Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.137199251_137199268dupCA5362731TPRNc.1444_1461dup (p.Pro487_Gly488insLeuHisProAlaArgPro)
c.838_855dup (p.Pro285_Gly286insLeuHisProAlaArgPro)
n.90+4836_90+4853dup
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137199251_137199269delinsGGGCCTGGCAGGGTGCAGACA1884351102TPRNc.1443_1461delinsTCTGCACCCTGCCAGGCCC (p.Pro481=)
c.837_855delinsTCTGCACCCTGCCAGGCCC (p.Pro279=)
n.90+4835_90+4853delinsTCTGCACCCTGCCAGGCCC
9g.137199267_137199284dupCA591373023TPRNc.1443_1460dup (p.Pro487_Gly488insLeuHisProAlaArgPro)
c.837_854dup (p.Pro285_Gly286insLeuHisProAlaArgPro)
n.90+4835_90+4852dup
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137199267_137199284delCA5362732TPRNc.1443_1460del (p.Leu482_Pro487del)
c.837_854del (p.Leu280_Pro285del)
n.90+4835_90+4852del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137199256T>ACA375775687TPRNc.1456A>T (p.Arg486Trp)
c.850A>T (p.Arg284Trp)
n.90+4848A>T
9g.137199256T>CCA375775688TPRNc.1456A>G (p.Arg486Gly)
c.850A>G (p.Arg284Gly)
n.90+4848A>G
9g.137199256T>GCA467853117TPRNc.1456A>C (p.Arg486=)
c.850A>C (p.Arg284=)
n.90+4848A>C
9g.137199257G>ACA467853120TPRNc.1455C>T (p.Ala485=)
c.849C>T (p.Ala283=)
n.90+4847C>T
9g.137199257G>CCA467853118TPRNc.1455C>G (p.Ala485=)
c.849C>G (p.Ala283=)
n.90+4847C>G
9g.137199257G>TCA467853119TPRNc.1455C>A (p.Ala485=)
c.849C>A (p.Ala283=)
n.90+4847C>A
9g.137199258G>ACA375775689TPRNc.1454C>T (p.Ala485Val)
c.848C>T (p.Ala283Val)
n.90+4846C>T
9g.137199258G>CCA375775690TPRNc.1454C>G (p.Ala485Gly)
c.848C>G (p.Ala283Gly)
n.90+4846C>G
9g.137199258G>TCA375775692TPRNc.1454C>A (p.Ala485Asp)
c.848C>A (p.Ala283Asp)
n.90+4846C>A
9g.137199259C>ACA375775699TPRNc.1453G>T (p.Ala485Ser)
c.847G>T (p.Ala283Ser)
n.90+4845G>T
9g.137199259C>GCA375775696TPRNc.1453G>C (p.Ala485Pro)
c.847G>C (p.Ala283Pro)
n.90+4845G>C
9g.137199259C>TCA375775698TPRNc.1453G>A (p.Ala485Thr)
c.847G>A (p.Ala283Thr)
n.90+4845G>A
9g.137199260A>CCA467853123TPRNc.1452T>G (p.Pro484=)
c.846T>G (p.Pro282=)
n.90+4844T>G
9g.137199260A>GCA467853122TPRNc.1452T>C (p.Pro484=)
c.846T>C (p.Pro282=)
n.90+4844T>C
9g.137199260A>TCA467853121TPRNc.1452T>A (p.Pro484=)
c.846T>A (p.Pro282=)
n.90+4844T>A
9g.137199261G>ACA375775703TPRNc.1451C>T (p.Pro484Leu)
c.845C>T (p.Pro282Leu)
n.90+4843C>T
9g.137199261G>CCA375775706TPRNc.1451C>G (p.Pro484Arg)
c.845C>G (p.Pro282Arg)
n.90+4843C>G
9g.137199261G>TCA375775716TPRNc.1451C>A (p.Pro484His)
c.845C>A (p.Pro282His)
n.90+4843C>A
9g.137199262G>ACA375775719TPRNc.1450C>T (p.Pro484Ser)
c.844C>T (p.Pro282Ser)
n.90+4842C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137199262G>CCA375775721TPRNc.1450C>G (p.Pro484Ala)
c.844C>G (p.Pro282Ala)
n.90+4842C>G
9g.137199262G=CA1884351107TPRNc.1450C= (p.Pro484=)
c.844C= (p.Pro282=)
n.90+4842C=
9g.137199262G>TCA375775722TPRNc.1450C>A (p.Pro484Thr)
c.844C>A (p.Pro282Thr)
n.90+4842C>A
 dbSNP gnomAD v3 gnomAD v4
9g.137199263G>ACA467853124TPRNc.1449C>T (p.His483=)
c.843C>T (p.His281=)
n.90+4841C>T
9g.137199263G>CCA375775726TPRNc.1449C>G (p.His483Gln)
c.843C>G (p.His281Gln)
n.90+4841C>G
9g.137199263G>TCA375775723TPRNc.1449C>A (p.His483Gln)
c.843C>A (p.His281Gln)
n.90+4841C>A
9g.137199264T>ACA375775729TPRNc.1448A>T (p.His483Leu)
c.842A>T (p.His281Leu)
n.90+4840A>T
9g.137199264T>CCA375775730TPRNc.1448A>G (p.His483Arg)
c.842A>G (p.His281Arg)
n.90+4840A>G
9g.137199264T>GCA375775733TPRNc.1448A>C (p.His483Pro)
c.842A>C (p.His281Pro)
n.90+4840A>C
9g.137199265G>ACA375775743TPRNc.1447C>T (p.His483Tyr)
c.841C>T (p.His281Tyr)
n.90+4839C>T
 dbSNP
9g.137199265G>CCA375775745TPRNc.1447C>G (p.His483Asp)
c.841C>G (p.His281Asp)
n.90+4839C>G
9g.137199265G=CA1884351108TPRNc.1447C= (p.His483=)
c.841C= (p.His281=)
n.90+4839C=
9g.137199265G>TCA5362733TPRNc.1447C>A (p.His483Asn)
c.841C>A (p.His281Asn)
n.90+4839C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137199266C>ACA467853125TPRNc.1446G>T (p.Leu482=)
c.840G>T (p.Leu280=)
n.90+4838G>T
9g.137199266C=CA1884351109TPRNc.1446G= (p.Leu482=)
c.840G= (p.Leu280=)
n.90+4838G=
9g.137199266C>GCA467853126TPRNc.1446G>C (p.Leu482=)
c.840G>C (p.Leu280=)
n.90+4838G>C
9g.137199266C>TCA467853127TPRNc.1446G>A (p.Leu482=)
c.840G>A (p.Leu280=)
n.90+4838G>A
 dbSNP gnomAD v2 gnomAD v4
9g.137199267A>CCA375775764TPRNc.1445T>G (p.Leu482Arg)
c.839T>G (p.Leu280Arg)
n.90+4837T>G
9g.137199267A>GCA375775775TPRNc.1445T>C (p.Leu482Pro)
c.839T>C (p.Leu280Pro)
n.90+4837T>C
9g.137199267A>TCA375775774TPRNc.1445T>A (p.Leu482Gln)
c.839T>A (p.Leu280Gln)
n.90+4837T>A
9g.137199268G>ACA467853128TPRNc.1444C>T (p.Leu482=)
c.838C>T (p.Leu280=)
n.90+4836C>T
9g.137199268G>CCA201720996TPRNc.1444C>G (p.Leu482Val)
c.838C>G (p.Leu280Val)
n.90+4836C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137199268G=CA1884351110TPRNc.1444C= (p.Leu482=)
c.838C= (p.Leu280=)
n.90+4836C=
9g.137199268G>TCA375775776TPRNc.1444C>A (p.Leu482Met)
c.838C>A (p.Leu280Met)
n.90+4836C>A
9g.137199269A=CA1884351111TPRNc.1443T= (p.Pro481=)
c.837T= (p.Pro279=)
n.90+4835T=
9g.137199269A>CCA467853129TPRNc.1443T>G (p.Pro481=)
c.837T>G (p.Pro279=)
