Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108655413_108655414delinsGA | CA2450708623 | COL4A5 | c.3329_3330delinsGA (p.Gly1110=) c.3005_3006delinsGA (p.Gly1002=) c.902_903delinsGA (p.Gly301=) c.3344_3345delinsGA (p.Gly1115=) c.1664_1665delinsGA (p.Gly555=) | |
X | g.108655414A>C | CA517926953 | COL4A5 | c.3330A>C (p.Gly1110=) c.3006A>C (p.Gly1002=) c.903A>C (p.Gly301=) c.3345A>C (p.Gly1115=) c.1665A>C (p.Gly555=) | |
X | g.108655414A>G | CA517926954 | COL4A5 | c.3330A>G (p.Gly1110=) c.3006A>G (p.Gly1002=) c.903A>G (p.Gly301=) c.3345A>G (p.Gly1115=) c.1665A>G (p.Gly555=) | gnomAD v4 |
X | g.108655414A>T | CA517926955 | COL4A5 | c.3330A>T (p.Gly1110=) c.3006A>T (p.Gly1002=) c.903A>T (p.Gly301=) c.3345A>T (p.Gly1115=) c.1665A>T (p.Gly555=) | |
X | g.108655415del | CA258857 | COL4A5 | c.3331del (p.Thr1111ProfsTer?) c.3007del (p.Thr1003ProfsTer?) c.904del (p.Thr302ProfsTer?) c.3346del (p.Thr1116ProfsTer?) c.1666del (p.Thr556ProfsTer?) | dbSNP |
X | g.108655415A>C | CA413857502 | COL4A5 | c.3331A>C (p.Thr1111Pro) c.3007A>C (p.Thr1003Pro) c.904A>C (p.Thr302Pro) c.3346A>C (p.Thr1116Pro) c.1666A>C (p.Thr556Pro) | |
X | g.108655415A>G | CA413857504 | COL4A5 | c.3331A>G (p.Thr1111Ala) c.3007A>G (p.Thr1003Ala) c.904A>G (p.Thr302Ala) c.3346A>G (p.Thr1116Ala) c.1666A>G (p.Thr556Ala) | |
X | g.108655415A>T | CA413857506 | COL4A5 | c.3331A>T (p.Thr1111Ser) c.3007A>T (p.Thr1003Ser) c.904A>T (p.Thr302Ser) c.3346A>T (p.Thr1116Ser) c.1666A>T (p.Thr556Ser) | |
X | g.108655416C>A | CA413857508 | COL4A5 | c.3332C>A (p.Thr1111Asn) c.3008C>A (p.Thr1003Asn) c.905C>A (p.Thr302Asn) c.3347C>A (p.Thr1116Asn) c.1667C>A (p.Thr556Asn) | gnomAD v4 |
X | g.108655416C>G | CA413857509 | COL4A5 | c.3332C>G (p.Thr1111Ser) c.3008C>G (p.Thr1003Ser) c.905C>G (p.Thr302Ser) c.3347C>G (p.Thr1116Ser) c.1667C>G (p.Thr556Ser) | gnomAD v4 |
X | g.108655416C>T | CA413857511 | COL4A5 | c.3332C>T (p.Thr1111Ile) c.3008C>T (p.Thr1003Ile) c.905C>T (p.Thr302Ile) c.3347C>T (p.Thr1116Ile) c.1667C>T (p.Thr556Ile) | |
X | g.108655417C>A | CA517926958 | COL4A5 | c.3333C>A (p.Thr1111=) c.3009C>A (p.Thr1003=) c.906C>A (p.Thr302=) c.3348C>A (p.Thr1116=) c.1668C>A (p.Thr556=) | |
X | g.108655417C= | CA2450708624 | COL4A5 | c.3333C= (p.Thr1111=) c.3009C= (p.Thr1003=) c.906C= (p.Thr302=) c.3348C= (p.Thr1116=) c.1668C= (p.Thr556=) | |
X | g.108655417C>G | CA517926959 | COL4A5 | c.3333C>G (p.Thr1111=) c.3009C>G (p.Thr1003=) c.906C>G (p.Thr302=) c.3348C>G (p.Thr1116=) c.1668C>G (p.Thr556=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108655417C>T | CA10489093 | COL4A5 | c.3333C>T (p.Thr1111=) c.3009C>T (p.Thr1003=) c.906C>T (p.Thr302=) c.3348C>T (p.Thr1116=) c.1668C>T (p.Thr556=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108655418C>A | CA413857514 | COL4A5 | c.3334C>A (p.Pro1112Thr) c.3010C>A (p.Pro1004Thr) c.907C>A (p.Pro303Thr) c.3349C>A (p.Pro1117Thr) c.1669C>A (p.Pro557Thr) | ClinVar |
