14 | g.49621758_49621764dup | CA2530660219 | MGAT2 | c.490_496dup (p.Gly166AspfsTer23)
| |
14 | g.49621761G>A | CA389619234 | MGAT2 | c.493G>A (p.Ala165Thr)
| |
14 | g.49621761G>C | CA389619235 | MGAT2 | c.493G>C (p.Ala165Pro)
| gnomAD v4 |
14 | g.49621761G= | CA2135804607 | MGAT2 | c.493G= (p.Ala165=)
| |
14 | g.49621761G>T | CA389619236 | MGAT2 | c.493G>T (p.Ala165Ser)
| dbSNP |
14 | g.49621762C>A | CA389619238 | MGAT2 | c.494C>A (p.Ala165Asp)
| |
14 | g.49621762C>G | CA389619242 | MGAT2 | c.494C>G (p.Ala165Gly)
| gnomAD v4 |
14 | g.49621762C>T | CA389619240 | MGAT2 | c.494C>T (p.Ala165Val)
| |
14 | g.49621763C>A | CA486350064 | MGAT2 | c.495C>A (p.Ala165=)
| dbSNP gnomAD v2 gnomAD v4 |
14 | g.49621763C= | CA2135804609 | MGAT2 | c.495C= (p.Ala165=)
| |
14 | g.49621763C>G | CA486350067 | MGAT2 | c.495C>G (p.Ala165=)
| gnomAD v3 gnomAD v4 |
14 | g.49621763C>T | CA7172559 | MGAT2 | c.495C>T (p.Ala165=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.49621764G>A | CA7172561 | MGAT2 | c.496G>A (p.Gly166Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.49621764G>C | CA389619245 | MGAT2 | c.496G>C (p.Gly166Arg)
| |
14 | g.49621764G= | CA2135804612 | MGAT2 | c.496G= (p.Gly166=)
| |
14 | g.49621764G>T | CA7172560 | MGAT2 | c.496G>T (p.Gly166Trp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.49621767dup | CA2135804613 | MGAT2 | c.499dup (p.Val167GlyfsTer20)
| dbSNP |
14 | g.49621767del | CA2553065471 | MGAT2 | c.499del (p.Val167Ter)
| gnomAD v4 |
14 | g.49621765G>A | CA389619255 | MGAT2 | c.497G>A (p.Gly166Glu)
| |
14 | g.49621765G>C | CA389619257 | MGAT2 | c.497G>C (p.Gly166Ala)
| dbSNP gnomAD v3 gnomAD v4 |
14 | g.49621765G= | CA2135804617 | MGAT2 | c.497G= (p.Gly166=)
| |
14 | g.49621765G>T | CA389619259 | MGAT2 | c.497G>T (p.Gly166Val)
| dbSNP |
14 | g.49621766G>A | CA486350076 | MGAT2 | c.498G>A (p.Gly166=)
| dbSNP |
14 | g.49621766G>C | CA486350078 | MGAT2 | c.498G>C (p.Gly166=)
| |
14 | g.49621766G>T | CA486350079 | MGAT2 | c.498G>T (p.Gly166=)
| gnomAD v4 COSMIC |
14 | g.49621767G>A | CA389619261 | MGAT2 | c.499G>A (p.Val167Met)
| |
14 | g.49621767G>C | CA389619263 | MGAT2 | c.499G>C (p.Val167Leu)
| |
14 | g.49621767G= | CA2135804620 | MGAT2 | c.499G= (p.Val167=)
| |
14 | g.49621767G>T | CA389619264 | MGAT2 | c.499G>T (p.Val167Leu)
| dbSNP gnomAD v2 gnomAD v4 |
14 | g.49621768T>A | CA389619266 | MGAT2 | c.500T>A (p.Val167Glu)
| |
14 | g.49621768T>C | CA389619267 | MGAT2 | c.500T>C (p.Val167Ala)
| |
14 | g.49621768T>G | CA389619269 | MGAT2 | c.500T>G (p.Val167Gly)
| dbSNP |
14 | g.49621768T= | CA2135804624 | MGAT2 | c.500T= (p.Val167=)
| |
14 | g.49621769G>A | CA486350082 | MGAT2 | c.501G>A (p.Val167=)
| |
14 | g.49621769G>C | CA486350083 | MGAT2 | c.501G>C (p.Val167=)
| |
14 | g.49621769G>T | CA486350085 | MGAT2 | c.501G>T (p.Val167=)
| |
14 | g.49621770A>C | CA389619274 | MGAT2 | c.502A>C (p.Asn168His)
| |
14 | g.49621770A>G | CA389619271 | MGAT2 | c.502A>G (p.Asn168Asp)
| |
14 | g.49621770A>T | CA389619272 | MGAT2 | c.502A>T (p.Asn168Tyr)
| |
14 | g.49621771A>C | CA389619276 | MGAT2 | c.503A>C (p.Asn168Thr)
| |
14 | g.49621771A>G | CA389619278 | MGAT2 | c.503A>G (p.Asn168Ser)
| |
14 | g.49621771A>T | CA389619280 | MGAT2 | c.503A>T (p.Asn168Ile)
| |
14 | g.49621772T>A | CA389619282 | MGAT2 | c.504T>A (p.Asn168Lys)
| |
14 | g.49621772T>C | CA486350088 | MGAT2 | c.504T>C (p.Asn168=)
| dbSNP gnomAD v3 gnomAD v4 |
14 | g.49621772T>G | CA389619284 | MGAT2 | c.504T>G (p.Asn168Lys)
| |
14 | g.49621772T= | CA2135804625 | MGAT2 | c.504T= (p.Asn168=)
| |
14 | g.49621773T>A | CA389619286 | MGAT2 | c.505T>A (p.Phe169Ile)
| |
14 | g.49621773T>C | CA389619288 | MGAT2 | c.505T>C (p.Phe169Leu)
| |
14 | g.49621773T>G | CA389619289 | MGAT2 | c.505T>G (p.Phe169Val)
| |
14 | g.49621774T>A | CA389619290 | MGAT2 | c.506T>A (p.Phe169Tyr)
| |
14 | g.49621774T>C | CA389619292 | MGAT2 | c.506T>C (p.Phe169Ser)
| |
14 | g.49621774T>G | CA389619294 | MGAT2 | c.506T>G (p.Phe169Cys)
| |
14 | g.49621776_49621779del | CA2624726675 | MGAT2 | c.508_511del (p.Cys170ArgfsTer?)