n.90+4835T>G
9g.137199269A>GCA5362734TPRNc.1443T>C (p.Pro481=)
c.837T>C (p.Pro279=)
n.90+4835T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137199269A>TCA467853130TPRNc.1443T>A (p.Pro481=)
c.837T>A (p.Pro279=)
n.90+4835T>A
9g.137199270G>ACA375775777TPRNc.1442C>T (p.Pro481Leu)
c.836C>T (p.Pro279Leu)
n.90+4834C>T
 dbSNP gnomAD v3 gnomAD v4
9g.137199270G>CCA375775786TPRNc.1442C>G (p.Pro481Arg)
c.836C>G (p.Pro279Arg)
n.90+4834C>G
9g.137199270G=CA1884351112TPRNc.1442C= (p.Pro481=)
c.836C= (p.Pro279=)
n.90+4834C=
9g.137199270G>TCA375775788TPRNc.1442C>A (p.Pro481His)
c.836C>A (p.Pro279His)
n.90+4834C>A
9g.137199271G>ACA375775790TPRNc.1441C>T (p.Pro481Ser)
c.835C>T (p.Pro279Ser)
n.90+4833C>T
9g.137199271G>CCA375775797TPRNc.1441C>G (p.Pro481Ala)
c.835C>G (p.Pro279Ala)
n.90+4833C>G
9g.137199271G=CA1884351113TPRNc.1441C= (p.Pro481=)
c.835C= (p.Pro279=)
n.90+4833C=
9g.137199271G>TCA375775799TPRNc.1441C>A (p.Pro481Thr)
c.835C>A (p.Pro279Thr)
n.90+4833C>A
 dbSNP
9g.137199272C>ACA375775800TPRNc.1440G>T (p.Arg480Ser)
c.834G>T (p.Arg278Ser)
n.90+4832G>T
9g.137199272C>GCA375775801TPRNc.1440G>C (p.Arg480Ser)
c.834G>C (p.Arg278Ser)
n.90+4832G>C
9g.137199272C>TCA467853131TPRNc.1440G>A (p.Arg480=)
c.834G>A (p.Arg278=)
n.90+4832G>A
9g.137199273C>ACA375775802TPRNc.1439G>T (p.Arg480Met)
c.833G>T (p.Arg278Met)
n.90+4831G>T
9g.137199273C>GCA375775804TPRNc.1439G>C (p.Arg480Thr)
c.833G>C (p.Arg278Thr)
n.90+4831G>C
9g.137199273C>TCA375775803TPRNc.1439G>A (p.Arg480Lys)
c.833G>A (p.Arg278Lys)
n.90+4831G>A
9g.137199274T>ACA375775806TPRNc.1438A>T (p.Arg480Trp)
c.832A>T (p.Arg278Trp)
n.90+4830A>T
 dbSNP gnomAD v2 gnomAD v4
9g.137199274T>CCA375775808TPRNc.1438A>G (p.Arg480Gly)
c.832A>G (p.Arg278Gly)
n.90+4830A>G
 gnomAD v4
9g.137199274T>GCA467853132TPRNc.1438A>C (p.Arg480=)
c.832A>C (p.Arg278=)
n.90+4830A>C
9g.137199274T=CA1884351114TPRNc.1438A= (p.Arg480=)
c.832A= (p.Arg278=)
n.90+4830A=
9g.137199275G>ACA467853134TPRNc.1437C>T (p.Ala479=)
c.831C>T (p.Ala277=)
n.90+4829C>T
9g.137199275G>CCA5362735TPRNc.1437C>G (p.Ala479=)
c.831C>G (p.Ala277=)
n.90+4829C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137199275G=CA1884351115TPRNc.1437C= (p.Ala479=)
c.831C= (p.Ala277=)
n.90+4829C=
9g.137199275G>TCA467853133TPRNc.1437C>A (p.Ala479=)
c.831C>A (p.Ala277=)
n.90+4829C>A
9g.137199276G>ACA375775813TPRNc.1436C>T (p.Ala479Val)
c.830C>T (p.Ala277Val)
n.90+4828C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137199276G>CCA375775820TPRNc.1436C>G (p.Ala479Gly)
c.830C>G (p.Ala277Gly)
n.90+4828C>G
 gnomAD v4
9g.137199276G=CA1884351116TPRNc.1436C= (p.Ala479=)
c.830C= (p.Ala277=)
n.90+4828C=
9g.137199276G>TCA375775830TPRNc.1436C>A (p.Ala479Asp)
c.830C>A (p.Ala277Asp)
n.90+4828C>A
9g.137199277C>ACA375775839TPRNc.1435G>T (p.Ala479Ser)
c.829G>T (p.Ala277Ser)
n.90+4827G>T
9g.137199277C>GCA375775836TPRNc.1435G>C (p.Ala479Pro)
c.829G>C (p.Ala277Pro)
n.90+4827G>C
9g.137199277C>TCA375775834TPRNc.1435G>A (p.Ala479Thr)
c.829G>A (p.Ala277Thr)
n.90+4827G>A
 gnomAD v4
9g.137199278A=CA1884351117TPRNc.1434T= (p.Pro478=)
c.828T= (p.Pro276=)
n.90+4826T=
9g.137199278A>CCA467853137TPRNc.1434T>G (p.Pro478=)
c.828T>G (p.Pro276=)
n.90+4826T>G
9g.137199278A>GCA467853135TPRNc.1434T>C (p.Pro478=)
c.828T>C (p.Pro276=)
n.90+4826T>C
 dbSNP
9g.137199278A>TCA467853136TPRNc.1434T>A (p.Pro478=)
c.828T>A (p.Pro276=)
n.90+4826T>A
9g.137199279G>ACA5362736TPRNc.1433C>T (p.Pro478Leu)
c.827C>T (p.Pro276Leu)
n.90+4825C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137199279G>CCA375775844TPRNc.1433C>G (p.Pro478Arg)
c.827C>G (p.Pro276Arg)
n.90+4825C>G
9g.137199279G=CA1884351118TPRNc.1433C= (p.Pro478=)
c.827C= (p.Pro276=)
n.90+4825C=
9g.137199279G>TCA375775846TPRNc.1433C>A (p.Pro478His)
c.827C>A (p.Pro276His)
n.90+4825C>A
9g.137199280G>ACA375775852TPRNc.1432C>T (p.Pro478Ser)
c.826C>T (p.Pro276Ser)
n.90+4824C>T
9g.137199280G>CCA375775856TPRNc.1432C>G (p.Pro478Ala)
c.826C>G (p.Pro276Ala)
n.90+4824C>G
9g.137199280G>TCA375775865TPRNc.1432C>A (p.Pro478Thr)
c.826C>A (p.Pro276Thr)
n.90+4824C>A
9g.137199281G>ACA5362737TPRNc.1431C>T (p.His477=)
c.825C>T (p.His275=)
n.90+4823C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137199281G>CCA375775887TPRNc.1431C>G (p.His477Gln)
c.825C>G (p.His275Gln)
n.90+4823C>G
9g.137199281G=CA1884351119TPRNc.1431C= (p.His477=)
c.825C= (p.His275=)
n.90+4823C=
9g.137199281G>TCA375775876TPRNc.1431C>A (p.His477Gln)
c.825C>A (p.His275Gln)
n.90+4823C>A
 gnomAD v4
9g.137199282T>ACA375775897TPRNc.1430A>T (p.His477Leu)
c.824A>T (p.His275Leu)
n.90+4822A>T
9g.137199282T>CCA375775899TPRNc.1430A>G (p.His477Arg)
c.824A>G (p.His275Arg)
n.90+4822A>G
 gnomAD v4
9g.137199282T>GCA375775901TPRNc.1430A>C (p.His477Pro)
c.824A>C (p.His275Pro)
n.90+4822A>C
9g.137199283G>ACA375775904TPRNc.1429C>T (p.His477Tyr)
c.823C>T (p.His275Tyr)
n.90+4821C>T
9g.137199283G>CCA375775905TPRNc.1429C>G (p.His477Asp)
c.823C>G (p.His275Asp)
n.90+4821C>G
9g.137199283G>TCA375775907TPRNc.1429C>A (p.His477Asn)
c.823C>A (p.His275Asn)
n.90+4821C>A
9g.137199283_137199284insACA2692798197TPRNc.1428_1429insT (p.His477SerfsTer?)
