Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.38351100C>A | CA489922942 | SPRED1 | c.771C>A (p.Arg257=) c.807C>A (p.Arg269=) c.549C>A (p.Arg183=) c.708C>A (p.Arg236=) | |
15 | g.38351100C>G | CA489922941 | SPRED1 | c.771C>G (p.Arg257=) c.807C>G (p.Arg269=) c.549C>G (p.Arg183=) c.708C>G (p.Arg236=) | |
15 | g.38351100C>T | CA489922940 | SPRED1 | c.771C>T (p.Arg257=) c.807C>T (p.Arg269=) c.549C>T (p.Arg183=) c.708C>T (p.Arg236=) | |
15 | g.38351101T>A | CA391933203 | SPRED1 | c.772T>A (p.Tyr258Asn) c.808T>A (p.Tyr270Asn) c.550T>A (p.Tyr184Asn) c.709T>A (p.Tyr237Asn) | |
15 | g.38351101T>C | CA391933204 | SPRED1 | c.772T>C (p.Tyr258His) c.808T>C (p.Tyr270His) c.550T>C (p.Tyr184His) c.709T>C (p.Tyr237His) | |
15 | g.38351101T>G | CA391933205 | SPRED1 | c.772T>G (p.Tyr258Asp) c.808T>G (p.Tyr270Asp) c.550T>G (p.Tyr184Asp) c.709T>G (p.Tyr237Asp) | |
15 | g.38351102A>C | CA391933207 | SPRED1 | c.773A>C (p.Tyr258Ser) c.809A>C (p.Tyr270Ser) c.551A>C (p.Tyr184Ser) c.710A>C (p.Tyr237Ser) | |
15 | g.38351102A>G | CA391933208 | SPRED1 | c.773A>G (p.Tyr258Cys) c.809A>G (p.Tyr270Cys) c.551A>G (p.Tyr184Cys) c.710A>G (p.Tyr237Cys) | ClinVar dbSNP |
15 | g.38351102A>T | CA391933206 | SPRED1 | c.773A>T (p.Tyr258Phe) c.809A>T (p.Tyr270Phe) c.551A>T (p.Tyr184Phe) c.710A>T (p.Tyr237Phe) | |
15 | g.38351103T>A | CA391933210 | SPRED1 | c.774T>A (p.Tyr258Ter) c.810T>A (p.Tyr270Ter) c.552T>A (p.Tyr184Ter) c.711T>A (p.Tyr237Ter) | |
15 | g.38351103T>C | CA489922943 | SPRED1 | c.774T>C (p.Tyr258=) c.810T>C (p.Tyr270=) c.552T>C (p.Tyr184=) c.711T>C (p.Tyr237=) | |
15 | g.38351103T>G | CA391933209 | SPRED1 | c.774T>G (p.Tyr258Ter) c.810T>G (p.Tyr270Ter) c.552T>G (p.Tyr184Ter) c.711T>G (p.Tyr237Ter) | ClinVar dbSNP |
15 | g.38351103T= | CA2170812574 | SPRED1 | c.774T= (p.Tyr258=) c.810T= (p.Tyr270=) c.552T= (p.Tyr184=) c.711T= (p.Tyr237=) | |
15 | g.38351104G>A | CA391933211 | SPRED1 | c.775G>A (p.Ala259Thr) c.811G>A (p.Ala271Thr) c.553G>A (p.Ala185Thr) c.712G>A (p.Ala238Thr) | |
15 | g.38351104G>C | CA391933212 | SPRED1 | c.775G>C (p.Ala259Pro) c.811G>C (p.Ala271Pro) c.553G>C (p.Ala185Pro) c.712G>C (p.Ala238Pro) | |
15 | g.38351104G>T | CA391933213 | SPRED1 | c.775G>T (p.Ala259Ser) c.811G>T (p.Ala271Ser) c.553G>T (p.Ala185Ser) c.712G>T (p.Ala238Ser) | |
15 | g.38351104_38351111del | CA2695219957 | SPRED1 | c.775_782del (p.Ala259GlnfsTer4) c.811_818del (p.Ala271GlnfsTer4) c.553_560del (p.Ala185GlnfsTer4) c.712_719del (p.Ala238GlnfsTer4) | |
15 | g.38351105C>A | CA391933214 | SPRED1 | c.776C>A (p.Ala259Glu) c.812C>A (p.Ala271Glu) c.554C>A (p.Ala185Glu) c.713C>A (p.Ala238Glu) | |
15 | g.38351105C= | CA2170812575 | SPRED1 | c.776C= (p.Ala259=) c.812C= (p.Ala271=) c.554C= (p.Ala185=) c.713C= (p.Ala238=) | |
15 | g.38351105C>G | CA391933215 | SPRED1 | c.776C>G (p.Ala259Gly) c.812C>G (p.Ala271Gly) c.554C>G (p.Ala185Gly) c.713C>G (p.Ala238Gly) | |
15 | g.38351105C>T | CA391933216 | SPRED1 | c.776C>T (p.Ala259Val) c.812C>T (p.Ala271Val) c.554C>T (p.Ala185Val) c.713C>T (p.Ala238Val) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351106A= | CA2170812576 | SPRED1 | c.777A= (p.Ala259=) c.813A= (p.Ala271=) c.555A= (p.Ala185=) c.714A= (p.Ala238=) | |
15 | g.38351106A>C | CA489922944 | SPRED1 | c.777A>C (p.Ala259=) c.813A>C (p.Ala271=) c.555A>C (p.Ala185=) c.714A>C (p.Ala238=) | |
15 | g.38351106A>G | CA489922945 | SPRED1 | c.777A>G (p.Ala259=) c.813A>G (p.Ala271=) c.555A>G (p.Ala185=) c.714A>G (p.Ala238=) | dbSNP gnomAD v4 |
15 | g.38351106A>T | CA489922946 | SPRED1 | c.777A>T (p.Ala259=) c.813A>T (p.Ala271=) c.555A>T (p.Ala185=) c.714A>T (p.Ala238=) | ClinVar |
15 | g.38351107G>A | CA391933217 | SPRED1 | c.778G>A (p.Asp260Asn) c.814G>A (p.Asp272Asn) c.556G>A (p.Asp186Asn) c.715G>A (p.Asp239Asn) | |
15 | g.38351107G>C | CA391933218 | SPRED1 | c.778G>C (p.Asp260His) c.814G>C (p.Asp272His) c.556G>C (p.Asp186His) c.715G>C (p.Asp239His) | |
15 | g.38351107G>T | CA391933219 | SPRED1 | c.778G>T (p.Asp260Tyr) c.814G>T (p.Asp272Tyr) c.556G>T (p.Asp186Tyr) c.715G>T (p.Asp239Tyr) | |
15 | g.38351108A>C | CA391933220 | SPRED1 | c.779A>C (p.Asp260Ala) c.815A>C (p.Asp272Ala) c.557A>C (p.Asp186Ala) c.716A>C (p.Asp239Ala) | |
15 | g.38351108A>G | CA391933221 | SPRED1 | c.779A>G (p.Asp260Gly) c.815A>G (p.Asp272Gly) c.557A>G (p.Asp186Gly) c.716A>G (p.Asp239Gly) | |
15 | g.38351108A>T | CA391933222 | SPRED1 | c.779A>T (p.Asp260Val) c.815A>T (p.Asp272Val) c.557A>T (p.Asp186Val) c.716A>T (p.Asp239Val) | |
15 | g.38351109C>A | CA391933224 | SPRED1 | c.780C>A (p.Asp260Glu) c.816C>A (p.Asp272Glu) c.558C>A (p.Asp186Glu) c.717C>A (p.Asp239Glu) | |
15 | g.38351109C= | CA2170812577 | SPRED1 | c.780C= (p.Asp260=) c.816C= (p.Asp272=) c.558C= (p.Asp186=) c.717C= (p.Asp239=) | |
15 | g.38351109C>G | CA391933223 | SPRED1 | c.780C>G (p.Asp260Glu) c.816C>G (p.Asp272Glu) c.558C>G (p.Asp186Glu) c.717C>G (p.Asp239Glu) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351109C>T | CA489922947 | SPRED1 | c.780C>T (p.Asp260=) c.816C>T (p.Asp272=) c.558C>T (p.Asp186=) c.717C>T (p.Asp239=) | gnomAD v4 |
15 | g.38351110del | CA658761234 | SPRED1 | c.781del (p.Tyr261ThrfsTer?) c.817del (p.Tyr273ThrfsTer?) c.559del (p.Tyr187ThrfsTer?) c.718del (p.Tyr240ThrfsTer?) | |
15 | g.38351110T>A | CA391933225 | SPRED1 | c.781T>A (p.Tyr261Asn) c.817T>A (p.Tyr273Asn) c.559T>A (p.Tyr187Asn) c.718T>A (p.Tyr240Asn) | |
15 | g.38351110T>C | CA391933226 | SPRED1 | c.781T>C (p.Tyr261His) c.817T>C (p.Tyr273His) c.559T>C (p.Tyr187His) c.718T>C (p.Tyr240His) | COSMIC |
15 | g.38351110T>G | CA391933227 | SPRED1 | c.781T>G (p.Tyr261Asp) c.817T>G (p.Tyr273Asp) c.559T>G (p.Tyr187Asp) c.718T>G (p.Tyr240Asp) | |
15 | g.38351111A>C | CA391933228 | SPRED1 | c.782A>C (p.Tyr261Ser) c.818A>C (p.Tyr273Ser) c.560A>C (p.Tyr187Ser) c.719A>C (p.Tyr240Ser) | |
15 | g.38351111A>G | CA391933229 | SPRED1 | c.782A>G (p.Tyr261Cys) c.818A>G (p.Tyr273Cys) c.560A>G (p.Tyr187Cys) c.719A>G (p.Tyr240Cys) | ClinVar |
15 | g.38351111A>T | CA391933230 | SPRED1 | c.782A>T (p.Tyr261Phe) c.818A>T (p.Tyr273Phe) c.560A>T (p.Tyr187Phe) c.719A>T (p.Tyr240Phe) | |
15 | g.38351112C>A | CA391933231 | SPRED1 | c.783C>A (p.Tyr261Ter) c.819C>A (p.Tyr273Ter) c.561C>A (p.Tyr187Ter) c.720C>A (p.Tyr240Ter) | ClinVar dbSNP |
15 | g.38351112C= | CA2170812578 | SPRED1 | c.783C= (p.Tyr261=) c.819C= (p.Tyr273=) c.561C= (p.Tyr187=) c.720C= (p.Tyr240=) | |
