1725Leu) | |
| Y | g.12833827G>A | CA414999179 | USP9Y | c.5161G>A (p.Ala1721Thr) n.5173G>A c.4927G>A (p.Ala1643Thr) c.5176G>A (p.Ala1726Thr) | |
| Y | g.12833827G>C | CA414999181 | USP9Y | c.5161G>C (p.Ala1721Pro) n.5173G>C c.4927G>C (p.Ala1643Pro) c.5176G>C (p.Ala1726Pro) | |
| Y | g.12833827G>T | CA414999182 | USP9Y | c.5161G>T (p.Ala1721Ser) n.5173G>T c.4927G>T (p.Ala1643Ser) c.5176G>T (p.Ala1726Ser) | |
| Y | g.12833828C>A | CA414999184 | USP9Y | c.5162C>A (p.Ala1721Asp) n.5174C>A c.4928C>A (p.Ala1643Asp) c.5177C>A (p.Ala1726Asp) | |
| Y | g.12833828C>G | CA414999186 | USP9Y | c.5162C>G (p.Ala1721Gly) n.5174C>G c.4928C>G (p.Ala1643Gly) c.5177C>G (p.Ala1726Gly) | |
| Y | g.12833828C>T | CA414999188 | USP9Y | c.5162C>T (p.Ala1721Val) n.5174C>T c.4928C>T (p.Ala1643Val) c.5177C>T (p.Ala1726Val) | |
| Y | g.12833829T>A | CA519901974 | USP9Y | c.5163T>A (p.Ala1721=) n.5175T>A c.4929T>A (p.Ala1643=) c.5178T>A (p.Ala1726=) | |
| Y | g.12833829T>C | CA519901976 | USP9Y | c.5163T>C (p.Ala1721=) n.5175T>C c.4929T>C (p.Ala1643=) c.5178T>C (p.Ala1726=) | |
| Y | g.12833829T>G | CA519901978 | USP9Y | c.5163T>G (p.Ala1721=) n.5175T>G c.4929T>G (p.Ala1643=) c.5178T>G (p.Ala1726=) | |
| Y | g.12833830G>A | CA414999189 | USP9Y | c.5164G>A (p.Asp1722Asn) n.5176G>A c.4930G>A (p.Asp1644Asn) c.5179G>A (p.Asp1727Asn) | |
| Y | g.12833830G>C | CA414999191 | USP9Y | c.5164G>C (p.Asp1722His) n.5176G>C c.4930G>C (p.Asp1644His) c.5179G>C (p.Asp1727His) | |
| Y | g.12833830G>T | CA414999192 | USP9Y | c.5164G>T (p.Asp1722Tyr) n.5176G>T c.4930G>T (p.Asp1644Tyr) c.5179G>T (p.Asp1727Tyr) | |
| Y | g.12833831A>C | CA414999197 | USP9Y | c.5165A>C (p.Asp1722Ala) n.5177A>C c.4931A>C (p.Asp1644Ala) c.5180A>C (p.Asp1727Ala) | |
| Y | g.12833831A>G | CA414999194 | USP9Y | c.5165A>G (p.Asp1722Gly) n.5177A>G c.4931A>G (p.Asp1644Gly) c.5180A>G (p.Asp1727Gly) | |
| Y | g.12833831A>T | CA414999196 | USP9Y | c.5165A>T (p.Asp1722Val) n.5177A>T c.4931A>T (p.Asp1644Val) c.5180A>T (p.Asp1727Val) | |
| Y | g.12833832T>A | CA414999199 | USP9Y | c.5166T>A (p.Asp1722Glu) n.5178T>A c.4932T>A (p.Asp1644Glu) c.5181T>A (p.Asp1727Glu) | |
| Y | g.12833832T>C | CA519901988 | USP9Y | c.5166T>C (p.Asp1722=) n.5178T>C c.4932T>C (p.Asp1644=) c.5181T>C (p.Asp1727=) | |
| Y | g.12833832T>G | CA414999201 | USP9Y | c.5166T>G (p.Asp1722Glu) n.5178T>G c.4932T>G (p.Asp1644Glu) c.5181T>G (p.Asp1727Glu) | |
| Y | g.12833833C>A | CA414999202 | USP9Y | c.5167C>A (p.Gln1723Lys) n.5179C>A c.4933C>A (p.Gln1645Lys) c.5182C>A (p.Gln1728Lys) | |
| Y | g.12833833C>G | CA414999203 | USP9Y | c.5167C>G (p.Gln1723Glu) n.5179C>G c.4933C>G (p.Gln1645Glu) c.5182C>G (p.Gln1728Glu) | |
| Y | g.12833833C>T | CA414999205 | USP9Y | c.5167C>T (p.Gln1723Ter) n.5179C>T c.4933C>T (p.Gln1645Ter) c.5182C>T (p.Gln1728Ter) | |