c.822_823insT (p.His275SerfsTer?)
n.90+4820_90+4821insT
 gnomAD v4
9g.137199284C>ACA467853139TPRNc.1428G>T (p.Pro476=)
c.822G>T (p.Pro274=)
n.90+4820G>T
 gnomAD v4
9g.137199284C=CA1884351120TPRNc.1428G= (p.Pro476=)
c.822G= (p.Pro274=)
n.90+4820G=
9g.137199284C>GCA467853138TPRNc.1428G>C (p.Pro476=)
c.822G>C (p.Pro274=)
n.90+4820G>C
 gnomAD v4
9g.137199284C>TCA5362738TPRNc.1428G>A (p.Pro476=)
c.822G>A (p.Pro274=)
n.90+4820G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137199284_137199285delinsCGCA1884351121TPRNc.1427_1428delinsCG (p.Pro476=)
c.821_822delinsCG (p.Pro274=)
n.90+4819_90+4820delinsCG
9g.137199285G>ACA5362739TPRNc.1427C>T (p.Pro476Leu)
c.821C>T (p.Pro274Leu)
n.90+4819C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137199285G>CCA375775918TPRNc.1427C>G (p.Pro476Arg)
c.821C>G (p.Pro274Arg)
n.90+4819C>G
9g.137199285G=CA1884351122TPRNc.1427C= (p.Pro476=)
c.821C= (p.Pro274=)
n.90+4819C=
9g.137199285G>TCA375775921TPRNc.1427C>A (p.Pro476Gln)
c.821C>A (p.Pro274Gln)
n.90+4819C>A
9g.137199287delCA113908TPRNc.1427del (p.Pro476ArgfsTer?)
c.821del (p.Pro274ArgfsTer?)
n.90+4819del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.137199286G>ACA375775925TPRNc.1426C>T (p.Pro476Ser)
c.820C>T (p.Pro274Ser)
n.90+4818C>T
9g.137199286G>CCA375775937TPRNc.1426C>G (p.Pro476Ala)
c.820C>G (p.Pro274Ala)
n.90+4818C>G
9g.137199286G>TCA375775930TPRNc.1426C>A (p.Pro476Thr)
c.820C>A (p.Pro274Thr)
n.90+4818C>A
9g.137199287G>ACA467853142TPRNc.1425C>T (p.Leu475=)
c.819C>T (p.Leu273=)
n.90+4817C>T
 gnomAD v4
9g.137199287G>CCA467853141TPRNc.1425C>G (p.Leu475=)
c.819C>G (p.Leu273=)
n.90+4817C>G
9g.137199287G>TCA467853140TPRNc.1425C>A (p.Leu475=)
c.819C>A (p.Leu273=)
n.90+4817C>A
9g.137199288A=CA1884351123TPRNc.1424T= (p.Leu475=)
c.818T= (p.Leu273=)
n.90+4816T=
9g.137199288A>CCA375775947TPRNc.1424T>G (p.Leu475Arg)
c.818T>G (p.Leu273Arg)
n.90+4816T>G
9g.137199288A>GCA375775951TPRNc.1424T>C (p.Leu475Pro)
c.818T>C (p.Leu273Pro)
n.90+4816T>C
 ClinVar dbSNP
9g.137199288A>TCA375775953TPRNc.1424T>A (p.Leu475His)
c.818T>A (p.Leu273His)
n.90+4816T>A
9g.137199289G>ACA5362740TPRNc.1423C>T (p.Leu475Phe)
c.817C>T (p.Leu273Phe)
n.90+4815C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137199289G>CCA201721021TPRNc.1423C>G (p.Leu475Val)
c.817C>G (p.Leu273Val)
n.90+4815C>G
 dbSNP gnomAD v4
9g.137199289G=CA1884351124TPRNc.1423C= (p.Leu475=)
c.817C= (p.Leu273=)
n.90+4815C=
9g.137199289G>TCA375775964TPRNc.1423C>A (p.Leu475Ile)
c.817C>A (p.Leu273Ile)
n.90+4815C>A
9g.137199290G>ACA467853143TPRNc.1422C>T (p.Tyr474=)
c.816C>T (p.Tyr272=)
n.90+4814C>T
 gnomAD v4
9g.137199290G>CCA375775966TPRNc.1422C>G (p.Tyr474Ter)
c.816C>G (p.Tyr272Ter)
n.90+4814C>G
9g.137199290G>TCA375775978TPRNc.1422C>A (p.Tyr474Ter)
c.816C>A (p.Tyr272Ter)
n.90+4814C>A
9g.137199291T>ACA375776002TPRNc.1421A>T (p.Tyr474Phe)
c.815A>T (p.Tyr272Phe)
n.90+4813A>T
9g.137199291T>CCA375776005TPRNc.1421A>G (p.Tyr474Cys)
c.815A>G (p.Tyr272Cys)
n.90+4813A>G
9g.137199291T>GCA375776006TPRNc.1421A>C (p.Tyr474Ser)
c.815A>C (p.Tyr272Ser)
n.90+4813A>C
9g.137199292A>CCA375776009TPRNc.1420T>G (p.Tyr474Asp)
c.814T>G (p.Tyr272Asp)
n.90+4812T>G
9g.137199292A>GCA375776008TPRNc.1420T>C (p.Tyr474His)
c.814T>C (p.Tyr272His)
n.90+4812T>C
9g.137199292A>TCA375776007TPRNc.1420T>A (p.Tyr474Asn)
c.814T>A (p.Tyr272Asn)
n.90+4812T>A
9g.137199293G>ACA467853144TPRNc.1419C>T (p.Pro473=)
c.813C>T (p.Pro271=)
n.90+4811C>T
 gnomAD v4
9g.137199293G>CCA467853145TPRNc.1419C>G (p.Pro473=)
c.813C>G (p.Pro271=)
n.90+4811C>G
 dbSNP gnomAD v3 gnomAD v4
9g.137199293G=CA1884351125TPRNc.1419C= (p.Pro473=)
c.813C= (p.Pro271=)
n.90+4811C=
9g.137199293G>TCA467853146TPRNc.1419C>A (p.Pro473=)
c.813C>A (p.Pro271=)
n.90+4811C>A
9g.137199294G>ACA5362741TPRNc.1418C>T (p.Pro473Leu)
c.812C>T (p.Pro271Leu)
n.90+4810C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137199294G>CCA375776012TPRNc.1418C>G (p.Pro473Arg)
c.812C>G (p.Pro271Arg)
n.90+4810C>G
9g.137199294G=CA1884351126TPRNc.1418C= (p.Pro473=)
c.812C= (p.Pro271=)
n.90+4810C=
9g.137199294G>TCA375776014TPRNc.1418C>A (p.Pro473His)
c.812C>A (p.Pro271His)
n.90+4810C>A
9g.137199295G>ACA5362742TPRNc.1417C>T (p.Pro473Ser)
c.811C>T (p.Pro271Ser)
n.90+4809C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.137199295G>CCA375776018TPRNc.1417C>G (p.Pro473Ala)
c.811C>G (p.Pro271Ala)
n.90+4809C>G
9g.137199295G=CA1884351127TPRNc.1417C= (p.Pro473=)
c.811C= (p.Pro271=)
n.90+4809C=
9g.137199295G>TCA375776022TPRNc.1417C>A (p.Pro473Thr)
c.811C>A (p.Pro271Thr)
n.90+4809C>A
9g.137199296T>ACA5362743TPRNc.1416A>T (p.Leu472=)
c.810A>T (p.Leu270=)