| gnomAD v4 |
14 | g.49621775C>A | CA389619298 | MGAT2 | c.507C>A (p.Phe169Leu)
| |
14 | g.49621775C>G | CA389619296 | MGAT2 | c.507C>G (p.Phe169Leu)
| |
14 | g.49621775C>T | CA486350093 | MGAT2 | c.507C>T (p.Phe169=)
| COSMIC |
14 | g.49621776T>A | CA389619301 | MGAT2 | c.508T>A (p.Cys170Ser)
| |
14 | g.49621776T>C | CA389619302 | MGAT2 | c.508T>C (p.Cys170Arg)
| |
14 | g.49621776T>G | CA389619305 | MGAT2 | c.508T>G (p.Cys170Gly)
| |
14 | g.49621777G>A | CA7172562 | MGAT2 | c.509G>A (p.Cys170Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.49621777G>C | CA389619307 | MGAT2 | c.509G>C (p.Cys170Ser)
| dbSNP gnomAD v4 |
14 | g.49621777G= | CA2135804627 | MGAT2 | c.509G= (p.Cys170=)
| |
14 | g.49621777G>T | CA389619308 | MGAT2 | c.509G>T (p.Cys170Phe)
| |
14 | g.49621778T>A | CA389619311 | MGAT2 | c.510T>A (p.Cys170Ter)
| COSMIC |
14 | g.49621778T>C | CA486350103 | MGAT2 | c.510T>C (p.Cys170=)
| |
14 | g.49621778T>G | CA389619310 | MGAT2 | c.510T>G (p.Cys170Trp)
| |
14 | g.49621779C>A | CA389619314 | MGAT2 | c.511C>A (p.Pro171Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.49621779C= | CA2135804630 | MGAT2 | c.511C= (p.Pro171=)
| |
14 | g.49621779C>G | CA389619315 | MGAT2 | c.511C>G (p.Pro171Ala)
| |
14 | g.49621779C>T | CA389619316 | MGAT2 | c.511C>T (p.Pro171Ser)
| |
14 | g.49621780C>A | CA389619319 | MGAT2 | c.512C>A (p.Pro171Gln)
| |
14 | g.49621780C= | CA2135804633 | MGAT2 | c.512C= (p.Pro171=)
| |
14 | g.49621780C>G | CA260660696 | MGAT2 | c.512C>G (p.Pro171Arg)
| dbSNP |
14 | g.49621780C>T | CA389619321 | MGAT2 | c.512C>T (p.Pro171Leu)
| gnomAD v4 |
14 | g.49621781G>A | CA486350120 | MGAT2 | c.513G>A (p.Pro171=)
| |
14 | g.49621781G>C | CA486350119 | MGAT2 | c.513G>C (p.Pro171=)
| gnomAD v4 |
14 | g.49621781G>T | CA486350118 | MGAT2 | c.513G>T (p.Pro171=)
| gnomAD v4 COSMIC |
14 | g.49621782del | CA2801518199 | MGAT2 | c.514del (p.Val172PhefsTer?)