| Y | g.12833834A>C | CA414999207 | USP9Y | c.5168A>C (p.Gln1723Pro) n.5180A>C c.4934A>C (p.Gln1645Pro) c.5183A>C (p.Gln1728Pro) | |
| Y | g.12833834A>G | CA414999209 | USP9Y | c.5168A>G (p.Gln1723Arg) n.5180A>G c.4934A>G (p.Gln1645Arg) c.5183A>G (p.Gln1728Arg) | |
| Y | g.12833834A>T | CA414999210 | USP9Y | c.5168A>T (p.Gln1723Leu) n.5180A>T c.4934A>T (p.Gln1645Leu) c.5183A>T (p.Gln1728Leu) | |
| Y | g.12833835G>A | CA519901996 | USP9Y | c.5169G>A (p.Gln1723=) n.5181G>A c.4935G>A (p.Gln1645=) c.5184G>A (p.Gln1728=) | gnomAD v3 gnomAD v4 |
| Y | g.12833835G>C | CA414999212 | USP9Y | c.5169G>C (p.Gln1723His) n.5181G>C c.4935G>C (p.Gln1645His) c.5184G>C (p.Gln1728His) | |
| Y | g.12833835G>T | CA414999214 | USP9Y | c.5169G>T (p.Gln1723His) n.5181G>T c.4935G>T (p.Gln1645His) c.5184G>T (p.Gln1728His) | |
| Y | g.12833836A>C | CA414999219 | USP9Y | c.5170A>C (p.Lys1724Gln) n.5182A>C c.4936A>C (p.Lys1646Gln) c.5185A>C (p.Lys1729Gln) | |
| Y | g.12833836A>G | CA414999217 | USP9Y | c.5170A>G (p.Lys1724Glu) n.5182A>G c.4936A>G (p.Lys1646Glu) c.5185A>G (p.Lys1729Glu) | |
| Y | g.12833836A>T | CA414999216 | USP9Y | c.5170A>T (p.Lys1724Ter) n.5182A>T c.4936A>T (p.Lys1646Ter) c.5185A>T (p.Lys1729Ter) | |
| Y | g.12833837A>C | CA414999220 | USP9Y | c.5171A>C (p.Lys1724Thr) n.5183A>C c.4937A>C (p.Lys1646Thr) c.5186A>C (p.Lys1729Thr) | |
| Y | g.12833837A>G | CA414999222 | USP9Y | c.5171A>G (p.Lys1724Arg) n.5183A>G c.4937A>G (p.Lys1646Arg) c.5186A>G (p.Lys1729Arg) | |
| Y | g.12833837A>T | CA414999224 | USP9Y | c.5171A>T (p.Lys1724Met) n.5183A>T c.4937A>T (p.Lys1646Met) c.5186A>T (p.Lys1729Met) | |
| Y | g.12833838G>A | CA519902006 | USP9Y | c.5172G>A (p.Lys1724=) n.5184G>A c.4938G>A (p.Lys1646=) c.5187G>A (p.Lys1729=) | |
| Y | g.12833838G>C | CA414999226 | USP9Y | c.5172G>C (p.Lys1724Asn) n.5184G>C c.4938G>C (p.Lys1646Asn) c.5187G>C (p.Lys1729Asn) | |
| Y | g.12833838G>T | CA414999227 | USP9Y | c.5172G>T (p.Lys1724Asn) n.5184G>T c.4938G>T (p.Lys1646Asn) c.5187G>T (p.Lys1729Asn) | |
| Y | g.12833839A>C | CA414999230 | USP9Y | c.5173A>C (p.Ile1725Leu) n.5185A>C c.4939A>C (p.Ile1647Leu) c.5188A>C (p.Ile1730Leu) | |
| Y | g.12833839A>G | CA414999231 | USP9Y | c.5173A>G (p.Ile1725Val) n.5185A>G c.4939A>G (p.Ile1647Val) c.5188A>G (p.Ile1730Val) | |
| Y | g.12833839A>T | CA414999233 | USP9Y | c.5173A>T (p.Ile1725Phe) n.5185A>T c.4939A>T (p.Ile1647Phe) c.5188A>T (p.Ile1730Phe) | |
| Y | g.12833840T>A | CA414999234 | USP9Y | c.5174T>A (p.Ile1725Asn) n.5186T>A c.4940T>A (p.Ile1647Asn) c.5189T>A (p.Ile1730Asn) | |
| Y | g.12833840T>C | CA414999235 | USP9Y | c.5174T>C (p.Ile1725Thr) n.5186T>C c.4940T>C (p.Ile1647Thr) c.5189T>C (p.Ile1730Thr) | |
| Y | g.12833840T>G | CA414999237 | USP9Y | c.5174T>G (p.Ile1725Ser) n.5186T>G c.4940T>G (p.Ile1647Ser) c.5189T>G (p.Ile1730Ser) | |