15 | g.38351112C>G | CA391933232 | SPRED1 | c.783C>G (p.Tyr261Ter) c.819C>G (p.Tyr273Ter) c.561C>G (p.Tyr187Ter) c.720C>G (p.Tyr240Ter) | |
15 | g.38351112C>T | CA489922948 | SPRED1 | c.783C>T (p.Tyr261=) c.819C>T (p.Tyr273=) c.561C>T (p.Tyr187=) c.720C>T (p.Tyr240=) | dbSNP |
15 | g.38351113A= | CA2170812579 | SPRED1 | c.784A= (p.Arg262=) c.820A= (p.Arg274=) c.562A= (p.Arg188=) c.721A= (p.Arg241=) | |
15 | g.38351113A>C | CA490011761 | SPRED1 | c.784A>C (p.Arg262=) c.820A>C (p.Arg274=) c.562A>C (p.Arg188=) c.721A>C (p.Arg241=) | |
15 | g.38351113A>G | CA391933233 | SPRED1 | c.784A>G (p.Arg262Gly) c.820A>G (p.Arg274Gly) c.562A>G (p.Arg188Gly) c.721A>G (p.Arg241Gly) | |
15 | g.38351113A>T | CA251959 | SPRED1 | c.784A>T (p.Arg262Ter) c.820A>T (p.Arg274Ter) c.562A>T (p.Arg188Ter) c.721A>T (p.Arg241Ter) | ClinVar dbSNP |
15 | g.38351114G>A | CA391933234 | SPRED1 | c.785G>A (p.Arg262Lys) c.821G>A (p.Arg274Lys) c.563G>A (p.Arg188Lys) c.722G>A (p.Arg241Lys) | |
15 | g.38351114G>C | CA391933235 | SPRED1 | c.785G>C (p.Arg262Thr) c.821G>C (p.Arg274Thr) c.563G>C (p.Arg188Thr) c.722G>C (p.Arg241Thr) | |
15 | g.38351114G>T | CA391933236 | SPRED1 | c.785G>T (p.Arg262Ile) c.821G>T (p.Arg274Ile) c.563G>T (p.Arg188Ile) c.722G>T (p.Arg241Ile) | |
15 | g.38351115A>C | CA391933238 | SPRED1 | c.786A>C (p.Arg262Ser) c.822A>C (p.Arg274Ser) c.564A>C (p.Arg188Ser) c.723A>C (p.Arg241Ser) | |
15 | g.38351115A>G | CA490011762 | SPRED1 | c.786A>G (p.Arg262=) c.822A>G (p.Arg274=) c.564A>G (p.Arg188=) c.723A>G (p.Arg241=) | gnomAD v4 |
15 | g.38351115A>T | CA391933237 | SPRED1 | c.786A>T (p.Arg262Ser) c.822A>T (p.Arg274Ser) c.564A>T (p.Arg188Ser) c.723A>T (p.Arg241Ser) | |
15 | g.38351116C>A | CA391933239 | SPRED1 | c.787C>A (p.His263Asn) c.823C>A (p.His275Asn) c.565C>A (p.His189Asn) c.724C>A (p.His242Asn) | |
15 | g.38351116C>G | CA391933241 | SPRED1 | c.787C>G (p.His263Asp) c.823C>G (p.His275Asp) c.565C>G (p.His189Asp) c.724C>G (p.His242Asp) | |
15 | g.38351116C>T | CA391933240 | SPRED1 | c.787C>T (p.His263Tyr) c.823C>T (p.His275Tyr) c.565C>T (p.His189Tyr) c.724C>T (p.His242Tyr) | |
15 | g.38351117A>C | CA391933242 | SPRED1 | c.788A>C (p.His263Pro) c.824A>C (p.His275Pro) c.566A>C (p.His189Pro) c.725A>C (p.His242Pro) | |
15 | g.38351117A>G | CA391933243 | SPRED1 | c.788A>G (p.His263Arg) c.824A>G (p.His275Arg) c.566A>G (p.His189Arg) c.725A>G (p.His242Arg) | ClinVar |
15 | g.38351117A>T | CA391933244 | SPRED1 | c.788A>T (p.His263Leu) c.824A>T (p.His275Leu) c.566A>T (p.His189Leu) c.725A>T (p.His242Leu) | |
15 | g.38351118T>A | CA391933245 | SPRED1 | c.789T>A (p.His263Gln) c.825T>A (p.His275Gln) c.567T>A (p.His189Gln) c.726T>A (p.His242Gln) | |
15 | g.38351118T>C | CA490011763 | SPRED1 | c.789T>C (p.His263=) c.825T>C (p.His275=) c.567T>C (p.His189=) c.726T>C (p.His242=) | gnomAD v4 |
15 | g.38351118T>G | CA391933246 | SPRED1 | c.789T>G (p.His263Gln) c.825T>G (p.His275Gln) c.567T>G (p.His189Gln) c.726T>G (p.His242Gln) | |
15 | g.38351119C>A | CA391933247 | SPRED1 | c.790C>A (p.Pro264Thr) c.826C>A (p.Pro276Thr) c.568C>A (p.Pro190Thr) c.727C>A (p.Pro243Thr) | |
15 | g.38351119C>G | CA391933248 | SPRED1 | c.790C>G (p.Pro264Ala) c.826C>G (p.Pro276Ala) c.568C>G (p.Pro190Ala) c.727C>G (p.Pro243Ala) | |
15 | g.38351119C>T | CA391933249 | SPRED1 | c.790C>T (p.Pro264Ser) c.826C>T (p.Pro276Ser) c.568C>T (p.Pro190Ser) c.727C>T (p.Pro243Ser) | |
15 | g.38351119delinsAA | CA2580089316 | SPRED1 | c.790delinsAA (p.Pro264AsnfsTer2) c.826delinsAA (p.Pro276AsnfsTer2) c.568delinsAA (p.Pro190AsnfsTer2) c.727delinsAA (p.Pro243AsnfsTer2) | ClinVar |
15 | g.38351120C>A | CA391933250 | SPRED1 | c.791C>A (p.Pro264His) c.827C>A (p.Pro276His) c.569C>A (p.Pro190His) c.728C>A (p.Pro243His) | |
15 | g.38351120C>G | CA391933251 | SPRED1 | c.791C>G (p.Pro264Arg) c.827C>G (p.Pro276Arg) c.569C>G (p.Pro190Arg) c.728C>G (p.Pro243Arg) | |
15 | g.38351120C>T | CA391933252 | SPRED1 | c.791C>T (p.Pro264Leu) c.827C>T (p.Pro276Leu) c.569C>T (p.Pro190Leu) c.728C>T (p.Pro243Leu) | |
15 | g.38351121T>A | CA490011764 | SPRED1 | c.792T>A (p.Pro264=) c.828T>A (p.Pro276=) c.570T>A (p.Pro190=) c.729T>A (p.Pro243=) | |
15 | g.38351121T>C | CA490011766 | SPRED1 | c.792T>C (p.Pro264=) c.828T>C (p.Pro276=) c.570T>C (p.Pro190=) c.729T>C (p.Pro243=) | |
15 | g.38351121T>G | CA490011765 | SPRED1 | c.792T>G (p.Pro264=) c.828T>G (p.Pro276=) c.570T>G (p.Pro190=) c.729T>G (p.Pro243=) | |
15 | g.38351122G>A | CA391933255 | SPRED1 | c.793G>A (p.Asp265Asn) c.829G>A (p.Asp277Asn) c.571G>A (p.Asp191Asn) c.730G>A (p.Asp244Asn) | |
15 | g.38351122G>C | CA391933254 | SPRED1 | c.793G>C (p.Asp265His) c.829G>C (p.Asp277His) c.571G>C (p.Asp191His) c.730G>C (p.Asp244His) | |
15 | g.38351122G>T | CA391933253 | SPRED1 | c.793G>T (p.Asp265Tyr) c.829G>T (p.Asp277Tyr) c.571G>T (p.Asp191Tyr) c.730G>T (p.Asp244Tyr) | |
15 | g.38351123A>C | CA391933256 | SPRED1 | c.794A>C (p.Asp265Ala) c.830A>C (p.Asp277Ala) c.572A>C (p.Asp191Ala) c.731A>C (p.Asp244Ala) | |
15 | g.38351123A>G | CA391933257 | SPRED1 | c.794A>G (p.Asp265Gly) c.830A>G (p.Asp277Gly) c.572A>G (p.Asp191Gly) c.731A>G (p.Asp244Gly) | |
15 | g.38351123A>T | CA391933258 | SPRED1 | c.794A>T (p.Asp265Val) c.830A>T (p.Asp277Val) c.572A>T (p.Asp191Val) c.731A>T (p.Asp244Val) | |
15 | g.38351123dup | CA2499222897 | SPRED1 | c.794dup (p.Asp265GlufsTer6) c.830dup (p.Asp277GlufsTer6) c.572dup (p.Asp191GlufsTer6) c.731dup (p.Asp244GlufsTer6) | ClinVar dbSNP |
15 | g.38351124C>A | CA391933259 | SPRED1 | c.795C>A (p.Asp265Glu) c.831C>A (p.Asp277Glu) c.573C>A (p.Asp191Glu) c.732C>A (p.Asp244Glu) | |
15 | g.38351124C= | CA2170812580 | SPRED1 | c.795C= (p.Asp265=) c.831C= (p.Asp277=) c.573C= (p.Asp191=) c.732C= (p.Asp244=) | |
15 | g.38351124C>G | CA391933260 | SPRED1 | c.795C>G (p.Asp265Glu) c.831C>G (p.Asp277Glu) c.573C>G (p.Asp191Glu) c.732C>G (p.Asp244Glu) | |
15 | g.38351124C>T | CA7470188 | SPRED1 | c.795C>T (p.Asp265=) c.831C>T (p.Asp277=) c.573C>T (p.Asp191=) c.732C>T (p.Asp244=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351124_38351126delinsCAT | CA2170812581 | SPRED1 | c.795_797delinsCAT (p.Asp265=) c.831_833delinsCAT (p.Asp277=) c.573_575delinsCAT (p.Asp191=) c.732_734delinsCAT (p.Asp244=) | |
15 | g.38351125A= | CA2170812582 | SPRED1 | c.796A= (p.Met266=) c.832A= (p.Met278=) c.574A= (p.Met192=) c.733A= (p.Met245=) | |
