Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.229432433_229432556del | CA2650926678 | ACTA1 | c.454+2_455del c.319+2_320del | gnomAD v4 |
1 | g.229432451_229432530del | CA1442857 | ACTA1 | c.454+35_455-11del (n.454+35_455-11del) c.319+35_320-11del (n.319+35_320-11del) | ExAC gnomAD v4 |
1 | g.229432468_229432542del | CA2650926696 | ACTA1 | c.454+22_455-29del (n.454+22_455-29del) c.319+22_320-29del (n.319+22_320-29del) | gnomAD v4 |
1 | g.229432469_229432524del | CA2650926697 | ACTA1 | c.454+39_455-31del (n.454+39_455-31del) c.319+39_320-31del (n.319+39_320-31del) | gnomAD v4 |
1 | g.229432496_229432514delinsCGGCGGGGGCGGGGGCGGG | CA1226125820 | ACTA1 | c.454+42_454+60delinsCCCGCCCCCGCCCCCGCCG (n.454+42_454+60delinsCCCGCCCCCGCCCCCGCCG) c.319+42_319+60delinsCCCGCCCCCGCCCCCGCCG (n.319+42_319+60delinsCCCGCCCCCGCCCCCGCCG) | |
1 | g.229432521_229432526dup | CA423755156 | ACTA1 | c.454+54_454+59dup (n.454+54_454+59dup) c.319+54_319+59dup (n.319+54_319+59dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432515_229432526dup | CA529915310 | ACTA1 | c.454+48_454+59dup (n.454+48_454+59dup) c.319+48_319+59dup (n.319+48_319+59dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432509_229432526dup | CA2650926728 | ACTA1 | c.454+42_454+59dup (n.454+42_454+59dup) c.319+42_319+59dup (n.319+42_319+59dup) | gnomAD v4 |
1 | g.229432521_229432526del | CA529915309 | ACTA1 | c.454+54_454+59del (n.454+54_454+59del) c.319+54_319+59del (n.319+54_319+59del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432515_229432526del | CA529915308 | ACTA1 | c.454+48_454+59del (n.454+48_454+59del) c.319+48_319+59del (n.319+48_319+59del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432509_229432526del | CA916422669 | ACTA1 | c.454+42_454+59del (n.454+42_454+59del) c.319+42_319+59del (n.319+42_319+59del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432503_229432526del | CA2650926725 | ACTA1 | c.454+36_454+59del (n.454+36_454+59del) c.319+36_319+59del (n.319+36_319+59del) | gnomAD v4 |
1 | g.229432504_229432533del | CA2650926733 | ACTA1 | c.454+27_454+56del (n.454+27_454+56del) c.319+27_319+56del (n.319+27_319+56del) | gnomAD v4 |
1 | g.229432514_229432515insAGCGGG | CA1013145593 | ACTA1 | c.454+46_454+47insTCCCGC (n.454+46_454+47insTCCCGC) c.319+46_319+47insTCCCGC (n.319+46_319+47insTCCCGC) | gnomAD v3 gnomAD v4 |
1 | g.229432516_229432517insGGGGGG | CA2650926775 | ACTA1 | c.454+44_454+45insCCCCCC (n.454+44_454+45insCCCCCC) c.319+44_319+45insCCCCCC (n.319+44_319+45insCCCCCC) | gnomAD v4 |
1 | g.229432516_229432517insTGGGGG | CA2650926767 | ACTA1 | c.454+44_454+45insACCCCC (n.454+44_454+45insACCCCC) c.319+44_319+45insACCCCC (n.319+44_319+45insACCCCC) | gnomAD v4 |
1 | g.229432516_229432517insGGGGGGGGG | CA2748068691 | ACTA1 | c.454+44_454+45insCCCCCCCCC (n.454+44_454+45insCCCCCCCCC) c.319+44_319+45insCCCCCCCCC (n.319+44_319+45insCCCCCCCCC) | |
1 | g.229432516_229432517insGGGGGGGGGGGGG | CA2650926774 | ACTA1 | c.454+44_454+45insCCCCCCCCCCCCC (n.454+44_454+45insCCCCCCCCCCCCC) c.319+44_319+45insCCCCCCCCCCCCC (n.319+44_319+45insCCCCCCCCCCCCC) | gnomAD v4 |
1 | g.229432516_229432517insGGGGGGGGGGGGGG | CA1013145647 | ACTA1 | c.454+44_454+45insCCCCCCCCCCCCCC (n.454+44_454+45insCCCCCCCCCCCCCC) c.319+44_319+45insCCCCCCCCCCCCCC (n.319+44_319+45insCCCCCCCCCCCCCC) | gnomAD v3 gnomAD v4 |
1 | g.229432516_229432517insGGGGGGGGGGGGGGGGG | CA2650926773 | ACTA1 | c.454+44_454+45insCCCCCCCCCCCCCCCCC (n.454+44_454+45insCCCCCCCCCCCCCCCCC) c.319+44_319+45insCCCCCCCCCCCCCCCCC (n.319+44_319+45insCCCCCCCCCCCCCCCCC) | gnomAD v4 |
1 | g.229432516_229432517insGGGGGGGGGGGGGGGGGGG | CA2650926772 | ACTA1 | c.454+44_454+45insCCCCCCCCCCCCCCCCCCC (n.454+44_454+45insCCCCCCCCCCCCCCCCCCC) c.319+44_319+45insCCCCCCCCCCCCCCCCCCC (n.319+44_319+45insCCCCCCCCCCCCCCCCCCC) | gnomAD v4 |
1 | g.229432516_229432517insGGGGGGGGGGGGGGGGGGGG | CA2748068692 | ACTA1 | c.454+44_454+45insCCCCCCCCCCCCCCCCCCCC (n.454+44_454+45insCCCCCCCCCCCCCCCCCCCC) c.319+44_319+45insCCCCCCCCCCCCCCCCCCCC (n.319+44_319+45insCCCCCCCCCCCCCCCCCCCC) | |
1 | g.229432516_229432517insGGGGGGGGGGGGGGGGGGGGG | CA1013145650 | ACTA1 | c.454+44_454+45insCCCCCCCCCCCCCCCCCCCCC (n.454+44_454+45insCCCCCCCCCCCCCCCCCCCCC) c.319+44_319+45insCCCCCCCCCCCCCCCCCCCCC (n.319+44_319+45insCCCCCCCCCCCCCCCCCCCCC) | gnomAD v3 gnomAD v4 |
1 | g.229432516_229432517insGGGGGGGGGGGGGGGGGGGGGGG | CA2650926771 | ACTA1 | c.454+44_454+45insCCCCCCCCCCCCCCCCCCCCCCC (n.454+44_454+45insCCCCCCCCCCCCCCCCCCCCCCC) c.319+44_319+45insCCCCCCCCCCCCCCCCCCCCCCC (n.319+44_319+45insCCCCCCCCCCCCCCCCCCCCCCC) | gnomAD v4 |
1 | g.229432516_229432517insGGGGGGGGGGGGGGGGGGGGGGGG | CA2650926776 | ACTA1 | c.454+44_454+45insCCCCCCCCCCCCCCCCCCCCCCCC (n.454+44_454+45insCCCCCCCCCCCCCCCCCCCCCCCC) c.319+44_319+45insCCCCCCCCCCCCCCCCCCCCCCCC (n.319+44_319+45insCCCCCCCCCCCCCCCCCCCCCCCC) | gnomAD v4 |
1 | g.229432516_229432517insGGGGGGGGGGGGGGGGGGGGGGGGG | CA2650926770 | ACTA1 | c.454+44_454+45insCCCCCCCCCCCCCCCCCCCCCCCCC (n.454+44_454+45insCCCCCCCCCCCCCCCCCCCCCCCCC) c.319+44_319+45insCCCCCCCCCCCCCCCCCCCCCCCCC (n.319+44_319+45insCCCCCCCCCCCCCCCCCCCCCCCCC) | gnomAD v4 |
1 | g.229432516_229432517insGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2650926769 | ACTA1 | c.454+44_454+45insCCCCCCCCCCCCCCCCCCCCCCCCCC (n.454+44_454+45insCCCCCCCCCCCCCCCCCCCCCCCCCC) c.319+44_319+45insCCCCCCCCCCCCCCCCCCCCCCCCCC (n.319+44_319+45insCCCCCCCCCCCCCCCCCCCCCCCCCC) | gnomAD v4 |
1 | g.229432516_229432517insGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2650926766 | ACTA1 | c.454+44_454+45insCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.454+44_454+45insCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.319+44_319+45insCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.319+44_319+45insCCCCCCCCCCCCCCCCCCCCCCCCCCC) | gnomAD v4 |
1 | g.229432516_229432517insGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2650926768 | ACTA1 | c.454+44_454+45insCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.454+44_454+45insCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.319+44_319+45insCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.319+44_319+45insCCCCCCCCCCCCCCCCCCCCCCCCCCCC) | gnomAD v4 |
1 | g.229432516dup | CA2748068690 | ACTA1 | c.454+44dup (n.454+44dup) c.319+44dup (n.319+44dup) | |
1 | g.229432516del | CA2574151319 | ACTA1 | c.454+44del (n.454+44del) c.319+44del (n.319+44del) | |