| |
14 | g.49621782G>A | CA7172563 | MGAT2 | c.514G>A (p.Val172Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.49621782G>C | CA389619326 | MGAT2 | c.514G>C (p.Val172Leu)
| dbSNP gnomAD v3 gnomAD v4 |
14 | g.49621782G= | CA2135804636 | MGAT2 | c.514G= (p.Val172=)
| |
14 | g.49621782G>T | CA389619324 | MGAT2 | c.514G>T (p.Val172Phe)
| COSMIC |
14 | g.49621783T>A | CA389619327 | MGAT2 | c.515T>A (p.Val172Asp)
| |
14 | g.49621783T>C | CA7172564 | MGAT2 | c.515T>C (p.Val172Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.49621783T>G | CA389619328 | MGAT2 | c.515T>G (p.Val172Gly)
| |
14 | g.49621783T= | CA2135804640 | MGAT2 | c.515T= (p.Val172=)
| |
14 | g.49621784T>A | CA486350124 | MGAT2 | c.516T>A (p.Val172=)
| dbSNP gnomAD v2 gnomAD v4 |
14 | g.49621784T>C | CA486350128 | MGAT2 | c.516T>C (p.Val172=)
| |
14 | g.49621784T>G | CA486350127 | MGAT2 | c.516T>G (p.Val172=)
| |
14 | g.49621784T= | CA2135804641 | MGAT2 | c.516T= (p.Val172=)
| |
14 | g.49621785C>A | CA7172565 | MGAT2 | c.517C>A (p.Leu173Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.49621785C= | CA2135804643 | MGAT2 | c.517C= (p.Leu173=)
| |
14 | g.49621785C>G | CA389619329 | MGAT2 | c.517C>G (p.Leu173Val)
| |
14 | g.49621785C>T | CA486350130 | MGAT2 | c.517C>T (p.Leu173=)
| gnomAD v4 |
14 | g.49621786T>A | CA389619330 | MGAT2 | c.518T>A (p.Leu173Gln)
| |
14 | g.49621786T>C | CA389619331 | MGAT2 | c.518T>C (p.Leu173Pro)
| |
14 | g.49621786T>G | CA389619332 | MGAT2 | c.518T>G (p.Leu173Arg)
| |
14 | g.49621787G>A | CA486350131 | MGAT2 | c.519G>A (p.Leu173=)
| gnomAD v4 |
14 | g.49621787G>C | CA486350132 | MGAT2 | c.519G>C (p.Leu173=)
| |
14 | g.49621787G>T | CA486350134 | MGAT2 | c.519G>T (p.Leu173=)
| |
14 | g.49621788C>A | CA389619333 | MGAT2 | c.520C>A (p.Gln174Lys)
| |
14 | g.49621788C>G | CA389619334 | MGAT2 | c.520C>G (p.Gln174Glu)
| |
14 | g.49621788C>T | CA389619335 | MGAT2 | c.520C>T (p.Gln174Ter)
| |
14 | g.49621789A>C | CA389619337 | MGAT2 | c.521A>C (p.Gln174Pro)
| |
14 | g.49621789A>G | CA389619338 | MGAT2 | c.521A>G (p.Gln174Arg)
| |
14 | g.49621789A>T | CA389619336 | MGAT2 | c.521A>T (p.Gln174Leu)
| |
14 | g.49621790G>A | CA486350139 | MGAT2 | c.522G>A (p.Gln174=)
| |
14 | g.49621790G>C | CA389619340 | MGAT2 | c.522G>C (p.Gln174His)
| |
14 | g.49621790G>T | CA389619339 | MGAT2 | c.522G>T (p.Gln174His)
| |
14 | g.49621790_49621791del | CA2624726676 | MGAT2 | c.522_523del (p.Gln174HisfsTer12)
| gnomAD v4 |
14 | g.49621791G>A | CA389619341 | MGAT2 | c.523G>A (p.Val175Met)
| |
14 | g.49621791G>C | CA389619342 | MGAT2 | c.523G>C (p.Val175Leu)
| gnomAD v4 |
14 | g.49621791G>T | CA389619343 | MGAT2 | c.523G>T (p.Val175Leu)
| |
14 | g.49621792T>A | CA389619344 | MGAT2 | c.524T>A (p.Val175Glu)
| |
14 | g.49621792T>C | CA389619345 | MGAT2 | c.524T>C (p.Val175Ala)
| |
14 | g.49621792T>G | CA389619346 | MGAT2 | c.524T>G (p.Val175Gly)
| |
14 | g.49621793G>A | CA486350145 | MGAT2 | c.525G>A (p.Val175=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.49621793G>C | CA486350148 | MGAT2 | c.525G>C (p.Val175=)
| |
14 | g.49621793G= | CA2135804644 | MGAT2 | c.525G= (p.Val175=)
| |
14 | g.49621793G>T | CA486350151 | MGAT2 | c.525G>T (p.Val175=)
| |
14 | g.49621794T>A | CA389619348 | MGAT2 | c.526T>A (p.Phe176Ile)
| |
14 | g.49621794T>C | CA389619347 | MGAT2 | c.526T>C (p.Phe176Leu)
| |
14 | g.49621794T>G | CA260660703 | MGAT2 | c.526T>G (p.Phe176Val)
| dbSNP |
14 | g.49621794T= | CA2135804646 | MGAT2 | c.526T= (p.Phe176=)
| |