15 | g.38351125A>C | CA391933261 | SPRED1 | c.796A>C (p.Met266Leu) c.832A>C (p.Met278Leu) c.574A>C (p.Met192Leu) c.733A>C (p.Met245Leu) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351125A>G | CA391933262 | SPRED1 | c.796A>G (p.Met266Val) c.832A>G (p.Met278Val) c.574A>G (p.Met192Val) c.733A>G (p.Met245Val) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351125A>T | CA391933263 | SPRED1 | c.796A>T (p.Met266Leu) c.832A>T (p.Met278Leu) c.574A>T (p.Met192Leu) c.733A>T (p.Met245Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351125_38351126del | CA348567 | SPRED1 | c.796_797del (p.Met266ValfsTer4) c.832_833del (p.Met278ValfsTer4) c.574_575del (p.Met192ValfsTer4) c.733_734del (p.Met245ValfsTer4) | ClinVar dbSNP gnomAD v4 |
15 | g.38351126T>A | CA391933264 | SPRED1 | c.797T>A (p.Met266Lys) c.833T>A (p.Met278Lys) c.575T>A (p.Met192Lys) c.734T>A (p.Met245Lys) | |
15 | g.38351126T>C | CA391933265 | SPRED1 | c.797T>C (p.Met266Thr) c.833T>C (p.Met278Thr) c.575T>C (p.Met192Thr) c.734T>C (p.Met245Thr) | COSMIC |
15 | g.38351126T>G | CA391933266 | SPRED1 | c.797T>G (p.Met266Arg) c.833T>G (p.Met278Arg) c.575T>G (p.Met192Arg) c.734T>G (p.Met245Arg) | |
15 | g.38351127G>A | CA391933269 | SPRED1 | c.798G>A (p.Met266Ile) c.834G>A (p.Met278Ile) c.576G>A (p.Met192Ile) c.735G>A (p.Met245Ile) | ClinVar gnomAD v4 |
15 | g.38351127G>C | CA391933268 | SPRED1 | c.798G>C (p.Met266Ile) c.834G>C (p.Met278Ile) c.576G>C (p.Met192Ile) c.735G>C (p.Met245Ile) | gnomAD v4 |
15 | g.38351127G>T | CA391933267 | SPRED1 | c.798G>T (p.Met266Ile) c.834G>T (p.Met278Ile) c.576G>T (p.Met192Ile) c.735G>T (p.Met245Ile) | |
15 | g.38351128T>A | CA391933270 | SPRED1 | c.799T>A (p.Trp267Arg) c.835T>A (p.Trp279Arg) c.577T>A (p.Trp193Arg) c.736T>A (p.Trp246Arg) | |
15 | g.38351128T>C | CA391933272 | SPRED1 | c.799T>C (p.Trp267Arg) c.835T>C (p.Trp279Arg) c.577T>C (p.Trp193Arg) c.736T>C (p.Trp246Arg) | |
15 | g.38351128T>G | CA391933271 | SPRED1 | c.799T>G (p.Trp267Gly) c.835T>G (p.Trp279Gly) c.577T>G (p.Trp193Gly) c.736T>G (p.Trp246Gly) | |
15 | g.38351129G>A | CA391933273 | SPRED1 | c.800G>A (p.Trp267Ter) c.836G>A (p.Trp279Ter) c.578G>A (p.Trp193Ter) c.737G>A (p.Trp246Ter) | ClinVar dbSNP |
15 | g.38351129G>C | CA391933275 | SPRED1 | c.800G>C (p.Trp267Ser) c.836G>C (p.Trp279Ser) c.578G>C (p.Trp193Ser) c.737G>C (p.Trp246Ser) | |
15 | g.38351129G= | CA2170812583 | SPRED1 | c.800G= (p.Trp267=) c.836G= (p.Trp279=) c.578G= (p.Trp193=) c.737G= (p.Trp246=) | |
15 | g.38351129G>T | CA391933274 | SPRED1 | c.800G>T (p.Trp267Leu) c.836G>T (p.Trp279Leu) c.578G>T (p.Trp193Leu) c.737G>T (p.Trp246Leu) | |
15 | g.38351130G>A | CA391933276 | SPRED1 | c.801G>A (p.Trp267Ter) c.837G>A (p.Trp279Ter) c.579G>A (p.Trp193Ter) c.738G>A (p.Trp246Ter) | |
15 | g.38351130G>C | CA391933278 | SPRED1 | c.801G>C (p.Trp267Cys) c.837G>C (p.Trp279Cys) c.579G>C (p.Trp193Cys) c.738G>C (p.Trp246Cys) | |
15 | g.38351130G>T | CA391933277 | SPRED1 | c.801G>T (p.Trp267Cys) c.837G>T (p.Trp279Cys) c.579G>T (p.Trp193Cys) c.738G>T (p.Trp246Cys) | |
15 | g.38351131A>C | CA391933279 | SPRED1 | c.802A>C (p.Lys268Gln) c.838A>C (p.Lys280Gln) c.580A>C (p.Lys194Gln) c.739A>C (p.Lys247Gln) | |
15 | g.38351131A>G | CA391933281 | SPRED1 | c.802A>G (p.Lys268Glu) c.838A>G (p.Lys280Glu) c.580A>G (p.Lys194Glu) c.739A>G (p.Lys247Glu) | |
15 | g.38351131A>T | CA391933280 | SPRED1 | c.802A>T (p.Lys268Ter) c.838A>T (p.Lys280Ter) c.580A>T (p.Lys194Ter) c.739A>T (p.Lys247Ter) | |
15 | g.38351132A>C | CA391933282 | SPRED1 | c.803A>C (p.Lys268Thr) c.839A>C (p.Lys280Thr) c.581A>C (p.Lys194Thr) c.740A>C (p.Lys247Thr) | |
15 | g.38351132A>G | CA391933283 | SPRED1 | c.803A>G (p.Lys268Arg) c.839A>G (p.Lys280Arg) c.581A>G (p.Lys194Arg) c.740A>G (p.Lys247Arg) | |
15 | g.38351132A>T | CA391933284 | SPRED1 | c.803A>T (p.Lys268Ile) c.839A>T (p.Lys280Ile) c.581A>T (p.Lys194Ile) c.740A>T (p.Lys247Ile) | |
15 | g.38351133A= | CA2170812584 | SPRED1 | c.804A= (p.Lys268=) c.840A= (p.Lys280=) c.582A= (p.Lys194=) c.741A= (p.Lys247=) | |
15 | g.38351133A>C | CA391933285 | SPRED1 | c.804A>C (p.Lys268Asn) c.840A>C (p.Lys280Asn) c.582A>C (p.Lys194Asn) c.741A>C (p.Lys247Asn) | |
15 | g.38351133A>G | CA490011769 | SPRED1 | c.804A>G (p.Lys268=) c.840A>G (p.Lys280=) c.582A>G (p.Lys194=) c.741A>G (p.Lys247=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351133A>T | CA391933286 | SPRED1 | c.804A>T (p.Lys268Asn) c.840A>T (p.Lys280Asn) c.582A>T (p.Lys194Asn) c.741A>T (p.Lys247Asn) | |
15 | g.38351134A>C | CA391933287 | SPRED1 | c.805A>C (p.Asn269His) c.841A>C (p.Asn281His) c.583A>C (p.Asn195His) c.742A>C (p.Asn248His) | |
15 | g.38351134A>G | CA391933288 | SPRED1 | c.805A>G (p.Asn269Asp) c.841A>G (p.Asn281Asp) c.583A>G (p.Asn195Asp) c.742A>G (p.Asn248Asp) | |
15 | g.38351134A>T | CA391933289 | SPRED1 | c.805A>T (p.Asn269Tyr) c.841A>T (p.Asn281Tyr) c.583A>T (p.Asn195Tyr) c.742A>T (p.Asn248Tyr) | |
15 | g.38351135A>C | CA391933290 | SPRED1 | c.806A>C (p.Asn269Thr) c.842A>C (p.Asn281Thr) c.584A>C (p.Asn195Thr) c.743A>C (p.Asn248Thr) | |
15 | g.38351135A>G | CA391933291 | SPRED1 | c.806A>G (p.Asn269Ser) c.842A>G (p.Asn281Ser) c.584A>G (p.Asn195Ser) c.743A>G (p.Asn248Ser) | |
15 | g.38351135A>T | CA391933292 | SPRED1 | c.806A>T (p.Asn269Ile) c.842A>T (p.Asn281Ile) c.584A>T (p.Asn195Ile) c.743A>T (p.Asn248Ile) | |
15 | g.38351136T>A | CA391933293 | SPRED1 | c.807T>A (p.Asn269Lys) c.843T>A (p.Asn281Lys) c.585T>A (p.Asn195Lys) c.744T>A (p.Asn248Lys) | |
15 | g.38351136T>C | CA490011773 | SPRED1 | c.807T>C (p.Asn269=) c.843T>C (p.Asn281=) c.585T>C (p.Asn195=) c.744T>C (p.Asn248=) | |
15 | g.38351136T>G | CA10603437 | SPRED1 | c.807T>G (p.Asn269Lys) c.843T>G (p.Asn281Lys) c.585T>G (p.Asn195Lys) c.744T>G (p.Asn248Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351136T= | CA2170812585 | SPRED1 | c.807T= (p.Asn269=) c.843T= (p.Asn281=) c.585T= (p.Asn195=) c.744T= (p.Asn248=) | |
15 | g.38351137G>A | CA391933294 | SPRED1 | c.808G>A (p.Asp270Asn) c.844G>A (p.Asp282Asn) c.586G>A (p.Asp196Asn) c.745G>A (p.Asp249Asn) | |
15 | g.38351137G>C | CA391933296 | SPRED1 | c.808G>C (p.Asp270His) c.844G>C (p.Asp282His) c.586G>C (p.Asp196His) c.745G>C (p.Asp249His) | |
15 | g.38351137G= | CA2170812586 | SPRED1 | c.808G= (p.Asp270=) c.844G= (p.Asp282=) c.586G= (p.Asp196=) c.745G= (p.Asp249=) | |