1 | g.229432514G>A | CA1013145653 | ACTA1 | c.454+42C>T (n.454+42C>T) c.319+42C>T (n.319+42C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432514G>C | CA2650926781 | ACTA1 | c.454+42C>G (n.454+42C>G) c.319+42C>G (n.319+42C>G) | gnomAD v4 |
1 | g.229432514G= | CA1226125837 | ACTA1 | c.454+42C= (n.454+42C=) c.319+42C= (n.319+42C=) | |
1 | g.229432514G>T | CA2574151320 | ACTA1 | c.454+42C>A (n.454+42C>A) c.319+42C>A (n.319+42C>A) | gnomAD v4 |
1 | g.229432518_229432519insAGGGCG | CA2650926780 | ACTA1 | c.454+42_454+43insTCGCCC (n.454+42_454+43insTCGCCC) c.319+42_319+43insTCGCCC (n.319+42_319+43insTCGCCC) | gnomAD v4 |
1 | g.229432518_229432519insCGGGCG | CA2650926779 | ACTA1 | c.454+42_454+43insGCGCCC (n.454+42_454+43insGCGCCC) c.319+42_319+43insGCGCCC (n.319+42_319+43insGCGCCC) | gnomAD v4 |
1 | g.229432515G>A | CA2650926783 | ACTA1 | c.454+41C>T (n.454+41C>T) c.319+41C>T (n.319+41C>T) | gnomAD v4 |
1 | g.229432515G>T | CA2650926782 | ACTA1 | c.454+41C>A (n.454+41C>A) c.319+41C>A (n.319+41C>A) | gnomAD v4 |
1 | g.229432519_229432520insAGGCGG | CA2650926784 | ACTA1 | c.454+41_454+42insTCCGCC (n.454+41_454+42insTCCGCC) c.319+41_319+42insTCCGCC (n.319+41_319+42insTCCGCC) | gnomAD v4 |
1 | g.229432516G>A | CA732581067 | ACTA1 | c.454+40C>T (n.454+40C>T) c.319+40C>T (n.319+40C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432516G= | CA1226125838 | ACTA1 | c.454+40C= (n.454+40C=) c.319+40C= (n.319+40C=) | |
1 | g.229432516G>T | CA1226125839 | ACTA1 | c.454+40C>A (n.454+40C>A) c.319+40C>A (n.319+40C>A) | dbSNP gnomAD v4 |
1 | g.229432516_229432517delinsGC | CA1226125840 | ACTA1 | c.454+39_454+40delinsGC (n.454+39_454+40delinsGC) c.319+39_319+40delinsGC (n.319+39_319+40delinsGC) | |
1 | g.229432517_229432518del | CA2574151321 | ACTA1 | c.454+39_454+40del (n.454+39_454+40del) c.319+39_319+40del (n.319+39_319+40del) | |
1 | g.229432517del | CA1013145659 | ACTA1 | c.454+39del (n.454+39del) c.319+39del (n.319+39del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432517C>A | CA2650926785 | ACTA1 | c.454+39G>T (n.454+39G>T) c.319+39G>T (n.319+39G>T) | gnomAD v4 |
1 | g.229432517C= | CA1226125841 | ACTA1 | c.454+39G= (n.454+39G=) c.319+39G= (n.319+39G=) | |
1 | g.229432517C>G | CA1442865 | ACTA1 | c.454+39G>C (n.454+39G>C) c.319+39G>C (n.319+39G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432517C>T | CA1226125842 | ACTA1 | c.454+39G>A (n.454+39G>A) c.319+39G>A (n.319+39G>A) | dbSNP gnomAD v4 |
1 | g.229432517_229432518insT | CA345149021 | ACTA1 | c.454+38_454+39insA (n.454+38_454+39insA) c.319+38_319+39insA (n.319+38_319+39insA) | dbSNP |
1 | g.229432518G>A | CA529915316 | ACTA1 | c.454+38C>T (n.454+38C>T) c.319+38C>T (n.319+38C>T) | dbSNP gnomAD v2 |
1 | g.229432518G>C | CA529915317 | ACTA1 | c.454+38C>G (n.454+38C>G) c.319+38C>G (n.319+38C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432518G= | CA1226125843 | ACTA1 | c.454+38C= (n.454+38C=) c.319+38C= (n.319+38C=) | |
1 | g.229432518G>T | CA2650926787 | ACTA1 | c.454+38C>A (n.454+38C>A) c.319+38C>A (n.319+38C>A) | gnomAD v4 |
1 | g.229432522_229432523insGGGGGG | CA2650926796 | ACTA1 | c.454+38_454+39insCCCCCC (n.454+38_454+39insCCCCCC) c.319+38_319+39insCCCCCC (n.319+38_319+39insCCCCCC) | gnomAD v4 |
1 | g.229432522_229432523insGGGGGGGGGGGGG | CA2650926795 | ACTA1 | c.454+38_454+39insCCCCCCCCCCCCC (n.454+38_454+39insCCCCCCCCCCCCC) c.319+38_319+39insCCCCCCCCCCCCC (n.319+38_319+39insCCCCCCCCCCCCC) | gnomAD v4 |
1 | g.229432522_229432523insGGGGGGGGGGGGGGGGGGG | CA2650926794 | ACTA1 | c.454+38_454+39insCCCCCCCCCCCCCCCCCCC (n.454+38_454+39insCCCCCCCCCCCCCCCCCCC) c.319+38_319+39insCCCCCCCCCCCCCCCCCCC (n.319+38_319+39insCCCCCCCCCCCCCCCCCCC) | gnomAD v4 |
1 | g.229432522_229432523insGGGGGGGGGGGGGGGGGGGGGG | CA2650926793 | ACTA1 | c.454+38_454+39insCCCCCCCCCCCCCCCCCCCCCC (n.454+38_454+39insCCCCCCCCCCCCCCCCCCCCCC) c.319+38_319+39insCCCCCCCCCCCCCCCCCCCCCC (n.319+38_319+39insCCCCCCCCCCCCCCCCCCCCCC) | gnomAD v4 |
1 | g.229432522_229432523insGGGGGGGGGGGGGGGGGGGGGGGGG | CA2650926792 | ACTA1 | c.454+38_454+39insCCCCCCCCCCCCCCCCCCCCCCCCC (n.454+38_454+39insCCCCCCCCCCCCCCCCCCCCCCCCC) c.319+38_319+39insCCCCCCCCCCCCCCCCCCCCCCCCC (n.319+38_319+39insCCCCCCCCCCCCCCCCCCCCCCCCC) | gnomAD v4 |
1 | g.229432522_229432523insGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2650926791 | ACTA1 | c.454+38_454+39insCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.454+38_454+39insCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.319+38_319+39insCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.319+38_319+39insCCCCCCCCCCCCCCCCCCCCCCCCCCC) | gnomAD v4 |
1 | g.229432522_229432523insGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2650926799 | ACTA1 | c.454+38_454+39insCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.454+38_454+39insCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.319+38_319+39insCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.319+38_319+39insCCCCCCCCCCCCCCCCCCCCCCCCCCCC) | gnomAD v4 |
1 | g.229432522_229432523insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2650926790 | ACTA1 | c.454+38_454+39insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.454+38_454+39insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.319+38_319+39insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.319+38_319+39insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) | gnomAD v4 |
1 | g.229432522_229432523insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2650926789 | ACTA1 | c.454+38_454+39insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.454+38_454+39insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.319+38_319+39insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.319+38_319+39insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) | gnomAD v4 |
1 | g.229432522_229432523insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2650926788 | ACTA1 | c.454+38_454+39insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.454+38_454+39insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.319+38_319+39insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.319+38_319+39insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) | gnomAD v4 |
