| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.11553564A= | CA2207696545 | LITAF | c.346T= (p.Trp116=) c.220+2947T= (n.220+2947T=) c.67T= (p.Trp23=) c.*159T= (n.*159T=) c.165T= n.480T= c.436T= (p.Trp146=) | |
| 16 | g.11553564A>C | CA340515 | LITAF | c.346T>G (p.Trp116Gly) c.220+2947T>G (n.220+2947T>G) c.67T>G (p.Trp23Gly) c.*159T>G (n.*159T>G) c.165T>G n.480T>G c.436T>G (p.Trp146Gly) | ClinVar dbSNP |
| 16 | g.11553564A>G | CA394765245 | LITAF | c.346T>C (p.Trp116Arg) c.220+2947T>C (n.220+2947T>C) c.67T>C (p.Trp23Arg) c.*159T>C (n.*159T>C) c.165T>C n.480T>C c.436T>C (p.Trp146Arg) | |
| 16 | g.11553564A>T | CA394765248 | LITAF | c.346T>A (p.Trp116Arg) c.220+2947T>A (n.220+2947T>A) c.67T>A (p.Trp23Arg) c.*159T>A (n.*159T>A) c.165T>A n.480T>A c.436T>A (p.Trp146Arg) | |
| 16 | g.11553565G>A | CA493626473 | LITAF | c.345C>T (p.Thr115=) c.220+2946C>T (n.220+2946C>T) c.66C>T (p.Thr22=) c.*158C>T (n.*158C>T) c.164C>T n.479C>T c.435C>T (p.Thr145=) | |
| 16 | g.11553565G>C | CA493626474 | LITAF | c.345C>G (p.Thr115=) c.220+2946C>G (n.220+2946C>G) c.66C>G (p.Thr22=) c.*158C>G (n.*158C>G) c.164C>G n.479C>G c.435C>G (p.Thr145=) | |
| 16 | g.11553565G>T | CA493626475 | LITAF | c.345C>A (p.Thr115=) c.220+2946C>A (n.220+2946C>A) c.66C>A (p.Thr22=) c.*158C>A (n.*158C>A) c.164C>A n.479C>A c.435C>A (p.Thr145=) | |
| 16 | g.11553566G>A | CA394765250 | LITAF | c.344C>T (p.Thr115Ile) c.220+2945C>T (n.220+2945C>T) c.65C>T (p.Thr22Ile) c.*157C>T (n.*157C>T) c.163C>T n.478C>T c.434C>T (p.Thr145Ile) | gnomAD v4 |
| 16 | g.11553566G>C | CA394765251 | LITAF | c.344C>G (p.Thr115Ser) c.220+2945C>G (n.220+2945C>G) c.65C>G (p.Thr22Ser) c.*157C>G (n.*157C>G) c.163C>G n.478C>G c.434C>G (p.Thr145Ser) | |
| 16 | g.11553566G= | CA2207696546 | LITAF | c.344C= (p.Thr115=) c.220+2945C= (n.220+2945C=) c.65C= (p.Thr22=) c.*157C= (n.*157C=) c.163C= n.478C= c.434C= (p.Thr145=) | |
| 16 | g.11553566G>T | CA340511 | LITAF | c.344C>A (p.Thr115Asn) c.220+2945C>A (n.220+2945C>A) c.65C>A (p.Thr22Asn) c.*157C>A (n.*157C>A) c.163C>A n.478C>A c.434C>A (p.Thr145Asn) | ClinVar dbSNP |
| 16 | g.11553567T>A | CA394765254 | LITAF | c.343A>T (p.Thr115Ser) c.220+2944A>T (n.220+2944A>T) c.64A>T (p.Thr22Ser) c.*156A>T (n.*156A>T) c.162A>T n.477A>T c.433A>T (p.Thr145Ser) | |