15 | g.38351137G>T | CA391933295 | SPRED1 | c.808G>T (p.Asp270Tyr) c.844G>T (p.Asp282Tyr) c.586G>T (p.Asp196Tyr) c.745G>T (p.Asp249Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351138A= | CA2170812587 | SPRED1 | c.809A= (p.Asp270=) c.845A= (p.Asp282=) c.587A= (p.Asp196=) c.746A= (p.Asp249=) | |
15 | g.38351138A>C | CA391933297 | SPRED1 | c.809A>C (p.Asp270Ala) c.845A>C (p.Asp282Ala) c.587A>C (p.Asp196Ala) c.746A>C (p.Asp249Ala) | COSMIC |
15 | g.38351138A>G | CA391933298 | SPRED1 | c.809A>G (p.Asp270Gly) c.845A>G (p.Asp282Gly) c.587A>G (p.Asp196Gly) c.746A>G (p.Asp249Gly) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351138A>T | CA391933299 | SPRED1 | c.809A>T (p.Asp270Val) c.845A>T (p.Asp282Val) c.587A>T (p.Asp196Val) c.746A>T (p.Asp249Val) | |
15 | g.38351139C>A | CA391933300 | SPRED1 | c.810C>A (p.Asp270Glu) c.846C>A (p.Asp282Glu) c.588C>A (p.Asp196Glu) c.747C>A (p.Asp249Glu) | |
15 | g.38351139C>G | CA391933301 | SPRED1 | c.810C>G (p.Asp270Glu) c.846C>G (p.Asp282Glu) c.588C>G (p.Asp196Glu) c.747C>G (p.Asp249Glu) | |
15 | g.38351139C>T | CA490011776 | SPRED1 | c.810C>T (p.Asp270=) c.846C>T (p.Asp282=) c.588C>T (p.Asp196=) c.747C>T (p.Asp249=) | |
15 | g.38351140T>A | CA391933302 | SPRED1 | c.811T>A (p.Leu271Met) c.847T>A (p.Leu283Met) c.589T>A (p.Leu197Met) c.748T>A (p.Leu250Met) | |
15 | g.38351140T>C | CA490011778 | SPRED1 | c.811T>C (p.Leu271=) c.847T>C (p.Leu283=) c.589T>C (p.Leu197=) c.748T>C (p.Leu250=) | |
15 | g.38351140T>G | CA391933303 | SPRED1 | c.811T>G (p.Leu271Val) c.847T>G (p.Leu283Val) c.589T>G (p.Leu197Val) c.748T>G (p.Leu250Val) | |
15 | g.38351141T>A | CA391933304 | SPRED1 | c.812T>A (p.Leu271Ter) c.848T>A (p.Leu283Ter) c.590T>A (p.Leu197Ter) c.749T>A (p.Leu250Ter) | |
15 | g.38351141T>C | CA391933305 | SPRED1 | c.812T>C (p.Leu271Ser) c.848T>C (p.Leu283Ser) c.590T>C (p.Leu197Ser) c.749T>C (p.Leu250Ser) | dbSNP gnomAD v4 |
15 | g.38351141T>G | CA391933306 | SPRED1 | c.812T>G (p.Leu271Trp) c.848T>G (p.Leu283Trp) c.590T>G (p.Leu197Trp) c.749T>G (p.Leu250Trp) | |
15 | g.38351141T= | CA2170812588 | SPRED1 | c.812T= (p.Leu271=) c.848T= (p.Leu283=) c.590T= (p.Leu197=) c.749T= (p.Leu250=) | |
15 | g.38351142G>A | CA490011784 | SPRED1 | c.813G>A (p.Leu271=) c.849G>A (p.Leu283=) c.591G>A (p.Leu197=) c.750G>A (p.Leu250=) | |
15 | g.38351142G>C | CA391933307 | SPRED1 | c.813G>C (p.Leu271Phe) c.849G>C (p.Leu283Phe) c.591G>C (p.Leu197Phe) c.750G>C (p.Leu250Phe) | |
15 | g.38351142G>T | CA391933308 | SPRED1 | c.813G>T (p.Leu271Phe) c.849G>T (p.Leu283Phe) c.591G>T (p.Leu197Phe) c.750G>T (p.Leu250Phe) | |
15 | g.38351143G>A | CA391933309 | SPRED1 | c.814G>A (p.Glu272Lys) c.850G>A (p.Glu284Lys) c.592G>A (p.Glu198Lys) c.751G>A (p.Glu251Lys) | COSMIC |
15 | g.38351143G>C | CA391933310 | SPRED1 | c.814G>C (p.Glu272Gln) c.850G>C (p.Glu284Gln) c.592G>C (p.Glu198Gln) c.751G>C (p.Glu251Gln) | |
15 | g.38351143G>T | CA391933311 | SPRED1 | c.814G>T (p.Glu272Ter) c.850G>T (p.Glu284Ter) c.592G>T (p.Glu198Ter) c.751G>T (p.Glu251Ter) | |
15 | g.38351145_38351148del | CA2627716205 | SPRED1 | c.816_819del (p.Arg273MetfsTer29) c.852_855del (p.Arg285MetfsTer29) c.594_597del (p.Arg199MetfsTer29) c.753_756del (p.Arg252MetfsTer29) | gnomAD v4 |
15 | g.38351144A>C | CA391933312 | SPRED1 | c.815A>C (p.Glu272Ala) c.851A>C (p.Glu284Ala) c.593A>C (p.Glu198Ala) c.752A>C (p.Glu251Ala) | |
15 | g.38351144A>G | CA391933313 | SPRED1 | c.815A>G (p.Glu272Gly) c.851A>G (p.Glu284Gly) c.593A>G (p.Glu198Gly) c.752A>G (p.Glu251Gly) | |
15 | g.38351144A>T | CA391933314 | SPRED1 | c.815A>T (p.Glu272Val) c.851A>T (p.Glu284Val) c.593A>T (p.Glu198Val) c.752A>T (p.Glu251Val) | |
15 | g.38351145A>C | CA391933315 | SPRED1 | c.816A>C (p.Glu272Asp) c.852A>C (p.Glu284Asp) c.594A>C (p.Glu198Asp) c.753A>C (p.Glu251Asp) | |
15 | g.38351145A>G | CA490011789 | SPRED1 | c.816A>G (p.Glu272=) c.852A>G (p.Glu284=) c.594A>G (p.Glu198=) c.753A>G (p.Glu251=) | |
15 | g.38351145A>T | CA391933316 | SPRED1 | c.816A>T (p.Glu272Asp) c.852A>T (p.Glu284Asp) c.594A>T (p.Glu198Asp) c.753A>T (p.Glu251Asp) | |
15 | g.38351146A= | CA2170812589 | SPRED1 | c.817A= (p.Arg273=) c.853A= (p.Arg285=) c.595A= (p.Arg199=) c.754A= (p.Arg252=) | |
15 | g.38351146A>C | CA490011791 | SPRED1 | c.817A>C (p.Arg273=) c.853A>C (p.Arg285=) c.595A>C (p.Arg199=) c.754A>C (p.Arg252=) | |
15 | g.38351146A>G | CA269293443 | SPRED1 | c.817A>G (p.Arg273Gly) c.853A>G (p.Arg285Gly) c.595A>G (p.Arg199Gly) c.754A>G (p.Arg252Gly) | dbSNP gnomAD v4 |
15 | g.38351146A>T | CA391933317 | SPRED1 | c.817A>T (p.Arg273Ter) c.853A>T (p.Arg285Ter) c.595A>T (p.Arg199Ter) c.754A>T (p.Arg252Ter) | |
15 | g.38351147G>A | CA391933318 | SPRED1 | c.818G>A (p.Arg273Lys) c.854G>A (p.Arg285Lys) c.596G>A (p.Arg199Lys) c.755G>A (p.Arg252Lys) | |
15 | g.38351147G>C | CA269293444 | SPRED1 | c.818G>C (p.Arg273Thr) c.854G>C (p.Arg285Thr) c.596G>C (p.Arg199Thr) c.755G>C (p.Arg252Thr) | dbSNP |
15 | g.38351147G= | CA2170812590 | SPRED1 | c.818G= (p.Arg273=) c.854G= (p.Arg285=) c.596G= (p.Arg199=) c.755G= (p.Arg252=) | |
15 | g.38351147G>T | CA391933319 | SPRED1 | c.818G>T (p.Arg273Ile) c.854G>T (p.Arg285Ile) c.596G>T (p.Arg199Ile) c.755G>T (p.Arg252Ile) | COSMIC |
15 | g.38351148A>C | CA391933320 | SPRED1 | c.819A>C (p.Arg273Ser) c.855A>C (p.Arg285Ser) c.597A>C (p.Arg199Ser) c.756A>C (p.Arg252Ser) | |
15 | g.38351148A>G | CA490011795 | SPRED1 | c.819A>G (p.Arg273=) c.855A>G (p.Arg285=) c.597A>G (p.Arg199=) c.756A>G (p.Arg252=) | |
15 | g.38351148A>T | CA391933321 | SPRED1 | c.819A>T (p.Arg273Ser) c.855A>T (p.Arg285Ser) c.597A>T (p.Arg199Ser) c.756A>T (p.Arg252Ser) | |
15 | g.38351149G>A | CA391933322 | SPRED1 | c.820G>A (p.Asp274Asn) c.856G>A (p.Asp286Asn) c.598G>A (p.Asp200Asn) c.757G>A (p.Asp253Asn) | |
15 | g.38351149G>C | CA391933323 | SPRED1 | c.820G>C (p.Asp274His) c.856G>C (p.Asp286His) c.598G>C (p.Asp200His) c.757G>C (p.Asp253His) | gnomAD v4 |
15 | g.38351149G>T | CA391933324 | SPRED1 | c.820G>T (p.Asp274Tyr) c.856G>T (p.Asp286Tyr) c.598G>T (p.Asp200Tyr) c.757G>T (p.Asp253Tyr) | gnomAD v4 |
15 | g.38351150A= | CA2170812591 | SPRED1 | c.821A= (p.Asp274=) c.857A= (p.Asp286=) c.599A= (p.Asp200=) c.758A= (p.Asp253=) | |
15 | g.38351150A>C | CA391933325 | SPRED1 | c.821A>C (p.Asp274Ala) c.857A>C (p.Asp286Ala) c.599A>C (p.Asp200Ala) c.758A>C (p.Asp253Ala) | COSMIC |