n.90+4808A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137199296T>CCA5362744TPRNc.1416A>G (p.Leu472=)
c.810A>G (p.Leu270=)
n.90+4808A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137199296T>GCA467853147TPRNc.1416A>C (p.Leu472=)
c.810A>C (p.Leu270=)
n.90+4808A>C
9g.137199296T=CA1884351128TPRNc.1416A= (p.Leu472=)
c.810A= (p.Leu270=)
n.90+4808A=
9g.137199297A>CCA375776023TPRNc.1415T>G (p.Leu472Arg)
c.809T>G (p.Leu270Arg)
n.90+4807T>G
9g.137199297A>GCA375776024TPRNc.1415T>C (p.Leu472Pro)
c.809T>C (p.Leu270Pro)
n.90+4807T>C
9g.137199297A>TCA375776026TPRNc.1415T>A (p.Leu472Gln)
c.809T>A (p.Leu270Gln)
n.90+4807T>A
9g.137199298G>ACA467853148TPRNc.1414C>T (p.Leu472=)
c.808C>T (p.Leu270=)
n.90+4806C>T
9g.137199298G>CCA375776028TPRNc.1414C>G (p.Leu472Val)
c.808C>G (p.Leu270Val)
n.90+4806C>G
9g.137199298G>TCA375776031TPRNc.1414C>A (p.Leu472Ile)
c.808C>A (p.Leu270Ile)
n.90+4806C>A
9g.137199299T>ACA375776032TPRNc.1413A>T (p.Lys471Asn)
c.807A>T (p.Lys269Asn)
n.90+4805A>T
9g.137199299T>CCA467853149TPRNc.1413A>G (p.Lys471=)
c.807A>G (p.Lys269=)
n.90+4805A>G
9g.137199299T>GCA375776033TPRNc.1413A>C (p.Lys471Asn)
c.807A>C (p.Lys269Asn)
n.90+4805A>C
9g.137199300T>ACA375776034TPRNc.1412A>T (p.Lys471Ile)
c.806A>T (p.Lys269Ile)
n.90+4804A>T
9g.137199300T>CCA375776038TPRNc.1412A>G (p.Lys471Arg)
c.806A>G (p.Lys269Arg)
n.90+4804A>G
9g.137199300T>GCA375776035TPRNc.1412A>C (p.Lys471Thr)
c.806A>C (p.Lys269Thr)
n.90+4804A>C
 dbSNP
9g.137199300T=CA1884351129TPRNc.1412A= (p.Lys471=)
c.806A= (p.Lys269=)
n.90+4804A=
9g.137199301T>ACA375776040TPRNc.1411A>T (p.Lys471Ter)
c.805A>T (p.Lys269Ter)
n.90+4803A>T
9g.137199301T>CCA375776046TPRNc.1411A>G (p.Lys471Glu)
c.805A>G (p.Lys269Glu)
n.90+4803A>G
9g.137199301T>GCA375776042TPRNc.1411A>C (p.Lys471Gln)
c.805A>C (p.Lys269Gln)
n.90+4803A>C
9g.137199302G>ACA467853150TPRNc.1410C>T (p.Ala470=)
c.804C>T (p.Ala268=)
n.90+4802C>T
9g.137199302G>CCA467853151TPRNc.1410C>G (p.Ala470=)
c.804C>G (p.Ala268=)
n.90+4802C>G
9g.137199302G>TCA467853152TPRNc.1410C>A (p.Ala470=)
c.804C>A (p.Ala268=)
n.90+4802C>A
9g.137199303G>ACA375776051TPRNc.1409C>T (p.Ala470Val)
c.803C>T (p.Ala268Val)
n.90+4801C>T
9g.137199303G>CCA375776059TPRNc.1409C>G (p.Ala470Gly)
c.803C>G (p.Ala268Gly)
n.90+4801C>G
9g.137199303G>TCA375776056TPRNc.1409C>A (p.Ala470Asp)
c.803C>A (p.Ala268Asp)
n.90+4801C>A
 gnomAD v4
9g.137199304C>ACA375776061TPRNc.1408G>T (p.Ala470Ser)
c.802G>T (p.Ala268Ser)
n.90+4800G>T
9g.137199304C>GCA375776066TPRNc.1408G>C (p.Ala470Pro)
c.802G>C (p.Ala268Pro)
n.90+4800G>C
9g.137199304C>TCA375776063TPRNc.1408G>A (p.Ala470Thr)
c.802G>A (p.Ala268Thr)
n.90+4800G>A
9g.137199305T>ACA467853153TPRNc.1407A>T (p.Ala469=)
c.801A>T (p.Ala267=)
n.90+4799A>T
9g.137199305T>CCA467853155TPRNc.1407A>G (p.Ala469=)
c.801A>G (p.Ala267=)
n.90+4799A>G
 gnomAD v4
9g.137199305T>GCA467853154TPRNc.1407A>C (p.Ala469=)
c.801A>C (p.Ala267=)
n.90+4799A>C
9g.137199306G>ACA375776075TPRNc.1406C>T (p.Ala469Val)
c.800C>T (p.Ala267Val)
n.90+4798C>T
 gnomAD v4
9g.137199306G>CCA375776079TPRNc.1406C>G (p.Ala469Gly)
c.800C>G (p.Ala267Gly)
n.90+4798C>G
9g.137199306G>TCA375776080TPRNc.1406C>A (p.Ala469Glu)
c.800C>A (p.Ala267Glu)
n.90+4798C>A
9g.137199307C>ACA375776083TPRNc.1405G>T (p.Ala469Ser)
c.799G>T (p.Ala267Ser)
n.90+4797G>T
9g.137199307C>GCA375776086TPRNc.1405G>C (p.Ala469Pro)
c.799G>C (p.Ala267Pro)
n.90+4797G>C
9g.137199307C>TCA375776088TPRNc.1405G>A (p.Ala469Thr)
c.799G>A (p.Ala267Thr)
n.90+4797G>A
9g.137199308T>ACA375776092TPRNc.1404A>T (p.Gln468His)
c.798A>T (p.Gln266His)
n.90+4796A>T
9g.137199308T>CCA5362745TPRNc.1404A>G (p.Gln468=)
c.798A>G (p.Gln266=)
n.90+4796A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137199308T>GCA375776103TPRNc.1404A>C (p.Gln468His)
c.798A>C (p.Gln266His)
n.90+4796A>C
9g.137199308T=CA1884351130TPRNc.1404A= (p.Gln468=)
c.798A= (p.Gln266=)
n.90+4796A=
9g.137199309T>ACA375776106TPRNc.1403A>T (p.Gln468Leu)
c.797A>T (p.Gln266Leu)
n.90+4795A>T
9g.137199309T>CCA375776122TPRNc.1403A>G (p.Gln468Arg)
c.797A>G (p.Gln266Arg)
n.90+4795A>G
 gnomAD v4
9g.137199309T>GCA375776125TPRNc.1403A>C (p.Gln468Pro)
c.797A>C (p.Gln266Pro)
n.90+4795A>C
9g.137199309_137199310delinsTGCA1884351131TPRNc.1402_1403delinsCA (p.Gln468=)
c.796_797delinsCA (p.Gln266=)
n.90+4794_90+4795delinsCA
9g.137199310G>ACA375776128TPRNc.1402C>T (p.Gln468Ter)
c.796C>T (p.Gln266Ter)
n.90+4794C>T
9g.137199310G>CCA375776136TPRNc.1402C>G (p.Gln468Glu)
c.796C>G (p.Gln266Glu)
n.90+4794C>G
9g.137199310G>TCA375776132TPRNc.1402C>A (p.Gln468Lys)
c.796C>A (p.Gln266Lys)
n.90+4794C>A
 gnomAD v4 COSMIC COSMIC
9g.137199315dupCA5362746TPRNc.1402dup (p.Gln468ProfsTer?)