| Y | g.12833841C>A | CA519902021 | USP9Y | c.5175C>A (p.Ile1725=) n.5187C>A c.4941C>A (p.Ile1647=) c.5190C>A (p.Ile1730=) | |
| Y | g.12833841C>G | CA414999239 | USP9Y | c.5175C>G (p.Ile1725Met) n.5187C>G c.4941C>G (p.Ile1647Met) c.5190C>G (p.Ile1730Met) | |
| Y | g.12833841C>T | CA519902019 | USP9Y | c.5175C>T (p.Ile1725=) n.5187C>T c.4941C>T (p.Ile1647=) c.5190C>T (p.Ile1730=) | |
| Y | g.12833842T>A | CA414999243 | USP9Y | c.5176T>A (p.Cys1726Ser) n.5188T>A c.4942T>A (p.Cys1648Ser) c.5191T>A (p.Cys1731Ser) | |
| Y | g.12833842T>C | CA414999240 | USP9Y | c.5176T>C (p.Cys1726Arg) n.5188T>C c.4942T>C (p.Cys1648Arg) c.5191T>C (p.Cys1731Arg) | |
| Y | g.12833842T>G | CA414999242 | USP9Y | c.5176T>G (p.Cys1726Gly) n.5188T>G c.4942T>G (p.Cys1648Gly) c.5191T>G (p.Cys1731Gly) | |
| Y | g.12833843G>A | CA414999244 | USP9Y | c.5177G>A (p.Cys1726Tyr) n.5189G>A c.4943G>A (p.Cys1648Tyr) c.5192G>A (p.Cys1731Tyr) | |
| Y | g.12833843G>C | CA414999245 | USP9Y | c.5177G>C (p.Cys1726Ser) n.5189G>C c.4943G>C (p.Cys1648Ser) c.5192G>C (p.Cys1731Ser) | |
| Y | g.12833843G>T | CA414999246 | USP9Y | c.5177G>T (p.Cys1726Phe) n.5189G>T c.4943G>T (p.Cys1648Phe) c.5192G>T (p.Cys1731Phe) | |
| Y | g.12833844C>A | CA414999247 | USP9Y | c.5178C>A (p.Cys1726Ter) n.5190C>A c.4944C>A (p.Cys1648Ter) c.5193C>A (p.Cys1731Ter) | |
| Y | g.12833844C>G | CA414999248 | USP9Y | c.5178C>G (p.Cys1726Trp) n.5190C>G c.4944C>G (p.Cys1648Trp) c.5193C>G (p.Cys1731Trp) | |
| Y | g.12833844C>T | CA519902031 | USP9Y | c.5178C>T (p.Cys1726=) n.5190C>T c.4944C>T (p.Cys1648=) c.5193C>T (p.Cys1731=) | |
| Y | g.12833845C>A | CA414999249 | USP9Y | c.5179C>A (p.Gln1727Lys) n.5191C>A c.4945C>A (p.Gln1649Lys) c.5194C>A (p.Gln1732Lys) | |
| Y | g.12833845C>G | CA414999250 | USP9Y | c.5179C>G (p.Gln1727Glu) n.5191C>G c.4945C>G (p.Gln1649Glu) c.5194C>G (p.Gln1732Glu) | |
| Y | g.12833845C>T | CA414999251 | USP9Y | c.5179C>T (p.Gln1727Ter) n.5191C>T c.4945C>T (p.Gln1649Ter) c.5194C>T (p.Gln1732Ter) | |
| Y | g.12833846A>C | CA414999252 | USP9Y | c.5180A>C (p.Gln1727Pro) n.5192A>C c.4946A>C (p.Gln1649Pro) c.5195A>C (p.Gln1732Pro) | |
| Y | g.12833846A>G | CA414999253 | USP9Y | c.5180A>G (p.Gln1727Arg) n.5192A>G c.4946A>G (p.Gln1649Arg) c.5195A>G (p.Gln1732Arg) | |
| Y | g.12833846A>T | CA414999254 | USP9Y | c.5180A>T (p.Gln1727Leu) n.5192A>T c.4946A>T (p.Gln1649Leu) c.5195A>T (p.Gln1732Leu) | |
| Y | g.12833847A>C | CA414999255 | USP9Y | c.5181A>C (p.Gln1727His) n.5193A>C c.4947A>C (p.Gln1649His) c.5196A>C (p.Gln1732His) | |
| Y | g.12833847A>G | CA519902041 | USP9Y | c.5181A>G (p.Gln1727=) n.5193A>G c.4947A>G (p.Gln1649=) c.5196A>G (p.Gln1732=) | |
| Y | g.12833847A>T | CA414999256 | USP9Y | c.5181A>T (p.Gln1727His) n.5193A>T c.4947A>T (p.Gln1649His) c.5196A>T (p.Gln1732His) | |
