| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.152369064G>A | CA4057233 | SYNE1 | c.1066C>T (p.Gln356Ter) c.9715C>T (p.Gln3239Ter) c.9736C>T (p.Gln3246Ter) c.9781C>T (p.Gln3261Ter) c.1063C>T (p.Gln355Ter) c.244+407C>T n.1264C>T c.9685C>T (p.Gln3229Ter) c.9664C>T (p.Gln3222Ter) c.9672+407C>T (n.9672+407C>T) c.9577C>T (p.Gln3193Ter) c.9571C>T (p.Gln3191Ter) c.8011C>T (p.Gln2671Ter) c.7504C>T (p.Gln2502Ter) c.2971C>T (p.Gln991Ter) c.9709C>T (p.Gln3237Ter) c.9658C>T (p.Gln3220Ter) n.10219C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152369064G>C | CA4057232 | SYNE1 | c.1066C>G (p.Gln356Glu) c.9715C>G (p.Gln3239Glu) c.9736C>G (p.Gln3246Glu) c.9781C>G (p.Gln3261Glu) c.1063C>G (p.Gln355Glu) c.244+407C>G n.1264C>G c.9685C>G (p.Gln3229Glu) c.9664C>G (p.Gln3222Glu) c.9672+407C>G (n.9672+407C>G) c.9577C>G (p.Gln3193Glu) c.9571C>G (p.Gln3191Glu) c.8011C>G (p.Gln2671Glu) c.7504C>G (p.Gln2502Glu) c.2971C>G (p.Gln991Glu) c.9709C>G (p.Gln3237Glu) c.9658C>G (p.Gln3220Glu) n.10219C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152369064G= | CA1673300248 | SYNE1 | c.1066C= (p.Gln356=) c.9715C= (p.Gln3239=) c.9736C= (p.Gln3246=) c.9781C= (p.Gln3261=) c.1063C= (p.Gln355=) c.244+407C= n.1264C= c.9685C= (p.Gln3229=) c.9664C= (p.Gln3222=) c.9672+407C= (n.9672+407C=) c.9577C= (p.Gln3193=) c.9571C= (p.Gln3191=) c.8011C= (p.Gln2671=) c.7504C= (p.Gln2502=) c.2971C= (p.Gln991=) c.9709C= (p.Gln3237=) c.9658C= (p.Gln3220=) n.10219C= | |
| 6 | g.152369064G>T | CA366137572 | SYNE1 | c.1066C>A (p.Gln356Lys) c.9715C>A (p.Gln3239Lys) c.9736C>A (p.Gln3246Lys) c.9781C>A (p.Gln3261Lys) c.1063C>A (p.Gln355Lys) c.244+407C>A n.1264C>A c.9685C>A (p.Gln3229Lys) c.9664C>A (p.Gln3222Lys) c.9672+407C>A (n.9672+407C>A) c.9577C>A (p.Gln3193Lys) c.9571C>A (p.Gln3191Lys) c.8011C>A (p.Gln2671Lys) c.7504C>A (p.Gln2502Lys) c.2971C>A (p.Gln991Lys) c.9709C>A (p.Gln3237Lys) c.9658C>A (p.Gln3220Lys) n.10219C>A | |
| 6 | g.152369065C>A | CA366137579 | SYNE1 | c.1065G>T (p.Gln355His) c.9714G>T (p.Gln3238His) c.9735G>T (p.Gln3245His) c.9780G>T (p.Gln3260His) c.1062G>T (p.Gln354His) c.244+406G>T n.1263G>T c.9684G>T (p.Gln3228His) c.9663G>T (p.Gln3221His) c.9672+406G>T (n.9672+406G>T) c.9576G>T (p.Gln3192His) c.9570G>T (p.Gln3190His) c.8010G>T (p.Gln2670His) c.7503G>T (p.Gln2501His) c.2970G>T (p.Gln990His) c.9708G>T (p.Gln3236His) c.9657G>T (p.Gln3219His) n.10218G>T | |
| 6 | g.152369065C>G | CA366137585 | SYNE1 | c.1065G>C (p.Gln355His) c.9714G>C (p.Gln3238His) c.9735G>C (p.Gln3245His) c.9780G>C (p.Gln3260His) c.1062G>C (p.Gln354His) c.244+406G>C n.1263G>C c.9684G>C (p.Gln3228His) c.9663G>C (p.Gln3221His) c.9672+406G>C (n.9672+406G>C) c.9576G>C (p.Gln3192His) c.9570G>C (p.Gln3190His) c.8010G>C (p.Gln2670His) c.7503G>C (p.Gln2501His) c.2970G>C (p.Gln990His) c.9708G>C (p.Gln3236His) c.9657G>C (p.Gln3219His) n.10218G>C | |