X | g.108655418C>G | CA413857516 | COL4A5 | c.3334C>G (p.Pro1112Ala) c.3010C>G (p.Pro1004Ala) c.907C>G (p.Pro303Ala) c.3349C>G (p.Pro1117Ala) c.1669C>G (p.Pro557Ala) | |
X | g.108655418C>T | CA413857518 | COL4A5 | c.3334C>T (p.Pro1112Ser) c.3010C>T (p.Pro1004Ser) c.907C>T (p.Pro303Ser) c.3349C>T (p.Pro1117Ser) c.1669C>T (p.Pro557Ser) | |
X | g.108655418_108655421dup | CA258858 | COL4A5 | c.3334_3337dup (p.Gly1113AlafsTer25) c.3010_3013dup (p.Gly1005AlafsTer25) c.907_910dup (p.Gly304AlafsTer25) c.3349_3352dup (p.Gly1118AlafsTer25) c.1669_1672dup (p.Gly558AlafsTer25) | dbSNP |
X | g.108655419C>A | CA413857519 | COL4A5 | c.3335C>A (p.Pro1112His) c.3011C>A (p.Pro1004His) c.908C>A (p.Pro303His) c.3350C>A (p.Pro1117His) c.1670C>A (p.Pro557His) | |
X | g.108655419C>G | CA413857521 | COL4A5 | c.3335C>G (p.Pro1112Arg) c.3011C>G (p.Pro1004Arg) c.908C>G (p.Pro303Arg) c.3350C>G (p.Pro1117Arg) c.1670C>G (p.Pro557Arg) | |
X | g.108655419C>T | CA413857523 | COL4A5 | c.3335C>T (p.Pro1112Leu) c.3011C>T (p.Pro1004Leu) c.908C>T (p.Pro303Leu) c.3350C>T (p.Pro1117Leu) c.1670C>T (p.Pro557Leu) | dbSNP |
X | g.108655420T>A | CA517926961 | COL4A5 | c.3336T>A (p.Pro1112=) c.3012T>A (p.Pro1004=) c.909T>A (p.Pro303=) c.3351T>A (p.Pro1117=) c.1671T>A (p.Pro557=) | |
X | g.108655420T>C | CA517926962 | COL4A5 | c.3336T>C (p.Pro1112=) c.3012T>C (p.Pro1004=) c.909T>C (p.Pro303=) c.3351T>C (p.Pro1117=) c.1671T>C (p.Pro557=) | |
X | g.108655420T>G | CA517926964 | COL4A5 | c.3336T>G (p.Pro1112=) c.3012T>G (p.Pro1004=) c.909T>G (p.Pro303=) c.3351T>G (p.Pro1117=) c.1671T>G (p.Pro557=) | |
X | g.108655421G>A | CA413857529 | COL4A5 | c.3337G>A (p.Gly1113Arg) c.3013G>A (p.Gly1005Arg) c.910G>A (p.Gly304Arg) c.3352G>A (p.Gly1118Arg) c.1672G>A (p.Gly558Arg) | |
X | g.108655421G>C | CA413857527 | COL4A5 | c.3337G>C (p.Gly1113Arg) c.3013G>C (p.Gly1005Arg) c.910G>C (p.Gly304Arg) c.3352G>C (p.Gly1118Arg) c.1672G>C (p.Gly558Arg) | |
X | g.108655421G>T | CA413857525 | COL4A5 | c.3337G>T (p.Gly1113Ter) c.3013G>T (p.Gly1005Ter) c.910G>T (p.Gly304Ter) c.3352G>T (p.Gly1118Ter) c.1672G>T (p.Gly558Ter) | |
X | g.108655422G>A | CA413857532 | COL4A5 | c.3338G>A (p.Gly1113Glu) c.3014G>A (p.Gly1005Glu) c.911G>A (p.Gly304Glu) c.3353G>A (p.Gly1118Glu) c.1673G>A (p.Gly558Glu) | |
X | g.108655422G>C | CA334066777 | COL4A5 | c.3338G>C (p.Gly1113Ala) c.3014G>C (p.Gly1005Ala) c.911G>C (p.Gly304Ala) c.3353G>C (p.Gly1118Ala) c.1673G>C (p.Gly558Ala) | dbSNP |
X | g.108655422G= | CA2450708625 | COL4A5 | c.3338G= (p.Gly1113=) c.3014G= (p.Gly1005=) c.911G= (p.Gly304=) c.3353G= (p.Gly1118=) c.1673G= (p.Gly558=) | |
X | g.108655422G>T | CA413857535 | COL4A5 | c.3338G>T (p.Gly1113Val) c.3014G>T (p.Gly1005Val) c.911G>T (p.Gly304Val) c.3353G>T (p.Gly1118Val) c.1673G>T (p.Gly558Val) | |
X | g.108655423A= | CA2450708626 | COL4A5 | c.3339A= (p.Gly1113=) c.3015A= (p.Gly1005=) c.912A= (p.Gly304=) c.3354A= (p.Gly1118=) c.1674A= (p.Gly558=) | |