1 | g.229432522_229432523insGTCGGCGCGCCGCGCGGGCGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2650926786 | ACTA1 | c.454+38_454+39insCCCCCCCCCCCCCCCCCCCCCGCCCGCGCGGCGCGCCGACCCCCC (n.454+38_454+39insCCCCCCCCCCCCCCCCCCCCCGCCCGCGCGGCGCGCCGACCCCCC) c.319+38_319+39insCCCCCCCCCCCCCCCCCCCCCGCCCGCGCGGCGCGCCGACCCCCC (n.319+38_319+39insCCCCCCCCCCCCCCCCCCCCCGCCCGCGCGGCGCGCCGACCCCCC) | gnomAD v4 |
1 | g.229432520_229432522dup | CA2650926798 | ACTA1 | c.454+36_454+38dup (n.454+36_454+38dup) c.319+36_319+38dup (n.319+36_319+38dup) | gnomAD v4 |
1 | g.229432521_229432522del | CA2748068697 | ACTA1 | c.454+37_454+38del (n.454+37_454+38del) c.319+37_319+38del (n.319+37_319+38del) | |
1 | g.229432526_229432527insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGG | CA2650926797 | ACTA1 | c.454+38_454+39insCCCCCCCCCCCCCCCCCCCCCCCCCCCGCCCCC (n.454+38_454+39insCCCCCCCCCCCCCCCCCCCCCCCCCCCGCCCCC) c.319+38_319+39insCCCCCCCCCCCCCCCCCCCCCCCCCCCGCCCCC (n.319+38_319+39insCCCCCCCCCCCCCCCCCCCCCCCCCCCGCCCCC) | gnomAD v4 |
1 | g.229432519G>A | CA529915318 | ACTA1 | c.454+37C>T (n.454+37C>T) c.319+37C>T (n.319+37C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432519G= | CA1226125844 | ACTA1 | c.454+37C= (n.454+37C=) c.319+37C= (n.319+37C=) | |
1 | g.229432523_229432524insCGGGGC | CA2574151322 | ACTA1 | c.454+37_454+38insGGCCCC (n.454+37_454+38insGGCCCC) c.319+37_319+38insGGCCCC (n.319+37_319+38insGGCCCC) | |
1 | g.229432520G>A | CA1442866 | ACTA1 | c.454+36C>T (n.454+36C>T) c.319+36C>T (n.319+36C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432520G= | CA1147424887 | ACTA1 | c.454+36C= (n.454+36C=) c.319+36C= (n.319+36C=) | |
1 | g.229432520G>T | CA2650926800 | ACTA1 | c.454+36C>A (n.454+36C>A) c.319+36C>A (n.319+36C>A) | gnomAD v4 |
1 | g.229432523_229432526del | CA2574151323 | ACTA1 | c.454+33_454+36del (n.454+33_454+36del) c.319+33_319+36del (n.319+33_319+36del) | |
1 | g.229432521G>A | CA2650926802 | ACTA1 | c.454+35C>T (n.454+35C>T) c.319+35C>T (n.319+35C>T) | gnomAD v4 |
1 | g.229432521G>T | CA2574151325 | ACTA1 | c.454+35C>A (n.454+35C>A) c.319+35C>A (n.319+35C>A) | gnomAD v4 |
1 | g.229432525_229432526insAGGCGG | CA2650926801 | ACTA1 | c.454+35_454+36insTCCGCC (n.454+35_454+36insTCCGCC) c.319+35_319+36insTCCGCC (n.319+35_319+36insTCCGCC) | gnomAD v4 |
1 | g.229432523_229432525del | CA2574151324 | ACTA1 | c.454+33_454+35del (n.454+33_454+35del) c.319+33_319+35del (n.319+33_319+35del) | |
1 | g.229432521_229432522insCTCT | CA2514869003 | ACTA1 | c.454+34_454+35insAGAG (n.454+34_454+35insAGAG) c.319+34_319+35insAGAG (n.319+34_319+35insAGAG) | |
1 | g.229432522G>A | CA1442867 | ACTA1 | c.454+34C>T (n.454+34C>T) c.319+34C>T (n.319+34C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432522G>C | CA529915319 | ACTA1 | c.454+34C>G (n.454+34C>G) c.319+34C>G (n.319+34C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432522G= | CA1226125845 | ACTA1 | c.454+34C= (n.454+34C=) c.319+34C= (n.319+34C=) | |
1 | g.229432522G>T | CA529915320 | ACTA1 | c.454+34C>A (n.454+34C>A) c.319+34C>A (n.319+34C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432523_229432528del | CA2574151326 | ACTA1 | c.454+29_454+34del (n.454+29_454+34del) c.319+29_319+34del (n.319+29_319+34del) | |
1 | g.229432523del | CA2574151327 | ACTA1 | c.454+33del (n.454+33del) c.319+33del (n.319+33del) | |
1 | g.229432523C>A | CA1226125847 | ACTA1 | c.454+33G>T (n.454+33G>T) c.319+33G>T (n.319+33G>T) | dbSNP gnomAD v4 |
1 | g.229432523C= | CA1226125846 | ACTA1 | c.454+33G= (n.454+33G=) c.319+33G= (n.319+33G=) | |
1 | g.229432523C>G | CA1442868 | ACTA1 | c.454+33G>C (n.454+33G>C) c.319+33G>C (n.319+33G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432523C>T | CA2574151329 | ACTA1 | c.454+33G>A (n.454+33G>A) c.319+33G>A (n.319+33G>A) | gnomAD v4 |
1 | g.229432523_229432524insTC | CA2748068700 | ACTA1 | c.454+33_454+34insAG (n.454+33_454+34insAG) c.319+33_319+34insAG (n.319+33_319+34insAG) | |
1 | g.229432526_229432527insGACGGG | CA2748068699 | ACTA1 | c.454+33_454+34insTCCCCG (n.454+33_454+34insTCCCCG) c.319+33_319+34insTCCCCG (n.319+33_319+34insTCCCCG) | |
1 | g.229432523_229432527del | CA2574151328 | ACTA1 | c.454+29_454+33del (n.454+29_454+33del) c.319+29_319+33del (n.319+29_319+33del) | |
1 | g.229432523_229432524insCG | CA2748068701 | ACTA1 | c.454+32_454+33insCG (n.454+32_454+33insCG) c.319+32_319+33insCG (n.319+32_319+33insCG) | |
1 | g.229432524G>A | CA2650926804 | ACTA1 | c.454+32C>T (n.454+32C>T) c.319+32C>T (n.319+32C>T) | gnomAD v4 |
1 | g.229432524G>C | CA1226125849 | ACTA1 | c.454+32C>G (n.454+32C>G) c.319+32C>G (n.319+32C>G) | dbSNP |
1 | g.229432524G= | CA1226125848 | ACTA1 | c.454+32C= (n.454+32C=) c.319+32C= (n.319+32C=) | |
1 | g.229432524G>T | CA2650926805 | ACTA1 | c.454+32C>A (n.454+32C>A) c.319+32C>A (n.319+32C>A) | gnomAD v4 |
1 | g.229432524_229432526del | CA2574151331 | ACTA1 | c.454+30_454+32del (n.454+30_454+32del) c.319+30_319+32del (n.319+30_319+32del) | |
1 | g.229432526_229432527insGGGGGG | CA1013145686 | ACTA1 | c.454+32_454+33insCCCCCC (n.454+32_454+33insCCCCCC) c.319+32_319+33insCCCCCC (n.319+32_319+33insCCCCCC) | gnomAD v3 gnomAD v4 |
1 | g.229432526_229432527insGGTGGG | CA2650926806 | ACTA1 | c.454+32_454+33insACCCCC (n.454+32_454+33insACCCCC) c.319+32_319+33insACCCCC (n.319+32_319+33insACCCCC) | gnomAD v4 |
1 | g.229432526_229432527insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2650926803 | ACTA1 | c.454+32_454+33insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.454+32_454+33insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) c.319+32_319+33insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (n.319+32_319+33insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC) | gnomAD v4 |
1 | g.229432526dup | CA2574151330 | ACTA1 | c.454+32dup (n.454+32dup) c.319+32dup (n.319+32dup) | |
1 | g.229432525_229432528del | CA2574151332 | ACTA1 | c.454+29_454+32del (n.454+29_454+32del) c.319+29_319+32del (n.319+29_319+32del) | |
1 | g.229432525G>T | CA2650926807 | ACTA1 | c.454+31C>A (n.454+31C>A) c.319+31C>A (n.319+31C>A) | gnomAD v4 |
1 | g.229432526_229432527insGGCAGG | CA1226125850 | ACTA1 | c.454+31_454+32insTGCCCC (n.454+31_454+32insTGCCCC) c.319+31_319+32insTGCCCC (n.319+31_319+32insTGCCCC) | dbSNP |
1 | g.229432527_229432531del | CA2574151333 | ACTA1 | c.454+27_454+31del (n.454+27_454+31del) c.319+27_319+31del (n.319+27_319+31del) | |
1 | g.229432526G>A | CA2559711747 | ACTA1 | c.454+30C>T (n.454+30C>T) c.319+30C>T (n.319+30C>T) | |