| 6 | g.152369065C>T | CA452761225 | SYNE1 | c.1065G>A (p.Gln355=) c.9714G>A (p.Gln3238=) c.9735G>A (p.Gln3245=) c.9780G>A (p.Gln3260=) c.1062G>A (p.Gln354=) c.244+406G>A n.1263G>A c.9684G>A (p.Gln3228=) c.9663G>A (p.Gln3221=) c.9672+406G>A (n.9672+406G>A) c.9576G>A (p.Gln3192=) c.9570G>A (p.Gln3190=) c.8010G>A (p.Gln2670=) c.7503G>A (p.Gln2501=) c.2970G>A (p.Gln990=) c.9708G>A (p.Gln3236=) c.9657G>A (p.Gln3219=) n.10218G>A | |
| 6 | g.152369066T>A | CA366137587 | SYNE1 | c.1064A>T (p.Gln355Leu) c.9713A>T (p.Gln3238Leu) c.9734A>T (p.Gln3245Leu) c.9779A>T (p.Gln3260Leu) c.1061A>T (p.Gln354Leu) c.244+405A>T n.1262A>T c.9683A>T (p.Gln3228Leu) c.9662A>T (p.Gln3221Leu) c.9672+405A>T (n.9672+405A>T) c.9575A>T (p.Gln3192Leu) c.9569A>T (p.Gln3190Leu) c.8009A>T (p.Gln2670Leu) c.7502A>T (p.Gln2501Leu) c.2969A>T (p.Gln990Leu) c.9707A>T (p.Gln3236Leu) c.9656A>T (p.Gln3219Leu) n.10217A>T | |
| 6 | g.152369066T>C | CA366137589 | SYNE1 | c.1064A>G (p.Gln355Arg) c.9713A>G (p.Gln3238Arg) c.9734A>G (p.Gln3245Arg) c.9779A>G (p.Gln3260Arg) c.1061A>G (p.Gln354Arg) c.244+405A>G n.1262A>G c.9683A>G (p.Gln3228Arg) c.9662A>G (p.Gln3221Arg) c.9672+405A>G (n.9672+405A>G) c.9575A>G (p.Gln3192Arg) c.9569A>G (p.Gln3190Arg) c.8009A>G (p.Gln2670Arg) c.7502A>G (p.Gln2501Arg) c.2969A>G (p.Gln990Arg) c.9707A>G (p.Gln3236Arg) c.9656A>G (p.Gln3219Arg) n.10217A>G | |
| 6 | g.152369066T>G | CA366137596 | SYNE1 | c.1064A>C (p.Gln355Pro) c.9713A>C (p.Gln3238Pro) c.9734A>C (p.Gln3245Pro) c.9779A>C (p.Gln3260Pro) c.1061A>C (p.Gln354Pro) c.244+405A>C n.1262A>C c.9683A>C (p.Gln3228Pro) c.9662A>C (p.Gln3221Pro) c.9672+405A>C (n.9672+405A>C) c.9575A>C (p.Gln3192Pro) c.9569A>C (p.Gln3190Pro) c.8009A>C (p.Gln2670Pro) c.7502A>C (p.Gln2501Pro) c.2969A>C (p.Gln990Pro) c.9707A>C (p.Gln3236Pro) c.9656A>C (p.Gln3219Pro) n.10217A>C | |
| 6 | g.152369066_152369068delinsTGA | CA1673300249 | SYNE1 | c.1062_1064delinsTCA (p.Ala354=) c.9711_9713delinsTCA (p.Ala3237=) c.9732_9734delinsTCA (p.Ala3244=) c.9777_9779delinsTCA (p.Ala3259=) c.1059_1061delinsTCA (p.Ala353=) c.244+403_244+405delinsTCA n.1260_1262delinsTCA c.9681_9683delinsTCA (p.Ala3227=) c.9660_9662delinsTCA (p.Ala3220=) c.9672+403_9672+405delinsTCA (n.9672+403_9672+405delinsTCA) c.9573_9575delinsTCA (p.Ala3191=) c.9567_9569delinsTCA (p.Ala3189=) c.8007_8009delinsTCA (p.Ala2669=) c.7500_7502delinsTCA (p.Ala2500=) c.2967_2969delinsTCA (p.Ala989=) c.9705_9707delinsTCA (p.Ala3235=) c.9654_9656delinsTCA (p.Ala3218=) n.10215_10217delinsTCA | |
| 6 | g.152369067G>A | CA366137599 | SYNE1 | c.1063C>T (p.Gln355Ter) c.9712C>T (p.Gln3238Ter) c.9733C>T (p.Gln3245Ter) c.9778C>T (p.Gln3260Ter) c.1060C>T (p.Gln354Ter) c.244+404C>T n.1261C>T c.9682C>T (p.Gln3228Ter) c.9661C>T (p.Gln3221Ter) c.9672+404C>T (n.9672+404C>T) c.9574C>T (p.Gln3192Ter) c.9568C>T (p.Gln3190Ter) c.8008C>T (p.Gln2670Ter) c.7501C>T (p.Gln2501Ter) c.2968C>T (p.Gln990Ter) c.9706C>T (p.Gln3236Ter) c.9655C>T (p.Gln3219Ter) n.10216C>T | |