15 | g.38351150A>G | CA269293445 | SPRED1 | c.821A>G (p.Asp274Gly) c.857A>G (p.Asp286Gly) c.599A>G (p.Asp200Gly) c.758A>G (p.Asp253Gly) | dbSNP gnomAD v4 |
15 | g.38351150A>T | CA391933326 | SPRED1 | c.821A>T (p.Asp274Val) c.857A>T (p.Asp286Val) c.599A>T (p.Asp200Val) c.758A>T (p.Asp253Val) | |
15 | g.38351151T>A | CA391933327 | SPRED1 | c.822T>A (p.Asp274Glu) c.858T>A (p.Asp286Glu) c.600T>A (p.Asp200Glu) c.759T>A (p.Asp253Glu) | |
15 | g.38351151T>C | CA490011800 | SPRED1 | c.822T>C (p.Asp274=) c.858T>C (p.Asp286=) c.600T>C (p.Asp200=) c.759T>C (p.Asp253=) | |
15 | g.38351151T>G | CA391933328 | SPRED1 | c.822T>G (p.Asp274Glu) c.858T>G (p.Asp286Glu) c.600T>G (p.Asp200Glu) c.759T>G (p.Asp253Glu) | |
15 | g.38351152G>A | CA391933329 | SPRED1 | c.823G>A (p.Asp275Asn) c.859G>A (p.Asp287Asn) c.601G>A (p.Asp201Asn) c.760G>A (p.Asp254Asn) | |
15 | g.38351152G>C | CA391933330 | SPRED1 | c.823G>C (p.Asp275His) c.859G>C (p.Asp287His) c.601G>C (p.Asp201His) c.760G>C (p.Asp254His) | |
15 | g.38351152G= | CA2170812592 | SPRED1 | c.823G= (p.Asp275=) c.859G= (p.Asp287=) c.601G= (p.Asp201=) c.760G= (p.Asp254=) | |
15 | g.38351152G>T | CA7470189 | SPRED1 | c.823G>T (p.Asp275Tyr) c.859G>T (p.Asp287Tyr) c.601G>T (p.Asp201Tyr) c.760G>T (p.Asp254Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38351153A>C | CA391933333 | SPRED1 | c.824A>C (p.Asp275Ala) c.860A>C (p.Asp287Ala) c.602A>C (p.Asp201Ala) c.761A>C (p.Asp254Ala) | |
15 | g.38351153A>G | CA391933332 | SPRED1 | c.824A>G (p.Asp275Gly) c.860A>G (p.Asp287Gly) c.602A>G (p.Asp201Gly) c.761A>G (p.Asp254Gly) | |
15 | g.38351153A>T | CA391933331 | SPRED1 | c.824A>T (p.Asp275Val) c.860A>T (p.Asp287Val) c.602A>T (p.Asp201Val) c.761A>T (p.Asp254Val) | |
15 | g.38351154T>A | CA391933334 | SPRED1 | c.825T>A (p.Asp275Glu) c.861T>A (p.Asp287Glu) c.603T>A (p.Asp201Glu) c.762T>A (p.Asp254Glu) | |
15 | g.38351154T>C | CA490011803 | SPRED1 | c.825T>C (p.Asp275=) c.861T>C (p.Asp287=) c.603T>C (p.Asp201=) c.762T>C (p.Asp254=) | |
15 | g.38351154T>G | CA391933335 | SPRED1 | c.825T>G (p.Asp275Glu) c.861T>G (p.Asp287Glu) c.603T>G (p.Asp201Glu) c.762T>G (p.Asp254Glu) | |
15 | g.38351155G>A | CA391933336 | SPRED1 | c.826G>A (p.Ala276Thr) c.862G>A (p.Ala288Thr) c.604G>A (p.Ala202Thr) c.763G>A (p.Ala255Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351155G>C | CA391933337 | SPRED1 | c.826G>C (p.Ala276Pro) c.862G>C (p.Ala288Pro) c.604G>C (p.Ala202Pro) c.763G>C (p.Ala255Pro) | |
15 | g.38351155G= | CA2170812593 | SPRED1 | c.826G= (p.Ala276=) c.862G= (p.Ala288=) c.604G= (p.Ala202=) c.763G= (p.Ala255=) | |
15 | g.38351155G>T | CA391933338 | SPRED1 | c.826G>T (p.Ala276Ser) c.862G>T (p.Ala288Ser) c.604G>T (p.Ala202Ser) c.763G>T (p.Ala255Ser) | |
15 | g.38351156C>A | CA391933339 | SPRED1 | c.827C>A (p.Ala276Asp) c.863C>A (p.Ala288Asp) c.605C>A (p.Ala202Asp) c.764C>A (p.Ala255Asp) | |
15 | g.38351156C>G | CA391933340 | SPRED1 | c.827C>G (p.Ala276Gly) c.863C>G (p.Ala288Gly) c.605C>G (p.Ala202Gly) c.764C>G (p.Ala255Gly) | |
15 | g.38351156C>T | CA391933341 | SPRED1 | c.827C>T (p.Ala276Val) c.863C>T (p.Ala288Val) c.605C>T (p.Ala202Val) c.764C>T (p.Ala255Val) | |
15 | g.38351157T>A | CA490011808 | SPRED1 | c.828T>A (p.Ala276=) c.864T>A (p.Ala288=) c.606T>A (p.Ala202=) c.765T>A (p.Ala255=) | |
15 | g.38351157T>C | CA490011809 | SPRED1 | c.828T>C (p.Ala276=) c.864T>C (p.Ala288=) c.606T>C (p.Ala202=) c.765T>C (p.Ala255=) | |
15 | g.38351157T>G | CA490011810 | SPRED1 | c.828T>G (p.Ala276=) c.864T>G (p.Ala288=) c.606T>G (p.Ala202=) c.765T>G (p.Ala255=) | |
15 | g.38351158G>A | CA269293446 | SPRED1 | c.829G>A (p.Asp277Asn) c.865G>A (p.Asp289Asn) c.607G>A (p.Asp203Asn) c.766G>A (p.Asp256Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351158G>C | CA391933342 | SPRED1 | c.829G>C (p.Asp277His) c.865G>C (p.Asp289His) c.607G>C (p.Asp203His) c.766G>C (p.Asp256His) | |
15 | g.38351158G= | CA2170812594 | SPRED1 | c.829G= (p.Asp277=) c.865G= (p.Asp289=) c.607G= (p.Asp203=) c.766G= (p.Asp256=) | |
15 | g.38351158G>T | CA391933343 | SPRED1 | c.829G>T (p.Asp277Tyr) c.865G>T (p.Asp289Tyr) c.607G>T (p.Asp203Tyr) c.766G>T (p.Asp256Tyr) | |
15 | g.38351159A>C | CA391933344 | SPRED1 | c.830A>C (p.Asp277Ala) c.866A>C (p.Asp289Ala) c.608A>C (p.Asp203Ala) c.767A>C (p.Asp256Ala) | |
15 | g.38351159A>G | CA391933345 | SPRED1 | c.830A>G (p.Asp277Gly) c.866A>G (p.Asp289Gly) c.608A>G (p.Asp203Gly) c.767A>G (p.Asp256Gly) | |
15 | g.38351159A>T | CA391933346 | SPRED1 | c.830A>T (p.Asp277Val) c.866A>T (p.Asp289Val) c.608A>T (p.Asp203Val) c.767A>T (p.Asp256Val) | |
15 | g.38351160T>A | CA391933348 | SPRED1 | c.831T>A (p.Asp277Glu) c.867T>A (p.Asp289Glu) c.609T>A (p.Asp203Glu) c.768T>A (p.Asp256Glu) | |
15 | g.38351160T>C | CA490011815 | SPRED1 | c.831T>C (p.Asp277=) c.867T>C (p.Asp289=) c.609T>C (p.Asp203=) c.768T>C (p.Asp256=) | |
15 | g.38351160T>G | CA391933347 | SPRED1 | c.831T>G (p.Asp277Glu) c.867T>G (p.Asp289Glu) c.609T>G (p.Asp203Glu) c.768T>G (p.Asp256Glu) | |
15 | g.38351161dup | CA658761235 | SPRED1 | c.832dup (p.Ser278PhefsTer7) c.868dup (p.Ser290PhefsTer7) c.610dup (p.Ser204PhefsTer7) c.769dup (p.Ser257PhefsTer7) | gnomAD v4 |
15 | g.38351161T>A | CA391933349 | SPRED1 | c.832T>A (p.Ser278Thr) c.868T>A (p.Ser290Thr) c.610T>A (p.Ser204Thr) c.769T>A (p.Ser257Thr) | |
15 | g.38351161T>C | CA391933350 | SPRED1 | c.832T>C (p.Ser278Pro) c.868T>C (p.Ser290Pro) c.610T>C (p.Ser204Pro) c.769T>C (p.Ser257Pro) | |
15 | g.38351161T>G | CA391933351 | SPRED1 | c.832T>G (p.Ser278Ala) c.868T>G (p.Ser290Ala) c.610T>G (p.Ser204Ala) c.769T>G (p.Ser257Ala) | |
15 | g.38351162C>A | CA391933352 | SPRED1 | c.833C>A (p.Ser278Tyr) c.869C>A (p.Ser290Tyr) c.611C>A (p.Ser204Tyr) c.770C>A (p.Ser257Tyr) | |
15 | g.38351162C>G | CA391933353 | SPRED1 | c.833C>G (p.Ser278Cys) c.869C>G (p.Ser290Cys) c.611C>G (p.Ser204Cys) c.770C>G (p.Ser257Cys) | |
15 | g.38351162C>T | CA391933354 | SPRED1 | c.833C>T (p.Ser278Phe) c.869C>T (p.Ser290Phe) c.611C>T (p.Ser204Phe) c.770C>T (p.Ser257Phe) | |
15 | g.38351163C>A | CA490011818 | SPRED1 | c.834C>A (p.Ser278=) c.870C>A (p.Ser290=) c.612C>A (p.Ser204=) c.771C>A (p.Ser257=) | |
15 | g.38351163C>G | CA490011820 | SPRED1 | c.834C>G (p.Ser278=) c.870C>G (p.Ser290=) c.612C>G (p.Ser204=) c.771C>G (p.Ser257=) | |
15 | g.38351163C>T | CA490011821 | SPRED1 | c.834C>T (p.Ser278=) c.870C>T (p.Ser290=) c.612C>T (p.Ser204=) c.771C>T (p.Ser257=) | |