1 | g.229432526G>C | CA2574151335 | ACTA1 | c.454+30C>G (n.454+30C>G) c.319+30C>G (n.319+30C>G) | gnomAD v4 |
1 | g.229432526G>T | CA2650926808 | ACTA1 | c.454+30C>A (n.454+30C>A) c.319+30C>A (n.319+30C>A) | gnomAD v4 |
1 | g.229432526_229432529delinsGAGA | CA1226125851 | ACTA1 | c.454+27_454+30delinsTCTC (n.454+27_454+30delinsTCTC) c.319+27_319+30delinsTCTC (n.319+27_319+30delinsTCTC) | |
1 | g.229432527_229432530del | CA2574151334 | ACTA1 | c.454+27_454+30del (n.454+27_454+30del) c.319+27_319+30del (n.319+27_319+30del) | |
1 | g.229432526_229432527insT | CA2748068703 | ACTA1 | c.454+29_454+30insA (n.454+29_454+30insA) c.319+29_319+30insA (n.319+29_319+30insA) | |
1 | g.229432526_229432527insGC | CA2574151336 | ACTA1 | c.454+29_454+30insGC (n.454+29_454+30insGC) c.319+29_319+30insGC (n.319+29_319+30insGC) | |
1 | g.229432526_229432527insGGC | CA2574151337 | ACTA1 | c.454+29_454+30insGCC (n.454+29_454+30insGCC) c.319+29_319+30insGCC (n.319+29_319+30insGCC) | |
1 | g.229432527A= | CA1226125852 | ACTA1 | c.454+29T= (n.454+29T=) c.319+29T= (n.319+29T=) | |
1 | g.229432527A>C | CA529915322 | ACTA1 | c.454+29T>G (n.454+29T>G) c.319+29T>G (n.319+29T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432527A>G | CA38816055 | ACTA1 | c.454+29T>C (n.454+29T>C) c.319+29T>C (n.319+29T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432527A>T | CA529915323 | ACTA1 | c.454+29T>A (n.454+29T>A) c.319+29T>A (n.319+29T>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432527_229432529del | CA529915321 | ACTA1 | c.454+27_454+29del (n.454+27_454+29del) c.319+27_319+29del (n.319+27_319+29del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432528G= | CA1226125853 | ACTA1 | c.454+28C= (n.454+28C=) c.319+28C= (n.319+28C=) | |
1 | g.229432528G>T | CA1442869 | ACTA1 | c.454+28C>A (n.454+28C>A) c.319+28C>A (n.319+28C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432529A= | CA1226125854 | ACTA1 | c.454+27T= (n.454+27T=) c.319+27T= (n.319+27T=) | |
1 | g.229432529A>C | CA529915324 | ACTA1 | c.454+27T>G (n.454+27T>G) c.319+27T>G (n.319+27T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432529A>G | CA529915325 | ACTA1 | c.454+27T>C (n.454+27T>C) c.319+27T>C (n.319+27T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432529A>T | CA2537726852 | ACTA1 | c.454+27T>A (n.454+27T>A) c.319+27T>A (n.319+27T>A) | gnomAD v4 |
1 | g.229432530G>A | CA1226125856 | ACTA1 | c.454+26C>T (n.454+26C>T) c.319+26C>T (n.319+26C>T) | dbSNP |
1 | g.229432530G>C | CA2650926809 | ACTA1 | c.454+26C>G (n.454+26C>G) c.319+26C>G (n.319+26C>G) | gnomAD v4 |
1 | g.229432530G= | CA1226125855 | ACTA1 | c.454+26C= (n.454+26C=) c.319+26C= (n.319+26C=) | |
1 | g.229432531G>A | CA529915326 | ACTA1 | c.454+25C>T (n.454+25C>T) c.319+25C>T (n.319+25C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432531G= | CA1226125857 | ACTA1 | c.454+25C= (n.454+25C=) c.319+25C= (n.319+25C=) | |
1 | g.229432531G>T | CA2574151338 | ACTA1 | c.454+25C>A (n.454+25C>A) c.319+25C>A (n.319+25C>A) | |
1 | g.229432532G>A | CA1013145692 | ACTA1 | c.454+24C>T (n.454+24C>T) c.319+24C>T (n.319+24C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432532G= | CA1226125858 | ACTA1 | c.454+24C= (n.454+24C=) c.319+24C= (n.319+24C=) | |
1 | g.229432532G>T | CA2574151339 | ACTA1 | c.454+24C>A (n.454+24C>A) c.319+24C>A (n.319+24C>A) | |
1 | g.229432532_229432533insC | CA2650926810 | ACTA1 | c.454+23_454+24insG (n.454+23_454+24insG) c.319+23_319+24insG (n.319+23_319+24insG) | gnomAD v4 |
1 | g.229432533G>A | CA2650926813 | ACTA1 | c.454+23C>T (n.454+23C>T) c.319+23C>T (n.319+23C>T) | gnomAD v4 |
1 | g.229432533G>C | CA2650926812 | ACTA1 | c.454+23C>G (n.454+23C>G) c.319+23C>G (n.319+23C>G) | gnomAD v4 |
1 | g.229432533G>T | CA2650926811 | ACTA1 | c.454+23C>A (n.454+23C>A) c.319+23C>A (n.319+23C>A) | gnomAD v4 |
1 | g.229432534A= | CA1226125859 | ACTA1 | c.454+22T= (n.454+22T=) c.319+22T= (n.319+22T=) | |
1 | g.229432534A>C | CA1442870 | ACTA1 | c.454+22T>G (n.454+22T>G) c.319+22T>G (n.319+22T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432534A>G | CA1013145693 | ACTA1 | c.454+22T>C (n.454+22T>C) c.319+22T>C (n.319+22T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432534_229432536del | CA2650926814 | ACTA1 | c.454+20_454+22del (n.454+20_454+22del) c.319+20_319+22del (n.319+20_319+22del) | gnomAD v4 |
1 | g.229432535C>G | CA2650926815 | ACTA1 | c.454+21G>C (n.454+21G>C) c.319+21G>C (n.319+21G>C) | gnomAD v4 |
1 | g.229432536del | CA2571800930 | ACTA1 | c.454+20del (n.454+20del) c.319+20del (n.319+20del) | |
1 | g.229432536T>A | CA2650926816 | ACTA1 | c.454+20A>T (n.454+20A>T) c.319+20A>T (n.319+20A>T) | gnomAD v4 |
1 | g.229432536T>C | CA2650926817 | ACTA1 | c.454+20A>G (n.454+20A>G) c.319+20A>G (n.319+20A>G) | gnomAD v4 |
1 | g.229432536T>G | CA646467721 | ACTA1 | c.454+20A>C (n.454+20A>C) c.319+20A>C (n.319+20A>C) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.229432536T= | CA1226125861 | ACTA1 | c.454+20A= (n.454+20A=) c.319+20A= (n.319+20A=) | |
1 | g.229432536dup | CA2574151340 | ACTA1 | c.454+20dup (n.454+20dup) c.319+20dup (n.319+20dup) | |
1 | g.229432536_229432537delinsTG | CA1226125860 | ACTA1 | c.454+19_454+20delinsCA (n.454+19_454+20delinsCA) c.319+19_319+20delinsCA (n.319+19_319+20delinsCA) | |
1 | g.229432537G>A | CA1226125863 | ACTA1 | c.454+19C>T (n.454+19C>T) c.319+19C>T (n.319+19C>T) | dbSNP gnomAD v4 |
1 | g.229432537G>C | CA1226125862 | ACTA1 | c.454+19C>G (n.454+19C>G) c.319+19C>G (n.319+19C>G) | dbSNP |
1 | g.229432537G= | CA1226125864 | ACTA1 | c.454+19C= (n.454+19C=) c.319+19C= (n.319+19C=) | |
1 | g.229432537G>T | CA529915327 | ACTA1 | c.454+19C>A (n.454+19C>A) c.319+19C>A (n.319+19C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432541del | CA1442871 | ACTA1 | c.454+19del (n.454+19del) c.319+19del (n.319+19del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432538G>C | CA38816086 | ACTA1 | c.454+18C>G (n.454+18C>G) c.319+18C>G (n.319+18C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432538G= | CA1226125865 | ACTA1 | c.454+18C= (n.454+18C=) c.319+18C= (n.319+18C=) | |
1 | g.229432538G>T | CA2530235526 | ACTA1 | c.454+18C>A (n.454+18C>A) c.319+18C>A (n.319+18C>A) | |
1 | g.229432539G>A | CA2650926818 | ACTA1 | c.454+17C>T (n.454+17C>T) c.319+17C>T (n.319+17C>T) | gnomAD v4 |
1 | g.229432539G= | CA1226125866 | ACTA1 | c.454+17C= (n.454+17C=) c.319+17C= (n.319+17C=) | |