| 6 | g.152369067G>C | CA366137602 | SYNE1 | c.1063C>G (p.Gln355Glu) c.9712C>G (p.Gln3238Glu) c.9733C>G (p.Gln3245Glu) c.9778C>G (p.Gln3260Glu) c.1060C>G (p.Gln354Glu) c.244+404C>G n.1261C>G c.9682C>G (p.Gln3228Glu) c.9661C>G (p.Gln3221Glu) c.9672+404C>G (n.9672+404C>G) c.9574C>G (p.Gln3192Glu) c.9568C>G (p.Gln3190Glu) c.8008C>G (p.Gln2670Glu) c.7501C>G (p.Gln2501Glu) c.2968C>G (p.Gln990Glu) c.9706C>G (p.Gln3236Glu) c.9655C>G (p.Gln3219Glu) n.10216C>G | |
| 6 | g.152369067G>T | CA366137604 | SYNE1 | c.1063C>A (p.Gln355Lys) c.9712C>A (p.Gln3238Lys) c.9733C>A (p.Gln3245Lys) c.9778C>A (p.Gln3260Lys) c.1060C>A (p.Gln354Lys) c.244+404C>A n.1261C>A c.9682C>A (p.Gln3228Lys) c.9661C>A (p.Gln3221Lys) c.9672+404C>A (n.9672+404C>A) c.9574C>A (p.Gln3192Lys) c.9568C>A (p.Gln3190Lys) c.8008C>A (p.Gln2670Lys) c.7501C>A (p.Gln2501Lys) c.2968C>A (p.Gln990Lys) c.9706C>A (p.Gln3236Lys) c.9655C>A (p.Gln3219Lys) n.10216C>A | |
| 6 | g.152369068_152369069del | CA4057234 | SYNE1 | c.1062_1063del (p.Gln355AlafsTer13) c.9711_9712del (p.Gln3238AlafsTer13) c.9732_9733del (p.Gln3245AlafsTer13) c.9777_9778del (p.Gln3260AlafsTer13) c.1059_1060del (p.Gln354AlafsTer13) c.244+403_244+404del n.1260_1261del c.9681_9682del (p.Gln3228AlafsTer13) c.9660_9661del (p.Gln3221AlafsTer13) c.9672+403_9672+404del (n.9672+403_9672+404del) c.9573_9574del (p.Gln3192AlafsTer13) c.9567_9568del (p.Gln3190AlafsTer13) c.8007_8008del (p.Gln2670AlafsTer13) c.7500_7501del (p.Gln2501AlafsTer13) c.2967_2968del (p.Gln990AlafsTer13) c.9705_9706del (p.Gln3236AlafsTer13) c.9654_9655del (p.Gln3219AlafsTer13) n.10215_10216del | dbSNP ExAC |
| 6 | g.152369068A>C | CA452761237 | SYNE1 | c.1062T>G (p.Ala354=) c.9711T>G (p.Ala3237=) c.9732T>G (p.Ala3244=) c.9777T>G (p.Ala3259=) c.1059T>G (p.Ala353=) c.244+403T>G n.1260T>G c.9681T>G (p.Ala3227=) c.9660T>G (p.Ala3220=) c.9672+403T>G (n.9672+403T>G) c.9573T>G (p.Ala3191=) c.9567T>G (p.Ala3189=) c.8007T>G (p.Ala2669=) c.7500T>G (p.Ala2500=) c.2967T>G (p.Ala989=) c.9705T>G (p.Ala3235=) c.9654T>G (p.Ala3218=) n.10215T>G | |
| 6 | g.152369068A>G | CA452761239 | SYNE1 | c.1062T>C (p.Ala354=) c.9711T>C (p.Ala3237=) c.9732T>C (p.Ala3244=) c.9777T>C (p.Ala3259=) c.1059T>C (p.Ala353=) c.244+403T>C n.1260T>C c.9681T>C (p.Ala3227=) c.9660T>C (p.Ala3220=) c.9672+403T>C (n.9672+403T>C) c.9573T>C (p.Ala3191=) c.9567T>C (p.Ala3189=) c.8007T>C (p.Ala2669=) c.7500T>C (p.Ala2500=) c.2967T>C (p.Ala989=) c.9705T>C (p.Ala3235=) c.9654T>C (p.Ala3218=) n.10215T>C | |
| 6 | g.152369068A>T | CA452761240 | SYNE1 | c.1062T>A (p.Ala354=) c.9711T>A (p.Ala3237=) c.9732T>A (p.Ala3244=) c.9777T>A (p.Ala3259=) c.1059T>A (p.Ala353=) c.244+403T>A n.1260T>A c.9681T>A (p.Ala3227=) c.9660T>A (p.Ala3220=) c.9672+403T>A (n.9672+403T>A) c.9573T>A (p.Ala3191=) c.9567T>A (p.Ala3189=) c.8007T>A (p.Ala2669=) c.7500T>A (p.Ala2500=) c.2967T>A (p.Ala989=) c.9705T>A (p.Ala3235=) c.9654T>A (p.Ala3218=) n.10215T>A | |