15 | g.38351164A= | CA2170812595 | SPRED1 | c.835A= (p.Ser279=) c.871A= (p.Ser291=) c.613A= (p.Ser205=) c.772A= (p.Ser258=) | |
15 | g.38351164A>C | CA391933355 | SPRED1 | c.835A>C (p.Ser279Arg) c.871A>C (p.Ser291Arg) c.613A>C (p.Ser205Arg) c.772A>C (p.Ser258Arg) | |
15 | g.38351164A>G | CA7470190 | SPRED1 | c.835A>G (p.Ser279Gly) c.871A>G (p.Ser291Gly) c.613A>G (p.Ser205Gly) c.772A>G (p.Ser258Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38351164A>T | CA391933356 | SPRED1 | c.835A>T (p.Ser279Cys) c.871A>T (p.Ser291Cys) c.613A>T (p.Ser205Cys) c.772A>T (p.Ser258Cys) | |
15 | g.38351165G>A | CA269293447 | SPRED1 | c.836G>A (p.Ser279Asn) c.872G>A (p.Ser291Asn) c.614G>A (p.Ser205Asn) c.773G>A (p.Ser258Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351165G>C | CA391933357 | SPRED1 | c.836G>C (p.Ser279Thr) c.872G>C (p.Ser291Thr) c.614G>C (p.Ser205Thr) c.773G>C (p.Ser258Thr) | gnomAD v4 |
15 | g.38351165G= | CA2170812596 | SPRED1 | c.836G= (p.Ser279=) c.872G= (p.Ser291=) c.614G= (p.Ser205=) c.773G= (p.Ser258=) | |
15 | g.38351165G>T | CA391933358 | SPRED1 | c.836G>T (p.Ser279Ile) c.872G>T (p.Ser291Ile) c.614G>T (p.Ser205Ile) c.773G>T (p.Ser258Ile) | dbSNP |
15 | g.38351166T>A | CA391933360 | SPRED1 | c.837T>A (p.Ser279Arg) c.873T>A (p.Ser291Arg) c.615T>A (p.Ser205Arg) c.774T>A (p.Ser258Arg) | dbSNP |
15 | g.38351166T>C | CA490011827 | SPRED1 | c.837T>C (p.Ser279=) c.873T>C (p.Ser291=) c.615T>C (p.Ser205=) c.774T>C (p.Ser258=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351166T>G | CA391933359 | SPRED1 | c.837T>G (p.Ser279Arg) c.873T>G (p.Ser291Arg) c.615T>G (p.Ser205Arg) c.774T>G (p.Ser258Arg) | |
15 | g.38351166T= | CA2170812597 | SPRED1 | c.837T= (p.Ser279=) c.873T= (p.Ser291=) c.615T= (p.Ser205=) c.774T= (p.Ser258=) | |
15 | g.38351167A= | CA2170812598 | SPRED1 | c.838A= (p.Ile280=) c.874A= (p.Ile292=) c.616A= (p.Ile206=) c.775A= (p.Ile259=) | |
15 | g.38351167A>C | CA391933361 | SPRED1 | c.838A>C (p.Ile280Leu) c.874A>C (p.Ile292Leu) c.616A>C (p.Ile206Leu) c.775A>C (p.Ile259Leu) | |
15 | g.38351167A>G | CA391933362 | SPRED1 | c.838A>G (p.Ile280Val) c.874A>G (p.Ile292Val) c.616A>G (p.Ile206Val) c.775A>G (p.Ile259Val) | dbSNP gnomAD v4 |
15 | g.38351167A>T | CA391933363 | SPRED1 | c.838A>T (p.Ile280Phe) c.874A>T (p.Ile292Phe) c.616A>T (p.Ile206Phe) c.775A>T (p.Ile259Phe) | |
15 | g.38351168T>A | CA391933364 | SPRED1 | c.839T>A (p.Ile280Asn) c.875T>A (p.Ile292Asn) c.617T>A (p.Ile206Asn) c.776T>A (p.Ile259Asn) | |
15 | g.38351168T>C | CA391933365 | SPRED1 | c.839T>C (p.Ile280Thr) c.875T>C (p.Ile292Thr) c.617T>C (p.Ile206Thr) c.776T>C (p.Ile259Thr) | |
15 | g.38351168T>G | CA391933366 | SPRED1 | c.839T>G (p.Ile280Ser) c.875T>G (p.Ile292Ser) c.617T>G (p.Ile206Ser) c.776T>G (p.Ile259Ser) | |
15 | g.38351169T>A | CA490011835 | SPRED1 | c.840T>A (p.Ile280=) c.876T>A (p.Ile292=) c.618T>A (p.Ile206=) c.777T>A (p.Ile259=) | |
15 | g.38351169T>C | CA490011834 | SPRED1 | c.840T>C (p.Ile280=) c.876T>C (p.Ile292=) c.618T>C (p.Ile206=) c.777T>C (p.Ile259=) | |
15 | g.38351169T>G | CA391933367 | SPRED1 | c.840T>G (p.Ile280Met) c.876T>G (p.Ile292Met) c.618T>G (p.Ile206Met) c.777T>G (p.Ile259Met) | |
15 | g.38351170C>A | CA391933368 | SPRED1 | c.841C>A (p.Gln281Lys) c.877C>A (p.Gln293Lys) c.619C>A (p.Gln207Lys) c.778C>A (p.Gln260Lys) | |
15 | g.38351170C= | CA2170812599 | SPRED1 | c.841C= (p.Gln281=) c.877C= (p.Gln293=) c.619C= (p.Gln207=) c.778C= (p.Gln260=) | |
15 | g.38351170C>G | CA391933369 | SPRED1 | c.841C>G (p.Gln281Glu) c.877C>G (p.Gln293Glu) c.619C>G (p.Gln207Glu) c.778C>G (p.Gln260Glu) | |
15 | g.38351170C>T | CA7470191 | SPRED1 | c.841C>T (p.Gln281Ter) c.877C>T (p.Gln293Ter) c.619C>T (p.Gln207Ter) c.778C>T (p.Gln260Ter) | ClinVar dbSNP ExAC |
15 | g.38351171A= | CA2170812600 | SPRED1 | c.842A= (p.Gln281=) c.878A= (p.Gln293=) c.620A= (p.Gln207=) c.779A= (p.Gln260=) | |
15 | g.38351171A>C | CA391933370 | SPRED1 | c.842A>C (p.Gln281Pro) c.878A>C (p.Gln293Pro) c.620A>C (p.Gln207Pro) c.779A>C (p.Gln260Pro) | |
15 | g.38351171A>G | CA391933371 | SPRED1 | c.842A>G (p.Gln281Arg) c.878A>G (p.Gln293Arg) c.620A>G (p.Gln207Arg) c.779A>G (p.Gln260Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351171A>T | CA391933372 | SPRED1 | c.842A>T (p.Gln281Leu) c.878A>T (p.Gln293Leu) c.620A>T (p.Gln207Leu) c.779A>T (p.Gln260Leu) | |
15 | g.38351172G>A | CA490011838 | SPRED1 | c.843G>A (p.Gln281=) c.879G>A (p.Gln293=) c.621G>A (p.Gln207=) c.780G>A (p.Gln260=) | ClinVar dbSNP |
15 | g.38351172G>C | CA391933374 | SPRED1 | c.843G>C (p.Gln281His) c.879G>C (p.Gln293His) c.621G>C (p.Gln207His) c.780G>C (p.Gln260His) | gnomAD v4 |
15 | g.38351172G= | CA2170812601 | SPRED1 | c.843G= (p.Gln281=) c.879G= (p.Gln293=) c.621G= (p.Gln207=) c.780G= (p.Gln260=) | |
15 | g.38351172G>T | CA391933373 | SPRED1 | c.843G>T (p.Gln281His) c.879G>T (p.Gln293His) c.621G>T (p.Gln207His) c.780G>T (p.Gln260His) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351173T>A | CA391933375 | SPRED1 | c.844T>A (p.Phe282Ile) c.880T>A (p.Phe294Ile) c.622T>A (p.Phe208Ile) c.781T>A (p.Phe261Ile) | |
15 | g.38351173T>C | CA391933376 | SPRED1 | c.844T>C (p.Phe282Leu) c.880T>C (p.Phe294Leu) c.622T>C (p.Phe208Leu) c.781T>C (p.Phe261Leu) | |
15 | g.38351173T>G | CA391933377 | SPRED1 | c.844T>G (p.Phe282Val) c.880T>G (p.Phe294Val) c.622T>G (p.Phe208Val) c.781T>G (p.Phe261Val) | |
15 | g.38351174T>A | CA391933378 | SPRED1 | c.845T>A (p.Phe282Tyr) c.881T>A (p.Phe294Tyr) c.623T>A (p.Phe208Tyr) c.782T>A (p.Phe261Tyr) | |
15 | g.38351174T>C | CA391933379 | SPRED1 | c.845T>C (p.Phe282Ser) c.881T>C (p.Phe294Ser) c.623T>C (p.Phe208Ser) c.782T>C (p.Phe261Ser) | |
15 | g.38351174T>G | CA391933380 | SPRED1 | c.845T>G (p.Phe282Cys) c.881T>G (p.Phe294Cys) c.623T>G (p.Phe208Cys) c.782T>G (p.Phe261Cys) | |
15 | g.38351175T>A | CA391933381 | SPRED1 | c.846T>A (p.Phe282Leu) c.882T>A (p.Phe294Leu) c.624T>A (p.Phe208Leu) c.783T>A (p.Phe261Leu) | |
15 | g.38351175T>C | CA490011844 | SPRED1 | c.846T>C (p.Phe282=) c.882T>C (p.Phe294=) c.624T>C (p.Phe208=) c.783T>C (p.Phe261=) | |
15 | g.38351175T>G | CA391933382 | SPRED1 | c.846T>G (p.Phe282Leu) c.882T>G (p.Phe294Leu) c.624T>G (p.Phe208Leu) c.783T>G (p.Phe261Leu) | |
15 | g.38351176T>A | CA391933383 | SPRED1 | c.847T>A (p.Ser283Thr) c.883T>A (p.Ser295Thr) c.625T>A (p.Ser209Thr) c.784T>A (p.Ser262Thr) | |