1 | g.229432539G>T | CA529915328 | ACTA1 | c.454+17C>A (n.454+17C>A) c.319+17C>A (n.319+17C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432540G>A | CA2574151341 | ACTA1 | c.454+16C>T (n.454+16C>T) c.319+16C>T (n.319+16C>T) | gnomAD v4 |
1 | g.229432541G>A | CA1442872 | ACTA1 | c.454+15C>T (n.454+15C>T) c.319+15C>T (n.319+15C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432541G= | CA1143479586 | ACTA1 | c.454+15C= (n.454+15C=) c.319+15C= (n.319+15C=) | |
1 | g.229432541G>T | CA1442873 | ACTA1 | c.454+15C>A (n.454+15C>A) c.319+15C>A (n.319+15C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432542del | CA2580062280 | ACTA1 | c.454+14del (n.454+14del) c.319+14del (n.319+14del) | ClinVar |
1 | g.229432542C>A | CA2574151342 | ACTA1 | c.454+14G>T (n.454+14G>T) c.319+14G>T (n.319+14G>T) | |
1 | g.229432543A>C | CA2550590291 | ACTA1 | c.454+13T>G (n.454+13T>G) c.319+13T>G (n.319+13T>G) | gnomAD v4 |
1 | g.229432543A>T | CA2501521743 | ACTA1 | c.454+13T>A (n.454+13T>A) c.319+13T>A (n.319+13T>A) | |
1 | g.229432544G>A | CA1442874 | ACTA1 | c.454+12C>T (n.454+12C>T) c.319+12C>T (n.319+12C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432544G= | CA1226125867 | ACTA1 | c.454+12C= (n.454+12C=) c.319+12C= (n.319+12C=) | |
1 | g.229432544G>T | CA2539567588 | ACTA1 | c.454+12C>A (n.454+12C>A) c.319+12C>A (n.319+12C>A) | |
1 | g.229432545C= | CA1146096580 | ACTA1 | c.454+11G= (n.454+11G=) c.319+11G= (n.319+11G=) | |
1 | g.229432545C>G | CA1226125868 | ACTA1 | c.454+11G>C (n.454+11G>C) c.319+11G>C (n.319+11G>C) | dbSNP |
1 | g.229432545C>T | CA1442875 | ACTA1 | c.454+11G>A (n.454+11G>A) c.319+11G>A (n.319+11G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432545_229432546insT | CA2748068705 | ACTA1 | c.454+10_454+11insA (n.454+10_454+11insA) c.319+10_319+11insA (n.319+10_319+11insA) | |
1 | g.229432546G>A | CA2650926819 | ACTA1 | c.454+10C>T (n.454+10C>T) c.319+10C>T (n.319+10C>T) | dbSNP gnomAD v4 |
1 | g.229432546G>C | CA529915329 | ACTA1 | c.454+10C>G (n.454+10C>G) c.319+10C>G (n.319+10C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432546G= | CA1226125869 | ACTA1 | c.454+10C= (n.454+10C=) c.319+10C= (n.319+10C=) | |
1 | g.229432546G>T | CA732581123 | ACTA1 | c.454+10C>A (n.454+10C>A) c.319+10C>A (n.319+10C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.229432548G>A | CA529915330 | ACTA1 | c.454+8C>T (n.454+8C>T) c.319+8C>T (n.319+8C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432548G= | CA1226125870 | ACTA1 | c.454+8C= (n.454+8C=) c.319+8C= (n.319+8C=) | |
1 | g.229432549C>A | CA1442876 | ACTA1 | c.454+7G>T (n.454+7G>T) c.319+7G>T (n.319+7G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432549C= | CA1149051003 | ACTA1 | c.454+7G= (n.454+7G=) c.319+7G= (n.319+7G=) | |
1 | g.229432550A= | CA1226125871 | ACTA1 | c.454+6T= (n.454+6T=) c.319+6T= (n.319+6T=) | |
1 | g.229432550A>C | CA1013145711 | ACTA1 | c.454+6T>G (n.454+6T>G) c.319+6T>G (n.319+6T>G) | gnomAD v3 gnomAD v4 |
1 | g.229432550A>G | CA2650926820 | ACTA1 | c.454+6T>C (n.454+6T>C) c.319+6T>C (n.319+6T>C) | gnomAD v4 |
1 | g.229432550A>T | CA1442877 | ACTA1 | c.454+6T>A (n.454+6T>A) c.319+6T>A (n.319+6T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432551C= | CA1226125872 | ACTA1 | c.454+5G= (n.454+5G=) c.319+5G= (n.319+5G=) | |
1 | g.229432551C>G | CA1226125873 | ACTA1 | c.454+5G>C (n.454+5G>C) c.319+5G>C (n.319+5G>C) | dbSNP gnomAD v4 |
1 | g.229432551C>T | CA529915331 | ACTA1 | c.454+5G>A (n.454+5G>A) c.319+5G>A (n.319+5G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432552T>A | CA529915332 | ACTA1 | c.454+4A>T (n.454+4A>T) c.319+4A>T (n.319+4A>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432552T= | CA1226125874 | ACTA1 | c.454+4A= (n.454+4A=) c.319+4A= (n.319+4A=) | |
1 | g.229432553C>A | CA1442878 | ACTA1 | c.454+3G>T (n.454+3G>T) c.319+3G>T (n.319+3G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432553C= | CA1143453130 | ACTA1 | c.454+3G= (n.454+3G=) c.319+3G= (n.319+3G=) | |
1 | g.229432553C>T | CA1013145715 | ACTA1 | c.454+3G>A (n.454+3G>A) c.319+3G>A (n.319+3G>A) | gnomAD v3 gnomAD v4 |
1 | g.229432554A>C | CA345149046 | ACTA1 | c.454+2T>G (n.454+2T>G) c.319+2T>G (n.319+2T>G) | |
1 | g.229432554A>G | CA345149049 | ACTA1 | c.454+2T>C (n.454+2T>C) c.319+2T>C (n.319+2T>C) | |
1 | g.229432554A>T | CA345149053 | ACTA1 | c.454+2T>A (n.454+2T>A) c.319+2T>A (n.319+2T>A) | |
1 | g.229432555C>A | CA345149062 | ACTA1 | c.454+1G>T (n.454+1G>T) c.319+1G>T (n.319+1G>T) | |
1 | g.229432555C>G | CA345149060 | ACTA1 | c.454+1G>C (n.454+1G>C) c.319+1G>C (n.319+1G>C) | |
1 | g.229432555C>T | CA345149058 | ACTA1 | c.454+1G>A (n.454+1G>A) c.319+1G>A (n.319+1G>A) | gnomAD v4 |
1 | g.229432556C>A | CA345149064 | ACTA1 | c.454G>T (p.Gly152Cys) c.319G>T (p.Gly107Cys) | gnomAD v4 |
1 | g.229432556C>G | CA345149068 | ACTA1 | c.454G>C (p.Gly152Arg) c.319G>C (p.Gly107Arg) | |
1 | g.229432556C>T | CA345149066 | ACTA1 | c.454G>A (p.Gly152Ser) c.319G>A (p.Gly107Ser) | gnomAD v4 COSMIC |
1 | g.229432557G>A | CA423755160 | ACTA1 | c.453C>T (p.Thr151=) c.318C>T (p.Thr106=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432557G>C | CA1442880 | ACTA1 | c.453C>G (p.Thr151=) c.318C>G (p.Thr106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432557G= | CA1140972736 | ACTA1 | c.453C= (p.Thr151=) c.318C= (p.Thr106=) | |
1 | g.229432557G>T | CA1442879 | ACTA1 | c.453C>A (p.Thr151=) c.318C>A (p.Thr106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432558G>A | CA345149074 | ACTA1 | c.452C>T (p.Thr151Ile) c.317C>T (p.Thr106Ile) | |
1 | g.229432558G>C | CA345149080 | ACTA1 | c.452C>G (p.Thr151Ser) c.317C>G (p.Thr106Ser) | |
1 | g.229432558G>T | CA345149077 | ACTA1 | c.452C>A (p.Thr151Asn) c.317C>A (p.Thr106Asn) | ClinVar dbSNP |
1 | g.229432559T>A | CA345149083 | ACTA1 | c.451A>T (p.Thr151Ser) c.316A>T (p.Thr106Ser) | |
1 | g.229432559T>C | CA345149087 | ACTA1 | c.451A>G (p.Thr151Ala) c.316A>G (p.Thr106Ala) | |
1 | g.229432559T>G | CA345149085 | ACTA1 | c.451A>C (p.Thr151Pro) c.316A>C (p.Thr106Pro) | |
1 | g.229432560G>A | CA423755163 | ACTA1 | c.450C>T (p.Thr150=) c.315C>T (p.Thr105=) | |
1 | g.229432560G>C | CA423755164 | ACTA1 | c.450C>G (p.Thr150=) c.315C>G (p.Thr105=) | |
1 | g.229432560G>T | CA423755165 | ACTA1 | c.450C>A (p.Thr150=) c.315C>A (p.Thr105=) | |
