Unique variants in gene MUM1L1

Information The variants shown are described using the NM_152423.4 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.20T>A r.(?) p.(Leu7Gln) g.105449445T>A Copied from the Exome Variant Server MUM1L1_000001 65/9673 58/6442 7/3231
1 c.21A>G r.(=) p.(=) g.105449446A>G Copied from the Exome Variant Server MUM1L1_000002 58/9678 0/6445 58/3233
1 c.27C>A r.(?) p.(Asn9Lys) g.105449452C>A Copied from the Exome Variant Server MUM1L1_000003 1/9656 1/6446 0/3210
1 c.90G>T r.(?) p.(Lys30Asn) g.105449515G>T Copied from the Exome Variant Server MUM1L1_000004 3/9502 3/6377 0/3125
1 c.200C>T r.(?) p.(Ala67Val) g.105449625C>T Copied from the Exome Variant Server MUM1L1_000005 1/9656 1/6429 0/3227
1 c.236C>T r.(?) p.(Pro79Leu) g.105449661C>T Copied from the Exome Variant Server MUM1L1_000006 250/9707 2/6441 248/3266
1 c.284G>A r.(?) p.(Gly95Asp) g.105449709G>A Copied from the Exome Variant Server MUM1L1_000007 20/9720 12/6434 8/3286
1 c.364C>G r.(?) p.(Pro122Ala) g.105449789C>G Copied from the Exome Variant Server MUM1L1_000008 1/9653 0/6425 1/3228
1 c.378C>T r.(=) p.(=) g.105449803C>T Copied from the Exome Variant Server MUM1L1_000009 7/9604 7/6404 0/3200
1 c.404G>A r.(?) p.(Arg135Gln) g.105449829G>A Copied from the Exome Variant Server MUM1L1_000010 1/9608 1/6402 0/3206
1 c.418G>A r.(?) p.(Asp140Asn) g.105449843G>A Copied from the Exome Variant Server MUM1L1_000011 1/9662 0/6414 1/3248
1 c.525C>T r.(=) p.(=) g.105449950C>T Copied from the Exome Variant Server MUM1L1_000012 1/9644 1/6418 0/3226
1 c.530del r.(?) p.(Thr177Ilefs*78) g.105449955del Copied from the Exome Variant Server MUM1L1_000013 1/9314 0/6186 1/3128
1 c.537A>T r.(=) p.(=) g.105449962A>T Copied from the Exome Variant Server MUM1L1_000014 2/9630 0/6426 2/3204
1 c.546G>A r.(=) p.(=) g.105449971G>A Copied from the Exome Variant Server MUM1L1_000015 135/9620 126/6418 9/3202
1 c.579C>T r.(=) p.(=) g.105450004C>T Copied from the Exome Variant Server MUM1L1_000016 123/9590 108/6408 15/3182
1 c.580G>A r.(?) p.(Glu194Lys) g.105450005G>A Copied from the Exome Variant Server MUM1L1_000017 1/9598 1/6408 0/3190
1 c.646G>A r.(?) p.(Ala216Thr) g.105450071G>A Copied from the Exome Variant Server MUM1L1_000018 1/9721 0/6457 1/3264
1 c.648A>G r.(=) p.(=) g.105450073A>G Copied from the Exome Variant Server MUM1L1_000019 1/9721 1/6459 0/3262
1 c.649G>C r.(?) p.(Val217Leu) g.105450074G>C Copied from the Exome Variant Server MUM1L1_000020 1/9730 1/6462 0/3268
1 c.752C>T r.(?) p.(Pro251Leu) g.105450177C>T Copied from the Exome Variant Server MUM1L1_000021 1/9724 0/6442 1/3282
1 c.774C>T r.(=) p.(=) g.105450199C>T Copied from the Exome Variant Server MUM1L1_000022 1/9690 0/6438 1/3252
1 c.775G>A r.(?) p.(Glu259Lys) g.105450200G>A Copied from the Exome Variant Server MUM1L1_000023 4/9684 0/6440 4/3244
1 c.809C>G r.(?) p.(Ser270Cys) g.105450234C>G Copied from the Exome Variant Server MUM1L1_000024 1/9602 1/6422 0/3180
1 c.878C>T r.(?) p.(Thr293Ile) g.105450303C>T Copied from the Exome Variant Server MUM1L1_000025 1/9665 1/6439 0/3226
1 c.938G>A r.(?) p.(Cys313Tyr) g.105450363G>A Copied from the Exome Variant Server MUM1L1_000026 2/9685 2/6452 0/3233
1 c.1001T>C r.(?) p.(Met334Thr) g.105450426T>C Copied from the Exome Variant Server MUM1L1_000027 18/9509 17/6384 1/3125
1 c.1003A>G r.(?) p.(Ser335Gly) g.105450428A>G Copied from the Exome Variant Server MUM1L1_000028 1/9503 1/6385 0/3118
1 c.1102C>T r.(=) p.(=) g.105450527C>T Copied from the Exome Variant Server MUM1L1_000029 1/9563 1/6405 0/3158
1 c.1114G>T r.(?) p.(Asp372Tyr) g.105450539G>T Copied from the Exome Variant Server MUM1L1_000030 1/9560 1/6410 0/3150
1 c.1125C>T r.(=) p.(=) g.105450550C>T Copied from the Exome Variant Server MUM1L1_000031 1/9553 1/6407 0/3146
1 c.1139G>A r.(?) p.(Arg380His) g.105450564G>A Copied from the Exome Variant Server MUM1L1_000032 1/9562 0/6412 1/3150
1 c.1144A>G r.(?) p.(Ile382Val) g.105450569A>G Copied from the Exome Variant Server MUM1L1_000033 1/9567 0/6415 1/3152
1 c.1206A>G r.(=) p.(=) g.105450631A>G Copied from the Exome Variant Server MUM1L1_000034 11/9483 0/6386 11/3097
1 c.1386T>C r.(=) p.(=) g.105450811T>C Copied from the Exome Variant Server MUM1L1_000035 1/9502 1/6380 0/3122
1 c.1567A>G r.(?) p.(Arg523Gly) g.105450992A>G Copied from the Exome Variant Server MUM1L1_000036 2/9512 2/6396 0/3116
1 c.1569G>A r.(=) p.(=) g.105450994G>A Copied from the Exome Variant Server MUM1L1_000037 1/9513 1/6397 0/3116
1 c.1579G>A r.(?) p.(Ala527Thr) g.105451004G>A Copied from the Exome Variant Server MUM1L1_000038 1/9537 0/6393 1/3144
1 c.1662G>A r.(=) p.(=) g.105451087G>A Copied from the Exome Variant Server MUM1L1_000039 1/9567 0/6397 1/3170
1 c.1666C>T r.(=) p.(=) g.105451091C>T Copied from the Exome Variant Server MUM1L1_000040 1/9570 1/6394 0/3176
1 c.1750A>G r.(?) p.(Lys584Glu) g.105451175A>G Copied from the Exome Variant Server MUM1L1_000041 1/9553 0/6401 1/3152
1 c.1827G>C r.(=) p.(=) g.105451252G>C Copied from the Exome Variant Server MUM1L1_000042 1/9525 1/6399 0/3126
1 c.1862A>T r.(?) p.(Asp621Val) g.105451287A>T Copied from the Exome Variant Server MUM1L1_000043 1/9451 1/6372 0/3079
1 c.1942T>G r.(?) p.(Ser648Ala) g.105451367T>G Copied from the Exome Variant Server MUM1L1_000044 1/9028 0/6092 1/2936
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