| 16 | g.11553567T>C | CA394765257 | LITAF | c.343A>G (p.Thr115Ala) c.220+2944A>G (n.220+2944A>G) c.64A>G (p.Thr22Ala) c.*156A>G (n.*156A>G) c.162A>G n.477A>G c.433A>G (p.Thr145Ala) | |
| 16 | g.11553567T>G | CA394765259 | LITAF | c.343A>C (p.Thr115Pro) c.220+2944A>C (n.220+2944A>C) c.64A>C (p.Thr22Pro) c.*156A>C (n.*156A>C) c.162A>C n.477A>C c.433A>C (p.Thr145Pro) | |
| 16 | g.11553568C>A | CA493626477 | LITAF | c.342G>T (p.Leu114=) c.220+2943G>T (n.220+2943G>T) c.63G>T (p.Leu21=) c.*155G>T (n.*155G>T) c.161G>T n.476G>T c.432G>T (p.Leu144=) | |
| 16 | g.11553568C>G | CA493626479 | LITAF | c.342G>C (p.Leu114=) c.220+2943G>C (n.220+2943G>C) c.63G>C (p.Leu21=) c.*155G>C (n.*155G>C) c.161G>C n.476G>C c.432G>C (p.Leu144=) | |
| 16 | g.11553568C>T | CA493626478 | LITAF | c.342G>A (p.Leu114=) c.220+2943G>A (n.220+2943G>A) c.63G>A (p.Leu21=) c.*155G>A (n.*155G>A) c.161G>A n.476G>A c.432G>A (p.Leu144=) | gnomAD v4 |
| 16 | g.11553569A>C | CA394765264 | LITAF | c.341T>G (p.Leu114Arg) c.220+2942T>G (n.220+2942T>G) c.62T>G (p.Leu21Arg) c.*154T>G (n.*154T>G) c.160T>G n.475T>G c.431T>G (p.Leu144Arg) | |
| 16 | g.11553569A>G | CA394765263 | LITAF | c.341T>C (p.Leu114Pro) c.220+2942T>C (n.220+2942T>C) c.62T>C (p.Leu21Pro) c.*154T>C (n.*154T>C) c.160T>C n.475T>C c.431T>C (p.Leu144Pro) | |
| 16 | g.11553569A>T | CA394765262 | LITAF | c.341T>A (p.Leu114Gln) c.220+2942T>A (n.220+2942T>A) c.62T>A (p.Leu21Gln) c.*154T>A (n.*154T>A) c.160T>A n.475T>A c.431T>A (p.Leu144Gln) | |
| 16 | g.11553570G>A | CA493626480 | LITAF | c.340C>T (p.Leu114=) c.220+2941C>T (n.220+2941C>T) c.61C>T (p.Leu21=) c.*153C>T (n.*153C>T) c.159C>T n.474C>T c.430C>T (p.Leu144=) | |
| 16 | g.11553570G>C | CA394765265 | LITAF | c.340C>G (p.Leu114Val) c.220+2941C>G (n.220+2941C>G) c.61C>G (p.Leu21Val) c.*153C>G (n.*153C>G) c.159C>G n.474C>G c.430C>G (p.Leu144Val) | ClinVar dbSNP |
| 16 | g.11553570G= | CA2207696547 | LITAF | c.340C= (p.Leu114=) c.220+2941C= (n.220+2941C=) c.61C= (p.Leu21=) c.*153C= (n.*153C=) c.159C= n.474C= c.430C= (p.Leu144=) | |
| 16 | g.11553570G>T | CA394765266 | LITAF | c.340C>A (p.Leu114Met) c.220+2941C>A (n.220+2941C>A) c.61C>A (p.Leu21Met) c.*153C>A (n.*153C>A) c.159C>A n.474C>A c.430C>A (p.Leu144Met) | |
| 16 | g.11553571A= | CA2207696548 | LITAF | c.339T= (p.Ala113=) c.220+2940T= (n.220+2940T=) c.60T= (p.Ala20=) c.*152T= (n.*152T=) c.158T= n.473T= c.429T= (p.Ala143=) | |