15 | g.38351176T>C | CA391933384 | SPRED1 | c.847T>C (p.Ser283Pro) c.883T>C (p.Ser295Pro) c.625T>C (p.Ser209Pro) c.784T>C (p.Ser262Pro) | |
15 | g.38351176T>G | CA391933385 | SPRED1 | c.847T>G (p.Ser283Ala) c.883T>G (p.Ser295Ala) c.625T>G (p.Ser209Ala) c.784T>G (p.Ser262Ala) | gnomAD v4 |
15 | g.38351177C>A | CA391933386 | SPRED1 | c.848C>A (p.Ser283Tyr) c.884C>A (p.Ser295Tyr) c.626C>A (p.Ser209Tyr) c.785C>A (p.Ser262Tyr) | |
15 | g.38351177C>G | CA391933387 | SPRED1 | c.848C>G (p.Ser283Cys) c.884C>G (p.Ser295Cys) c.626C>G (p.Ser209Cys) c.785C>G (p.Ser262Cys) | |
15 | g.38351177C>T | CA391933388 | SPRED1 | c.848C>T (p.Ser283Phe) c.884C>T (p.Ser295Phe) c.626C>T (p.Ser209Phe) c.785C>T (p.Ser262Phe) | |
15 | g.38351178T>A | CA490011849 | SPRED1 | c.849T>A (p.Ser283=) c.885T>A (p.Ser295=) c.627T>A (p.Ser209=) c.786T>A (p.Ser262=) | |
15 | g.38351178T>C | CA490011850 | SPRED1 | c.849T>C (p.Ser283=) c.885T>C (p.Ser295=) c.627T>C (p.Ser209=) c.786T>C (p.Ser262=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351178T>G | CA490011851 | SPRED1 | c.849T>G (p.Ser283=) c.885T>G (p.Ser295=) c.627T>G (p.Ser209=) c.786T>G (p.Ser262=) | dbSNP gnomAD v4 |
15 | g.38351178T= | CA2170812602 | SPRED1 | c.849T= (p.Ser283=) c.885T= (p.Ser295=) c.627T= (p.Ser209=) c.786T= (p.Ser262=) | |
15 | g.38351179A>C | CA391933391 | SPRED1 | c.850A>C (p.Lys284Gln) c.886A>C (p.Lys296Gln) c.628A>C (p.Lys210Gln) c.787A>C (p.Lys263Gln) | |
15 | g.38351179A>G | CA391933390 | SPRED1 | c.850A>G (p.Lys284Glu) c.886A>G (p.Lys296Glu) c.628A>G (p.Lys210Glu) c.787A>G (p.Lys263Glu) | |
15 | g.38351179A>T | CA391933389 | SPRED1 | c.850A>T (p.Lys284Ter) c.886A>T (p.Lys296Ter) c.628A>T (p.Lys210Ter) c.787A>T (p.Lys263Ter) | |
15 | g.38351180A>C | CA391933393 | SPRED1 | c.851A>C (p.Lys284Thr) c.887A>C (p.Lys296Thr) c.629A>C (p.Lys210Thr) c.788A>C (p.Lys263Thr) | |
15 | g.38351180A>G | CA391933392 | SPRED1 | c.851A>G (p.Lys284Arg) c.887A>G (p.Lys296Arg) c.629A>G (p.Lys210Arg) c.788A>G (p.Lys263Arg) | |
15 | g.38351180A>T | CA391933394 | SPRED1 | c.851A>T (p.Lys284Ile) c.887A>T (p.Lys296Ile) c.629A>T (p.Lys210Ile) c.788A>T (p.Lys263Ile) | |
15 | g.38351181A= | CA2170812603 | SPRED1 | c.852A= (p.Lys284=) c.888A= (p.Lys296=) c.630A= (p.Lys210=) c.789A= (p.Lys263=) | |
15 | g.38351181A>C | CA391933395 | SPRED1 | c.852A>C (p.Lys284Asn) c.888A>C (p.Lys296Asn) c.630A>C (p.Lys210Asn) c.789A>C (p.Lys263Asn) | dbSNP gnomAD v2 |
15 | g.38351181A>G | CA490011854 | SPRED1 | c.852A>G (p.Lys284=) c.888A>G (p.Lys296=) c.630A>G (p.Lys210=) c.789A>G (p.Lys263=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.38351181A>T | CA391933396 | SPRED1 | c.852A>T (p.Lys284Asn) c.888A>T (p.Lys296Asn) c.630A>T (p.Lys210Asn) c.789A>T (p.Lys263Asn) | |
15 | g.38351182C>A | CA391933397 | SPRED1 | c.853C>A (p.Pro285Thr) c.889C>A (p.Pro297Thr) c.631C>A (p.Pro211Thr) c.790C>A (p.Pro264Thr) | gnomAD v4 |
15 | g.38351182C>G | CA391933398 | SPRED1 | c.853C>G (p.Pro285Ala) c.889C>G (p.Pro297Ala) c.631C>G (p.Pro211Ala) c.790C>G (p.Pro264Ala) | |
15 | g.38351182C>T | CA391933399 | SPRED1 | c.853C>T (p.Pro285Ser) c.889C>T (p.Pro297Ser) c.631C>T (p.Pro211Ser) c.790C>T (p.Pro264Ser) | |
15 | g.38351183C>A | CA391933400 | SPRED1 | c.854C>A (p.Pro285Gln) c.890C>A (p.Pro297Gln) c.632C>A (p.Pro211Gln) c.791C>A (p.Pro264Gln) | |
15 | g.38351183C= | CA2170812604 | SPRED1 | c.854C= (p.Pro285=) c.890C= (p.Pro297=) c.632C= (p.Pro211=) c.791C= (p.Pro264=) | |
15 | g.38351183C>G | CA391933401 | SPRED1 | c.854C>G (p.Pro285Arg) c.890C>G (p.Pro297Arg) c.632C>G (p.Pro211Arg) c.791C>G (p.Pro264Arg) | |
15 | g.38351183C>T | CA269293448 | SPRED1 | c.854C>T (p.Pro285Leu) c.890C>T (p.Pro297Leu) c.632C>T (p.Pro211Leu) c.791C>T (p.Pro264Leu) | ClinVar dbSNP |
15 | g.38351184A>C | CA490011858 | SPRED1 | c.855A>C (p.Pro285=) c.891A>C (p.Pro297=) c.633A>C (p.Pro211=) c.792A>C (p.Pro264=) | |
15 | g.38351184A>G | CA490011859 | SPRED1 | c.855A>G (p.Pro285=) c.891A>G (p.Pro297=) c.633A>G (p.Pro211=) c.792A>G (p.Pro264=) | |
15 | g.38351184A>T | CA490011860 | SPRED1 | c.855A>T (p.Pro285=) c.891A>T (p.Pro297=) c.633A>T (p.Pro211=) c.792A>T (p.Pro264=) | |
15 | g.38351185G>A | CA391933402 | SPRED1 | c.856G>A (p.Asp286Asn) c.892G>A (p.Asp298Asn) c.634G>A (p.Asp212Asn) c.793G>A (p.Asp265Asn) | ClinVar dbSNP |
15 | g.38351185G>C | CA391933403 | SPRED1 | c.856G>C (p.Asp286His) c.892G>C (p.Asp298His) c.634G>C (p.Asp212His) c.793G>C (p.Asp265His) | gnomAD v4 |
15 | g.38351185G>T | CA391933404 | SPRED1 | c.856G>T (p.Asp286Tyr) c.892G>T (p.Asp298Tyr) c.634G>T (p.Asp212Tyr) c.793G>T (p.Asp265Tyr) | |
15 | g.38351186A>C | CA391933405 | SPRED1 | c.857A>C (p.Asp286Ala) c.893A>C (p.Asp298Ala) c.635A>C (p.Asp212Ala) c.794A>C (p.Asp265Ala) | |
15 | g.38351186A>G | CA391933406 | SPRED1 | c.857A>G (p.Asp286Gly) c.893A>G (p.Asp298Gly) c.635A>G (p.Asp212Gly) c.794A>G (p.Asp265Gly) | |
15 | g.38351186A>T | CA391933407 | SPRED1 | c.857A>T (p.Asp286Val) c.893A>T (p.Asp298Val) c.635A>T (p.Asp212Val) c.794A>T (p.Asp265Val) | |
15 | g.38351187C>A | CA391933408 | SPRED1 | c.858C>A (p.Asp286Glu) c.894C>A (p.Asp298Glu) c.636C>A (p.Asp212Glu) c.795C>A (p.Asp265Glu) | |
15 | g.38351187C= | CA2170812605 | SPRED1 | c.858C= (p.Asp286=) c.894C= (p.Asp298=) c.636C= (p.Asp212=) c.795C= (p.Asp265=) | |
15 | g.38351187C>G | CA391933409 | SPRED1 | c.858C>G (p.Asp286Glu) c.894C>G (p.Asp298Glu) c.636C>G (p.Asp212Glu) c.795C>G (p.Asp265Glu) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351187C>T | CA490011865 | SPRED1 | c.858C>T (p.Asp286=) c.894C>T (p.Asp298=) c.636C>T (p.Asp212=) c.795C>T (p.Asp265=) | |
15 | g.38351188A>C | CA391933410 | SPRED1 | c.859A>C (p.Ser287Arg) c.895A>C (p.Ser299Arg) c.637A>C (p.Ser213Arg) c.796A>C (p.Ser266Arg) | |
15 | g.38351188A>G | CA391933411 | SPRED1 | c.859A>G (p.Ser287Gly) c.895A>G (p.Ser299Gly) c.637A>G (p.Ser213Gly) c.796A>G (p.Ser266Gly) | gnomAD v4 |
15 | g.38351188A>T | CA391933412 | SPRED1 | c.859A>T (p.Ser287Cys) c.895A>T (p.Ser299Cys) c.637A>T (p.Ser213Cys) c.796A>T (p.Ser266Cys) | |
15 | g.38351189G>A | CA391933413 | SPRED1 | c.860G>A (p.Ser287Asn) c.896G>A (p.Ser299Asn) c.638G>A (p.Ser213Asn) c.797G>A (p.Ser266Asn) | ClinVar gnomAD v4 |
15 | g.38351189G>C | CA391933414 | SPRED1 | c.860G>C (p.Ser287Thr) c.896G>C (p.Ser299Thr) c.638G>C (p.Ser213Thr) c.797G>C (p.Ser266Thr) | |