| 6 | g.152369069G>A | CA366137615 | SYNE1 | c.1061C>T (p.Ala354Val) c.9710C>T (p.Ala3237Val) c.9731C>T (p.Ala3244Val) c.9776C>T (p.Ala3259Val) c.1058C>T (p.Ala353Val) c.244+402C>T n.1259C>T c.9680C>T (p.Ala3227Val) c.9659C>T (p.Ala3220Val) c.9672+402C>T (n.9672+402C>T) c.9572C>T (p.Ala3191Val) c.9566C>T (p.Ala3189Val) c.8006C>T (p.Ala2669Val) c.7499C>T (p.Ala2500Val) c.2966C>T (p.Ala989Val) c.9704C>T (p.Ala3235Val) c.9653C>T (p.Ala3218Val) n.10214C>T | |
| 6 | g.152369069G>C | CA366137612 | SYNE1 | c.1061C>G (p.Ala354Gly) c.9710C>G (p.Ala3237Gly) c.9731C>G (p.Ala3244Gly) c.9776C>G (p.Ala3259Gly) c.1058C>G (p.Ala353Gly) c.244+402C>G n.1259C>G c.9680C>G (p.Ala3227Gly) c.9659C>G (p.Ala3220Gly) c.9672+402C>G (n.9672+402C>G) c.9572C>G (p.Ala3191Gly) c.9566C>G (p.Ala3189Gly) c.8006C>G (p.Ala2669Gly) c.7499C>G (p.Ala2500Gly) c.2966C>G (p.Ala989Gly) c.9704C>G (p.Ala3235Gly) c.9653C>G (p.Ala3218Gly) n.10214C>G | |
| 6 | g.152369069G>T | CA366137610 | SYNE1 | c.1061C>A (p.Ala354Asp) c.9710C>A (p.Ala3237Asp) c.9731C>A (p.Ala3244Asp) c.9776C>A (p.Ala3259Asp) c.1058C>A (p.Ala353Asp) c.244+402C>A n.1259C>A c.9680C>A (p.Ala3227Asp) c.9659C>A (p.Ala3220Asp) c.9672+402C>A (n.9672+402C>A) c.9572C>A (p.Ala3191Asp) c.9566C>A (p.Ala3189Asp) c.8006C>A (p.Ala2669Asp) c.7499C>A (p.Ala2500Asp) c.2966C>A (p.Ala989Asp) c.9704C>A (p.Ala3235Asp) c.9653C>A (p.Ala3218Asp) n.10214C>A | |
| 6 | g.152369070C>A | CA366137617 | SYNE1 | c.1060G>T (p.Ala354Ser) c.9709G>T (p.Ala3237Ser) c.9730G>T (p.Ala3244Ser) c.9775G>T (p.Ala3259Ser) c.1057G>T (p.Ala353Ser) c.244+401G>T n.1258G>T c.9679G>T (p.Ala3227Ser) c.9658G>T (p.Ala3220Ser) c.9672+401G>T (n.9672+401G>T) c.9571G>T (p.Ala3191Ser) c.9565G>T (p.Ala3189Ser) c.8005G>T (p.Ala2669Ser) c.7498G>T (p.Ala2500Ser) c.2965G>T (p.Ala989Ser) c.9703G>T (p.Ala3235Ser) c.9652G>T (p.Ala3218Ser) n.10213G>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.152369070C= | CA1673300250 | SYNE1 | c.1060G= (p.Ala354=) c.9709G= (p.Ala3237=) c.9730G= (p.Ala3244=) c.9775G= (p.Ala3259=) c.1057G= (p.Ala353=) c.244+401G= n.1258G= c.9679G= (p.Ala3227=) c.9658G= (p.Ala3220=) c.9672+401G= (n.9672+401G=) c.9571G= (p.Ala3191=) c.9565G= (p.Ala3189=) c.8005G= (p.Ala2669=) c.7498G= (p.Ala2500=) c.2965G= (p.Ala989=) c.9703G= (p.Ala3235=) c.9652G= (p.Ala3218=) n.10213G= | |
| 6 | g.152369070C>G | CA366137620 | SYNE1 | c.1060G>C (p.Ala354Pro) c.9709G>C (p.Ala3237Pro) c.9730G>C (p.Ala3244Pro) c.9775G>C (p.Ala3259Pro) c.1057G>C (p.Ala353Pro) c.244+401G>C n.1258G>C c.9679G>C (p.Ala3227Pro) c.9658G>C (p.Ala3220Pro) c.9672+401G>C (n.9672+401G>C) c.9571G>C (p.Ala3191Pro) c.9565G>C (p.Ala3189Pro) c.8005G>C (p.Ala2669Pro) c.7498G>C (p.Ala2500Pro) c.2965G>C (p.Ala989Pro) c.9703G>C (p.Ala3235Pro) c.9652G>C (p.Ala3218Pro) n.10213G>C | |
| 6 | g.152369070C>T | CA366137622 | SYNE1 | c.1060G>A (p.Ala354Thr) c.9709G>A (p.Ala3237Thr) c.9730G>A (p.Ala3244Thr) c.9775G>A (p.Ala3259Thr) c.1057G>A (p.Ala353Thr) c.244+401G>A n.1258G>A c.9679G>A (p.Ala3227Thr) c.9658G>A (p.Ala3220Thr) c.9672+401G>A (n.9672+401G>A) c.9571G>A (p.Ala3191Thr) c.9565G>A (p.Ala3189Thr) c.8005G>A (p.Ala2669Thr) c.7498G>A (p.Ala2500Thr) c.2965G>A (p.Ala989Thr) c.9703G>A (p.Ala3235Thr) c.9652G>A (p.Ala3218Thr) n.10213G>A | |
