Full data view for gene PRSS50

Information The variants shown are described using the NM_013270.4 transcript reference sequence.

96 entries on 1 page. Showing entries 1 - 96.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.22G>A r.(?) p.(Val8Ile) g.46759293C>T Copied from the Exome Variant Server PRSS50_000096 40/11728 2/7710 38/4018 - - - - - - -
?/? c.30C>T r.(=) p.(=) g.46759285G>A Copied from the Exome Variant Server PRSS50_000095 1/11912 1/7844 0/4068 - - - - - - -
?/? c.39C>T r.(=) p.(=) g.46759276G>A Copied from the Exome Variant Server PRSS50_000094 1/12118 1/7994 0/4124 - - - - - - -
?/? c.40C>T r.(?) p.(Pro14Ser) g.46759275G>A Copied from the Exome Variant Server PRSS50_000093 7/12142 0/8012 7/4130 - - - - - - -
?/? c.44G>A r.(?) p.(Arg15Gln) g.46759271C>T Copied from the Exome Variant Server PRSS50_000092 2/12312 2/8136 0/4176 - - - - - - -
?/? c.48G>A r.(=) p.(=) g.46759267C>T Copied from the Exome Variant Server PRSS50_000091 435/12460 14/8246 421/4214 - - - - - - -
?/? c.50C>G r.(?) p.(Ser17Cys) g.46759265G>C Copied from the Exome Variant Server PRSS50_000090 1/12488 0/8268 1/4220 - - - - - - -
?/? c.70G>A r.(?) p.(Ala24Thr) g.46759245C>T Copied from the Exome Variant Server PRSS50_000089 6/12788 0/8470 6/4318 - - - - - - -
?/? c.84_86del r.(?) p.(Leu32del) g.46759229_46759231del Copied from the Exome Variant Server PRSS50_000088 51/12252 41/8094 10/4158 - - - - - - -
?/? c.84_86dup r.(?) p.(Leu32dup) g.46759229_46759231dup Copied from the Exome Variant Server PRSS50_000087 598/12252 543/8094 55/4158 - - - - - - -
?/? c.106+5G>A r.spl? p.? g.46759204C>T Copied from the Exome Variant Server PRSS50_000086 323/12882 1/8520 322/4362 - - - - - - -
?/? c.106+15A>C r.(=) p.(=) g.46759194T>G Copied from the Exome Variant Server PRSS50_000085 1/12924 1/8550 0/4374 - - - - - - -
?/? c.106+36C>G r.(=) p.(=) g.46759173G>C Copied from the Exome Variant Server PRSS50_000083 1/12956 0/8576 1/4380 - - - - - - -
?/? c.107-25C>G r.(=) p.(=) g.46759152G>C Copied from the Exome Variant Server PRSS50_000081 1/12982 1/8588 0/4394 - - - - - - -
?/? c.107-12C>T r.(=) p.(=) g.46759139G>A Copied from the Exome Variant Server PRSS50_000079 7/12986 6/8590 1/4396 - - - - - - -
?/? c.107-9C>T r.(=) p.(=) g.46759136G>A Copied from the Exome Variant Server PRSS50_000077 1/12992 0/8596 1/4396 - - - - - - -
?/? c.107-7T>G r.(=) p.(=) g.46759134A>C Copied from the Exome Variant Server PRSS50_000075 1/12992 1/8596 0/4396 - - - - - - -
?/? c.107G>A r.(?) p.(Gly36Asp) g.46759127C>T Copied from the Exome Variant Server PRSS50_000073 1/12988 1/8592 0/4396 - - - - - - -
?/? c.115G>T r.(?) p.(Gly39Cys) g.46759119C>A Copied from the Exome Variant Server PRSS50_000071 1/12990 0/8594 1/4396 - - - - - - -
?/? c.117C>T r.(=) p.(=) g.46759117G>A Copied from the Exome Variant Server PRSS50_000069 17/12990 0/8594 17/4396 - - - - - - -
?/? c.159C>T r.(=) p.(=) g.46759075G>A Copied from the Exome Variant Server PRSS50_000084 1/13006 0/8600 1/4406 - - - - - - -
?/? c.211C>T r.(?) p.(Arg71Cys) g.46759023G>A Copied from the Exome Variant Server PRSS50_000082 3/13006 0/8600 3/4406 - - - - - - -
?/? c.224A>C r.(?) p.(Gln75Pro) g.46759010T>G Copied from the Exome Variant Server PRSS50_000080 2888/13006 700/8600 2188/4406 - - - - - - -