X | g.108655423A>C | CA517926965 | COL4A5 | c.3339A>C (p.Gly1113=) c.3015A>C (p.Gly1005=) c.912A>C (p.Gly304=) c.3354A>C (p.Gly1118=) c.1674A>C (p.Gly558=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108655423A>G | CA517926967 | COL4A5 | c.3339A>G (p.Gly1113=) c.3015A>G (p.Gly1005=) c.912A>G (p.Gly304=) c.3354A>G (p.Gly1118=) c.1674A>G (p.Gly558=) | |
X | g.108655423A>T | CA517926966 | COL4A5 | c.3339A>T (p.Gly1113=) c.3015A>T (p.Gly1005=) c.912A>T (p.Gly304=) c.3354A>T (p.Gly1118=) c.1674A>T (p.Gly558=) | |
X | g.108655424G>A | CA413857537 | COL4A5 | c.3340G>A (p.Ala1114Thr) c.3016G>A (p.Ala1006Thr) c.913G>A (p.Ala305Thr) c.3355G>A (p.Ala1119Thr) c.1675G>A (p.Ala559Thr) | COSMIC COSMIC |
X | g.108655424G>C | CA413857539 | COL4A5 | c.3340G>C (p.Ala1114Pro) c.3016G>C (p.Ala1006Pro) c.913G>C (p.Ala305Pro) c.3355G>C (p.Ala1119Pro) c.1675G>C (p.Ala559Pro) | |
X | g.108655424G>T | CA413857540 | COL4A5 | c.3340G>T (p.Ala1114Ser) c.3016G>T (p.Ala1006Ser) c.913G>T (p.Ala305Ser) c.3355G>T (p.Ala1119Ser) c.1675G>T (p.Ala559Ser) | |
X | g.108655425C>A | CA413857542 | COL4A5 | c.3341C>A (p.Ala1114Glu) c.3017C>A (p.Ala1006Glu) c.914C>A (p.Ala305Glu) c.3356C>A (p.Ala1119Glu) c.1676C>A (p.Ala559Glu) | gnomAD v4 |
X | g.108655425C>G | CA413857544 | COL4A5 | c.3341C>G (p.Ala1114Gly) c.3017C>G (p.Ala1006Gly) c.914C>G (p.Ala305Gly) c.3356C>G (p.Ala1119Gly) c.1676C>G (p.Ala559Gly) | |
X | g.108655425C>T | CA413857546 | COL4A5 | c.3341C>T (p.Ala1114Val) c.3017C>T (p.Ala1006Val) c.914C>T (p.Ala305Val) c.3356C>T (p.Ala1119Val) c.1676C>T (p.Ala559Val) | dbSNP |
X | g.108655426A>C | CA517926968 | COL4A5 | c.3342A>C (p.Ala1114=) c.3018A>C (p.Ala1006=) c.915A>C (p.Ala305=) c.3357A>C (p.Ala1119=) c.1677A>C (p.Ala559=) | |
X | g.108655426A>G | CA517926969 | COL4A5 | c.3342A>G (p.Ala1114=) c.3018A>G (p.Ala1006=) c.915A>G (p.Ala305=) c.3357A>G (p.Ala1119=) c.1677A>G (p.Ala559=) | |
X | g.108655426A>T | CA517926970 | COL4A5 | c.3342A>T (p.Ala1114=) c.3018A>T (p.Ala1006=) c.915A>T (p.Ala305=) c.3357A>T (p.Ala1119=) c.1677A>T (p.Ala559=) | |
X | g.108655427A>C | CA413857548 | COL4A5 | c.3343A>C (p.Lys1115Gln) c.3019A>C (p.Lys1007Gln) c.916A>C (p.Lys306Gln) c.3358A>C (p.Lys1120Gln) c.1678A>C (p.Lys560Gln) | |
X | g.108655427A>G | CA413857550 | COL4A5 | c.3343A>G (p.Lys1115Glu) c.3019A>G (p.Lys1007Glu) c.916A>G (p.Lys306Glu) c.3358A>G (p.Lys1120Glu) c.1678A>G (p.Lys560Glu) | |
X | g.108655427A>T | CA413857552 | COL4A5 | c.3343A>T (p.Lys1115Ter) c.3019A>T (p.Lys1007Ter) c.916A>T (p.Lys306Ter) c.3358A>T (p.Lys1120Ter) c.1678A>T (p.Lys560Ter) | |
X | g.108655428A>C | CA413857556 | COL4A5 | c.3344A>C (p.Lys1115Thr) c.3020A>C (p.Lys1007Thr) c.917A>C (p.Lys306Thr) c.3359A>C (p.Lys1120Thr) c.1679A>C (p.Lys560Thr) | |
X | g.108655428A>G | CA413857555 | COL4A5 | c.3344A>G (p.Lys1115Arg) c.3020A>G (p.Lys1007Arg) c.917A>G (p.Lys306Arg) c.3359A>G (p.Lys1120Arg) c.1679A>G (p.Lys560Arg) |