| 6 | g.152369071T>A | CA366137625 | SYNE1 | c.1059A>T (p.Lys353Asn) c.9708A>T (p.Lys3236Asn) c.9729A>T (p.Lys3243Asn) c.9774A>T (p.Lys3258Asn) c.1056A>T (p.Lys352Asn) c.244+400A>T n.1257A>T c.9678A>T (p.Lys3226Asn) c.9657A>T (p.Lys3219Asn) c.9672+400A>T (n.9672+400A>T) c.9570A>T (p.Lys3190Asn) c.9564A>T (p.Lys3188Asn) c.8004A>T (p.Lys2668Asn) c.7497A>T (p.Lys2499Asn) c.2964A>T (p.Lys988Asn) c.9702A>T (p.Lys3234Asn) c.9651A>T (p.Lys3217Asn) n.10212A>T | |
| 6 | g.152369071T>C | CA452761250 | SYNE1 | c.1059A>G (p.Lys353=) c.9708A>G (p.Lys3236=) c.9729A>G (p.Lys3243=) c.9774A>G (p.Lys3258=) c.1056A>G (p.Lys352=) c.244+400A>G n.1257A>G c.9678A>G (p.Lys3226=) c.9657A>G (p.Lys3219=) c.9672+400A>G (n.9672+400A>G) c.9570A>G (p.Lys3190=) c.9564A>G (p.Lys3188=) c.8004A>G (p.Lys2668=) c.7497A>G (p.Lys2499=) c.2964A>G (p.Lys988=) c.9702A>G (p.Lys3234=) c.9651A>G (p.Lys3217=) n.10212A>G | |
| 6 | g.152369071T>G | CA366137628 | SYNE1 | c.1059A>C (p.Lys353Asn) c.9708A>C (p.Lys3236Asn) c.9729A>C (p.Lys3243Asn) c.9774A>C (p.Lys3258Asn) c.1056A>C (p.Lys352Asn) c.244+400A>C n.1257A>C c.9678A>C (p.Lys3226Asn) c.9657A>C (p.Lys3219Asn) c.9672+400A>C (n.9672+400A>C) c.9570A>C (p.Lys3190Asn) c.9564A>C (p.Lys3188Asn) c.8004A>C (p.Lys2668Asn) c.7497A>C (p.Lys2499Asn) c.2964A>C (p.Lys988Asn) c.9702A>C (p.Lys3234Asn) c.9651A>C (p.Lys3217Asn) n.10212A>C | |
| 6 | g.152369072T>A | CA366137630 | SYNE1 | c.1058A>T (p.Lys353Ile) c.9707A>T (p.Lys3236Ile) c.9728A>T (p.Lys3243Ile) c.9773A>T (p.Lys3258Ile) c.1055A>T (p.Lys352Ile) c.244+399A>T n.1256A>T c.9677A>T (p.Lys3226Ile) c.9656A>T (p.Lys3219Ile) c.9672+399A>T (n.9672+399A>T) c.9569A>T (p.Lys3190Ile) c.9563A>T (p.Lys3188Ile) c.8003A>T (p.Lys2668Ile) c.7496A>T (p.Lys2499Ile) c.2963A>T (p.Lys988Ile) c.9701A>T (p.Lys3234Ile) c.9650A>T (p.Lys3217Ile) n.10211A>T | |
| 6 | g.152369072T>C | CA366137633 | SYNE1 | c.1058A>G (p.Lys353Arg) c.9707A>G (p.Lys3236Arg) c.9728A>G (p.Lys3243Arg) c.9773A>G (p.Lys3258Arg) c.1055A>G (p.Lys352Arg) c.244+399A>G n.1256A>G c.9677A>G (p.Lys3226Arg) c.9656A>G (p.Lys3219Arg) c.9672+399A>G (n.9672+399A>G) c.9569A>G (p.Lys3190Arg) c.9563A>G (p.Lys3188Arg) c.8003A>G (p.Lys2668Arg) c.7496A>G (p.Lys2499Arg) c.2963A>G (p.Lys988Arg) c.9701A>G (p.Lys3234Arg) c.9650A>G (p.Lys3217Arg) n.10211A>G | |
| 6 | g.152369072T>G | CA366137636 | SYNE1 | c.1058A>C (p.Lys353Thr) c.9707A>C (p.Lys3236Thr) c.9728A>C (p.Lys3243Thr) c.9773A>C (p.Lys3258Thr) c.1055A>C (p.Lys352Thr) c.244+399A>C n.1256A>C c.9677A>C (p.Lys3226Thr) c.9656A>C (p.Lys3219Thr) c.9672+399A>C (n.9672+399A>C) c.9569A>C (p.Lys3190Thr) c.9563A>C (p.Lys3188Thr) c.8003A>C (p.Lys2668Thr) c.7496A>C (p.Lys2499Thr) c.2963A>C (p.Lys988Thr) c.9701A>C (p.Lys3234Thr) c.9650A>C (p.Lys3217Thr) n.10211A>C | |