?/? c.249C>T r.(=) p.(=) g.46758985G>A Copied from the Exome Variant Server PRSS50_000078 15/13006 12/8600 3/4406 - - - - - - -
?/? c.292G>A r.(?) p.(Val98Ile) g.46758942C>T Copied from the Exome Variant Server PRSS50_000076 102/13006 0/8600 102/4406 - - - - - - -
?/? c.307+13G>C r.(=) p.(=) g.46758914C>G Copied from the Exome Variant Server PRSS50_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.324C>T r.(=) p.(=) g.46757171G>A Copied from the Exome Variant Server PRSS50_000072 1/12994 1/8594 0/4400 - - - - - - -
?/? c.336C>T r.(=) p.(=) g.46757159G>A Copied from the Exome Variant Server PRSS50_000070 4/12992 4/8592 0/4400 - - - - - - -
?/? c.368G>A r.(?) p.(Arg123Gln) g.46757127C>T Copied from the Exome Variant Server PRSS50_000068 1/13002 0/8596 1/4406 - - - - - - -
?/? c.391C>T r.(?) p.(Arg131Trp) g.46757104G>A Copied from the Exome Variant Server PRSS50_000067 1/13004 1/8600 0/4404 - - - - - - -
?/? c.408C>T r.(=) p.(=) g.46757087G>A Copied from the Exome Variant Server PRSS50_000066 2/13004 2/8600 0/4404 - - - - - - -
?/? c.417C>T r.(=) p.(=) g.46757078G>A Copied from the Exome Variant Server PRSS50_000065 1/13004 1/8600 0/4404 - - - - - - -
?/? c.419G>A r.(?) p.(Gly140Asp) g.46757076C>T Copied from the Exome Variant Server PRSS50_000064 1/13004 1/8600 0/4404 - - - - - - -
?/? c.455C>T r.(?) p.(Ala152Val) g.46757040G>A Copied from the Exome Variant Server PRSS50_000063 1/13006 0/8600 1/4406 - - - - - - -
?/? c.470+14G>T r.(=) p.(=) g.46757011C>A Copied from the Exome Variant Server PRSS50_000062 1/13006 0/8600 1/4406 - - - - - - -
?/? c.470+17G>A r.(=) p.(=) g.46757008C>T Copied from the Exome Variant Server PRSS50_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.471-43G>A r.(=) p.(=) g.46756034C>T Copied from the Exome Variant Server PRSS50_000060 1/12922 1/8558 0/4364 - - - - - - -
?/? c.471-27C>T r.(=) p.(=) g.46756018G>A Copied from the Exome Variant Server PRSS50_000059 5/12958 0/8580 5/4378 - - - - - - -
?/? c.471-10G>C r.(=) p.(=) g.46756001C>G Copied from the Exome Variant Server PRSS50_000058 598/12988 200/8596 398/4392 - - - - - - -
?/? c.482T>A r.(?) p.(Ile161Asn) g.46755980A>T Copied from the Exome Variant Server PRSS50_000057 1/13000 1/8600 0/4400 - - - - - - -
?/? c.487T>C r.(?) p.(Ser163Pro) g.46755975A>G Copied from the Exome Variant Server PRSS50_000056 40/13000 36/8600 4/4400 - - - - - - -
?/? c.492G>A r.(=) p.(=) g.46755970C>T Copied from the Exome Variant Server PRSS50_000055 6/13002 1/8598 5/4404 - - - - - - -
?/? c.524C>T r.(?) p.(Thr175Met) g.46755938G>A Copied from the Exome Variant Server PRSS50_000054 2/13006 2/8600 0/4406 - - - - - - -
?/? c.525G>A r.(=) p.(=) g.46755937C>T Copied from the Exome Variant Server PRSS50_000053 3793/13006 1258/8600 2535/4406 - - - - - - -
?/? c.532G>A r.(?) p.(Ala178Thr) g.46755930C>T Copied from the Exome Variant Server PRSS50_000052 124/13006 3/8600 121/4406 - - - - - - -
?/? c.543C>G r.(=) p.(=) g.46755919G>C Copied from the Exome Variant Server PRSS50_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.545C>T r.(?) p.(Pro182Leu) g.46755917G>A Copied from the Exome Variant Server PRSS50_000050 14/13006 13/8600 1/4406 - - - - - - -
?/? c.577C>T r.(?) p.(Arg193Trp) g.46755885G>A Copied from the Exome Variant Server PRSS50_000049 6/13006 1/8600 5/4406 - - - - - - -
?/? c.588G>T r.(=) p.(=) g.46755874C>A Copied from the Exome Variant Server PRSS50_000048 3/13006 0/8600 3/4406 - - - - - - -
?/? c.611C>T r.(?) p.(Ala204Val) g.46755851G>A Copied from the Exome Variant Server PRSS50_000047 1/13006 0/8600 1/4406 - - - - - - -
?/? c.615C>T r.(=) p.(=) g.46755847G>A Copied from the Exome Variant Server PRSS50_000046 1/13006 0/8600 1/4406 - - - - - - -
?/? c.621C>T r.(=) p.(=) g.46755841G>A Copied from the Exome Variant Server PRSS50_000045 13/13006 1/8600 12/4406 - - - - - - -
?/? c.671C>T r.(?) p.(Pro224Leu) g.46755791G>A Copied from the Exome Variant Server PRSS50_000044 6/13006 0/8600 6/4406 - - - - - - -
?/? c.715C>T r.(?) p.(Arg239Cys) g.46755747G>A Copied from the Exome Variant Server PRSS50_000043 70/13004 0/8600 70/4404 - - - - - - -
?/? c.728C>T r.(?) p.(Thr243Met) g.46755734G>A Copied from the Exome Variant Server PRSS50_000042 2/13006 0/8600 2/4406 - - - - - - -
?/? c.754+14T>C r.(=) p.(=) g.46755694A>G Copied from the Exome Variant Server PRSS50_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.754+16T>C r.(=) p.(=) g.46755692A>G Copied from the Exome Variant Server PRSS50_000039 863/13006 259/8600 604/4406 - - - - - - -
?/? c.754+28C>A r.(=) p.(=) g.46755680G>T Copied from the Exome Variant Server PRSS50_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.755-52C>T r.(=) p.(=) g.46754609G>A Copied from the Exome Variant Server PRSS50_000035 1/7272 1/4618 0/2654 - - - - - - -
?/? c.755-51G>A r.(=) p.(=) g.46754608C>T Copied from the Exome Variant Server PRSS50_000033 30/13006 0/8600 30/4406 - - - - - - -
?/? c.755-39C>T r.(=) p.(=) g.46754596G>A Copied from the Exome Variant Server PRSS50_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.755-38G>A r.(=) p.(=) g.46754595C>T Copied from the Exome Variant Server PRSS50_000029 7/13006 0/8600 7/4406 - - - - - - -
?/? c.755-26C>T r.(=) p.(=) g.46754583G>A Copied from the Exome Variant Server PRSS50_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.755-2A>G r.spl? p.? g.46754559T>C Copied from the Exome Variant Server PRSS50_000025 1/13006 0/8600 1/4406 - - - - - - -
?/? c.773G>A r.(?) p.(Arg258Gln) g.46754539C>T Copied from the Exome Variant Server PRSS50_000023 5/13006 1/8600 4/4406 - - - - - - -
?/? c.810C>T r.(=) p.(=) g.46754502G>A Copied from the Exome Variant Server PRSS50_000021 2/13006 2/8600 0/4406 - - - - - - -
?/? c.813A>G r.(=) p.(=) g.46754499T>C Copied from the Exome Variant Server PRSS50_000019 9/13006 7/8600 2/4406 - - - - - - -
?/? c.814G>A r.(?) p.(Glu272Lys) g.46754498C>T Copied from the Exome Variant Server PRSS50_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.842C>A r.(?) p.(Thr281Asn) g.46754470G>T Copied from the Exome Variant Server PRSS50_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.852C>T r.(=) p.(=) g.46754460G>A Copied from the Exome Variant Server PRSS50_000013 337/13006 1/8600 336/4406 - - - - - - -
?/? c.890C>T r.(?) p.(Ala297Val) g.46754422G>A Copied from the Exome Variant Server PRSS50_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.891G>A r.(=) p.(=) g.46754421C>T Copied from the Exome Variant Server PRSS50_000038 2/13006 1/8600 1/4406 - - - - - - -
?/? c.900C>T r.(=) p.(=) g.46754412G>A Copied from the Exome Variant Server PRSS50_000036 2/13006 0/8600 2/4406 - - - - - - -
?/? c.921T>C r.(=) p.(=) g.46754391A>G Copied from the Exome Variant Server PRSS50_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.921+7G>A r.(=) p.(=) g.46754384C>T Copied from the Exome Variant Server PRSS50_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.921+16T>G r.(=) p.(=) g.46754375A>C Copied from the Exome Variant Server PRSS50_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.921+25C>G r.(=) p.(=) g.46754366G>C Copied from the Exome Variant Server PRSS50_000028 2/13006 2/8600 0/4406 - - - - - - -
?/? c.921+50G>A r.(=) p.(=) g.46754341C>T Copied from the Exome Variant Server PRSS50_000026 19/13006 0/8600 19/4406 - - - - - - -
?/? c.922-4A>G r.spl? p.? g.46753976T>C Copied from the Exome Variant Server PRSS50_000024 6821/13006 3731/8600 3090/4406 - - - - - - -
?/? c.924G>A r.(=) p.(=) g.46753970C>T Copied from the Exome Variant Server PRSS50_000022 562/13006 517/8600 45/4406 - - - - - - -
?/? c.942G>A r.(=) p.(=) g.46753952C>T Copied from the Exome Variant Server PRSS50_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.952A>G r.(?) p.(Met318Val) g.46753942T>C Copied from the Exome Variant Server PRSS50_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? c.962C>T r.(?) p.(Thr321Met) g.46753932G>A Copied from the Exome Variant Server PRSS50_000016 2/13006 2/8600 0/4406 - - - - - - -
?/? c.993T>C r.(=) p.(=) g.46753901A>G Copied from the Exome Variant Server PRSS50_000014 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1071C>T r.(=) p.(=) g.46753823G>A Copied from the Exome Variant Server PRSS50_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1074C>T r.(=) p.(=) g.46753820G>A Copied from the Exome Variant Server PRSS50_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1080G>C r.(?) p.(Gln360His) g.46753814C>G Copied from the Exome Variant Server PRSS50_000009 1/13002 0/8600 1/4402 - - - - - - -
?/? c.1082C>T r.(?) p.(Ala361Val) g.46753812G>A Copied from the Exome Variant Server PRSS50_000008 1/13004 0/8600 1/4404 - - - - - - -
?/? c.1108A>G r.(?) p.(Thr370Ala) g.46753786T>C Copied from the Exome Variant Server PRSS50_000007 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1109C>T r.(?) p.(Thr370Ile) g.46753785G>A Copied from the Exome Variant Server PRSS50_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1113G>T r.(=) p.(=) g.46753781C>A Copied from the Exome Variant Server PRSS50_000005 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1121C>T r.(?) p.(Ala374Val) g.46753773G>A Copied from the Exome Variant Server PRSS50_000004 1/13002 1/8598 0/4404 - - - - - - -
?/? c.1129C>T r.(=) p.(=) g.46753765G>A Copied from the Exome Variant Server PRSS50_000003 1/13002 1/8598 0/4404 - - - - - - -
?/? c.1135del r.(?) p.(Leu379Serfs*52) g.46753759del Copied from the Exome Variant Server PRSS50_000002 45/12512 36/8250 9/4262 - - - - - - -
?/? c.*33_*34insC r.(=) p.(=) g.46753702_46753703insG Copied from the Exome Variant Server PRSS50_000001 17/12478 14/8240 3/4238 - - - - - - -
?/? c.*41C>T r.(=) p.(=) g.46753695G>A Copied from the Exome Variant Server PRSS50_000012 5/12972 4/8588 1/4384 - - - - - - -
Legend