| 16 | g.11553571A>C | CA493626481 | LITAF | c.339T>G (p.Ala113=) c.220+2940T>G (n.220+2940T>G) c.60T>G (p.Ala20=) c.*152T>G (n.*152T>G) c.158T>G n.473T>G c.429T>G (p.Ala143=) | |
| 16 | g.11553571A>G | CA7904083 | LITAF | c.339T>C (p.Ala113=) c.220+2940T>C (n.220+2940T>C) c.60T>C (p.Ala20=) c.*152T>C (n.*152T>C) c.158T>C n.473T>C c.429T>C (p.Ala143=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.11553571A>T | CA493626482 | LITAF | c.339T>A (p.Ala113=) c.220+2940T>A (n.220+2940T>A) c.60T>A (p.Ala20=) c.*152T>A (n.*152T>A) c.158T>A n.473T>A c.429T>A (p.Ala143=) | |
| 16 | g.11553572G>A | CA394765271 | LITAF | c.338C>T (p.Ala113Val) c.220+2939C>T (n.220+2939C>T) c.59C>T (p.Ala20Val) c.*151C>T (n.*151C>T) c.157C>T n.472C>T c.428C>T (p.Ala143Val) | |
| 16 | g.11553572G>C | CA394765272 | LITAF | c.338C>G (p.Ala113Gly) c.220+2939C>G (n.220+2939C>G) c.59C>G (p.Ala20Gly) c.*151C>G (n.*151C>G) c.157C>G n.472C>G c.428C>G (p.Ala143Gly) | |
| 16 | g.11553572G>T | CA394765274 | LITAF | c.338C>A (p.Ala113Asp) c.220+2939C>A (n.220+2939C>A) c.59C>A (p.Ala20Asp) c.*151C>A (n.*151C>A) c.157C>A n.472C>A c.428C>A (p.Ala143Asp) | |
| 16 | g.11553573C>A | CA7904084 | LITAF | c.337G>T (p.Ala113Ser) c.220+2938G>T (n.220+2938G>T) c.58G>T (p.Ala20Ser) c.*150G>T (n.*150G>T) c.156G>T n.471G>T c.427G>T (p.Ala143Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.11553573C= | CA2207696549 | LITAF | c.337G= (p.Ala113=) c.220+2938G= (n.220+2938G=) c.58G= (p.Ala20=) c.*150G= (n.*150G=) c.156G= n.471G= c.427G= (p.Ala143=) | |
| 16 | g.11553573C>G | CA394765286 | LITAF | c.337G>C (p.Ala113Pro) c.220+2938G>C (n.220+2938G>C) c.58G>C (p.Ala20Pro) c.*150G>C (n.*150G>C) c.156G>C n.471G>C c.427G>C (p.Ala143Pro) | |
| 16 | g.11553573C>T | CA394765287 | LITAF | c.337G>A (p.Ala113Thr) c.220+2938G>A (n.220+2938G>A) c.58G>A (p.Ala20Thr) c.*150G>A (n.*150G>A) c.156G>A n.471G>A c.427G>A (p.Ala143Thr) | gnomAD v4 |
| 16 | g.11553574A>C | CA493626487 | LITAF | c.336T>G (p.Gly112=) c.220+2937T>G (n.220+2937T>G) c.57T>G (p.Gly19=) c.*149T>G (n.*149T>G) c.155T>G n.470T>G c.426T>G (p.Gly142=) | |
| 16 | g.11553574A>G | CA493626488 | LITAF | c.336T>C (p.Gly112=) c.220+2937T>C (n.220+2937T>C) c.57T>C (p.Gly19=) c.*149T>C (n.*149T>C) c.155T>C n.470T>C c.426T>C (p.Gly142=) | dbSNP gnomAD v4 |
| 16 | g.11553574A>T | CA493626489 | LITAF | c.336T>A (p.Gly112=) c.220+2937T>A (n.220+2937T>A) c.57T>A (p.Gly19=) c.*149T>A (n.*149T>A) c.155T>A n.470T>A c.426T>A (p.Gly142=) | |