c.796dup (p.Gln266ProfsTer?)
n.90+4794dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137199315delCA591373024TPRNc.1402del (p.Gln468LysfsTer?)
c.796del (p.Gln266LysfsTer?)
n.90+4794del
 dbSNP gnomAD v2 gnomAD v4
9g.137199311G>ACA467853156TPRNc.1401C>T (p.Pro467=)
c.795C>T (p.Pro265=)
n.90+4793C>T
 dbSNP gnomAD v2 gnomAD v4
9g.137199311G>CCA467853157TPRNc.1401C>G (p.Pro467=)
c.795C>G (p.Pro265=)
n.90+4793C>G
 dbSNP gnomAD v4
9g.137199311G=CA1884351132TPRNc.1401C= (p.Pro467=)
c.795C= (p.Pro265=)
n.90+4793C=
9g.137199311G>TCA467853158TPRNc.1401C>A (p.Pro467=)
c.795C>A (p.Pro265=)
n.90+4793C>A
9g.137199312G>ACA375776137TPRNc.1400C>T (p.Pro467Leu)
c.794C>T (p.Pro265Leu)
n.90+4792C>T
9g.137199312G>CCA5362747TPRNc.1400C>G (p.Pro467Arg)
c.794C>G (p.Pro265Arg)
n.90+4792C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137199312G=CA1884351133TPRNc.1400C= (p.Pro467=)
c.794C= (p.Pro265=)
n.90+4792C=
9g.137199312G>TCA375776138TPRNc.1400C>A (p.Pro467His)
c.794C>A (p.Pro265His)
n.90+4792C>A
9g.137199313G>ACA5362748TPRNc.1399C>T (p.Pro467Ser)
c.793C>T (p.Pro265Ser)
n.90+4791C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137199313G>CCA375776142TPRNc.1399C>G (p.Pro467Ala)
c.793C>G (p.Pro265Ala)
n.90+4791C>G
9g.137199313G=CA1884351134TPRNc.1399C= (p.Pro467=)
c.793C= (p.Pro265=)
n.90+4791C=
9g.137199313G>TCA375776148TPRNc.1399C>A (p.Pro467Thr)
c.793C>A (p.Pro265Thr)
n.90+4791C>A
 gnomAD v4
9g.137199314G>ACA467853159TPRNc.1398C>T (p.Ala466=)
c.792C>T (p.Ala264=)
n.90+4790C>T
9g.137199314G>CCA467853160TPRNc.1398C>G (p.Ala466=)
c.792C>G (p.Ala264=)
n.90+4790C>G
9g.137199314G>TCA467853161TPRNc.1398C>A (p.Ala466=)
c.792C>A (p.Ala264=)
n.90+4790C>A
 gnomAD v4
9g.137199315G>ACA375776152TPRNc.1397C>T (p.Ala466Val)
c.791C>T (p.Ala264Val)
n.90+4789C>T
 gnomAD v4
9g.137199315G>CCA375776157TPRNc.1397C>G (p.Ala466Gly)
c.791C>G (p.Ala264Gly)
n.90+4789C>G
 dbSNP
9g.137199315G=CA1884351135TPRNc.1397C= (p.Ala466=)
c.791C= (p.Ala264=)
n.90+4789C=
9g.137199315G>TCA375776160TPRNc.1397C>A (p.Ala466Asp)
c.791C>A (p.Ala264Asp)
n.90+4789C>A
 dbSNP gnomAD v2 gnomAD v4
9g.137199316C>ACA375776169TPRNc.1396G>T (p.Ala466Ser)
c.790G>T (p.Ala264Ser)
n.90+4788G>T
 dbSNP gnomAD v4
9g.137199316C=CA1884351136TPRNc.1396G= (p.Ala466=)
c.790G= (p.Ala264=)
n.90+4788G=
9g.137199316C>GCA5362749TPRNc.1396G>C (p.Ala466Pro)
c.790G>C (p.Ala264Pro)
n.90+4788G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137199316C>TCA375776163TPRNc.1396G>A (p.Ala466Thr)
c.790G>A (p.Ala264Thr)
n.90+4788G>A
 gnomAD v4
9g.137199317delCA2692798348TPRNc.1396del (p.Ala466ProfsTer?)
c.790del (p.Ala264ProfsTer?)
