Full data view for gene RIPPLY1

Information The variants shown are described using the NM_001171706.1 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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.-5T>G r.(=) p.(=) g.106146522A>C Copied from the Exome Variant Server CLDN2_000028 1/10012 0/6532 1/3480 - - - - - - -
?/? c.-1A>T r.(=) p.(=) g.106146518T>A Copied from the Exome Variant Server CLDN2_000026 1/10027 0/6539 1/3488 - - - - - - -
?/? c.1A>G r.? p.? g.106146517T>C Copied from the Exome Variant Server CLDN2_000024 1/10050 1/6542 0/3508 - - - - - - -
?/? c.7T>C r.(?) p.(Ser3Pro) g.106146511A>G Copied from the Exome Variant Server CLDN2_000022 2/10083 1/6551 1/3532 - - - - - - -
?/? c.35C>T r.(?) p.(Pro12Leu) g.106146483G>A Copied from the Exome Variant Server CLDN2_000020 1/10134 0/6552 1/3582 - - - - - - -
?/? c.94C>A r.(?) p.(Pro32Thr) g.106146424G>T Copied from the Exome Variant Server CLDN2_000019 1/10089 1/6555 0/3534 - - - - - - -
?/? c.155+14A>G r.(=) p.(=) g.106146349T>C Copied from the Exome Variant Server CLDN2_000018 2070/9892 12/6500 2058/3392 - - - - - - -
?/? c.156-689G>A r.(=) p.(=) g.106144827C>T Copied from the Exome Variant Server CLDN2_000017 62/3600 0/2391 62/1209 - - - - - - -
?/? c.156-673A>G r.(=) p.(=) g.106144811T>C Copied from the Exome Variant Server CLDN2_000016 1/9872 1/6510 0/3362 - - - - - - -
?/? c.156-660G>T r.(=) p.(=) g.106144798C>A Copied from the Exome Variant Server CLDN2_000015 13/9928 0/6526 13/3402 - - - - - - -
?/? c.156-613G>A r.(=) p.(=) g.106144751C>T Copied from the Exome Variant Server CLDN2_000014 34/10028 1/6540 33/3488 - - - - - - -
?/? c.156-593C>T r.(=) p.(=) g.106144731G>A Copied from the Exome Variant Server CLDN2_000013 33/10049 0/6541 33/3508 - - - - - - -
?/? c.156-536G>A r.(=) p.(=) g.106144674C>T Copied from the Exome Variant Server CLDN2_000012 125/9846 1/6492 124/3354 - - - - - - -
?/? c.156-42A>G r.(=) p.(=) g.106144180T>C Copied from the Exome Variant Server CLDN2_000011 1/9512 0/6398 1/3114 - - - - - - -
?/? c.156-14T>C r.(=) p.(=) g.106144152A>G Copied from the Exome Variant Server CLDN2_000010 1/9556 1/6408 0/3148 - - - - - - -
?/? c.160T>C r.(?) p.(Phe54Leu) g.106144134A>G Copied from the Exome Variant Server CLDN2_000009 1/9612 1/6412 0/3200 - - - - - - -
?/? c.168T>C r.(=) p.(=) g.106144126A>G Copied from the Exome Variant Server CLDN2_000008 1/9637 0/6417 1/3220 - - - - - - -
?/? c.176G>A r.(?) p.(Arg59His) g.106144118C>T Copied from the Exome Variant Server CLDN2_000007 1/9674 1/6420 0/3254 - - - - - - -
?/? c.190C>T r.(=) p.(=) g.106144104G>A Copied from the Exome Variant Server CLDN2_000006 17/9691 0/6425 17/3266 - - - - - - -
?/? c.221A>G r.(?) p.(Asn74Ser) g.106144073T>C Copied from the Exome Variant Server CLDN2_000005 9/9857 9/6485 0/3372 - - - - - - -
?/? c.252C>T r.(=) p.(=) g.106144042G>A Copied from the Exome Variant Server CLDN2_000004 55/10007 0/6523 55/3484 - - - - - - -
?/? c.267C>G r.(?) p.(Ser89Arg) g.106144027G>C Copied from the Exome Variant Server CLDN2_000003 2/10079 2/6545 0/3534 - - - - - - -
?/? c.271G>A r.(?) p.(Glu91Lys) g.106144023C>T Copied from the Exome Variant Server CLDN2_000002 1/10087 1/6545 0/3542 - - - - - - -
?/? c.*3G>A r.(=) p.(=) g.106143976C>T Copied from the Exome Variant Server CLDN2_000001 1/10170 1/6574 0/3596 - - - - - - -
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