| Y | g.12833848G>A | CA414999257 | USP9Y | c.5182G>A (p.Gly1728Ser) n.5194G>A c.4948G>A (p.Gly1650Ser) c.5197G>A (p.Gly1733Ser) | |
| Y | g.12833848G>C | CA414999259 | USP9Y | c.5182G>C (p.Gly1728Arg) n.5194G>C c.4948G>C (p.Gly1650Arg) c.5197G>C (p.Gly1733Arg) | |
| Y | g.12833848G>T | CA414999258 | USP9Y | c.5182G>T (p.Gly1728Cys) n.5194G>T c.4948G>T (p.Gly1650Cys) c.5197G>T (p.Gly1733Cys) | |
| Y | g.12833849del | CA2579748044 | USP9Y | c.5183del (p.Gly1728AlafsTer15) n.5195del c.4949del (p.Gly1650AlafsTer15) c.5198del (p.Gly1733AlafsTer15) | |
| Y | g.12833849G>A | CA414999260 | USP9Y | c.5183G>A (p.Gly1728Asp) n.5195G>A c.4949G>A (p.Gly1650Asp) c.5198G>A (p.Gly1733Asp) | |
| Y | g.12833849G>C | CA414999261 | USP9Y | c.5183G>C (p.Gly1728Ala) n.5195G>C c.4949G>C (p.Gly1650Ala) c.5198G>C (p.Gly1733Ala) | |
| Y | g.12833849G>T | CA414999262 | USP9Y | c.5183G>T (p.Gly1728Val) n.5195G>T c.4949G>T (p.Gly1650Val) c.5198G>T (p.Gly1733Val) | |
| Y | g.12833850C>A | CA519902053 | USP9Y | c.5184C>A (p.Gly1728=) n.5196C>A c.4950C>A (p.Gly1650=) c.5199C>A (p.Gly1733=) | |
| Y | g.12833850C>G | CA519902055 | USP9Y | c.5184C>G (p.Gly1728=) n.5196C>G c.4950C>G (p.Gly1650=) c.5199C>G (p.Gly1733=) | |
| Y | g.12833850C>T | CA519902056 | USP9Y | c.5184C>T (p.Gly1728=) n.5196C>T c.4950C>T (p.Gly1650=) c.5199C>T (p.Gly1733=) | |
| Y | g.12833851T>A | CA414999263 | USP9Y | c.5185T>A (p.Cys1729Ser) n.5197T>A c.4951T>A (p.Cys1651Ser) c.5200T>A (p.Cys1734Ser) | |
| Y | g.12833851T>C | CA414999264 | USP9Y | c.5185T>C (p.Cys1729Arg) n.5197T>C c.4951T>C (p.Cys1651Arg) c.5200T>C (p.Cys1734Arg) | |
| Y | g.12833851T>G | CA414999265 | USP9Y | c.5185T>G (p.Cys1729Gly) n.5197T>G c.4951T>G (p.Cys1651Gly) c.5200T>G (p.Cys1734Gly) | |
| Y | g.12833852G>A | CA414999266 | USP9Y | c.5186G>A (p.Cys1729Tyr) n.5198G>A c.4952G>A (p.Cys1651Tyr) c.5201G>A (p.Cys1734Tyr) | |
| Y | g.12833852G>C | CA414999267 | USP9Y | c.5186G>C (p.Cys1729Ser) n.5198G>C c.4952G>C (p.Cys1651Ser) c.5201G>C (p.Cys1734Ser) | |
| Y | g.12833852G>T | CA414999268 | USP9Y | c.5186G>T (p.Cys1729Phe) n.5198G>T c.4952G>T (p.Cys1651Phe) c.5201G>T (p.Cys1734Phe) | |
| Y | g.12833853C>A | CA414999269 | USP9Y | c.5187C>A (p.Cys1729Ter) n.5199C>A c.4953C>A (p.Cys1651Ter) c.5202C>A (p.Cys1734Ter) | |
| Y | g.12833853C>G | CA414999270 | USP9Y | c.5187C>G (p.Cys1729Trp) n.5199C>G c.4953C>G (p.Cys1651Trp) c.5202C>G (p.Cys1734Trp) | |
| Y | g.12833853C>T | CA519902067 | USP9Y | c.5187C>T (p.Cys1729=) n.5199C>T c.4953C>T (p.Cys1651=) c.5202C>T (p.Cys1734=) | |
| Y | g.12833855del | CA2824886979 | USP9Y | c.5189del (p.Pro1730HisfsTer13) n.5201del c.4955del (p.Pro1652HisfsTer13) c.5204del (p.Pro1735HisfsTer13) | |
| Y | g.12833854C>A | CA414999273 | USP9Y | c.5188C>A (p.Pro1730Thr) n.5200C>A c.4954C>A (p.Pro1652Thr) c.5203C>A (p.Pro1735Thr) | |