n.90+4788del
 gnomAD v4
9g.137199317C>ACA375776172TPRNc.1395G>T (p.Glu465Asp)
c.789G>T (p.Glu263Asp)
n.90+4787G>T
9g.137199317C=CA1884351137TPRNc.1395G= (p.Glu465=)
c.789G= (p.Glu263=)
n.90+4787G=
9g.137199317C>GCA375776173TPRNc.1395G>C (p.Glu465Asp)
c.789G>C (p.Glu263Asp)
n.90+4787G>C
 gnomAD v4
9g.137199317C>TCA467853162TPRNc.1395G>A (p.Glu465=)
c.789G>A (p.Glu263=)
n.90+4787G>A
 dbSNP gnomAD v3 gnomAD v4
9g.137199318T>ACA375776177TPRNc.1394A>T (p.Glu465Val)
c.788A>T (p.Glu263Val)
n.90+4786A>T
9g.137199318T>CCA375776180TPRNc.1394A>G (p.Glu465Gly)
c.788A>G (p.Glu263Gly)
n.90+4786A>G
 gnomAD v4
9g.137199318T>GCA375776183TPRNc.1394A>C (p.Glu465Ala)
c.788A>C (p.Glu263Ala)
n.90+4786A>C
9g.137199319C>ACA375776185TPRNc.1393G>T (p.Glu465Ter)
c.787G>T (p.Glu263Ter)
n.90+4785G>T
9g.137199319C>GCA375776188TPRNc.1393G>C (p.Glu465Gln)
c.787G>C (p.Glu263Gln)
n.90+4785G>C
9g.137199319C>TCA375776190TPRNc.1393G>A (p.Glu465Lys)
c.787G>A (p.Glu263Lys)
n.90+4785G>A
9g.137199320C>ACA375776193TPRNc.1392G>T (p.Glu464Asp)
c.786G>T (p.Glu262Asp)
n.90+4784G>T
9g.137199320C>GCA375776196TPRNc.1392G>C (p.Glu464Asp)
c.786G>C (p.Glu262Asp)
n.90+4784G>C
9g.137199320C>TCA467853163TPRNc.1392G>A (p.Glu464=)
c.786G>A (p.Glu262=)
n.90+4784G>A
9g.137199321T>ACA375776198TPRNc.1391A>T (p.Glu464Val)
c.785A>T (p.Glu262Val)
n.90+4783A>T
9g.137199321T>CCA375776200TPRNc.1391A>G (p.Glu464Gly)
c.785A>G (p.Glu262Gly)
n.90+4783A>G
9g.137199321T>GCA375776202TPRNc.1391A>C (p.Glu464Ala)
c.785A>C (p.Glu262Ala)
n.90+4783A>C
9g.137199322C>ACA375776207TPRNc.1390G>T (p.Glu464Ter)
c.784G>T (p.Glu262Ter)
n.90+4782G>T
9g.137199322C>GCA375776212TPRNc.1390G>C (p.Glu464Gln)
c.784G>C (p.Glu262Gln)
n.90+4782G>C
9g.137199322C>TCA375776210TPRNc.1390G>A (p.Glu464Lys)
c.784G>A (p.Glu262Lys)
n.90+4782G>A
9g.137199323C>ACA5362751TPRNc.1389G>T (p.Ser463=)
c.783G>T (p.Ser261=)
n.90+4781G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137199323C=CA1884351138TPRNc.1389G= (p.Ser463=)
c.783G= (p.Ser261=)
n.90+4781G=
9g.137199323C>GCA467924812TPRNc.1389G>C (p.Ser463=)
c.783G>C (p.Ser261=)
n.90+4781G>C
9g.137199323C>TCA5362750TPRNc.1389G>A (p.Ser463=)
c.783G>A (p.Ser261=)
n.90+4781G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137199324G>ACA5362752TPRNc.1388C>T (p.Ser463Leu)
c.782C>T (p.Ser261Leu)
n.90+4780C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137199324G>CCA375776233TPRNc.1388C>G (p.Ser463Trp)
c.782C>G (p.Ser261Trp)
n.90+4780C>G
9g.137199324G=CA1884351139TPRNc.1388C= (p.Ser463=)
c.782C= (p.Ser261=)
n.90+4780C=
9g.137199324G>TCA375776235TPRNc.1388C>A (p.Ser463Ter)
c.782C>A (p.Ser261Ter)
n.90+4780C>A
 gnomAD v4
9g.137199325A>CCA375776238TPRNc.1387T>G (p.Ser463Ala)
c.781T>G (p.Ser261Ala)
n.90+4779T>G
9g.137199325A>GCA375776240TPRNc.1387T>C (p.Ser463Pro)
c.781T>C (p.Ser261Pro)
n.90+4779T>C
9g.137199325A>TCA375776244TPRNc.1387T>A (p.Ser463Thr)
c.781T>A (p.Ser261Thr)
n.90+4779T>A
9g.137199325dupCA2692798386TPRNc.1387dup (p.Ser463PhefsTer?)
c.781dup (p.Ser261PhefsTer?)
n.90+4779dup
 gnomAD v4
9g.137199326G>ACA467924813TPRNc.1386C>T (p.Asp462=)
c.780C>T (p.Asp260=)
n.90+4778C>T
 gnomAD v4
9g.137199326G>CCA375776249TPRNc.1386C>G (p.Asp462Glu)
c.780C>G (p.Asp260Glu)
n.90+4778C>G
9g.137199326G=CA1884351140TPRNc.1386C= (p.Asp462=)
c.780C= (p.Asp260=)
n.90+4778C=
9g.137199326G>TCA5362753TPRNc.1386C>A (p.Asp462Glu)
c.780C>A (p.Asp260Glu)
n.90+4778C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137199327T>ACA375776264TPRNc.1385A>T (p.Asp462Val)
c.779A>T (p.Asp260Val)
n.90+4777A>T
9g.137199327T>CCA375776259TPRNc.1385A>G (p.Asp462Gly)
c.779A>G (p.Asp260Gly)
n.90+4777A>G
9g.137199327T>GCA375776255TPRNc.1385A>C (p.Asp462Ala)
c.779A>C (p.Asp260Ala)
n.90+4777A>C
 gnomAD v4
9g.137199328C>ACA375776267TPRNc.1384G>T (p.Asp462Tyr)
c.778G>T (p.Asp260Tyr)
n.90+4776G>T
9g.137199328C=CA1884351141TPRNc.1384G= (p.Asp462=)
c.778G= (p.Asp260=)
n.90+4776G=
9g.137199328C>GCA375776269TPRNc.1384G>C (p.Asp462His)
c.778G>C (p.Asp260His)
n.90+4776G>C
 dbSNP gnomAD v2 gnomAD v4
9g.137199328C>TCA375776270TPRNc.1384G>A (p.Asp462Asn)
c.778G>A (p.Asp260Asn)
n.90+4776G>A
9g.137199329T>ACA467924814TPRNc.1383A>T (p.Val461=)
c.777A>T (p.Val259=)
n.90+4775A>T
9g.137199329T>CCA467924816TPRNc.1383A>G (p.Val461=)
c.777A>G (p.Val259=)
n.90+4775A>G
9g.137199329T>GCA467924815TPRNc.1383A>C (p.Val461=)
c.777A>C (p.Val259=)
n.90+4775A>C
 COSMIC COSMIC
9g.137199330A>CCA375776274TPRNc.1382T>G (p.Val461Gly)
c.776T>G (p.Val259Gly)
n.90+4774T>G
9g.137199330A>GCA375776284TPRNc.1382T>C (p.Val461Ala)
c.776T>C (p.Val259Ala)
n.90+4774T>C
9g.137199330A>TCA375776287TPRNc.1382T>A (p.Val461Glu)
c.776T>A (p.Val259Glu)
n.90+4774T>A