1 | g.229432561G>A | CA345149090 | ACTA1 | c.449C>T (p.Thr150Ile) c.314C>T (p.Thr105Ile) | ClinVar |
1 | g.229432561G>C | CA345149092 | ACTA1 | c.449C>G (p.Thr150Ser) c.314C>G (p.Thr105Ser) | ClinVar dbSNP |
1 | g.229432561G= | CA1226125875 | ACTA1 | c.449C= (p.Thr150=) c.314C= (p.Thr105=) | |
1 | g.229432561G>T | CA345149091 | ACTA1 | c.449C>A (p.Thr150Asn) c.314C>A (p.Thr105Asn) | |
1 | g.229432562T>A | CA345149093 | ACTA1 | c.448A>T (p.Thr150Ser) c.313A>T (p.Thr105Ser) | ClinVar |
1 | g.229432562T>C | CA345149095 | ACTA1 | c.448A>G (p.Thr150Ala) c.313A>G (p.Thr105Ala) | |
1 | g.229432562T>G | CA345149094 | ACTA1 | c.448A>C (p.Thr150Pro) c.313A>C (p.Thr105Pro) | gnomAD v3 gnomAD v4 |
1 | g.229432563C>A | CA345149097 | ACTA1 | c.447G>T (p.Arg149Ser) c.312G>T (p.Arg104Ser) | dbSNP gnomAD v4 |
1 | g.229432563C= | CA1226125876 | ACTA1 | c.447G= (p.Arg149=) c.312G= (p.Arg104=) | |
1 | g.229432563C>G | CA345149100 | ACTA1 | c.447G>C (p.Arg149Ser) c.312G>C (p.Arg104Ser) | |
1 | g.229432563C>T | CA423755169 | ACTA1 | c.447G>A (p.Arg149=) c.312G>A (p.Arg104=) | |
1 | g.229432564C>A | CA345149102 | ACTA1 | c.446G>T (p.Arg149Met) c.311G>T (p.Arg104Met) | |
1 | g.229432564C= | CA1144233515 | ACTA1 | c.446G= (p.Arg149=) c.311G= (p.Arg104=) | |
1 | g.229432564C>G | CA345149105 | ACTA1 | c.446G>C (p.Arg149Thr) c.311G>C (p.Arg104Thr) | |
1 | g.229432564C>T | CA221488 | ACTA1 | c.446G>A (p.Arg149Lys) c.311G>A (p.Arg104Lys) | ClinVar dbSNP COSMIC |
1 | g.229432565T>A | CA345149111 | ACTA1 | c.445A>T (p.Arg149Trp) c.310A>T (p.Arg104Trp) | |
1 | g.229432565T>C | CA345149115 | ACTA1 | c.445A>G (p.Arg149Gly) c.310A>G (p.Arg104Gly) | |
1 | g.229432565T>G | CA423755171 | ACTA1 | c.445A>C (p.Arg149=) c.310A>C (p.Arg104=) | dbSNP |
1 | g.229432565T= | CA1226125877 | ACTA1 | c.445A= (p.Arg149=) c.310A= (p.Arg104=) | |
1 | g.229432566G>A | CA1442881 | ACTA1 | c.444C>T (p.Gly148=) c.309C>T (p.Gly103=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432566G>C | CA423755172 | ACTA1 | c.444C>G (p.Gly148=) c.309C>G (p.Gly103=) | |
1 | g.229432566G= | CA1226125878 | ACTA1 | c.444C= (p.Gly148=) c.309C= (p.Gly103=) | |
1 | g.229432566G>T | CA423755173 | ACTA1 | c.444C>A (p.Gly148=) c.309C>A (p.Gly103=) | |
1 | g.229432567C>A | CA345149129 | ACTA1 | c.443G>T (p.Gly148Val) c.308G>T (p.Gly103Val) | ClinVar |
1 | g.229432567C>G | CA345149130 | ACTA1 | c.443G>C (p.Gly148Ala) c.308G>C (p.Gly103Ala) | |
1 | g.229432567C>T | CA345149132 | ACTA1 | c.443G>A (p.Gly148Asp) c.308G>A (p.Gly103Asp) | |
1 | g.229432568C>A | CA345149133 | ACTA1 | c.442G>T (p.Gly148Cys) c.307G>T (p.Gly103Cys) | |
1 | g.229432568C= | CA1144233516 | ACTA1 | c.442G= (p.Gly148=) c.307G= (p.Gly103=) | |
1 | g.229432568C>G | CA10602749 | ACTA1 | c.442G>C (p.Gly148Arg) c.307G>C (p.Gly103Arg) | ClinVar dbSNP |
1 | g.229432568C>T | CA221485 | ACTA1 | c.442G>A (p.Gly148Ser) c.307G>A (p.Gly103Ser) | ClinVar dbSNP |
1 | g.229432570_229432575dup | CA2586968416 | ACTA1 | c.437_442dup (p.Ser147_Gly148insAlaSer) c.302_307dup (p.Ser102_Gly103insAlaSer) | |
1 | g.229432569G>A | CA423755176 | ACTA1 | c.441C>T (p.Ser147=) c.306C>T (p.Ser102=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432569G>C | CA423755179 | ACTA1 | c.441C>G (p.Ser147=) c.306C>G (p.Ser102=) | gnomAD v4 |
1 | g.229432569G= | CA1226125879 | ACTA1 | c.441C= (p.Ser147=) c.306C= (p.Ser102=) | |
1 | g.229432569G>T | CA423755180 | ACTA1 | c.441C>A (p.Ser147=) c.306C>A (p.Ser102=) | |
1 | g.229432570G>A | CA345149135 | ACTA1 | c.440C>T (p.Ser147Phe) c.305C>T (p.Ser102Phe) | ClinVar |
1 | g.229432570G>C | CA345149143 | ACTA1 | c.440C>G (p.Ser147Cys) c.305C>G (p.Ser102Cys) | |
1 | g.229432570G>T | CA345149145 | ACTA1 | c.440C>A (p.Ser147Tyr) c.305C>A (p.Ser102Tyr) | ClinVar |
1 | g.229432571A>C | CA345149146 | ACTA1 | c.439T>G (p.Ser147Ala) c.304T>G (p.Ser102Ala) | |
1 | g.229432571A>G | CA345149147 | ACTA1 | c.439T>C (p.Ser147Pro) c.304T>C (p.Ser102Pro) | |
1 | g.229432571A>T | CA345149151 | ACTA1 | c.439T>A (p.Ser147Thr) c.304T>A (p.Ser102Thr) | |
1 | g.229432572G>A | CA423755182 | ACTA1 | c.438C>T (p.Ala146=) c.303C>T (p.Ala101=) | |
1 | g.229432572G>C | CA423755186 | ACTA1 | c.438C>G (p.Ala146=) c.303C>G (p.Ala101=) | dbSNP |
1 | g.229432572G= | CA1226125880 | ACTA1 | c.438C= (p.Ala146=) c.303C= (p.Ala101=) | |
1 | g.229432572G>T | CA423755184 | ACTA1 | c.438C>A (p.Ala146=) c.303C>A (p.Ala101=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.229432573G>A | CA345149154 | ACTA1 | c.437C>T (p.Ala146Val) c.302C>T (p.Ala101Val) | ClinVar dbSNP |
1 | g.229432573G>C | CA345149155 | ACTA1 | c.437C>G (p.Ala146Gly) c.302C>G (p.Ala101Gly) | |
1 | g.229432573G= | CA1226125882 | ACTA1 | c.437C= (p.Ala146=) c.302C= (p.Ala101=) | |
1 | g.229432573G>T | CA345149156 | ACTA1 | c.437C>A (p.Ala146Asp) c.302C>A (p.Ala101Asp) | |
1 | g.229432573_229432574delinsGC | CA1226125881 | ACTA1 | c.436_437delinsGC (p.Ala146=) c.301_302delinsGC (p.Ala101=) | |
1 | g.229432574del | CA529915333 | ACTA1 | c.436del (p.Ala146ProfsTer?) c.301del (p.Ala101ProfsTer?) c.436del (p.Ala146ProfsTer17) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432574C>A | CA345149159 | ACTA1 | c.436G>T (p.Ala146Ser) c.301G>T (p.Ala101Ser) | |
1 | g.229432574C>G | CA345149165 | ACTA1 | c.436G>C (p.Ala146Pro) c.301G>C (p.Ala101Pro) | |
1 | g.229432574C>T | CA345149158 | ACTA1 | c.436G>A (p.Ala146Thr) c.301G>A (p.Ala101Thr) | |
1 | g.229432575G>A | CA1442882 | ACTA1 | c.435C>T (p.Tyr145=) c.300C>T (p.Tyr100=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.229432575G>C | CA345149170 | ACTA1 | c.435C>G (p.Tyr145Ter) c.300C>G (p.Tyr100Ter) | gnomAD v4 |
1 | g.229432575G= | CA1143794504 | ACTA1 | c.435C= (p.Tyr145=) c.300C= (p.Tyr100=) | |
1 | g.229432575G>T | CA1442883 | ACTA1 | c.435C>A (p.Tyr145Ter) c.300C>A (p.Tyr100Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432576T>A | CA345149174 | ACTA1 | c.434A>T (p.Tyr145Phe) c.299A>T (p.Tyr100Phe) | ClinVar |
1 | g.229432576T>C | CA345149176 | ACTA1 | c.434A>G (p.Tyr145Cys) c.299A>G (p.Tyr100Cys) | |
1 | g.229432576T>G | CA345149178 | ACTA1 | c.434A>C (p.Tyr145Ser) c.299A>C (p.Tyr100Ser) | |
1 | g.229432576_229432577delinsTA | CA1226125883 | ACTA1 | c.433_434delinsTA (p.Tyr145=) c.298_299delinsTA (p.Tyr100=) | |
1 | g.229432577del | CA1226125884 | ACTA1 | c.433del (p.Tyr145ThrfsTer?) c.298del (p.Tyr100ThrfsTer?) c.433del (p.Tyr145ThrfsTer18) | dbSNP |