| Y | g.12833854C>G | CA414999271 | USP9Y | c.5188C>G (p.Pro1730Ala) n.5200C>G c.4954C>G (p.Pro1652Ala) c.5203C>G (p.Pro1735Ala) | |
| Y | g.12833854C>T | CA414999272 | USP9Y | c.5188C>T (p.Pro1730Ser) n.5200C>T c.4954C>T (p.Pro1652Ser) c.5203C>T (p.Pro1735Ser) | gnomAD v3 gnomAD v4 |
| Y | g.12833855C>A | CA414999274 | USP9Y | c.5189C>A (p.Pro1730Gln) n.5201C>A c.4955C>A (p.Pro1652Gln) c.5204C>A (p.Pro1735Gln) | |
| Y | g.12833855C>G | CA414999275 | USP9Y | c.5189C>G (p.Pro1730Arg) n.5201C>G c.4955C>G (p.Pro1652Arg) c.5204C>G (p.Pro1735Arg) | |
| Y | g.12833855C>T | CA414999276 | USP9Y | c.5189C>T (p.Pro1730Leu) n.5201C>T c.4955C>T (p.Pro1652Leu) c.5204C>T (p.Pro1735Leu) | |
| Y | g.12833856A>C | CA519902075 | USP9Y | c.5190A>C (p.Pro1730=) n.5202A>C c.4956A>C (p.Pro1652=) c.5205A>C (p.Pro1735=) | |
| Y | g.12833856A>G | CA519902076 | USP9Y | c.5190A>G (p.Pro1730=) n.5202A>G c.4956A>G (p.Pro1652=) c.5205A>G (p.Pro1735=) | |
| Y | g.12833856A>T | CA519902079 | USP9Y | c.5190A>T (p.Pro1730=) n.5202A>T c.4956A>T (p.Pro1652=) c.5205A>T (p.Pro1735=) | |
| Y | g.12833857C>A | CA414999277 | USP9Y | c.5191C>A (p.His1731Asn) n.5203C>A c.4957C>A (p.His1653Asn) c.5206C>A (p.His1736Asn) | |
| Y | g.12833857C>G | CA414999278 | USP9Y | c.5191C>G (p.His1731Asp) n.5203C>G c.4957C>G (p.His1653Asp) c.5206C>G (p.His1736Asp) | |
| Y | g.12833857C>T | CA414999279 | USP9Y | c.5191C>T (p.His1731Tyr) n.5203C>T c.4957C>T (p.His1653Tyr) c.5206C>T (p.His1736Tyr) | |
| Y | g.12833858A>C | CA414999280 | USP9Y | c.5192A>C (p.His1731Pro) n.5204A>C c.4958A>C (p.His1653Pro) c.5207A>C (p.His1736Pro) | |
| Y | g.12833858A>G | CA414999281 | USP9Y | c.5192A>G (p.His1731Arg) n.5204A>G c.4958A>G (p.His1653Arg) c.5207A>G (p.His1736Arg) | |
| Y | g.12833858A>T | CA414999282 | USP9Y | c.5192A>T (p.His1731Leu) n.5204A>T c.4958A>T (p.His1653Leu) c.5207A>T (p.His1736Leu) | |
| Y | g.12833859T>A | CA414999283 | USP9Y | c.5193T>A (p.His1731Gln) n.5205T>A c.4959T>A (p.His1653Gln) c.5208T>A (p.His1736Gln) | |
| Y | g.12833859T>C | CA519902088 | USP9Y | c.5193T>C (p.His1731=) n.5205T>C c.4959T>C (p.His1653=) c.5208T>C (p.His1736=) | |
| Y | g.12833859T>G | CA414999284 | USP9Y | c.5193T>G (p.His1731Gln) n.5205T>G c.4959T>G (p.His1653Gln) c.5208T>G (p.His1736Gln) | |
| Y | g.12833860A>C | CA519902092 | USP9Y | c.5194A>C (p.Arg1732=) n.5206A>C c.4960A>C (p.Arg1654=) c.5209A>C (p.Arg1737=) | |
| Y | g.12833860A>G | CA414999285 | USP9Y | c.5194A>G (p.Arg1732Gly) n.5206A>G c.4960A>G (p.Arg1654Gly) c.5209A>G (p.Arg1737Gly) | |
| Y | g.12833860A>T | CA414999286 | USP9Y | c.5194A>T (p.Arg1732Trp) n.5206A>T c.4960A>T (p.Arg1654Trp) c.5209A>T (p.Arg1737Trp) | |
| Y | g.12833861G>A | CA414999287 | USP9Y | c.5195G>A (p.Arg1732Lys) n.5207G>A c.4961G>A (p.Arg1654Lys) c.5210G>A (p.Arg1737Lys) | |