| 6 | g.152369073T>A | CA366137638 | SYNE1 | c.1057A>T (p.Lys353Ter) c.9706A>T (p.Lys3236Ter) c.9727A>T (p.Lys3243Ter) c.9772A>T (p.Lys3258Ter) c.1054A>T (p.Lys352Ter) c.244+398A>T n.1255A>T c.9676A>T (p.Lys3226Ter) c.9655A>T (p.Lys3219Ter) c.9672+398A>T (n.9672+398A>T) c.9568A>T (p.Lys3190Ter) c.9562A>T (p.Lys3188Ter) c.8002A>T (p.Lys2668Ter) c.7495A>T (p.Lys2499Ter) c.2962A>T (p.Lys988Ter) c.9700A>T (p.Lys3234Ter) c.9649A>T (p.Lys3217Ter) n.10210A>T | |
| 6 | g.152369073T>C | CA366137639 | SYNE1 | c.1057A>G (p.Lys353Glu) c.9706A>G (p.Lys3236Glu) c.9727A>G (p.Lys3243Glu) c.9772A>G (p.Lys3258Glu) c.1054A>G (p.Lys352Glu) c.244+398A>G n.1255A>G c.9676A>G (p.Lys3226Glu) c.9655A>G (p.Lys3219Glu) c.9672+398A>G (n.9672+398A>G) c.9568A>G (p.Lys3190Glu) c.9562A>G (p.Lys3188Glu) c.8002A>G (p.Lys2668Glu) c.7495A>G (p.Lys2499Glu) c.2962A>G (p.Lys988Glu) c.9700A>G (p.Lys3234Glu) c.9649A>G (p.Lys3217Glu) n.10210A>G | |
| 6 | g.152369073T>G | CA366137640 | SYNE1 | c.1057A>C (p.Lys353Gln) c.9706A>C (p.Lys3236Gln) c.9727A>C (p.Lys3243Gln) c.9772A>C (p.Lys3258Gln) c.1054A>C (p.Lys352Gln) c.244+398A>C n.1255A>C c.9676A>C (p.Lys3226Gln) c.9655A>C (p.Lys3219Gln) c.9672+398A>C (n.9672+398A>C) c.9568A>C (p.Lys3190Gln) c.9562A>C (p.Lys3188Gln) c.8002A>C (p.Lys2668Gln) c.7495A>C (p.Lys2499Gln) c.2962A>C (p.Lys988Gln) c.9700A>C (p.Lys3234Gln) c.9649A>C (p.Lys3217Gln) n.10210A>C | |
| 6 | g.152369074C>A | CA366137641 | SYNE1 | c.1056G>T (p.Glu352Asp) c.9705G>T (p.Glu3235Asp) c.9726G>T (p.Glu3242Asp) c.9771G>T (p.Glu3257Asp) c.1053G>T (p.Glu351Asp) c.244+397G>T n.1254G>T c.9675G>T (p.Glu3225Asp) c.9654G>T (p.Glu3218Asp) c.9672+397G>T (n.9672+397G>T) c.9567G>T (p.Glu3189Asp) c.9561G>T (p.Glu3187Asp) c.8001G>T (p.Glu2667Asp) c.7494G>T (p.Glu2498Asp) c.2961G>T (p.Glu987Asp) c.9699G>T (p.Glu3233Asp) c.9648G>T (p.Glu3216Asp) n.10209G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.152369074C= | CA1673300251 | SYNE1 | c.1056G= (p.Glu352=) c.9705G= (p.Glu3235=) c.9726G= (p.Glu3242=) c.9771G= (p.Glu3257=) c.1053G= (p.Glu351=) c.244+397G= n.1254G= c.9675G= (p.Glu3225=) c.9654G= (p.Glu3218=) c.9672+397G= (n.9672+397G=) c.9567G= (p.Glu3189=) c.9561G= (p.Glu3187=) c.8001G= (p.Glu2667=) c.7494G= (p.Glu2498=) c.2961G= (p.Glu987=) c.9699G= (p.Glu3233=) c.9648G= (p.Glu3216=) n.10209G= | |
| 6 | g.152369074C>G | CA366137642 | SYNE1 | c.1056G>C (p.Glu352Asp) c.9705G>C (p.Glu3235Asp) c.9726G>C (p.Glu3242Asp) c.9771G>C (p.Glu3257Asp) c.1053G>C (p.Glu351Asp) c.244+397G>C n.1254G>C c.9675G>C (p.Glu3225Asp) c.9654G>C (p.Glu3218Asp) c.9672+397G>C (n.9672+397G>C) c.9567G>C (p.Glu3189Asp) c.9561G>C (p.Glu3187Asp) c.8001G>C (p.Glu2667Asp) c.7494G>C (p.Glu2498Asp) c.2961G>C (p.Glu987Asp) c.9699G>C (p.Glu3233Asp) c.9648G>C (p.Glu3216Asp) n.10209G>C | |
| 6 | g.152369074C>T | CA4057235 | SYNE1 | c.1056G>A (p.Glu352=) c.9705G>A (p.Glu3235=) c.9726G>A (p.Glu3242=) c.9771G>A (p.Glu3257=) c.1053G>A (p.Glu351=) c.244+397G>A n.1254G>A c.9675G>A (p.Glu3225=) c.9654G>A (p.Glu3218=) c.9672+397G>A (n.9672+397G>A) c.9567G>A (p.Glu3189=) c.9561G>A (p.Glu3187=) c.8001G>A (p.Glu2667=) c.7494G>A (p.Glu2498=) c.2961G>A (p.Glu987=) c.9699G>A (p.Glu3233=) c.9648G>A (p.Glu3216=) n.10209G>A | dbSNP ExAC gnomAD v4 |