1 | g.229432577A>C | CA345149180 | ACTA1 | c.433T>G (p.Tyr145Asp) c.298T>G (p.Tyr100Asp) | |
1 | g.229432577A>G | CA345149182 | ACTA1 | c.433T>C (p.Tyr145His) c.298T>C (p.Tyr100His) | |
1 | g.229432577A>T | CA345149183 | ACTA1 | c.433T>A (p.Tyr145Asn) c.298T>A (p.Tyr100Asn) | |
1 | g.229432578G>A | CA423755055 | ACTA1 | c.432C>T (p.Leu144=) c.297C>T (p.Leu99=) | dbSNP |
1 | g.229432578G>C | CA423755056 | ACTA1 | c.432C>G (p.Leu144=) c.297C>G (p.Leu99=) | |
1 | g.229432578G>T | CA423755057 | ACTA1 | c.432C>A (p.Leu144=) c.297C>A (p.Leu99=) | |
1 | g.229432579A>C | CA345149185 | ACTA1 | c.431T>G (p.Leu144Arg) c.296T>G (p.Leu99Arg) | |
1 | g.229432579A>G | CA345149186 | ACTA1 | c.431T>C (p.Leu144Pro) c.296T>C (p.Leu99Pro) | ClinVar |
1 | g.229432579A>T | CA345149188 | ACTA1 | c.431T>A (p.Leu144His) c.296T>A (p.Leu99His) | gnomAD v4 |
1 | g.229432580G>A | CA10588284 | ACTA1 | c.430C>T (p.Leu144Phe) c.295C>T (p.Leu99Phe) | ClinVar dbSNP |
1 | g.229432580G>C | CA345149190 | ACTA1 | c.430C>G (p.Leu144Val) c.295C>G (p.Leu99Val) | |
1 | g.229432580G= | CA1226125885 | ACTA1 | c.430C= (p.Leu144=) c.295C= (p.Leu99=) | |
1 | g.229432580G>T | CA345149192 | ACTA1 | c.430C>A (p.Leu144Ile) c.295C>A (p.Leu99Ile) | |
1 | g.229432581G>A | CA423755062 | ACTA1 | c.429C>T (p.Ser143=) c.294C>T (p.Ser98=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.229432581G>C | CA423755063 | ACTA1 | c.429C>G (p.Ser143=) c.294C>G (p.Ser98=) | COSMIC |
1 | g.229432581G= | CA1226125886 | ACTA1 | c.429C= (p.Ser143=) c.294C= (p.Ser98=) | |
1 | g.229432581G>T | CA423755064 | ACTA1 | c.429C>A (p.Ser143=) c.294C>A (p.Ser98=) | |
1 | g.229432582G>A | CA1442884 | ACTA1 | c.428C>T (p.Ser143Phe) c.293C>T (p.Ser98Phe) | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.229432582G>C | CA38816219 | ACTA1 | c.428C>G (p.Ser143Cys) c.293C>G (p.Ser98Cys) | dbSNP |
1 | g.229432582G= | CA1140967570 | ACTA1 | c.428C= (p.Ser143=) c.293C= (p.Ser98=) | |
1 | g.229432582G>T | CA345149199 | ACTA1 | c.428C>A (p.Ser143Tyr) c.293C>A (p.Ser98Tyr) | |
1 | g.229432583A= | CA1226125887 | ACTA1 | c.427T= (p.Ser143=) c.292T= (p.Ser98=) | |
1 | g.229432583A>C | CA345149202 | ACTA1 | c.427T>G (p.Ser143Ala) c.292T>G (p.Ser98Ala) | |
1 | g.229432583A>G | CA345149203 | ACTA1 | c.427T>C (p.Ser143Pro) c.292T>C (p.Ser98Pro) | ClinVar dbSNP |
1 | g.229432583A>T | CA345149204 | ACTA1 | c.427T>A (p.Ser143Thr) c.292T>A (p.Ser98Thr) | |
1 | g.229432584C>A | CA423755066 | ACTA1 | c.426G>T (p.Leu142=) c.291G>T (p.Leu97=) | |
1 | g.229432584C>G | CA423755067 | ACTA1 | c.426G>C (p.Leu142=) c.291G>C (p.Leu97=) | |
1 | g.229432584C>T | CA423755068 | ACTA1 | c.426G>A (p.Leu142=) c.291G>A (p.Leu97=) | gnomAD v4 |
1 | g.229432585A= | CA1226125888 | ACTA1 | c.425T= (p.Leu142=) c.290T= (p.Leu97=) | |
1 | g.229432585A>C | CA345149205 | ACTA1 | c.425T>G (p.Leu142Arg) c.290T>G (p.Leu97Arg) | ClinVar dbSNP |
1 | g.229432585A>G | CA345149206 | ACTA1 | c.425T>C (p.Leu142Pro) c.290T>C (p.Leu97Pro) | ClinVar dbSNP |
1 | g.229432585A>T | CA345149208 | ACTA1 | c.425T>A (p.Leu142Gln) c.290T>A (p.Leu97Gln) | |
1 | g.229432586G>A | CA423755071 | ACTA1 | c.424C>T (p.Leu142=) c.289C>T (p.Leu97=) | |
1 | g.229432586G>C | CA345149211 | ACTA1 | c.424C>G (p.Leu142Val) c.289C>G (p.Leu97Val) | |
1 | g.229432586G>T | CA345149214 | ACTA1 | c.424C>A (p.Leu142Met) c.289C>A (p.Leu97Met) | |
1 | g.229432587C>A | CA423755072 | ACTA1 | c.423G>T (p.Val141=) c.288G>T (p.Val96=) | dbSNP |
1 | g.229432587C= | CA1146199362 | ACTA1 | c.423G= (p.Val141=) c.288G= (p.Val96=) | |
1 | g.229432587C>G | CA423755073 | ACTA1 | c.423G>C (p.Val141=) c.288G>C (p.Val96=) | |
1 | g.229432587C>T | CA1442885 | ACTA1 | c.423G>A (p.Val141=) c.288G>A (p.Val96=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432588A>C | CA345149222 | ACTA1 | c.422T>G (p.Val141Gly) c.287T>G (p.Val96Gly) | |
1 | g.229432588A>G | CA345149229 | ACTA1 | c.422T>C (p.Val141Ala) c.287T>C (p.Val96Ala) | |
1 | g.229432588A>T | CA345149220 | ACTA1 | c.422T>A (p.Val141Glu) c.287T>A (p.Val96Glu) | |
1 | g.229432589C>A | CA345149236 | ACTA1 | c.421G>T (p.Val141Leu) c.286G>T (p.Val96Leu) | |
1 | g.229432589C>G | CA345149232 | ACTA1 | c.421G>C (p.Val141Leu) c.286G>C (p.Val96Leu) | |
1 | g.229432589C>T | CA345149234 | ACTA1 | c.421G>A (p.Val141Met) c.286G>A (p.Val96Met) | gnomAD v4 |
1 | g.229432590G>A | CA423755074 | ACTA1 | c.420C>T (p.Ala140=) c.285C>T (p.Ala95=) | |
1 | g.229432590G>C | CA423755076 | ACTA1 | c.420C>G (p.Ala140=) c.285C>G (p.Ala95=) | |
1 | g.229432590G= | CA1226125889 | ACTA1 | c.420C= (p.Ala140=) c.285C= (p.Ala95=) | |
1 | g.229432590G>T | CA1442886 | ACTA1 | c.420C>A (p.Ala140=) c.285C>A (p.Ala95=) | dbSNP ExAC gnomAD v4 |
1 | g.229432591G>A | CA345149241 | ACTA1 | c.419C>T (p.Ala140Val) c.284C>T (p.Ala95Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.229432591G>C | CA345149244 | ACTA1 | c.419C>G (p.Ala140Gly) c.284C>G (p.Ala95Gly) | ClinVar dbSNP |
1 | g.229432591G= | CA1226125890 | ACTA1 | c.419C= (p.Ala140=) c.284C= (p.Ala95=) | |
1 | g.229432591G>T | CA345149246 | ACTA1 | c.419C>A (p.Ala140Asp) c.284C>A (p.Ala95Asp) | ClinVar dbSNP |
1 | g.229432592C>A | CA345149254 | ACTA1 | c.418G>T (p.Ala140Ser) c.283G>T (p.Ala95Ser) | |
1 | g.229432592C>G | CA345149248 | ACTA1 | c.418G>C (p.Ala140Pro) c.283G>C (p.Ala95Pro) | |
1 | g.229432592C>T | CA345149250 | ACTA1 | c.418G>A (p.Ala140Thr) c.283G>A (p.Ala95Thr) | |
1 | g.229432593C>A | CA345149256 | ACTA1 | c.417G>T (p.Gln139His) c.282G>T (p.Gln94His) | |
1 | g.229432593C>G | CA345149259 | ACTA1 | c.417G>C (p.Gln139His) c.282G>C (p.Gln94His) | |
1 | g.229432593C>T | CA423755080 | ACTA1 | c.417G>A (p.Gln139=) c.282G>A (p.Gln94=) | |
1 | g.229432594T>A | CA345149261 | ACTA1 | c.416A>T (p.Gln139Leu) c.281A>T (p.Gln94Leu) | |
1 | g.229432594T>C | CA345149263 | ACTA1 | c.416A>G (p.Gln139Arg) c.281A>G (p.Gln94Arg) | |
1 | g.229432594T>G | CA345149265 | ACTA1 | c.416A>C (p.Gln139Pro) c.281A>C (p.Gln94Pro) | |
1 | g.229432595G>A | CA345149270 | ACTA1 | c.415C>T (p.Gln139Ter) c.280C>T (p.Gln94Ter) | |
1 | g.229432595G>C | CA345149273 | ACTA1 | c.415C>G (p.Gln139Glu) c.280C>G (p.Gln94Glu) | |
1 | g.229432595G>T | CA345149271 | ACTA1 | c.415C>A (p.Gln139Lys) c.280C>A (p.Gln94Lys) | |
1 | g.229432596G>A | CA423755082 | ACTA1 | c.414C>T (p.Ile138=) c.279C>T (p.Ile93=) | gnomAD v4 COSMIC |