| Y | g.12833861G>C | CA414999288 | USP9Y | c.5195G>C (p.Arg1732Thr) n.5207G>C c.4961G>C (p.Arg1654Thr) c.5210G>C (p.Arg1737Thr) | |
| Y | g.12833861G>T | CA414999289 | USP9Y | c.5195G>T (p.Arg1732Met) n.5207G>T c.4961G>T (p.Arg1654Met) c.5210G>T (p.Arg1737Met) | |
| Y | g.12833862G>A | CA414999290 | USP9Y | c.5195+1G>A (n.5195+1G>A) n.5207+1G>A c.4961+1G>A (n.4961+1G>A) c.5210+1G>A (n.5210+1G>A) | |
| Y | g.12833862G>C | CA414999291 | USP9Y | c.5195+1G>C (n.5195+1G>C) n.5207+1G>C c.4961+1G>C (n.4961+1G>C) c.5210+1G>C (n.5210+1G>C) | |
| Y | g.12833862G>T | CA414999292 | USP9Y | c.5195+1G>T (n.5195+1G>T) n.5207+1G>T c.4961+1G>T (n.4961+1G>T) c.5210+1G>T (n.5210+1G>T) | |
| Y | g.12833863T>A | CA414999293 | USP9Y | c.5195+2T>A (n.5195+2T>A) n.5207+2T>A c.4961+2T>A (n.4961+2T>A) c.5210+2T>A (n.5210+2T>A) | |
| Y | g.12833863T>C | CA414999294 | USP9Y | c.5195+2T>C (n.5195+2T>C) n.5207+2T>C c.4961+2T>C (n.4961+2T>C) c.5210+2T>C (n.5210+2T>C) | |
| Y | g.12833863T>G | CA414999295 | USP9Y | c.5195+2T>G (n.5195+2T>G) n.5207+2T>G c.4961+2T>G (n.4961+2T>G) c.5210+2T>G (n.5210+2T>G) | |
| Y | g.12833864A>G | CA2695197206 | USP9Y | c.5195+3A>G (n.5195+3A>G) n.5207+3A>G c.4961+3A>G (n.4961+3A>G) c.5210+3A>G (n.5210+3A>G) | ClinVar |
| Y | g.12833865_12833869delinsAGTGC | CA2470560459 | USP9Y | c.5195+4_5195+8delinsAGTGC (n.5195+4_5195+8delinsAGTGC) n.5207+4_5207+8delinsAGTGC c.4961+4_4961+8delinsAGTGC (n.4961+4_4961+8delinsAGTGC) c.5210+4_5210+8delinsAGTGC (n.5210+4_5210+8delinsAGTGC) | |
| Y | g.12833866_12833869del | CA645286620 | USP9Y | c.5195+5_5195+8del (n.5195+5_5195+8del) n.5207+5_5207+8del c.4961+5_4961+8del (n.4961+5_4961+8del) c.5210+5_5210+8del (n.5210+5_5210+8del) | dbSNP gnomAD v2 |
| Y | g.12833867T>C | CA1139272096 | USP9Y | c.5195+6T>C (n.5195+6T>C) n.5207+6T>C c.4961+6T>C (n.4961+6T>C) c.5210+6T>C (n.5210+6T>C) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.12833867T= | CA2470560460 | USP9Y | c.5195+6T= (n.5195+6T=) n.5207+6T= c.4961+6T= (n.4961+6T=) c.5210+6T= (n.5210+6T=) | |
| Y | g.12833877G>A | CA2766242007 | USP9Y | c.5195+16G>A (n.5195+16G>A) n.5207+16G>A c.4961+16G>A (n.4961+16G>A) c.5210+16G>A (n.5210+16G>A) | |
| Y | g.12833879T>C | CA2766242008 | USP9Y | c.5195+18T>C (n.5195+18T>C) n.5207+18T>C c.4961+18T>C (n.4961+18T>C) c.5210+18T>C (n.5210+18T>C) | |
| Y | g.12833885T>C | CA2766242009 | USP9Y | c.5195+24T>C (n.5195+24T>C) n.5207+24T>C c.4961+24T>C (n.4961+24T>C) c.5210+24T>C (n.5210+24T>C) | |
| Y | g.12833886G>A | CA2766242010 | USP9Y | c.5195+25G>A (n.5195+25G>A) n.5207+25G>A c.4961+25G>A (n.4961+25G>A) c.5210+25G>A (n.5210+25G>A) | |
| Y | g.12833889T>C | CA2766242011 | USP9Y | c.5195+28T>C (n.5195+28T>C) n.5207+28T>C c.4961+28T>C (n.4961+28T>C) c.5210+28T>C (n.5210+28T>C) | |