| 6 | g.152369074_152369075insATGGACCA | CA4057236 | SYNE1 | c.1055_1056insTGGTCCAT (p.Glu352AspfsTer4) c.9704_9705insTGGTCCAT (p.Glu3235AspfsTer4) c.9725_9726insTGGTCCAT (p.Glu3242AspfsTer4) c.9770_9771insTGGTCCAT (p.Glu3257AspfsTer4) c.1052_1053insTGGTCCAT (p.Glu351AspfsTer4) c.244+396_244+397insTGGTCCAT n.1253_1254insTGGTCCAT c.9674_9675insTGGTCCAT (p.Glu3225AspfsTer4) c.9653_9654insTGGTCCAT (p.Glu3218AspfsTer4) c.9672+396_9672+397insTGGTCCAT (n.9672+396_9672+397insTGGTCCAT) c.9566_9567insTGGTCCAT (p.Glu3189AspfsTer4) c.9560_9561insTGGTCCAT (p.Glu3187AspfsTer4) c.8000_8001insTGGTCCAT (p.Glu2667AspfsTer4) c.7493_7494insTGGTCCAT (p.Glu2498AspfsTer4) c.2960_2961insTGGTCCAT (p.Glu987AspfsTer4) c.9698_9699insTGGTCCAT (p.Glu3233AspfsTer4) c.9647_9648insTGGTCCAT (p.Glu3216AspfsTer4) n.10208_10209insTGGTCCAT | dbSNP ExAC |
| 6 | g.152369075T>A | CA366137648 | SYNE1 | c.1055A>T (p.Glu352Val) c.9704A>T (p.Glu3235Val) c.9725A>T (p.Glu3242Val) c.9770A>T (p.Glu3257Val) c.1052A>T (p.Glu351Val) c.244+396A>T n.1253A>T c.9674A>T (p.Glu3225Val) c.9653A>T (p.Glu3218Val) c.9672+396A>T (n.9672+396A>T) c.9566A>T (p.Glu3189Val) c.9560A>T (p.Glu3187Val) c.8000A>T (p.Glu2667Val) c.7493A>T (p.Glu2498Val) c.2960A>T (p.Glu987Val) c.9698A>T (p.Glu3233Val) c.9647A>T (p.Glu3216Val) n.10208A>T | |
| 6 | g.152369075T>C | CA366137646 | SYNE1 | c.1055A>G (p.Glu352Gly) c.9704A>G (p.Glu3235Gly) c.9725A>G (p.Glu3242Gly) c.9770A>G (p.Glu3257Gly) c.1052A>G (p.Glu351Gly) c.244+396A>G n.1253A>G c.9674A>G (p.Glu3225Gly) c.9653A>G (p.Glu3218Gly) c.9672+396A>G (n.9672+396A>G) c.9566A>G (p.Glu3189Gly) c.9560A>G (p.Glu3187Gly) c.8000A>G (p.Glu2667Gly) c.7493A>G (p.Glu2498Gly) c.2960A>G (p.Glu987Gly) c.9698A>G (p.Glu3233Gly) c.9647A>G (p.Glu3216Gly) n.10208A>G | dbSNP |
| 6 | g.152369075T>G | CA366137644 | SYNE1 | c.1055A>C (p.Glu352Ala) c.9704A>C (p.Glu3235Ala) c.9725A>C (p.Glu3242Ala) c.9770A>C (p.Glu3257Ala) c.1052A>C (p.Glu351Ala) c.244+396A>C n.1253A>C c.9674A>C (p.Glu3225Ala) c.9653A>C (p.Glu3218Ala) c.9672+396A>C (n.9672+396A>C) c.9566A>C (p.Glu3189Ala) c.9560A>C (p.Glu3187Ala) c.8000A>C (p.Glu2667Ala) c.7493A>C (p.Glu2498Ala) c.2960A>C (p.Glu987Ala) c.9698A>C (p.Glu3233Ala) c.9647A>C (p.Glu3216Ala) n.10208A>C | |
| 6 | g.152369075T= | CA1673300252 | SYNE1 | c.1055A= (p.Glu352=) c.9704A= (p.Glu3235=) c.9725A= (p.Glu3242=) c.9770A= (p.Glu3257=) c.1052A= (p.Glu351=) c.244+396A= n.1253A= c.9674A= (p.Glu3225=) c.9653A= (p.Glu3218=) c.9672+396A= (n.9672+396A=) c.9566A= (p.Glu3189=) c.9560A= (p.Glu3187=) c.8000A= (p.Glu2667=) c.7493A= (p.Glu2498=) c.2960A= (p.Glu987=) c.9698A= (p.Glu3233=) c.9647A= (p.Glu3216=) n.10208A= | |
| 6 | g.152369076C>A | CA366137650 | SYNE1 | c.1054G>T (p.Glu352Ter) c.9703G>T (p.Glu3235Ter) c.9724G>T (p.Glu3242Ter) c.9769G>T (p.Glu3257Ter) c.1051G>T (p.Glu351Ter) c.244+395G>T n.1252G>T c.9673G>T (p.Glu3225Ter) c.9652G>T (p.Glu3218Ter) c.9672+395G>T (n.9672+395G>T) c.9565G>T (p.Glu3189Ter) c.9559G>T (p.Glu3187Ter) c.7999G>T (p.Glu2667Ter) c.7492G>T (p.Glu2498Ter) c.2959G>T (p.Glu987Ter) c.9697G>T (p.Glu3233Ter) c.9646G>T (p.Glu3216Ter) n.10207G>T | |