14 | g.49621794_49621796delinsTTC | CA2135804650 | MGAT2 | c.526_528delinsTTC (p.Phe176=)
| |
14 | g.49621795T>A | CA389619349 | MGAT2 | c.527T>A (p.Phe176Tyr)
| gnomAD v4 |
14 | g.49621795T>C | CA389619350 | MGAT2 | c.527T>C (p.Phe176Ser)
| gnomAD v4 |
14 | g.49621795T>G | CA389619351 | MGAT2 | c.527T>G (p.Phe176Cys)
| |
14 | g.49621796_49621797del | CA2135804654 | MGAT2 | c.528_529del (p.Phe177SerfsTer9)
| dbSNP |
14 | g.49621796C>A | CA389619352 | MGAT2 | c.528C>A (p.Phe176Leu)
| |
14 | g.49621796C>G | CA389619353 | MGAT2 | c.528C>G (p.Phe176Leu)
| COSMIC |
14 | g.49621796C>T | CA486350153 | MGAT2 | c.528C>T (p.Phe176=)
| gnomAD v4 |
14 | g.49621797T>A | CA389619354 | MGAT2 | c.529T>A (p.Phe177Ile)
| |
14 | g.49621797T>C | CA389619356 | MGAT2 | c.529T>C (p.Phe177Leu)
| |
14 | g.49621797T>G | CA389619355 | MGAT2 | c.529T>G (p.Phe177Val)
| |
14 | g.49621798T>A | CA389619357 | MGAT2 | c.530T>A (p.Phe177Tyr)
| |
14 | g.49621798T>C | CA389619358 | MGAT2 | c.530T>C (p.Phe177Ser)
| |
14 | g.49621798T>G | CA389619359 | MGAT2 | c.530T>G (p.Phe177Cys)
| |
14 | g.49621799T>A | CA389619360 | MGAT2 | c.531T>A (p.Phe177Leu)
| |
14 | g.49621799T>C | CA7172566 | MGAT2 | c.531T>C (p.Phe177=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.49621799T>G | CA389619361 | MGAT2 | c.531T>G (p.Phe177Leu)
| dbSNP gnomAD v2 gnomAD v4 |
14 | g.49621799T= | CA2135804657 | MGAT2 | c.531T= (p.Phe177=)
| |
14 | g.49621800C>A | CA389619362 | MGAT2 | c.532C>A (p.Pro178Thr)
| |
14 | g.49621800C>G | CA389619363 | MGAT2 | c.532C>G (p.Pro178Ala)
| |
14 | g.49621800C>T | CA389619364 | MGAT2 | c.532C>T (p.Pro178Ser)
| |
14 | g.49621801C>A | CA389619365 | MGAT2 | c.533C>A (p.Pro178His)
| |
14 | g.49621801C>G | CA389619366 | MGAT2 | c.533C>G (p.Pro178Arg)
| |
14 | g.49621801C>T | CA389619367 | MGAT2 | c.533C>T (p.Pro178Leu)
| |
14 | g.49621802T>A | CA486350163 | MGAT2 | c.534T>A (p.Pro178=)
| |
14 | g.49621802T>C | CA486350165 | MGAT2 | c.534T>C (p.Pro178=)
| |
14 | g.49621802T>G | CA486350166 | MGAT2 | c.534T>G (p.Pro178=)
| |
14 | g.49621803T>A | CA389619368 | MGAT2 | c.535T>A (p.Phe179Ile)
| |
14 | g.49621803T>C | CA389619370 | MGAT2 | c.535T>C (p.Phe179Leu)
| |
14 | g.49621803T>G | CA389619369 | MGAT2 | c.535T>G (p.Phe179Val)
| |
14 | g.49621804T>A | CA389619371 | MGAT2 | c.536T>A (p.Phe179Tyr)
| |
14 | g.49621804T>C | CA389619372 | MGAT2 | c.536T>C (p.Phe179Ser)
| |
14 | g.49621804T>G | CA389619373 | MGAT2 | c.536T>G (p.Phe179Cys)
| |
14 | g.49621805C>A | CA389619374 | MGAT2 | c.537C>A (p.Phe179Leu)
| |
14 | g.49621805C= | CA2135804659 | MGAT2 | c.537C= (p.Phe179=)
| |
14 | g.49621805C>G | CA389619375 | MGAT2 | c.537C>G (p.Phe179Leu)
| |
14 | g.49621805C>T | CA486350168 | MGAT2 | c.537C>T (p.Phe179=)
| dbSNP gnomAD v3 gnomAD v4 |
14 | g.49621806A= | CA2135804660 | MGAT2 | c.538A= (p.Ser180=)
| |
14 | g.49621806A>C | CA389619376 | MGAT2 | c.538A>C (p.Ser180Arg)
| |
14 | g.49621806A>G | CA7172567 | MGAT2 | c.538A>G (p.Ser180Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.49621806A>T | CA389619377 | MGAT2 | c.538A>T (p.Ser180Cys)
| |
14 | g.49621807G>A | CA389619378 | MGAT2 | c.539G>A (p.Ser180Asn)
| |
14 | g.49621807G>C | CA389619379 | MGAT2 | c.539G>C (p.Ser180Thr)
| |
14 | g.49621807G>T | CA389619380 | MGAT2 | c.539G>T (p.Ser180Ile)
| |
14 | g.49621808C>A | CA389619381 | MGAT2 | c.540C>A (p.Ser180Arg)
| |
14 | g.49621808C>G | CA389619382 | MGAT2 | c.540C>G (p.Ser180Arg)
| |
14 | g.49621808C>T | CA486350174 | MGAT2 | c.540C>T (p.Ser180=)
| gnomAD v4 |
14 | g.49621809A= | CA2135804661 | MGAT2 | c.541A= (p.Ile181=)
| |
14 | g.49621809A>C | CA389619385 | MGAT2 | c.541A>C (p.Ile181Leu)
| |
14 | g.49621809A>G | CA389619383 | MGAT2 | c.541A>G (p.Ile181Val)
| dbSNP gnomAD v4 |
14 | g.49621809A>T | CA389619384 | MGAT2 | c.541A>T (p.Ile181Phe)
| |
14 | g.49621810T>A | CA389619386 | MGAT2 | c.542T>A (p.Ile181Asn)
| |
14 | g.49621810T>C | CA389619387 | MGAT2 | c.542T>C (p.Ile181Thr)
| |
14 | g.49621810T>G | CA389619388 | MGAT2 | c.542T>G (p.Ile181Ser)
| |
14 | g.49621811T>A | CA486350178 | MGAT2 | c.543T>A (p.Ile181=)
| |
14 | g.49621811T>C | CA486350179 | MGAT2 | c.543T>C (p.Ile181=)
| |
14 | g.49621811T>G | CA389619389 | MGAT2 | c.543T>G (p.Ile181Met)
| |
14 | g.49621812C>A | CA389619390 | MGAT2 | c.544C>A (p.Gln182Lys)
| |
14 | g.49621812C= | CA2135804665 | MGAT2 | c.544C= (p.Gln182=)
| |
14 | g.49621812C>G | CA7172568 | MGAT2 | c.544C>G (p.Gln182Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.49621812C>T | CA389619391 | MGAT2 | c.544C>T (p.Gln182Ter)
| |
14 | g.49621813A= | CA2135804671 | MGAT2 | c.545A= (p.Gln182=)
| |
14 | g.49621813A>C | CA389619392 | MGAT2 | c.545A>C (p.Gln182Pro)
| |
14 | g.49621813A>G | CA7172569 | MGAT2 | c.545A>G (p.Gln182Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.49621813A>T | CA389619393 | MGAT2 | c.545A>T (p.Gln182Leu)
| |
14 | g.49621814G>A | CA486350190 | MGAT2 | c.546G>A (p.Gln182=)
| dbSNP |
14 | g.49621814G>C | CA389619394 | MGAT2 | c.546G>C (p.Gln182His)
| dbSNP gnomAD v3 gnomAD v4 |
14 | g.49621814G= | CA2135804672 | MGAT2 | c.546G= (p.Gln182=)
| |
14 | g.49621814G>T | CA7172570 | MGAT2 | c.546G>T (p.Gln182His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.49621815T>A | CA389619395 | MGAT2 | c.547T>A (p.Leu183Met)
| |
14 | g.49621815T>C | CA486350191 | MGAT2 | c.547T>C (p.Leu183=)
| |
14 | g.49621815T>G | CA389619396 | MGAT2 | c.547T>G (p.Leu183Val)
| |
14 | g.49621816T>A | CA389619397 | MGAT2 | c.548T>A (p.Leu183Ter)
| |
14 | g.49621816T>C | CA389619398 | MGAT2 | c.548T>C (p.Leu183Ser)
| gnomAD v4 |
14 | g.49621816T>G | CA389619399 | MGAT2 | c.548T>G (p.Leu183Trp)
| |
14 | g.49621817G>A | CA486350194 | MGAT2 | c.549G>A (p.Leu183=)
| |
14 | g.49621817G>C | CA389619400 | MGAT2 | c.549G>C (p.Leu183Phe)
| |
14 | g.49621817G= | CA2135804675 | MGAT2 | c.549G= (p.Leu183=)
| |
14 | g.49621817G>T | CA389619401 | MGAT2 | c.549G>T (p.Leu183Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.49621818T>A | CA389619402 | MGAT2 | c.550T>A (p.Tyr184Asn)
| |
14 | g.49621818T>C | CA389619403 | MGAT2 | c.550T>C (p.Tyr184His)
| dbSNP gnomAD v4 |
14 | g.49621818T>G | CA389619404 | MGAT2 | c.550T>G (p.Tyr184Asp)
| dbSNP gnomAD v2 gnomAD v4 |
14 | g.49621818T= | CA2135804676 | MGAT2 | c.550T= (p.Tyr184=)
| |
14 | g.49621819A>C | CA389619405 | MGAT2 | c.551A>C (p.Tyr184Ser)
| |
14 | g.49621819A>G | CA389619406 | MGAT2 | c.551A>G (p.Tyr184Cys)
| |
14 | g.49621819A>T | CA389619407 | MGAT2 | c.551A>T (p.Tyr184Phe)
| |
14 | g.49621820C>A | CA389619408 | MGAT2 | c.552C>A (p.Tyr184Ter)
| |
14 | g.49621820C>G | CA389619409 | MGAT2 | c.552C>G (p.Tyr184Ter)
| |
14 | g.49621820C>T | CA486350201 | MGAT2 | c.552C>T (p.Tyr184=)
| gnomAD v4 COSMIC |
14 | g.49621821C>A | CA389619412 | MGAT2 | c.553C>A (p.Pro185Thr)
| |
14 | g.49621821C= | CA2135804677 | MGAT2 | c.553C= (p.Pro185=)
| |
14 | g.49621821C>G | CA389619411 | MGAT2 | c.553C>G (p.Pro185Ala)
| dbSNP gnomAD v3 gnomAD v4 |
14 | g.49621821C>T | CA389619410 | MGAT2 | c.553C>T (p.Pro185Ser)
| |
14 | g.49621822C>A | CA389619413 | MGAT2 | c.554C>A (p.Pro185His)
| |
14 | g.49621822C= | CA2135804678 | MGAT2 | c.554C= (p.Pro185=)
| |
14 | g.49621822C>G | CA389619414 | MGAT2 | c.554C>G (p.Pro185Arg)
| |
14 | g.49621822C>T | CA7172571 | MGAT2 | c.554C>T (p.Pro185Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.49621823T>A | CA486350204 | MGAT2 | c.555T>A (p.Pro185=)
| |
14 | g.49621823T>C | CA486350205 | MGAT2 | c.555T>C (p.Pro185=)
| |
14 | g.49621823T>G | CA486350206 | MGAT2 | c.555T>G (p.Pro185=)
| |
14 | g.49621824A>C | CA389619415 | MGAT2 | c.556A>C (p.Asn186His)
| |
14 | g.49621824A>G | CA389619416 | MGAT2 | c.556A>G (p.Asn186Asp)
| gnomAD v4 |
14 | g.49621824A>T | CA389619417 | MGAT2 | c.556A>T (p.Asn186Tyr)
| |
14 | g.49621825A>C | CA389619418 | MGAT2 | c.557A>C (p.Asn186Thr)
| |
14 | g.49621825A>G | CA389619419 | MGAT2 | c.557A>G (p.Asn186Ser)
| |
14 | g.49621825A>T | CA389619420 | MGAT2 | c.557A>T (p.Asn186Ile)
| |
14 | g.49621826C>A | CA389619421 | MGAT2 | c.558C>A (p.Asn186Lys)
| |
14 | g.49621826C= | CA2135804679 | MGAT2 | c.558C= (p.Asn186=)
| |
14 | g.49621826C>G | CA7172572 | MGAT2 | c.558C>G (p.Asn186Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.49621826C>T | CA486350209 | MGAT2 | c.558C>T (p.Asn186=)
| |
14 | g.49621827G>A | CA389619422 | MGAT2 | c.559G>A (p.Glu187Lys)
| |
14 | g.49621827G>C | CA389619423 | MGAT2 | c.559G>C (p.Glu187Gln)
| dbSNP gnomAD v4 COSMIC |
14 | g.49621827G= | CA2135804683 | MGAT2 | c.559G= (p.Glu187=)
| |
14 | g.49621827G>T | CA389619424 | MGAT2 | c.559G>T (p.Glu187Ter)
| |
14 | g.49621828A>C | CA389619426 | MGAT2 | c.560A>C (p.Glu187Ala)
| |
14 | g.49621828A>G | CA389619427 | MGAT2 | c.560A>G (p.Glu187Gly)
| gnomAD v4 |
14 | g.49621828A>T | CA389619425 | MGAT2 | c.560A>T (p.Glu187Val)
| |
14 | g.49621829G>A | CA486350215 | MGAT2 | c.561G>A (p.Glu187=)
| gnomAD v4 |
14 | g.49621829G>C | CA389619428 | MGAT2 | c.561G>C (p.Glu187Asp)
| gnomAD v4 |
14 | g.49621829G>T | CA389619429 | MGAT2 | c.561G>T (p.Glu187Asp)
| gnomAD v4 COSMIC |
14 | g.49621830T>A | CA389619430 | MGAT2 | c.562T>A (p.Phe188Ile)
| |
14 | g.49621830T>C | CA389619431 | MGAT2 | c.562T>C (p.Phe188Leu)
| |
14 | g.49621830T>G | CA389619432 | MGAT2 | c.562T>G (p.Phe188Val)
| |
14 | g.49621831T>A | CA389619433 | MGAT2 | c.563T>A (p.Phe188Tyr)
| |
14 | g.49621831T>C | CA389619434 | MGAT2 | c.563T>C (p.Phe188Ser)
| |
14 | g.49621831T>G | CA389619435 | MGAT2 | c.563T>G (p.Phe188Cys)
| |
14 | g.49621832T>A | CA389619436 | MGAT2 | c.564T>A (p.Phe188Leu)
| |
14 | g.49621832T>C | CA486350223 | MGAT2 | c.564T>C (p.Phe188=)
| |
14 | g.49621832T>G | CA389619437 | MGAT2 | c.564T>G (p.Phe188Leu)
| |
14 | g.49621833C>A | CA389619438 | MGAT2 | c.565C>A (p.Pro189Thr)
| gnomAD v4 |
14 | g.49621833C>G | CA389619439 | MGAT2 | c.565C>G (p.Pro189Ala)
| |
14 | g.49621833C>T | CA389619440 | MGAT2 | c.565C>T (p.Pro189Ser)
| |
14 | g.49621834C>A | CA389619443 | MGAT2 | c.566C>A (p.Pro189Gln)
| |
14 | g.49621834C>G | CA389619441 | MGAT2 | c.566C>G (p.Pro189Arg)
| gnomAD v4 |
14 | g.49621834C>T | CA389619442 | MGAT2 | c.566C>T (p.Pro189Leu)
| |
14 | g.49621835A>C | CA486350228 | MGAT2 | c.567A>C (p.Pro189=)
| |
14 | g.49621835A>G | CA486350231 | MGAT2 | c.567A>G (p.Pro189=)
| gnomAD v4 COSMIC |
14 | g.49621835A>T | CA486350233 | MGAT2 | c.567A>T (p.Pro189=)
| |
14 | g.49621836G>A | CA389619444 | MGAT2 | c.568G>A (p.Gly190Ser)
| |
14 | g.49621836G>C | CA389619445 | MGAT2 | c.568G>C (p.Gly190Arg)
| gnomAD v4 |
14 | g.49621836G>T | CA389619446 | MGAT2 | c.568G>T (p.Gly190Cys)
| |
14 | g.49621837G>A | CA389619447 | MGAT2 | c.569G>A (p.Gly190Asp)
| dbSNP gnomAD v2 gnomAD v4 |
14 | g.49621837G>C | CA389619448 | MGAT2 | c.569G>C (p.Gly190Ala)
| |
14 | g.49621837G= | CA2135804689 | MGAT2 | c.569G= (p.Gly190=)
| |
14 | g.49621837G>T | CA389619449 | MGAT2 | c.569G>T (p.Gly190Val)
| dbSNP gnomAD v3 gnomAD v4 |
14 | g.49621838T>A | CA486350235 | MGAT2 | c.570T>A (p.Gly190=)
| |
14 | g.49621838T>C | CA486350236 | MGAT2 | c.570T>C (p.Gly190=)
| gnomAD v4 |
14 | g.49621838T>G | CA486350237 | MGAT2 | c.570T>G (p.Gly190=)
| |
14 | g.49621839A= | CA2135804695 | MGAT2 | c.571A= (p.Ser191=)
| |
14 | g.49621839A>C | CA389619450 | MGAT2 | c.571A>C (p.Ser191Arg)
| |
14 | g.49621839A>G | CA7172573 | MGAT2 | c.571A>G (p.Ser191Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
14 | g.49621839A>T | CA389619451 | MGAT2 | c.571A>T (p.Ser191Cys)
| |
14 | g.49621840G>A | CA7172574 | MGAT2 | c.572G>A (p.Ser191Asn)
| dbSNP ExAC gnomAD v2 |
14 | g.49621840G>C | CA389619452 | MGAT2 | c.572G>C (p.Ser191Thr)
| dbSNP |
14 | g.49621840G= | CA2135804698 | MGAT2 | c.572G= (p.Ser191=)
| |
14 | g.49621840G>T | CA389619453 | MGAT2 | c.572G>T (p.Ser191Ile)
| |
14 | g.49621841T>A | CA389619454 | MGAT2 | c.573T>A (p.Ser191Arg)
| |
14 | g.49621841T>C | CA486350246 | MGAT2 | c.573T>C (p.Ser191=)
| |
14 | g.49621841T>G | CA389619455 | MGAT2 | c.573T>G (p.Ser191Arg)
| |
14 | g.49621842G>A | CA389619456 | MGAT2 | c.574G>A (p.Asp192Asn)
| COSMIC |
14 | g.49621842G>C | CA389619458 | MGAT2 | c.574G>C (p.Asp192His)
| |
14 | g.49621842G>T | CA389619457 | MGAT2 | c.574G>T (p.Asp192Tyr)
| |
14 | g.49621843A>C | CA389619459 | MGAT2 | c.575A>C (p.Asp192Ala)
| |
14 | g.49621843A>G | CA389619461 | MGAT2 | c.575A>G (p.Asp192Gly)
| |
14 | g.49621843A>T | CA389619460 | MGAT2 | c.575A>T (p.Asp192Val)
| gnomAD v4 |
14 | g.49621844C>A | CA389619462 | MGAT2 | c.576C>A (p.Asp192Glu)
| |
14 | g.49621844C= | CA2135804701 | MGAT2 | c.576C= (p.Asp192=)
| |
14 | g.49621844C>G | CA389619463 | MGAT2 | c.576C>G (p.Asp192Glu)
| |
14 | g.49621844C>T | CA7172575 | MGAT2 | c.576C>T (p.Asp192=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.49621845C>A | CA389619464 | MGAT2 | c.577C>A (p.Pro193Thr)
| |
14 | g.49621845C= | CA2135804702 | MGAT2 | c.577C= (p.Pro193=)
| |
14 | g.49621845C>G | CA389619465 | MGAT2 | c.577C>G (p.Pro193Ala)
| dbSNP |
14 | g.49621845C>T | CA389619466 | MGAT2 | c.577C>T (p.Pro193Ser)
| |
14 | g.49621846C>A | CA389619467 | MGAT2 | c.578C>A (p.Pro193His)
| |
14 | g.49621846C= | CA2135804703 | MGAT2 | c.578C= (p.Pro193=)
| |
14 | g.49621846C>G | CA389619468 | MGAT2 | c.578C>G (p.Pro193Arg)
| dbSNP |
14 | g.49621846C>T | CA7172576 | MGAT2 | c.578C>T (p.Pro193Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.49621847T>A | CA486350264 | MGAT2 | c.579T>A (p.Pro193=)
| |
14 | g.49621847T>C | CA486350260 | MGAT2 | c.579T>C (p.Pro193=)
| dbSNP gnomAD v4 |
14 | g.49621847T>G | CA486350262 | MGAT2 | c.579T>G (p.Pro193=)
| |
14 | g.49621847T= | CA2135804704 | MGAT2 | c.579T= (p.Pro193=)
| |
14 | g.49621848A>C | CA486350265 | MGAT2 | c.580A>C (p.Arg194=)
| |
14 | g.49621848A>G | CA389619469 | MGAT2 | c.580A>G (p.Arg194Gly)
| gnomAD v4 |
14 | g.49621848A>T | CA389619470 | MGAT2 | c.580A>T (p.Arg194Ter)
| |
14 | g.49621849G>A | CA389619473 | MGAT2 | c.581G>A (p.Arg194Lys)
| |