15 | g.38351189G>T | CA391933415 | SPRED1 | c.860G>T (p.Ser287Ile) c.896G>T (p.Ser299Ile) c.638G>T (p.Ser213Ile) c.797G>T (p.Ser266Ile) | |
15 | g.38351190T>A | CA391933416 | SPRED1 | c.861T>A (p.Ser287Arg) c.897T>A (p.Ser299Arg) c.639T>A (p.Ser213Arg) c.798T>A (p.Ser266Arg) | |
15 | g.38351190T>C | CA490011870 | SPRED1 | c.861T>C (p.Ser287=) c.897T>C (p.Ser299=) c.639T>C (p.Ser213=) c.798T>C (p.Ser266=) | ClinVar gnomAD v4 |
15 | g.38351190T>G | CA391933417 | SPRED1 | c.861T>G (p.Ser287Arg) c.897T>G (p.Ser299Arg) c.639T>G (p.Ser213Arg) c.798T>G (p.Ser266Arg) | |
15 | g.38351190T= | CA2170812606 | SPRED1 | c.861T= (p.Ser287=) c.897T= (p.Ser299=) c.639T= (p.Ser213=) c.798T= (p.Ser266=) | |
15 | g.38351191A= | CA2170812607 | SPRED1 | c.862A= (p.Lys288=) c.898A= (p.Lys300=) c.640A= (p.Lys214=) c.799A= (p.Lys267=) | |
15 | g.38351191A>C | CA391933418 | SPRED1 | c.862A>C (p.Lys288Gln) c.898A>C (p.Lys300Gln) c.640A>C (p.Lys214Gln) c.799A>C (p.Lys267Gln) | |
15 | g.38351191A>G | CA391933419 | SPRED1 | c.862A>G (p.Lys288Glu) c.898A>G (p.Lys300Glu) c.640A>G (p.Lys214Glu) c.799A>G (p.Lys267Glu) | dbSNP gnomAD v4 |
15 | g.38351191A>T | CA391933420 | SPRED1 | c.862A>T (p.Lys288Ter) c.898A>T (p.Lys300Ter) c.640A>T (p.Lys214Ter) c.799A>T (p.Lys267Ter) | |
15 | g.38351196dup | CA617561332 | SPRED1 | c.867dup (p.Ser290IlefsTer10) c.903dup (p.Ser302IlefsTer10) c.645dup (p.Ser216IlefsTer10) c.804dup (p.Ser269IlefsTer10) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351192A>C | CA391933422 | SPRED1 | c.863A>C (p.Lys288Thr) c.899A>C (p.Lys300Thr) c.641A>C (p.Lys214Thr) c.800A>C (p.Lys267Thr) | gnomAD v4 COSMIC |
15 | g.38351192A>G | CA391933423 | SPRED1 | c.863A>G (p.Lys288Arg) c.899A>G (p.Lys300Arg) c.641A>G (p.Lys214Arg) c.800A>G (p.Lys267Arg) | |
15 | g.38351192A>T | CA391933421 | SPRED1 | c.863A>T (p.Lys288Ile) c.899A>T (p.Lys300Ile) c.641A>T (p.Lys214Ile) c.800A>T (p.Lys267Ile) | |
15 | g.38351193A= | CA2170812608 | SPRED1 | c.864A= (p.Lys288=) c.900A= (p.Lys300=) c.642A= (p.Lys214=) c.801A= (p.Lys267=) | |
15 | g.38351193A>C | CA7470192 | SPRED1 | c.864A>C (p.Lys288Asn) c.900A>C (p.Lys300Asn) c.642A>C (p.Lys214Asn) c.801A>C (p.Lys267Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38351193A>G | CA490011875 | SPRED1 | c.864A>G (p.Lys288=) c.900A>G (p.Lys300=) c.642A>G (p.Lys214=) c.801A>G (p.Lys267=) | |
15 | g.38351193A>T | CA391933424 | SPRED1 | c.864A>T (p.Lys288Asn) c.900A>T (p.Lys300Asn) c.642A>T (p.Lys214Asn) c.801A>T (p.Lys267Asn) | |
15 | g.38351194A>C | CA391933425 | SPRED1 | c.865A>C (p.Lys289Gln) c.901A>C (p.Lys301Gln) c.643A>C (p.Lys215Gln) c.802A>C (p.Lys268Gln) | |
15 | g.38351194A>G | CA391933426 | SPRED1 | c.865A>G (p.Lys289Glu) c.901A>G (p.Lys301Glu) c.643A>G (p.Lys215Glu) c.802A>G (p.Lys268Glu) | |
15 | g.38351194A>T | CA391933427 | SPRED1 | c.865A>T (p.Lys289Ter) c.901A>T (p.Lys301Ter) c.643A>T (p.Lys215Ter) c.802A>T (p.Lys268Ter) | |
15 | g.38351194_38351203delinsAAATCAGACT | CA2170812609 | SPRED1 | c.865_874delinsAAATCAGACT (p.Lys289=) c.901_910delinsAAATCAGACT (p.Lys301=) c.643_652delinsAAATCAGACT (p.Lys215=) c.802_811delinsAAATCAGACT (p.Lys268=) | |
15 | g.38351195A= | CA2170812610 | SPRED1 | c.866A= (p.Lys289=) c.902A= (p.Lys301=) c.644A= (p.Lys215=) c.803A= (p.Lys268=) | |
15 | g.38351195A>C | CA7470194 | SPRED1 | c.866A>C (p.Lys289Thr) c.902A>C (p.Lys301Thr) c.644A>C (p.Lys215Thr) c.803A>C (p.Lys268Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351195A>G | CA391933428 | SPRED1 | c.866A>G (p.Lys289Arg) c.902A>G (p.Lys301Arg) c.644A>G (p.Lys215Arg) c.803A>G (p.Lys268Arg) | |
15 | g.38351195A>T | CA391933429 | SPRED1 | c.866A>T (p.Lys289Ile) c.902A>T (p.Lys301Ile) c.644A>T (p.Lys215Ile) c.803A>T (p.Lys268Ile) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.38351196_38351204del | CA7470193 | SPRED1 | c.867_875del (p.Lys289_Tyr292delinsAsn) c.903_911del (p.Lys301_Tyr304delinsAsn) c.645_653del (p.Lys215_Tyr218delinsAsn) c.804_812del (p.Lys268_Tyr271delinsAsn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.38351196A= | CA2170812611 | SPRED1 | c.867A= (p.Lys289=) c.903A= (p.Lys301=) c.645A= (p.Lys215=) c.804A= (p.Lys268=) | |
15 | g.38351196A>C | CA391933430 | SPRED1 | c.867A>C (p.Lys289Asn) c.903A>C (p.Lys301Asn) c.645A>C (p.Lys215Asn) c.804A>C (p.Lys268Asn) | |
15 | g.38351196A>G | CA490011880 | SPRED1 | c.867A>G (p.Lys289=) c.903A>G (p.Lys301=) c.645A>G (p.Lys215=) c.804A>G (p.Lys268=) | |
15 | g.38351196A>T | CA391933431 | SPRED1 | c.867A>T (p.Lys289Asn) c.903A>T (p.Lys301Asn) c.645A>T (p.Lys215Asn) c.804A>T (p.Lys268Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.38351197T>A | CA391933433 | SPRED1 | c.868T>A (p.Ser290Thr) c.904T>A (p.Ser302Thr) c.646T>A (p.Ser216Thr) c.805T>A (p.Ser269Thr) | |
15 | g.38351197T>C | CA391933434 | SPRED1 | c.868T>C (p.Ser290Pro) c.904T>C (p.Ser302Pro) c.646T>C (p.Ser216Pro) c.805T>C (p.Ser269Pro) | |
15 | g.38351197T>G | CA391933432 | SPRED1 | c.868T>G (p.Ser290Ala) c.904T>G (p.Ser302Ala) c.646T>G (p.Ser216Ala) c.805T>G (p.Ser269Ala) | |
15 | g.38351198C>A | CA391933435 | SPRED1 | c.869C>A (p.Ser290Ter) c.905C>A (p.Ser302Ter) c.647C>A (p.Ser216Ter) c.806C>A (p.Ser269Ter) | |
15 | g.38351198C>G | CA391933436 | SPRED1 | c.869C>G (p.Ser290Ter) c.905C>G (p.Ser302Ter) c.647C>G (p.Ser216Ter) c.806C>G (p.Ser269Ter) | |
15 | g.38351198C>T | CA391933437 | SPRED1 | c.869C>T (p.Ser290Leu) c.905C>T (p.Ser302Leu) c.647C>T (p.Ser216Leu) c.806C>T (p.Ser269Leu) | |
15 | g.38351199A>C | CA490011888 | SPRED1 | c.870A>C (p.Ser290=) c.906A>C (p.Ser302=) c.648A>C (p.Ser216=) c.807A>C (p.Ser269=) | |
15 | g.38351199A>G | CA490011890 | SPRED1 | c.870A>G (p.Ser290=) c.906A>G (p.Ser302=) c.648A>G (p.Ser216=) c.807A>G (p.Ser269=) | |
15 | g.38351199A>T | CA490011893 | SPRED1 | c.870A>T (p.Ser290=) c.906A>T (p.Ser302=) c.648A>T (p.Ser216=) c.807A>T (p.Ser269=) | |
15 | g.38351200G>A | CA391933438 | SPRED1 | c.871G>A (p.Asp291Asn) c.907G>A (p.Asp303Asn) c.649G>A (p.Asp217Asn) c.808G>A (p.Asp270Asn) | |
15 | g.38351200G>C | CA391933439 | SPRED1 | c.871G>C (p.Asp291His) c.907G>C (p.Asp303His) c.649G>C (p.Asp217His) c.808G>C (p.Asp270His) | |
15 | g.38351200G>T | CA391933440 | SPRED1 | c.871G>T (p.Asp291Tyr) c.907G>T (p.Asp303Tyr) c.649G>T (p.Asp217Tyr) c.808G>T (p.Asp270Tyr) |