1 | g.229432596G>C | CA258142 | ACTA1 | c.414C>G (p.Ile138Met) c.279C>G (p.Ile93Met) | ClinVar dbSNP |
1 | g.229432596G= | CA1141581378 | ACTA1 | c.414C= (p.Ile138=) c.279C= (p.Ile93=) | |
1 | g.229432596G>T | CA423755084 | ACTA1 | c.414C>A (p.Ile138=) c.279C>A (p.Ile93=) | COSMIC |
1 | g.229432597A= | CA1148225034 | ACTA1 | c.413T= (p.Ile138=) c.278T= (p.Ile93=) | |
1 | g.229432597A>C | CA345149277 | ACTA1 | c.413T>G (p.Ile138Ser) c.278T>G (p.Ile93Ser) | |
1 | g.229432597A>G | CA345149278 | ACTA1 | c.413T>C (p.Ile138Thr) c.278T>C (p.Ile93Thr) | |
1 | g.229432597A>T | CA151568 | ACTA1 | c.413T>A (p.Ile138Asn) c.278T>A (p.Ile93Asn) | ClinVar dbSNP |
1 | g.229432598T>A | CA345149281 | ACTA1 | c.412A>T (p.Ile138Phe) c.277A>T (p.Ile93Phe) | |
1 | g.229432598T>C | CA345149282 | ACTA1 | c.412A>G (p.Ile138Val) c.277A>G (p.Ile93Val) | |
1 | g.229432598T>G | CA345149283 | ACTA1 | c.412A>C (p.Ile138Leu) c.277A>C (p.Ile93Leu) | |
1 | g.229432599G>A | CA423755086 | ACTA1 | c.411C>T (p.Ala137=) c.276C>T (p.Ala92=) | |
1 | g.229432599G>C | CA423755087 | ACTA1 | c.411C>G (p.Ala137=) c.276C>G (p.Ala92=) | |
1 | g.229432599G>T | CA423755088 | ACTA1 | c.411C>A (p.Ala137=) c.276C>A (p.Ala92=) | |
1 | g.229432600G>A | CA345149291 | ACTA1 | c.410C>T (p.Ala137Val) c.275C>T (p.Ala92Val) | |
1 | g.229432600G>C | CA345149292 | ACTA1 | c.410C>G (p.Ala137Gly) c.275C>G (p.Ala92Gly) | |
1 | g.229432600G>T | CA345149295 | ACTA1 | c.410C>A (p.Ala137Asp) c.275C>A (p.Ala92Asp) | ClinVar |
1 | g.229432601C>A | CA345149303 | ACTA1 | c.409G>T (p.Ala137Ser) c.274G>T (p.Ala92Ser) | |
1 | g.229432601C>G | CA345149300 | ACTA1 | c.409G>C (p.Ala137Pro) c.274G>C (p.Ala92Pro) | |
1 | g.229432601C>T | CA345149299 | ACTA1 | c.409G>A (p.Ala137Thr) c.274G>A (p.Ala92Thr) | gnomAD v4 |
1 | g.229432602C>A | CA423755090 | ACTA1 | c.408G>T (p.Val136=) c.273G>T (p.Val91=) | |
1 | g.229432602C= | CA1226125891 | ACTA1 | c.408G= (p.Val136=) c.273G= (p.Val91=) | |
1 | g.229432602C>G | CA423755091 | ACTA1 | c.408G>C (p.Val136=) c.273G>C (p.Val91=) | |
1 | g.229432602C>T | CA423755092 | ACTA1 | c.408G>A (p.Val136=) c.273G>A (p.Val91=) | dbSNP COSMIC |
1 | g.229432603A>C | CA345149307 | ACTA1 | c.407T>G (p.Val136Gly) c.272T>G (p.Val91Gly) | |
1 | g.229432603A>G | CA345149309 | ACTA1 | c.407T>C (p.Val136Ala) c.272T>C (p.Val91Ala) | ClinVar |
1 | g.229432603A>T | CA345149311 | ACTA1 | c.407T>A (p.Val136Glu) c.272T>A (p.Val91Glu) | |
1 | g.229432604C>A | CA345149314 | ACTA1 | c.406G>T (p.Val136Leu) c.271G>T (p.Val91Leu) | gnomAD v4 |
1 | g.229432604C>G | CA345149316 | ACTA1 | c.406G>C (p.Val136Leu) c.271G>C (p.Val91Leu) | |
1 | g.229432604C>T | CA345149318 | ACTA1 | c.406G>A (p.Val136Met) c.271G>A (p.Val91Met) | gnomAD v4 COSMIC |
1 | g.229432605G>A | CA38816275 | ACTA1 | c.405C>T (p.Tyr135=) c.270C>T (p.Tyr90=) | ClinVar dbSNP gnomAD v4 |
1 | g.229432605G>C | CA345149323 | ACTA1 | c.405C>G (p.Tyr135Ter) c.270C>G (p.Tyr90Ter) | |
1 | g.229432605G= | CA1226125892 | ACTA1 | c.405C= (p.Tyr135=) c.270C= (p.Tyr90=) | |
1 | g.229432605G>T | CA345149321 | ACTA1 | c.405C>A (p.Tyr135Ter) c.270C>A (p.Tyr90Ter) | |
1 | g.229432606T>A | CA345149328 | ACTA1 | c.404A>T (p.Tyr135Phe) c.269A>T (p.Tyr90Phe) | |
1 | g.229432606T>C | CA345149330 | ACTA1 | c.404A>G (p.Tyr135Cys) c.269A>G (p.Tyr90Cys) | |
1 | g.229432606T>G | CA345149336 | ACTA1 | c.404A>C (p.Tyr135Ser) c.269A>C (p.Tyr90Ser) | |
1 | g.229432607A>C | CA345149341 | ACTA1 | c.403T>G (p.Tyr135Asp) c.268T>G (p.Tyr90Asp) | |
1 | g.229432607A>G | CA345149343 | ACTA1 | c.403T>C (p.Tyr135His) c.268T>C (p.Tyr90His) | |
1 | g.229432607A>T | CA345149347 | ACTA1 | c.403T>A (p.Tyr135Asn) c.268T>A (p.Tyr90Asn) | |
1 | g.229432608C>A | CA345149349 | ACTA1 | c.402G>T (p.Met134Ile) c.267G>T (p.Met89Ile) | ClinVar dbSNP |
1 | g.229432608C= | CA1226125893 | ACTA1 | c.402G= (p.Met134=) c.267G= (p.Met89=) | |
1 | g.229432608C>G | CA345149356 | ACTA1 | c.402G>C (p.Met134Ile) c.267G>C (p.Met89Ile) | |
1 | g.229432608C>T | CA345149353 | ACTA1 | c.402G>A (p.Met134Ile) c.267G>A (p.Met89Ile) | ClinVar dbSNP |
1 | g.229432609A= | CA1226125894 | ACTA1 | c.401T= (p.Met134=) c.266T= (p.Met89=) | |
1 | g.229432609A>C | CA1442887 | ACTA1 | c.401T>G (p.Met134Arg) c.266T>G (p.Met89Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432609A>G | CA345149366 | ACTA1 | c.401T>C (p.Met134Thr) c.266T>C (p.Met89Thr) | COSMIC |
1 | g.229432609A>T | CA345149372 | ACTA1 | c.401T>A (p.Met134Lys) c.266T>A (p.Met89Lys) | |
1 | g.229432610del | CA2573132023 | ACTA1 | c.400del (p.Met134CysfsTer?) c.265del (p.Met89CysfsTer?) c.400del (p.Met134CysfsTer29) | ClinVar dbSNP gnomAD v4 |
1 | g.229432610T>A | CA345149375 | ACTA1 | c.400A>T (p.Met134Leu) c.265A>T (p.Met89Leu) | |
1 | g.229432610T>C | CA345149376 | ACTA1 | c.400A>G (p.Met134Val) c.265A>G (p.Met89Val) | ClinVar dbSNP |
1 | g.229432610T>G | CA345149381 | ACTA1 | c.400A>C (p.Met134Leu) c.265A>C (p.Met89Leu) | |
1 | g.229432610T= | CA1226125895 | ACTA1 | c.400A= (p.Met134=) c.265A= (p.Met89=) | |
1 | g.229432611G>A | CA423755105 | ACTA1 | c.399C>T (p.Ala133=) c.264C>T (p.Ala88=) | dbSNP |
1 | g.229432611G>C | CA423755106 | ACTA1 | c.399C>G (p.Ala133=) c.264C>G (p.Ala88=) | |
1 | g.229432611G= | CA1226125896 | ACTA1 | c.399C= (p.Ala133=) c.264C= (p.Ala88=) | |
1 | g.229432611G>T | CA423755107 | ACTA1 | c.399C>A (p.Ala133=) c.264C>A (p.Ala88=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.229432612G>A | CA345149385 | ACTA1 | c.398C>T (p.Ala133Val) c.263C>T (p.Ala88Val) | |
1 | g.229432612G>C | CA345149387 | ACTA1 | c.398C>G (p.Ala133Gly) c.263C>G (p.Ala88Gly) | |
1 | g.229432612G>T | CA345149390 | ACTA1 | c.398C>A (p.Ala133Asp) c.263C>A (p.Ala88Asp) | |
1 | g.229432613C>A | CA345149393 | ACTA1 | c.397G>T (p.Ala133Ser) c.262G>T (p.Ala88Ser) | gnomAD v4 |
1 | g.229432613C>G | CA345149394 | ACTA1 | c.397G>C (p.Ala133Pro) c.262G>C (p.Ala88Pro) | |
1 | g.229432613C>T | CA345149397 | ACTA1 | c.397G>A (p.Ala133Thr) c.262G>A (p.Ala88Thr) | gnomAD v4 |
1 | g.229432614G>A | CA1442888 | ACTA1 | c.396C>T (p.Pro132=) c.261C>T (p.Pro87=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.229432614G>C | CA38816294 | ACTA1 | c.396C>G (p.Pro132=) c.261C>G (p.Pro87=) | dbSNP gnomAD v4 |
1 | g.229432614G= | CA1149122227 | ACTA1 | c.396C= (p.Pro132=) c.261C= (p.Pro87=) | |
1 | g.229432614G>T | CA423755110 | ACTA1 | c.396C>A (p.Pro132=) c.261C>A (p.Pro87=) | gnomAD v4 |