| Y | g.12833890A>T | CA2766242012 | USP9Y | c.5195+29A>T (n.5195+29A>T) n.5207+29A>T c.4961+29A>T (n.4961+29A>T) c.5210+29A>T (n.5210+29A>T) | |
| Y | g.12833891C>A | CA2540701409 | USP9Y | c.5195+30C>A (n.5195+30C>A) n.5207+30C>A c.4961+30C>A (n.4961+30C>A) c.5210+30C>A (n.5210+30C>A) | |
| Y | g.12833891C>T | CA2766242013 | USP9Y | c.5195+30C>T (n.5195+30C>T) n.5207+30C>T c.4961+30C>T (n.4961+30C>T) c.5210+30C>T (n.5210+30C>T) | |
| Y | g.12833894C= | CA2470560461 | USP9Y | c.5195+33C= (n.5195+33C=) n.5207+33C= c.4961+33C= (n.4961+33C=) c.5210+33C= (n.5210+33C=) | |
| Y | g.12833894C>T | CA10573385 | USP9Y | c.5195+33C>T (n.5195+33C>T) n.5207+33C>T c.4961+33C>T (n.4961+33C>T) c.5210+33C>T (n.5210+33C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.12833895G>A | CA10573386 | USP9Y | c.5195+34G>A (n.5195+34G>A) n.5207+34G>A c.4961+34G>A (n.4961+34G>A) c.5210+34G>A (n.5210+34G>A) | dbSNP ExAC gnomAD v2 |
| Y | g.12833895G>C | CA1139769328 | USP9Y | c.5195+34G>C (n.5195+34G>C) n.5207+34G>C c.4961+34G>C (n.4961+34G>C) c.5210+34G>C (n.5210+34G>C) | |
| Y | g.12833895G= | CA2470560462 | USP9Y | c.5195+34G= (n.5195+34G=) n.5207+34G= c.4961+34G= (n.4961+34G=) c.5210+34G= (n.5210+34G=) | |
| Y | g.12833896T>A | CA2579748045 | USP9Y | c.5195+35T>A (n.5195+35T>A) n.5207+35T>A c.4961+35T>A (n.4961+35T>A) c.5210+35T>A (n.5210+35T>A) | |
| Y | g.12833896T>G | CA2739259813 | USP9Y | c.5195+35T>G (n.5195+35T>G) n.5207+35T>G c.4961+35T>G (n.4961+35T>G) c.5210+35T>G (n.5210+35T>G) | dbSNP |
| Y | g.12833900_12833903del | CA2579748046 | USP9Y | c.5195+39_5195+42del (n.5195+39_5195+42del) n.5207+39_5207+42del c.4961+39_4961+42del (n.4961+39_4961+42del) c.5210+39_5210+42del (n.5210+39_5210+42del) | |
| Y | g.12833899_12833900delinsTG | CA2470560463 | USP9Y | c.5195+38_5195+39delinsTG (n.5195+38_5195+39delinsTG) n.5207+38_5207+39delinsTG c.4961+38_4961+39delinsTG (n.4961+38_4961+39delinsTG) c.5210+38_5210+39delinsTG (n.5210+38_5210+39delinsTG) | |
| Y | g.12833900del | CA10573387 | USP9Y | c.5195+39del (n.5195+39del) n.5207+39del c.4961+39del (n.4961+39del) c.5210+39del (n.5210+39del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.12833900G= | CA2470560465 | USP9Y | c.5195+39G= (n.5195+39G=) n.5207+39G= c.4961+39G= (n.4961+39G=) c.5210+39G= (n.5210+39G=) | |
| Y | g.12833900G>T | CA10573390 | USP9Y | c.5195+39G>T (n.5195+39G>T) n.5207+39G>T c.4961+39G>T (n.4961+39G>T) c.5210+39G>T (n.5210+39G>T) | dbSNP ExAC |
| Y | g.12833900_12833901delinsGT | CA2470560464 | USP9Y | c.5195+39_5195+40delinsGT (n.5195+39_5195+40delinsGT) n.5207+39_5207+40delinsGT c.4961+39_4961+40delinsGT (n.4961+39_4961+40delinsGT) c.5210+39_5210+40delinsGT (n.5210+39_5210+40delinsGT) | |
| Y | g.12833901T>C | CA2766242014 | USP9Y | c.5195+40T>C (n.5195+40T>C) n.5207+40T>C c.4961+40T>C (n.4961+40T>C) c.5210+40T>C (n.5210+40T>C) | |