9g.137199331C>ACA375776298TPRNc.1381G>T (p.Val461Leu)
c.775G>T (p.Val259Leu)
n.90+4773G>T
9g.137199331C>GCA375776295TPRNc.1381G>C (p.Val461Leu)
c.775G>C (p.Val259Leu)
n.90+4773G>C
9g.137199331C>TCA375776293TPRNc.1381G>A (p.Val461Ile)
c.775G>A (p.Val259Ile)
n.90+4773G>A
 gnomAD v4
9g.137199332C>ACA375776302TPRNc.1380G>T (p.Glu460Asp)
c.774G>T (p.Glu258Asp)
n.90+4772G>T
9g.137199332C=CA1884351142TPRNc.1380G= (p.Glu460=)
c.774G= (p.Glu258=)
n.90+4772G=
9g.137199332C>GCA375776315TPRNc.1380G>C (p.Glu460Asp)
c.774G>C (p.Glu258Asp)
n.90+4772G>C
9g.137199332C>TCA5362754TPRNc.1380G>A (p.Glu460=)
c.774G>A (p.Glu258=)
n.90+4772G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137199333T>ACA375776322TPRNc.1379A>T (p.Glu460Val)
c.773A>T (p.Glu258Val)
n.90+4771A>T
9g.137199333T>CCA375776325TPRNc.1379A>G (p.Glu460Gly)
c.773A>G (p.Glu258Gly)
n.90+4771A>G
 gnomAD v4
9g.137199333T>GCA375776327TPRNc.1379A>C (p.Glu460Ala)
c.773A>C (p.Glu258Ala)
n.90+4771A>C
9g.137199335_137199337delCA2580081081TPRNc.1377_1379del (p.Asp459del)
c.771_773del (p.Asp257del)
n.90+4769_90+4771del
 ClinVar
9g.137199334C>ACA375776331TPRNc.1378G>T (p.Glu460Ter)
c.772G>T (p.Glu258Ter)
n.90+4770G>T
 COSMIC COSMIC
9g.137199334C>GCA375776335TPRNc.1378G>C (p.Glu460Gln)
c.772G>C (p.Glu258Gln)
n.90+4770G>C
9g.137199334C>TCA375776333TPRNc.1378G>A (p.Glu460Lys)
c.772G>A (p.Glu258Lys)
n.90+4770G>A
9g.137199335A=CA1884351143TPRNc.1377T= (p.Asp459=)
c.771T= (p.Asp257=)
n.90+4769T=
9g.137199335A>CCA375776337TPRNc.1377T>G (p.Asp459Glu)
c.771T>G (p.Asp257Glu)
n.90+4769T>G
9g.137199335A>GCA5362755TPRNc.1377T>C (p.Asp459=)
c.771T>C (p.Asp257=)
n.90+4769T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137199335A>TCA375776341TPRNc.1377T>A (p.Asp459Glu)
c.771T>A (p.Asp257Glu)
n.90+4769T>A
9g.137199336T>ACA375776343TPRNc.1376A>T (p.Asp459Val)
c.770A>T (p.Asp257Val)
n.90+4768A>T
9g.137199336T>CCA5362756TPRNc.1376A>G (p.Asp459Gly)
c.770A>G (p.Asp257Gly)
n.90+4768A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137199336T>GCA375776349TPRNc.1376A>C (p.Asp459Ala)
c.770A>C (p.Asp257Ala)
n.90+4768A>C
9g.137199336T=CA1884351144TPRNc.1376A= (p.Asp459=)
c.770A= (p.Asp257=)
n.90+4768A=
9g.137199336_137199337delinsTCCA1884351145TPRNc.1375_1376delinsGA (p.Asp459=)
c.769_770delinsGA (p.Asp257=)
n.90+4767_90+4768delinsGA
9g.137199337delCA1884351147TPRNc.1375del (p.Asp459MetfsTer3)
c.769del (p.Asp257MetfsTer3)
n.90+4767del
 dbSNP
9g.137199337C>ACA375776352TPRNc.1375G>T (p.Asp459Tyr)
c.769G>T (p.Asp257Tyr)
n.90+4767G>T
9g.137199337C=CA1884351146TPRNc.1375G= (p.Asp459=)
c.769G= (p.Asp257=)
n.90+4767G=
9g.137199337C>GCA375776354TPRNc.1375G>C (p.Asp459His)
c.769G>C (p.Asp257His)
n.90+4767G>C
9g.137199337C>TCA375776356TPRNc.1375G>A (p.Asp459Asn)
c.769G>A (p.Asp257Asn)
n.90+4767G>A
 dbSNP gnomAD v2 gnomAD v4
9g.137199338G>ACA5362757TPRNc.1374C>T (p.Ile458=)
c.768C>T (p.Ile256=)
n.90+4766C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137199338G>CCA375776361TPRNc.1374C>G (p.Ile458Met)
c.768C>G (p.Ile256Met)
n.90+4766C>G
 dbSNP
9g.137199338G=CA1884351148TPRNc.1374C= (p.Ile458=)
c.768C= (p.Ile256=)
n.90+4766C=
9g.137199338G>TCA467924818TPRNc.1374C>A (p.Ile458=)
c.768C>A (p.Ile256=)
n.90+4766C>A
9g.137199339A>CCA375776364TPRNc.1373T>G (p.Ile458Ser)
c.767T>G (p.Ile256Ser)
n.90+4765T>G
9g.137199339A>GCA375776370TPRNc.1373T>C (p.Ile458Thr)
c.767T>C (p.Ile256Thr)
n.90+4765T>C
9g.137199339A>TCA375776367TPRNc.1373T>A (p.Ile458Asn)
c.767T>A (p.Ile256Asn)
n.90+4765T>A
9g.137199340T>ACA375776372TPRNc.1372A>T (p.Ile458Phe)
c.766A>T (p.Ile256Phe)
n.90+4764A>T
9g.137199340T>CCA375776373TPRNc.1372A>G (p.Ile458Val)
c.766A>G (p.Ile256Val)
n.90+4764A>G
9g.137199340T>GCA375776375TPRNc.1372A>C (p.Ile458Leu)
c.766A>C (p.Ile256Leu)
n.90+4764A>C
9g.137199341G>ACA201721042TPRNc.1371C>T (p.Phe457=)
c.765C>T (p.Phe255=)
n.90+4763C>T
 dbSNP
9g.137199341G>CCA375776378TPRNc.1371C>G (p.Phe457Leu)
c.765C>G (p.Phe255Leu)
n.90+4763C>G
9g.137199341G=CA1884351149TPRNc.1371C= (p.Phe457=)
c.765C= (p.Phe255=)
n.90+4763C=
9g.137199341G>TCA375776381TPRNc.1371C>A (p.Phe457Leu)
c.765C>A (p.Phe255Leu)
n.90+4763C>A
 dbSNP
9g.137199342A>CCA375776384TPRNc.1370T>G (p.Phe457Cys)
c.764T>G (p.Phe255Cys)
n.90+4762T>G
9g.137199342A>GCA375776387TPRNc.1370T>C (p.Phe457Ser)
c.764T>C (p.Phe255Ser)
n.90+4762T>C
9g.137199342A>TCA375776390TPRNc.1370T>A (p.Phe457Tyr)
c.764T>A (p.Phe255Tyr)
n.90+4762T>A
9g.137199343A=CA1884351150TPRNc.1369T= (p.Phe457=)
c.763T= (p.Phe255=)
n.90+4761T=
9g.137199343A>CCA375776393TPRNc.1369T>G (p.Phe457Val)
c.763T>G (p.Phe255Val)
n.90+4761T>G
 gnomAD v4
9g.137199343A>GCA375776394TPRNc.1369T>C (p.Phe457Leu)