| 6 | g.152369076C= | CA1673300253 | SYNE1 | c.1054G= (p.Glu352=) c.9703G= (p.Glu3235=) c.9724G= (p.Glu3242=) c.9769G= (p.Glu3257=) c.1051G= (p.Glu351=) c.244+395G= n.1252G= c.9673G= (p.Glu3225=) c.9652G= (p.Glu3218=) c.9672+395G= (n.9672+395G=) c.9565G= (p.Glu3189=) c.9559G= (p.Glu3187=) c.7999G= (p.Glu2667=) c.7492G= (p.Glu2498=) c.2959G= (p.Glu987=) c.9697G= (p.Glu3233=) c.9646G= (p.Glu3216=) n.10207G= | |
| 6 | g.152369076C>G | CA150218315 | SYNE1 | c.1054G>C (p.Glu352Gln) c.9703G>C (p.Glu3235Gln) c.9724G>C (p.Glu3242Gln) c.9769G>C (p.Glu3257Gln) c.1051G>C (p.Glu351Gln) c.244+395G>C n.1252G>C c.9673G>C (p.Glu3225Gln) c.9652G>C (p.Glu3218Gln) c.9672+395G>C (n.9672+395G>C) c.9565G>C (p.Glu3189Gln) c.9559G>C (p.Glu3187Gln) c.7999G>C (p.Glu2667Gln) c.7492G>C (p.Glu2498Gln) c.2959G>C (p.Glu987Gln) c.9697G>C (p.Glu3233Gln) c.9646G>C (p.Glu3216Gln) n.10207G>C | ClinVar dbSNP gnomAD v4 |
| 6 | g.152369076C>T | CA366137652 | SYNE1 | c.1054G>A (p.Glu352Lys) c.9703G>A (p.Glu3235Lys) c.9724G>A (p.Glu3242Lys) c.9769G>A (p.Glu3257Lys) c.1051G>A (p.Glu351Lys) c.244+395G>A n.1252G>A c.9673G>A (p.Glu3225Lys) c.9652G>A (p.Glu3218Lys) c.9672+395G>A (n.9672+395G>A) c.9565G>A (p.Glu3189Lys) c.9559G>A (p.Glu3187Lys) c.7999G>A (p.Glu2667Lys) c.7492G>A (p.Glu2498Lys) c.2959G>A (p.Glu987Lys) c.9697G>A (p.Glu3233Lys) c.9646G>A (p.Glu3216Lys) n.10207G>A | |
| 6 | g.152369077T>A | CA366137654 | SYNE1 | c.1053A>T (p.Lys351Asn) c.9702A>T (p.Lys3234Asn) c.9723A>T (p.Lys3241Asn) c.9768A>T (p.Lys3256Asn) c.1050A>T (p.Lys350Asn) c.244+394A>T n.1251A>T c.9672A>T (p.Lys3224Asn) c.9651A>T (p.Lys3217Asn) c.9672+394A>T (n.9672+394A>T) c.9564A>T (p.Lys3188Asn) c.9558A>T (p.Lys3186Asn) c.7998A>T (p.Lys2666Asn) c.7491A>T (p.Lys2497Asn) c.2958A>T (p.Lys986Asn) c.9696A>T (p.Lys3232Asn) c.9645A>T (p.Lys3215Asn) n.10206A>T | |
| 6 | g.152369077T>C | CA452761272 | SYNE1 | c.1053A>G (p.Lys351=) c.9702A>G (p.Lys3234=) c.9723A>G (p.Lys3241=) c.9768A>G (p.Lys3256=) c.1050A>G (p.Lys350=) c.244+394A>G n.1251A>G c.9672A>G (p.Lys3224=) c.9651A>G (p.Lys3217=) c.9672+394A>G (n.9672+394A>G) c.9564A>G (p.Lys3188=) c.9558A>G (p.Lys3186=) c.7998A>G (p.Lys2666=) c.7491A>G (p.Lys2497=) c.2958A>G (p.Lys986=) c.9696A>G (p.Lys3232=) c.9645A>G (p.Lys3215=) n.10206A>G | |
| 6 | g.152369077T>G | CA366137655 | SYNE1 | c.1053A>C (p.Lys351Asn) c.9702A>C (p.Lys3234Asn) c.9723A>C (p.Lys3241Asn) c.9768A>C (p.Lys3256Asn) c.1050A>C (p.Lys350Asn) c.244+394A>C n.1251A>C c.9672A>C (p.Lys3224Asn) c.9651A>C (p.Lys3217Asn) c.9672+394A>C (n.9672+394A>C) c.9564A>C (p.Lys3188Asn) c.9558A>C (p.Lys3186Asn) c.7998A>C (p.Lys2666Asn) c.7491A>C (p.Lys2497Asn) c.2958A>C (p.Lys986Asn) c.9696A>C (p.Lys3232Asn) c.9645A>C (p.Lys3215Asn) n.10206A>C | COSMIC COSMIC COSMIC |