| 16 | g.11553575C>A | CA394765291 | LITAF | c.335G>T (p.Gly112Val) c.220+2936G>T (n.220+2936G>T) c.56G>T (p.Gly19Val) c.*148G>T (n.*148G>T) c.154G>T n.469G>T c.425G>T (p.Gly142Val) | |
| 16 | g.11553575C>G | CA394765293 | LITAF | c.335G>C (p.Gly112Ala) c.220+2936G>C (n.220+2936G>C) c.56G>C (p.Gly19Ala) c.*148G>C (n.*148G>C) c.154G>C n.469G>C c.425G>C (p.Gly142Ala) | |
| 16 | g.11553575C>T | CA394765295 | LITAF | c.335G>A (p.Gly112Asp) c.220+2936G>A (n.220+2936G>A) c.56G>A (p.Gly19Asp) c.*148G>A (n.*148G>A) c.154G>A n.469G>A c.425G>A (p.Gly142Asp) | |
| 16 | g.11553576C>A | CA394765301 | LITAF | c.334G>T (p.Gly112Cys) c.220+2935G>T (n.220+2935G>T) c.55G>T (p.Gly19Cys) c.*147G>T (n.*147G>T) c.153G>T n.468G>T c.424G>T (p.Gly142Cys) | |
| 16 | g.11553576C= | CA2207696550 | LITAF | c.334G= (p.Gly112=) c.220+2935G= (n.220+2935G=) c.55G= (p.Gly19=) c.*147G= (n.*147G=) c.153G= n.468G= c.424G= (p.Gly142=) | |
| 16 | g.11553576C>G | CA394765305 | LITAF | c.334G>C (p.Gly112Arg) c.220+2935G>C (n.220+2935G>C) c.55G>C (p.Gly19Arg) c.*147G>C (n.*147G>C) c.153G>C n.468G>C c.424G>C (p.Gly142Arg) | |
| 16 | g.11553576C>T | CA340507 | LITAF | c.334G>A (p.Gly112Ser) c.220+2935G>A (n.220+2935G>A) c.55G>A (p.Gly19Ser) c.*147G>A (n.*147G>A) c.153G>A n.468G>A c.424G>A (p.Gly142Ser) | ClinVar dbSNP gnomAD v4 |
| 16 | g.11553577G>A | CA348145 | LITAF | c.333C>T (p.Ala111=) c.220+2934C>T (n.220+2934C>T) c.54C>T (p.Ala18=) c.*146C>T (n.*146C>T) c.152C>T n.467C>T c.423C>T (p.Ala141=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.11553577G>C | CA278305568 | LITAF | c.333C>G (p.Ala111=) c.220+2934C>G (n.220+2934C>G) c.54C>G (p.Ala18=) c.*146C>G (n.*146C>G) c.152C>G n.467C>G c.423C>G (p.Ala141=) | dbSNP |
| 16 | g.11553577G= | CA2207696551 | LITAF | c.333C= (p.Ala111=) c.220+2934C= (n.220+2934C=) c.54C= (p.Ala18=) c.*146C= (n.*146C=) c.152C= n.467C= c.423C= (p.Ala141=) | |
| 16 | g.11553577G>T | CA493626492 | LITAF | c.333C>A (p.Ala111=) c.220+2934C>A (n.220+2934C>A) c.54C>A (p.Ala18=) c.*146C>A (n.*146C>A) c.152C>A n.467C>A c.423C>A (p.Ala141=) | |
| 16 | g.11553578G>A | CA394765308 | LITAF | c.332C>T (p.Ala111Val) c.220+2933C>T (n.220+2933C>T) c.53C>T (p.Ala18Val) c.*145C>T (n.*145C>T) c.151C>T n.466C>T c.422C>T (p.Ala141Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |