All transcript variants in gene PHYHIP

Information The variants shown are described using the NM_014759.3 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-485C>T r.(=) p.(=) g.22089764G>A Copied from the Exome Variant Server PHYHIP_000060 567/4566 451/3182 116/1384
?/? c.-426C>G r.(=) p.(=) g.22089705G>C Copied from the Exome Variant Server PHYHIP_000058 62/4566 0/3182 62/1384
?/? c.-423C>T r.(=) p.(=) g.22089702G>A Copied from the Exome Variant Server PHYHIP_000062 1/4566 1/3182 0/1384
?/? c.-378C>T r.(=) p.(=) g.22089657G>A Copied from the Exome Variant Server PHYHIP_000061 1/4566 1/3182 0/1384
?/? c.-355G>A r.(=) p.(=) g.22089634C>T Copied from the Exome Variant Server PHYHIP_000059 1/4566 1/3182 0/1384
?/? c.-351C>G r.(=) p.(=) g.22089630G>C Copied from the Exome Variant Server PHYHIP_000057 1/4566 1/3182 0/1384
?/? c.-349G>A r.(=) p.(=) g.22089628C>T Copied from the Exome Variant Server PHYHIP_000056 2/4566 0/3182 2/1384
?/? c.-337C>T r.(=) p.(=) g.22089616G>A Copied from the Exome Variant Server PHYHIP_000055 1/4566 0/3182 1/1384
?/? c.-29-1291C>T r.(=) p.(=) g.22087190G>A Copied from the Exome Variant Server PHYHIP_000054 3/4566 3/3182 0/1384
?/? c.-29-1240T>C r.(=) p.(=) g.22087139A>G Copied from the Exome Variant Server PHYHIP_000053 3/4566 0/3182 3/1384
?/? c.-29-1215T>G r.(=) p.(=) g.22087114A>C Copied from the Exome Variant Server PHYHIP_000052 3901/4566 2674/3182 1227/1384
?/? c.-29-1135G>A r.(=) p.(=) g.22087034C>T Copied from the Exome Variant Server PHYHIP_000051 9/4566 0/3182 9/1384
?/? c.-29-1126A>G r.(=) p.(=) g.22087025T>C Copied from the Exome Variant Server PHYHIP_000050 1/4566 1/3182 0/1384
?/? c.-14A>G r.(=) p.(=) g.22085884T>C Copied from the Exome Variant Server PHYHIP_000049 1/12730 1/8498 0/4232
?/? c.-3A>G r.(=) p.(=) g.22085873T>C Copied from the Exome Variant Server PHYHIP_000048 1/12782 1/8518 0/4264
?/? c.42C>T r.(=) p.(=) g.22085829G>A Copied from the Exome Variant Server PHYHIP_000047 1/12818 0/8518 1/4300
?/? c.61C>T r.(?) p.(Arg21Cys) g.22085810G>A Copied from the Exome Variant Server PHYHIP_000046 1/12764 1/8496 0/4268
?/? c.73del r.(?) p.(Ala25Profs*46) g.22085798del Copied from the Exome Variant Server PHYHIP_000045 331/12132 259/8094 72/4038
?/? c.100G>A r.(?) p.(Val34Ile) g.22085771C>T Copied from the Exome Variant Server PHYHIP_000044 1/12584 1/8432 0/4152
?/? c.180G>A r.(=) p.(=) g.22084524C>T Copied from the Exome Variant Server PHYHIP_000043 9/12796 0/8496 9/4300
?/? c.201G>A r.(=) p.(=) g.22084503C>T Copied from the Exome Variant Server PHYHIP_000042 4612/12858 3514/8516 1098/4342
?/? c.213G>A r.(=) p.(=) g.22084491C>T Copied from the Exome Variant Server PHYHIP_000041 5/12870 5/8520 0/4350
?/? c.244A>G r.(?) p.(Thr82Ala) g.22084460T>C Copied from the Exome Variant Server PHYHIP_000040 1/12810 1/8488 0/4322
?/? c.245C>T r.(?) p.(Thr82Met) g.22084459G>A Copied from the Exome Variant Server PHYHIP_000039 1/12814 1/8490 0/4324
?/? c.246G>A r.(=) p.(=) g.22084458C>T Copied from the Exome Variant Server PHYHIP_000038 1/12818 0/8494 1/4324
?/? c.249G>A r.(=) p.(=) g.22084455C>T Copied from the Exome Variant Server PHYHIP_000037 1/12828 0/8504 1/4324
?/? c.285C>T r.(=) p.(=) g.22084419G>A Copied from the Exome Variant Server PHYHIP_000036 1/12856 1/8490 0/4366
?/? c.286G>A r.(?) p.(Asp96Asn) g.22084418C>T Copied from the Exome Variant Server PHYHIP_000035 1/12854 1/8494 0/4360
?/? c.306C>T r.(=) p.(=) g.22084398G>A Copied from the Exome Variant Server PHYHIP_000034 5/12862 4/8504 1/4358
?/? c.315C>T r.(=) p.(=) g.22084389G>A Copied from the Exome Variant Server PHYHIP_000033 22/12860 0/8500 22/4360