| Y | g.12833901T>G | CA2766242015 | USP9Y | c.5195+40T>G (n.5195+40T>G) n.5207+40T>G c.4961+40T>G (n.4961+40T>G) c.5210+40T>G (n.5210+40T>G) | |
| Y | g.12833910dup | CA10573389 | USP9Y | c.5195+49dup (n.5195+49dup) n.5207+49dup c.4961+49dup (n.4961+49dup) c.5210+49dup (n.5210+49dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.12833909_12833910dup | CA2824886980 | USP9Y | c.5195+48_5195+49dup (n.5195+48_5195+49dup) n.5207+48_5207+49dup c.4961+48_4961+49dup (n.4961+48_4961+49dup) c.5210+48_5210+49dup (n.5210+48_5210+49dup) | |
| Y | g.12833908_12833910dup | CA2516892199 | USP9Y | c.5195+47_5195+49dup (n.5195+47_5195+49dup) n.5207+47_5207+49dup c.4961+47_4961+49dup (n.4961+47_4961+49dup) c.5210+47_5210+49dup (n.5210+47_5210+49dup) | |
| Y | g.12833910del | CA10573388 | USP9Y | c.5195+49del (n.5195+49del) n.5207+49del c.4961+49del (n.4961+49del) c.5210+49del (n.5210+49del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.12833909_12833910del | CA2539008079 | USP9Y | c.5195+48_5195+49del (n.5195+48_5195+49del) n.5207+48_5207+49del c.4961+48_4961+49del (n.4961+48_4961+49del) c.5210+48_5210+49del (n.5210+48_5210+49del) | |
| Y | g.12833903T>G | CA2579748047 | USP9Y | c.5195+42T>G (n.5195+42T>G) n.5207+42T>G c.4961+42T>G (n.4961+42T>G) c.5210+42T>G (n.5210+42T>G) | |
| Y | g.12833910T>A | CA10573391 | USP9Y | c.5195+49T>A (n.5195+49T>A) n.5207+49T>A c.4961+49T>A (n.4961+49T>A) c.5210+49T>A (n.5210+49T>A) | dbSNP ExAC gnomAD v2 |
| Y | g.12833910T= | CA2470560466 | USP9Y | c.5195+49T= (n.5195+49T=) n.5207+49T= c.4961+49T= (n.4961+49T=) c.5210+49T= (n.5210+49T=) | |
| Y | g.12833918G>A | CA1139272103 | USP9Y | c.5195+57G>A (n.5195+57G>A) n.5207+57G>A c.4961+57G>A (n.4961+57G>A) c.5210+57G>A (n.5210+57G>A) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.12833918G= | CA2470560467 | USP9Y | c.5195+57G= (n.5195+57G=) n.5207+57G= c.4961+57G= (n.4961+57G=) c.5210+57G= (n.5210+57G=) | |
| Y | g.12833920G>A | CA2766242016 | USP9Y | c.5195+59G>A (n.5195+59G>A) n.5207+59G>A c.4961+59G>A (n.4961+59G>A) c.5210+59G>A (n.5210+59G>A) | |
| Y | g.12833921T>A | CA2579748048 | USP9Y | c.5195+60T>A (n.5195+60T>A) n.5207+60T>A c.4961+60T>A (n.4961+60T>A) c.5210+60T>A (n.5210+60T>A) | |
| Y | g.12833921T>C | CA2766242017 | USP9Y | c.5195+60T>C (n.5195+60T>C) n.5207+60T>C c.4961+60T>C (n.4961+60T>C) c.5210+60T>C (n.5210+60T>C) | |
| Y | g.12833922A>G | CA2766242018 | USP9Y | c.5195+61A>G (n.5195+61A>G) n.5207+61A>G c.4961+61A>G (n.4961+61A>G) c.5210+61A>G (n.5210+61A>G) | |
| Y | g.12833923A>C | CA1139272106 | USP9Y | c.5195+62A>C (n.5195+62A>C) n.5207+62A>C c.4961+62A>C (n.4961+62A>C) c.5210+62A>C (n.5210+62A>C) | gnomAD v3 gnomAD v4 |
| Y | g.12833924A>G | CA1139769329 | USP9Y | c.5195+63A>G (n.5195+63A>G) n.5207+63A>G c.4961+63A>G (n.4961+63A>G) c.5210+63A>G (n.5210+63A>G) |