c.763T>C (p.Phe255Leu)
n.90+4761T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137199343A>TCA375776397TPRNc.1369T>A (p.Phe457Ile)
c.763T>A (p.Phe255Ile)
n.90+4761T>A
9g.137199344G>ACA467924931TPRNc.1368C>T (p.Thr456=)
c.762C>T (p.Thr254=)
n.90+4760C>T
 dbSNP gnomAD v4
9g.137199344G>CCA467924929TPRNc.1368C>G (p.Thr456=)
c.762C>G (p.Thr254=)
n.90+4760C>G
 gnomAD v4
9g.137199344G=CA1884351151TPRNc.1368C= (p.Thr456=)
c.762C= (p.Thr254=)
n.90+4760C=
9g.137199344G>TCA467924930TPRNc.1368C>A (p.Thr456=)
c.762C>A (p.Thr254=)
n.90+4760C>A
9g.137199345G>ACA375776415TPRNc.1367C>T (p.Thr456Ile)
c.761C>T (p.Thr254Ile)
n.90+4759C>T
 gnomAD v4
9g.137199345G>CCA375776413TPRNc.1367C>G (p.Thr456Ser)
c.761C>G (p.Thr254Ser)
n.90+4759C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137199345G=CA1884351152TPRNc.1367C= (p.Thr456=)
c.761C= (p.Thr254=)
n.90+4759C=
9g.137199345G>TCA375776400TPRNc.1367C>A (p.Thr456Asn)
c.761C>A (p.Thr254Asn)
n.90+4759C>A
9g.137199346T>ACA375776420TPRNc.1366A>T (p.Thr456Ser)
c.760A>T (p.Thr254Ser)
n.90+4758A>T
 dbSNP gnomAD v3 gnomAD v4
9g.137199346T>CCA375776421TPRNc.1366A>G (p.Thr456Ala)
c.760A>G (p.Thr254Ala)
n.90+4758A>G
9g.137199346T>GCA375776422TPRNc.1366A>C (p.Thr456Pro)
c.760A>C (p.Thr254Pro)
n.90+4758A>C
9g.137199346T=CA1884351153TPRNc.1366A= (p.Thr456=)
c.760A= (p.Thr254=)
n.90+4758A=
9g.137199347G>ACA467924932TPRNc.1365C>T (p.Val455=)
c.759C>T (p.Val253=)
n.90+4757C>T
 gnomAD v4
9g.137199347G>CCA467924933TPRNc.1365C>G (p.Val455=)
c.759C>G (p.Val253=)
n.90+4757C>G
9g.137199347G>TCA467924934TPRNc.1365C>A (p.Val455=)
c.759C>A (p.Val253=)
n.90+4757C>A
9g.137199348A>CCA375776423TPRNc.1364T>G (p.Val455Gly)
c.758T>G (p.Val253Gly)
n.90+4756T>G
9g.137199348A>GCA375776425TPRNc.1364T>C (p.Val455Ala)
c.758T>C (p.Val253Ala)
n.90+4756T>C
9g.137199348A>TCA375776427TPRNc.1364T>A (p.Val455Asp)
c.758T>A (p.Val253Asp)
n.90+4756T>A
9g.137199349C>ACA375776429TPRNc.1363G>T (p.Val455Phe)
c.757G>T (p.Val253Phe)
n.90+4755G>T
9g.137199349C>GCA375776430TPRNc.1363G>C (p.Val455Leu)
c.757G>C (p.Val253Leu)
n.90+4755G>C
9g.137199349C>TCA375776431TPRNc.1363G>A (p.Val455Ile)
c.757G>A (p.Val253Ile)
n.90+4755G>A
9g.137199352_137199355delCA2692798475TPRNc.1360_1363del (p.Pro454SerfsTer7)
c.754_757del (p.Pro252SerfsTer7)
n.90+4752_90+4755del
 gnomAD v4
9g.137199350A>CCA467924935TPRNc.1362T>G (p.Pro454=)
c.756T>G (p.Pro252=)
n.90+4754T>G
9g.137199350A>GCA467924936TPRNc.1362T>C (p.Pro454=)
c.756T>C (p.Pro252=)
n.90+4754T>C
9g.137199350A>TCA467924937TPRNc.1362T>A (p.Pro454=)
c.756T>A (p.Pro252=)
n.90+4754T>A
9g.137199351G>ACA5362759TPRNc.1361C>T (p.Pro454Leu)
c.755C>T (p.Pro252Leu)
n.90+4753C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137199351G>CCA5362758TPRNc.1361C>G (p.Pro454Arg)
c.755C>G (p.Pro252Arg)
n.90+4753C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137199351G=CA1884351154TPRNc.1361C= (p.Pro454=)
c.755C= (p.Pro252=)
n.90+4753C=
9g.137199351G>TCA375776436TPRNc.1361C>A (p.Pro454His)
c.755C>A (p.Pro252His)
n.90+4753C>A
 COSMIC COSMIC
9g.137199352G>ACA375776445TPRNc.1360C>T (p.Pro454Ser)
c.754C>T (p.Pro252Ser)
n.90+4752C>T
9g.137199352G>CCA375776442TPRNc.1360C>G (p.Pro454Ala)
c.754C>G (p.Pro252Ala)
n.90+4752C>G
9g.137199352G>TCA375776439TPRNc.1360C>A (p.Pro454Thr)
c.754C>A (p.Pro252Thr)
n.90+4752C>A
9g.137199353C>ACA467924938TPRNc.1359G>T (p.Leu453=)
c.753G>T (p.Leu251=)
n.90+4751G>T
9g.137199353C=CA1884351155TPRNc.1359G= (p.Leu453=)
c.753G= (p.Leu251=)
n.90+4751G=
9g.137199353C>GCA467924939TPRNc.1359G>C (p.Leu453=)
c.753G>C (p.Leu251=)
n.90+4751G>C
9g.137199353C>TCA467924940TPRNc.1359G>A (p.Leu453=)
c.753G>A (p.Leu251=)
n.90+4751G>A
 dbSNP gnomAD v2 gnomAD v4
9g.137199354A>CCA375776447TPRNc.1358T>G (p.Leu453Arg)
c.752T>G (p.Leu251Arg)
n.90+4750T>G
 gnomAD v4
9g.137199354A>GCA375776453TPRNc.1358T>C (p.Leu453Pro)
c.752T>C (p.Leu251Pro)
n.90+4750T>C
9g.137199354A>TCA375776450TPRNc.1358T>A (p.Leu453Gln)
c.752T>A (p.Leu251Gln)
n.90+4750T>A
9g.137199355G>ACA201721057TPRNc.1357C>T (p.Leu453=)
c.751C>T (p.Leu251=)
n.90+4749C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137199355G>CCA375776483TPRNc.1357C>G (p.Leu453Val)
c.751C>G (p.Leu251Val)
n.90+4749C>G
9g.137199355G=CA1884351156TPRNc.1357C= (p.Leu453=)
c.751C= (p.Leu251=)
n.90+4749C=
9g.137199355G>TCA375776471TPRNc.1357C>A (p.Leu453Met)
c.751C>A (p.Leu251Met)
n.90+4749C>A
9g.137199356C>ACA467924941TPRNc.1356G>T (p.Gly452=)
c.750G>T (p.Gly250=)
n.90+4748G>T
9g.137199356C>GCA467924942TPRNc.1356G>C (p.Gly452=)
c.750G>C (p.Gly250=)
n.90+4748G>C
9g.137199356C>TCA467924943TPRNc.1356G>A (p.Gly452=)
c.750G>A (p.Gly250=)
n.90+4748G>A
 gnomAD v4

Number of alleles fetched