?/? c.341-18G>A r.(=) p.(=) g.22081874C>T Copied from the Exome Variant Server PHYHIP_000032 1/12624 0/8430 1/4194
?/? c.417C>T r.(=) p.(=) g.22081780G>A Copied from the Exome Variant Server PHYHIP_000031 2/12718 2/8480 0/4238
?/? c.429C>T r.(=) p.(=) g.22081768G>A Copied from the Exome Variant Server PHYHIP_000030 1/12674 0/8466 1/4208
?/? c.458+4T>C r.spl? p.? g.22081735A>G Copied from the Exome Variant Server PHYHIP_000029 1/12506 1/8422 0/4084
?/? c.458+14C>T r.(=) p.(=) g.22081725G>A Copied from the Exome Variant Server PHYHIP_000028 1/12452 1/8376 0/4076
?/? c.458+29G>A r.(=) p.(=) g.22081710C>T Copied from the Exome Variant Server PHYHIP_000027 1/12352 1/8344 0/4008
?/? c.458+31C>T r.(=) p.(=) g.22081708G>A Copied from the Exome Variant Server PHYHIP_000026 8018/12356 6768/8348 1250/4008
?/? c.458+40C>T r.(=) p.(=) g.22081699G>A Copied from the Exome Variant Server PHYHIP_000025 68/12388 1/8354 67/4034
?/? c.459-19G>C r.(=) p.(=) g.22079419C>G Copied from the Exome Variant Server PHYHIP_000024 21/12060 20/8098 1/3962
?/? c.504T>C N/A N/A g.22079355A>G Copied from the Exome Variant Server PHYHIP_000023 12423/12426 8339/8340 4084/4086
?/? c.561C>T r.(=) p.(=) g.22079298G>A Copied from the Exome Variant Server PHYHIP_000022 1/12316 0/8328 1/3988
?/? c.570C>T r.(=) p.(=) g.22079289G>A Copied from the Exome Variant Server PHYHIP_000021 1/12278 0/8304 1/3974
?/? c.582G>A r.(=) p.(=) g.22079277C>T Copied from the Exome Variant Server PHYHIP_000020 1/12220 1/8284 0/3936
?/? c.588G>A r.(=) p.(=) g.22079271C>T Copied from the Exome Variant Server PHYHIP_000019 4/12180 3/8270 1/3910
?/? c.690G>A r.(=) p.(=) g.22079169C>T Copied from the Exome Variant Server PHYHIP_000018 2/12492 0/8376 2/4116
?/? c.702C>T r.(=) p.(=) g.22079157G>A Copied from the Exome Variant Server PHYHIP_000017 1/12512 0/8390 1/4122
?/? c.753C>T r.(=) p.(=) g.22079106G>A Copied from the Exome Variant Server PHYHIP_000016 2/12620 1/8408 1/4212
?/? c.756C>A r.(?) p.(Asp252Glu) g.22079103G>T Copied from the Exome Variant Server PHYHIP_000015 1/12666 0/8432 1/4234
?/? c.804C>T r.(=) p.(=) g.22079055G>A Copied from the Exome Variant Server PHYHIP_000014 1/12752 1/8486 0/4266
?/? c.829C>T r.(?) p.(Arg277Cys) g.22079030G>A Copied from the Exome Variant Server PHYHIP_000012 1/12754 0/8484 1/4270
?/? c.855G>A r.(=) p.(=) g.22079004C>T Copied from the Exome Variant Server PHYHIP_000010 11/12716 0/8482 11/4234
?/? c.864C>T r.(=) p.(=) g.22078995G>A Copied from the Exome Variant Server PHYHIP_000008 1/12706 0/8484 1/4222
?/? c.873C>T r.(=) p.(=) g.22078986G>A Copied from the Exome Variant Server PHYHIP_000013 1/12678 1/8472 0/4206
?/? c.876C>T r.(=) p.(=) g.22078983G>A Copied from the Exome Variant Server PHYHIP_000011 52/12656 0/8468 52/4188
?/? c.877G>A r.(?) p.(Asp293Asn) g.22078982C>T Copied from the Exome Variant Server PHYHIP_000009 4/12650 3/8468 1/4182
?/? c.879C>T r.(=) p.(=) g.22078980G>A Copied from the Exome Variant Server PHYHIP_000007 1/12642 1/8462 0/4180
?/? c.930G>T r.(=) p.(=) g.22078929C>A Copied from the Exome Variant Server PHYHIP_000006 1/12640 1/8440 0/4200
?/? c.939C>G r.(=) p.(=) g.22078920G>C Copied from the Exome Variant Server PHYHIP_000005 72/12628 0/8420 72/4208
?/? c.990C>T r.(=) p.(=) g.22078869G>A Copied from the Exome Variant Server PHYHIP_000004 1/12438 0/8358 1/4080
?/? c.*23C>T r.(=) p.(=) g.22078843G>A Copied from the Exome Variant Server PHYHIP_000003 3/12386 3/8324 0/4062
?/? c.*32G>A r.(=) p.(=) g.22078834C>T Copied from the Exome Variant Server PHYHIP_000002 4/12416 0/8326 4/4090
?/? c.*38C>T r.(=) p.(=) g.22078828G>A Copied from the Exome Variant Server PHYHIP_000001 5/12404 3/8322 2/4082
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