14 | g.49621849G>C | CA389619471 | MGAT2 | c.581G>C (p.Arg194Thr)
| gnomAD v4 COSMIC |
14 | g.49621849G>T | CA389619472 | MGAT2 | c.581G>T (p.Arg194Ile)
| |
14 | g.49621850A= | CA2135804705 | MGAT2 | c.582A= (p.Arg194=)
| |
14 | g.49621850A>C | CA389619474 | MGAT2 | c.582A>C (p.Arg194Ser)
| gnomAD v4 |
14 | g.49621850A>G | CA486350273 | MGAT2 | c.582A>G (p.Arg194=)
| dbSNP |
14 | g.49621850A>T | CA389619475 | MGAT2 | c.582A>T (p.Arg194Ser)
| |
14 | g.49621851G>A | CA389619476 | MGAT2 | c.583G>A (p.Asp195Asn)
| |
14 | g.49621851G>C | CA389619477 | MGAT2 | c.583G>C (p.Asp195His)
| |
14 | g.49621851G>T | CA389619478 | MGAT2 | c.583G>T (p.Asp195Tyr)
| gnomAD v4 |
14 | g.49621852A>C | CA389619479 | MGAT2 | c.584A>C (p.Asp195Ala)
| |
14 | g.49621852A>G | CA389619480 | MGAT2 | c.584A>G (p.Asp195Gly)
| |
14 | g.49621852A>T | CA389619481 | MGAT2 | c.584A>T (p.Asp195Val)
| |
14 | g.49621853T>A | CA389619482 | MGAT2 | c.585T>A (p.Asp195Glu)
| |
14 | g.49621853T>C | CA486350274 | MGAT2 | c.585T>C (p.Asp195=)
| gnomAD v4 |
14 | g.49621853T>G | CA389619483 | MGAT2 | c.585T>G (p.Asp195Glu)
| |
14 | g.49621853_49621854del | CA912979636 | MGAT2 | c.585_586del (p.Asp195GlufsTer19)
| |
14 | g.49621854T>A | CA389619485 | MGAT2 | c.586T>A (p.Cys196Ser)
| |
14 | g.49621854T>C | CA389619486 | MGAT2 | c.586T>C (p.Cys196Arg)
| |
14 | g.49621854T>G | CA389619484 | MGAT2 | c.586T>G (p.Cys196Gly)
| |
14 | g.49621854_49621857dup | CA2832562020 | MGAT2 | c.586_589dup (p.Pro197LeufsTer19)
| |
14 | g.49621855G>A | CA389619487 | MGAT2 | c.587G>A (p.Cys196Tyr)
| |
14 | g.49621855G>C | CA389619488 | MGAT2 | c.587G>C (p.Cys196Ser)
| |
14 | g.49621855G>T | CA389619489 | MGAT2 | c.587G>T (p.Cys196Phe)
| |
14 | g.49621856T>A | CA389619490 | MGAT2 | c.588T>A (p.Cys196Ter)
| |
14 | g.49621856T>C | CA486350285 | MGAT2 | c.588T>C (p.Cys196=)
| |
14 | g.49621856T>G | CA389619491 | MGAT2 | c.588T>G (p.Cys196Trp)
| |
14 | g.49621857C>A | CA389619493 | MGAT2 | c.589C>A (p.Pro197Thr)
| |
14 | g.49621857C= | CA2135804706 | MGAT2 | c.589C= (p.Pro197=)
| |
14 | g.49621857C>G | CA7172577 | MGAT2 | c.589C>G (p.Pro197Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.49621857C>T | CA389619492 | MGAT2 | c.589C>T (p.Pro197Ser)
| |
14 | g.49621858C>A | CA389619494 | MGAT2 | c.590C>A (p.Pro197His)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.49621858C= | CA2135804707 | MGAT2 | c.590C= (p.Pro197=)
| |
14 | g.49621858C>G | CA389619495 | MGAT2 | c.590C>G (p.Pro197Arg)
| dbSNP gnomAD v4 |
14 | g.49621858C>T | CA389619496 | MGAT2 | c.590C>T (p.Pro197Leu)
| dbSNP gnomAD v2 gnomAD v4 |
14 | g.49621859C>A | CA486350288 | MGAT2 | c.591C>A (p.Pro197=)
| |
14 | g.49621859C= | CA2135804708 | MGAT2 | c.591C= (p.Pro197=)
| |
14 | g.49621859C>G | CA486350289 | MGAT2 | c.591C>G (p.Pro197=)
| |
14 | g.49621859C>T | CA486350291 | MGAT2 | c.591C>T (p.Pro197=)
| ClinVar dbSNP gnomAD v4 |
14 | g.49621860A= | CA2135804710 | MGAT2 | c.592A= (p.Arg198=)
| |
14 | g.49621860A>C | CA486350295 | MGAT2 | c.592A>C (p.Arg198=)
| |
14 | g.49621860A>G | CA389619497 | MGAT2 | c.592A>G (p.Arg198Gly)
| dbSNP gnomAD v2 gnomAD v4 |
14 | g.49621860A>T | CA389619498 | MGAT2 | c.592A>T (p.Arg198Ter)
| |
14 | g.49621863_49621864del | CA2575517489 | MGAT2 | c.595_596del (p.Asp199ProfsTer15)
| gnomAD v4 |
14 | g.49621861G>A | CA389619499 | MGAT2 | c.593G>A (p.Arg198Lys)
| |
14 | g.49621861G>C | CA389619501 | MGAT2 | c.593G>C (p.Arg198Thr)
| |
14 | g.49621861G>T | CA389619500 | MGAT2 | c.593G>T (p.Arg198Ile)
| |